General Information:

Id: 7,103
Diseases: Nephronophthisis
Mammalia
review
Reference: [PMID: 25635582]

Interaction Information:

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69909

gene/protein

NPHP1

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69910

gene/protein

INVS

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69911

gene/protein

NPHP3

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69912

gene/protein

NPHP4

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69913

gene/protein

IQCB1

affects_activity of

disease

Nephronophthisis 5

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69914

gene/protein

CEP290

affects_activity of

disease

Nephronophthisis 6

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69915

gene/protein

GLIS2

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69917

gene/protein

RPGRIP1L

affects_activity of

disease

Nephronophthisis 8

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69918

gene/protein

NEK8

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69919

gene/protein

SDCCAG8

affects_activity of

disease

Nephronophthisis 10

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69920

gene/protein

TMEM67

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69921

gene/protein

TTC21B

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69922

gene/protein

WDR19

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69923

gene/protein

ZNF423

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69924

gene/protein

CEP164

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69925

gene/protein

ANKS6

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69926

gene/protein

IFT172

affects_activity of

disease

Nephronophthisis 17

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69927

gene/protein

CEP83

affects_activity of

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69928

gene/protein

XPNPEP3

affects_activity of

disease

Nephronophthisis

Comment NPHP is genetically heterogenous. Since the discovery of the first NPHP1 gene in 1997, twenty different NPHP genes, which encode Nephrocystins, have been identified.
Formal Description
Interaction-ID: 69929

gene/protein

SLC41A1

affects_activity of

disease

Nephronophthisis

Comment About 10–15% of NPHP patients have retinal degeneration. NPHP associated with retinitis pigmentosa is called Senior-Løken syndrome.
Formal Description
Interaction-ID: 69931

disease

Nephronophthisis

cooccurs with

Comment Features of Joubert syndrome are developmental delay, neonatal breathing abnormalities, muscular hypotonia, and ataxia. MRI imaging reveals the characteristic molar tooth sign which is due to cerebellar vermis aplasia/hypoplasia. Prevalence of Joubert syndrome is approximately 1 in 100,000 livebirths and about 20–30% of these patients develop NPHP. More than 20 genes have been identified which contribute to Joubert syndrome and about a third of them also cause NPHP.
Formal Description
Interaction-ID: 69933

disease

Nephronophthisis

cooccurs with

disease

Joubert syndrome

Comment About 10–15% of NPHP patients have retinal degeneration. NPHP associated with retinitis pigmentosa is called Senior-Løken syndrome.
Formal Description
Interaction-ID: 69934

disease

Nephronophthisis

cooccurs with

disease

Senior-Loken syndrome

Comment Meckel-Gruber syndrome is an extreme form of multiorgan involvement with NPHP. The affected patients frequently die in the perinatal period and are characterized by an occipital encephalocele, polydactyly, liver fibrosis and cystic kidney disease.
Formal Description
Interaction-ID: 69935

disease

Nephronophthisis

cooccurs with

disease

Meckel syndrome

Comment Liver fibrosis occurs together with different syndromes (e.g. Arima, Meckel and Boichis syndrome) which may also have cystic kidney disease or isolated with NPHP.
Formal Description
Interaction-ID: 69937

disease

Nephronophthisis

cooccurs with

phenotype

liver fibrosis

Comment The most common forms of bone involvement with NPHP are Jeune syndrome, cranio-ectodermal dysplasia (aka Sennsenbrenner syndrome) and Mainzer-Saldino syndrome. Jeune syndrome is characterized by rib cage narrowing, polydactyly, and brachydactyly; and can include cystic kidney disease, liver disease and retinal degeneration. The rib cage narrowing in these patients can be quite severe thus causing respiratory failure. Jeune syndrome is also known as asphyxiating thoracic dystrophy. Jeune syndrome and cranio-ectodermal dysplasia have overlapping phenotypes with rib cage narrowing (usually milder than in Jeune syndrome), polydactyly, and brachydactyly. More prominent in patients with cranio-ectodermal dysplasia are dolichocephaly, pectus excavatum, and in particular ectodermal involvement with delayed tooth eruption, skin laxity, sparse, fine hair and slow growing nails. Features of Mainzer-Saldino syndrome are phalangeal cone-shaped epiphyses, retinal dystrophy and NPHP.
Formal Description
Interaction-ID: 69939

disease

Nephronophthisis

cooccurs with

disease

Short-rib thoracic dysplasia

Comment The most common forms of bone involvement with NPHP are Jeune syndrome, cranio-ectodermal dysplasia (aka Sennsenbrenner syndrome) and Mainzer-Saldino syndrome. Jeune syndrome is characterized by rib cage narrowing, polydactyly, and brachydactyly; and can include cystic kidney disease, liver disease and retinal degeneration. The rib cage narrowing in these patients can be quite severe thus causing respiratory failure. Jeune syndrome is also known as asphyxiating thoracic dystrophy. Jeune syndrome and cranio-ectodermal dysplasia have overlapping phenotypes with rib cage narrowing (usually milder than in Jeune syndrome), polydactyly, and brachydactyly. More prominent in patients with cranio-ectodermal dysplasia are dolichocephaly, pectus excavatum, and in particular ectodermal involvement with delayed tooth eruption, skin laxity, sparse, fine hair and slow growing nails. Features of Mainzer-Saldino syndrome are phalangeal cone-shaped epiphyses, retinal dystrophy and NPHP.
Formal Description
Interaction-ID: 69941

disease

Nephronophthisis

cooccurs with

disease

Sensenbrenner syndrome

Comment The most common forms of bone involvement with NPHP are Jeune syndrome, cranio-ectodermal dysplasia (aka Sennsenbrenner syndrome) and Mainzer-Saldino syndrome. Jeune syndrome is characterized by rib cage narrowing, polydactyly, and brachydactyly; and can include cystic kidney disease, liver disease and retinal degeneration. The rib cage narrowing in these patients can be quite severe thus causing respiratory failure. Jeune syndrome is also known as asphyxiating thoracic dystrophy. Jeune syndrome and cranio-ectodermal dysplasia have overlapping phenotypes with rib cage narrowing (usually milder than in Jeune syndrome), polydactyly, and brachydactyly. More prominent in patients with cranio-ectodermal dysplasia are dolichocephaly, pectus excavatum, and in particular ectodermal involvement with delayed tooth eruption, skin laxity, sparse, fine hair and slow growing nails. Features of Mainzer-Saldino syndrome are phalangeal cone-shaped epiphyses, retinal dystrophy and NPHP.
Formal Description
Interaction-ID: 69942

disease

Nephronophthisis

cooccurs with

disease

Mainzer-Saldino syndrome

Comment Situs invertus and congential heart defects occur mostly in patients with infantile NPHP. The most common congenital heart defect in this setting is ventricular septal defect.
Formal Description
Interaction-ID: 69943

disease

Nephronophthisis

cooccurs with

phenotype

situs inversus

Comment Situs invertus and congential heart defects occur mostly in patients with infantile NPHP. The most common congenital heart defect in this setting is ventricular septal defect.
Formal Description
Interaction-ID: 69944

disease

Nephronophthisis

cooccurs with

Comment Hypomorphic NPHP6/CEP290 mutations were found in approximately 20% of humans with Leber’s congenital amaurosis.
Formal Description
Interaction-ID: 69945

gene/protein

CEP290

affects_activity of

disease

Leber congenital amaurosis

Comment Cilia are dependent on intra-ciliary protein transport as there is no protein synthesis inside cilia. Required proteins are synthesized in the cytoplasm and pass the transition zone (TZ), which separates the cytoplasm from the ciliary axoneme. Inside the axoneme, they are transported along microtubules inside the cilium, a mechanism called intraflagellar transport (IFT). Cargo-rafts are moved either by kinesin motors (anterograde transport) or dynein motors (retrograde transport). At the root of the cilium is the basal body from which the cilium is assembled. The basal body derives from the mother centriole.
Formal Description
Interaction-ID: 69946

complex/PPI

Kinesin complex

increases_activity of

in primary cilium
Comment Cilia are dependent on intra-ciliary protein transport as there is no protein synthesis inside cilia. Required proteins are synthesized in the cytoplasm and pass the transition zone (TZ), which separates the cytoplasm from the ciliary axoneme. Inside the axoneme, they are transported along microtubules inside the cilium, a mechanism called intraflagellar transport (IFT). Cargo-rafts are moved either by kinesin motors (anterograde transport) or dynein motors (retrograde transport). At the root of the cilium is the basal body from which the cilium is assembled. The basal body derives from the mother centriole.
Formal Description
Interaction-ID: 69947

complex/PPI

Dynein complex

increases_activity of

in primary cilium
Comment Inversin and Nephrocystin-3 are expressed during embryogenesis in the ventral node, which is critical for left-right axis determination, thus providing an association with situs inversus.
Formal Description
Interaction-ID: 69948

gene/protein

INVS

affects_activity of

Comment Inversin and Nephrocystin-3 are expressed during embryogenesis in the ventral node, which is critical for left-right axis determination, thus providing an association with situs inversus.
Formal Description
Interaction-ID: 69949

gene/protein

NPHP3

affects_activity of

Comment Inversin and Nephrocystin-3 are expressed during embryogenesis in the ventral node, which is critical for left-right axis determination, thus providing an association with situs inversus.
Formal Description
Interaction-ID: 69950

affects_activity of

phenotype

situs inversus

Comment Another prominent organ with a cilia-related structure is the photoreceptor thus possibly explaining the association of retinitis pigmentosa with NPHP. The photoreceptor contains the rod outer and rod inner segments which are connected by a structure called the connecting cilium. The connecting cilium of the photoreceptor represents the structural counterpart of the primary cilium, and some authors call the rod outer segment the photosensitive cilium. The rod outer segment shares features with the primary cilium: both have sensory function and lack biosynthetic activity. Rhodopsin is synthesized in the rod inner segment and transported via the connecting cilium to the rod outer segment where it is sequestered in the light-sensing membranes. Accumulation of rhodopsin, transducin and other photo-transducing proteins in the rod inner segment is associated with apoptosis of the photoreceptor. Nephrocystin-5, nephrocystin-6 and nephrocystin-10 are the most prominent Nephrocystins being expressed in the connecting cilium.
Formal Description
Interaction-ID: 69951

gene/protein

IQCB1

is_expressed_in

cellular component

photoreceptor connecting cilium

Comment Another prominent organ with a cilia-related structure is the photoreceptor thus possibly explaining the association of retinitis pigmentosa with NPHP. The photoreceptor contains the rod outer and rod inner segments which are connected by a structure called the connecting cilium. The connecting cilium of the photoreceptor represents the structural counterpart of the primary cilium, and some authors call the rod outer segment the photosensitive cilium. The rod outer segment shares features with the primary cilium: both have sensory function and lack biosynthetic activity. Rhodopsin is synthesized in the rod inner segment and transported via the connecting cilium to the rod outer segment where it is sequestered in the light-sensing membranes. Accumulation of rhodopsin, transducin and other photo-transducing proteins in the rod inner segment is associated with apoptosis of the photoreceptor. Nephrocystin-5, nephrocystin-6 and nephrocystin-10 are the most prominent Nephrocystins being expressed in the connecting cilium.
Formal Description
Interaction-ID: 69952

gene/protein

CEP290

is_expressed_in

cellular component

photoreceptor connecting cilium

Comment Another prominent organ with a cilia-related structure is the photoreceptor thus possibly explaining the association of retinitis pigmentosa with NPHP. The photoreceptor contains the rod outer and rod inner segments which are connected by a structure called the connecting cilium. The connecting cilium of the photoreceptor represents the structural counterpart of the primary cilium, and some authors call the rod outer segment the photosensitive cilium. The rod outer segment shares features with the primary cilium: both have sensory function and lack biosynthetic activity. Rhodopsin is synthesized in the rod inner segment and transported via the connecting cilium to the rod outer segment where it is sequestered in the light-sensing membranes. Accumulation of rhodopsin, transducin and other photo-transducing proteins in the rod inner segment is associated with apoptosis of the photoreceptor. Nephrocystin-5, nephrocystin-6 and nephrocystin-10 are the most prominent Nephrocystins being expressed in the connecting cilium.
Formal Description
Interaction-ID: 69953

gene/protein

SDCCAG8

is_expressed_in

cellular component

photoreceptor connecting cilium

Comment Dysfunctional Nephrocystin expression in the connecting cilium of these patients may contribute to the high frequency of retinitis pigmentosa in nephrocystin-5 and nephrocystin-10 patients with 100% and 80%, respectively.
Formal Description
Interaction-ID: 69954

gene/protein

IQCB1

affects_activity of

Comment Dysfunctional Nephrocystin expression in the connecting cilium of these patients may contribute to the high frequency of retinitis pigmentosa in nephrocystin-5 and nephrocystin-10 patients with 100% and 80%, respectively.
Formal Description
Interaction-ID: 69955

gene/protein

SDCCAG8

affects_activity of

Comment Nephrocystin-5 and nephrocystin-6 were found to directly interact and both interact with another crucial protein named retinitis pigmentosa GTPase regulator (RPGR). Mutations in RPGR are responsible for X-linked retinitis pigmentosa.
Formal Description
Interaction-ID: 69956

gene/protein

IQCB1

interacts (colocalizes) with

gene/protein

CEP290

Comment Nephrocystin-5 and nephrocystin-6 were found to directly interact and both interact with another crucial protein named retinitis pigmentosa GTPase regulator (RPGR). Mutations in RPGR are responsible for X-linked retinitis pigmentosa.
Formal Description
Interaction-ID: 69957

gene/protein

IQCB1

interacts (colocalizes) with

gene/protein

RPGR

Comment Nephrocystin-5 and nephrocystin-6 were found to directly interact and both interact with another crucial protein named retinitis pigmentosa GTPase regulator (RPGR). Mutations in RPGR are responsible for X-linked retinitis pigmentosa.
Formal Description
Interaction-ID: 69958

gene/protein

CEP290

interacts (colocalizes) with

gene/protein

RPGR

Comment Nephrocystin-5 and nephrocystin-6 were found to directly interact and both interact with another crucial protein named retinitis pigmentosa GTPase regulator (RPGR). Mutations in RPGR are responsible for X-linked retinitis pigmentosa.
Formal Description
Interaction-ID: 69959

gene/protein

RPGR

affects_activity of

Comment Other Nephrocystins detected in the photoreceptor include Nephrocystin-1, -8, -11 and -12. The sequence variant A229T in NPHP8/RPGRIP1L was found to be associated with Leber’s congenital amaurosis.
Formal Description
Interaction-ID: 69960

gene/protein

NPHP1

is localized in

cellular component

photoreceptor connecting cilium

Comment Other Nephrocystins detected in the photoreceptor include Nephrocystin-1, -8, -11 and -12. The sequence variant A229T in NPHP8/RPGRIP1L was found to be associated with Leber’s congenital amaurosis.
Formal Description
Interaction-ID: 69961

gene/protein

RPGRIP1L

is localized in

cellular component

photoreceptor connecting cilium

Comment Other Nephrocystins detected in the photoreceptor include Nephrocystin-1, -8, -11 and -12. The sequence variant A229T in NPHP8/RPGRIP1L was found to be associated with Leber’s congenital amaurosis.
Formal Description
Interaction-ID: 69962

gene/protein

TMEM67

is localized in

cellular component

photoreceptor connecting cilium

Comment Other Nephrocystins detected in the photoreceptor include Nephrocystin-1, -8, -11 and -12. The sequence variant A229T in NPHP8/RPGRIP1L was found to be associated with Leber’s congenital amaurosis.
Formal Description
Interaction-ID: 69963

gene/protein

TTC21B

is localized in

cellular component

photoreceptor connecting cilium

Comment Other Nephrocystins detected in the photoreceptor include Nephrocystin-1, -8, -11 and -12. The sequence variant A229T in NPHP8/RPGRIP1L was found to be associated with Leber’s congenital amaurosis.
Formal Description
Interaction-ID: 69964

increases_activity of

disease

Leber congenital amaurosis

Comment NPHP11/TMEM67 is the most commonly involved nephrocystin in patients with liver fibrosis. Liver fibrosis is very prevalent in patients carrying two missense mutations in NPHP11/TMEM67.
Formal Description
Interaction-ID: 69965

gene/protein

TMEM67

affects_activity of

phenotype

liver fibrosis

Comment Inversin, Nephrocystin-3 and Nephrocystin-4 are thought to interfere with Wnt signaling.
Formal Description
Interaction-ID: 69966

gene/protein

INVS

affects_activity of

Comment Inversin, Nephrocystin-3 and Nephrocystin-4 are thought to interfere with Wnt signaling.
Formal Description
Interaction-ID: 69967

gene/protein

NPHP3

affects_activity of

Comment Inversin, Nephrocystin-3 and Nephrocystin-4 are thought to interfere with Wnt signaling.
Formal Description
Interaction-ID: 69968

gene/protein

NPHP4

affects_activity of

Comment Another signaling pathway involved in the pathogenesis of NPHP is Hedgehog signaling. Nephrocystin-7/GLIS2 was found to alter Hedgehog signaling. Altered Hedgehog signaling was also detected in a mutant nephrocystin-6/cep290 mouse which was found to be a viable model for Joubert syndrome. The Hedgehog pathway seems to be of particular importance regarding skeletal disorders.
Formal Description
Interaction-ID: 69969

gene/protein

GLIS2

affects_activity of

Comment Another signaling pathway involved in the pathogenesis of NPHP is Hedgehog signaling. Nephrocystin-7/GLIS2 was found to alter Hedgehog signaling. Altered Hedgehog signaling was also detected in a mutant nephrocystin-6/cep290 mouse which was found to be a viable model for Joubert syndrome. The Hedgehog pathway seems to be of particular importance regarding skeletal disorders.
Formal Description
Interaction-ID: 69970

gene/protein

CEP290

affects_activity of

Comment The Hippo pathway was found to be altered by Nephrocystin-4 and Nephrocystin-9/NEK8.
Formal Description
Interaction-ID: 69971

gene/protein

NPHP4

affects_activity of

process

hippo signaling

Comment The Hippo pathway was found to be altered by Nephrocystin-4 and Nephrocystin-9/NEK8.
Formal Description
Interaction-ID: 69972

gene/protein

NEK8

affects_activity of

process

hippo signaling

Comment NPHP9/NEK8, NPHP14/ZNF423, and NPHP15/CEP164 were identified to alter a highly conserved signaling pathway called DNA damage response signaling (DDR).
Formal Description
Interaction-ID: 69973

gene/protein

NEK8

affects_activity of

Comment NPHP9/NEK8, NPHP14/ZNF423, and NPHP15/CEP164 were identified to alter a highly conserved signaling pathway called DNA damage response signaling (DDR).
Formal Description
Interaction-ID: 69974

gene/protein

ZNF423

affects_activity of

Comment NPHP9/NEK8, NPHP14/ZNF423, and NPHP15/CEP164 were identified to alter a highly conserved signaling pathway called DNA damage response signaling (DDR).
Formal Description
Interaction-ID: 69975

gene/protein

CEP164

affects_activity of

Comment NPHP1 (Nephrocystin-1) has been shown to interact with Inversin, nephrocystin-3, nephrocystin-4, filamin A and B, tensin, beta-tubulin, and PTK2B.
Formal Description
Interaction-ID: 69977

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

INVS

Comment NPHP1 (Nephrocystin-1) has been shown to interact with Inversin, nephrocystin-3, nephrocystin-4, filamin A and B, tensin, beta-tubulin, and PTK2B.
Formal Description
Interaction-ID: 69978

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

NPHP3

Comment NPHP1 (Nephrocystin-1) has been shown to interact with Inversin, nephrocystin-3, nephrocystin-4, filamin A and B, tensin, beta-tubulin, and PTK2B.
Formal Description
Interaction-ID: 69979

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

NPHP4

Comment NPHP1 (Nephrocystin-1) has been shown to interact with Inversin, nephrocystin-3, nephrocystin-4, filamin A and B, tensin, beta-tubulin, and PTK2B.
Formal Description
Interaction-ID: 69980

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

FLNA

Comment NPHP1 (Nephrocystin-1) has been shown to interact with Inversin, nephrocystin-3, nephrocystin-4, filamin A and B, tensin, beta-tubulin, and PTK2B.
Formal Description
Interaction-ID: 69981

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

FLNB

Comment NPHP1 (Nephrocystin-1) has been shown to interact with Inversin, nephrocystin-3, nephrocystin-4, filamin A and B, tensin, beta-tubulin, and PTK2B.
Formal Description
Interaction-ID: 69982

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

TNS

Comment NPHP1 (Nephrocystin-1) has been shown to interact with Inversin, nephrocystin-3, nephrocystin-4, filamin A and B, tensin, beta-tubulin, and PTK2B.
Formal Description
Interaction-ID: 69983

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

TUBB

Drugbank entries Show/Hide entries for TUBB
Comment NPHP1 (Nephrocystin-1) has been shown to interact with Inversin, nephrocystin-3, nephrocystin-4, filamin A and B, tensin, beta-tubulin, and PTK2B.
Formal Description
Interaction-ID: 69984

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

PTK2B

Drugbank entries Show/Hide entries for PTK2B
Comment NPHP2/INVS (Inversin) has been shown to interact with Nephrocystin-1, calmodulin, catenins, beta-tubulin, and APC2.
Formal Description
Interaction-ID: 69985

gene/protein

INVS

interacts (colocalizes) with

gene/protein

CALM

Comment NPHP2/INVS (Inversin) has been shown to interact with Nephrocystin-1, calmodulin, catenins, beta-tubulin, and APC2.
Formal Description
Interaction-ID: 69986

gene/protein

INVS

interacts (colocalizes) with

gene/protein

CTNN

Comment NPHP2/INVS (Inversin) has been shown to interact with Nephrocystin-1, calmodulin, catenins, beta-tubulin, and APC2.
Formal Description
Interaction-ID: 69987

gene/protein

INVS

interacts (colocalizes) with

gene/protein

TUBB

Drugbank entries Show/Hide entries for TUBB
Comment NPHP2/INVS (Inversin) has been shown to interact with Nephrocystin-1, calmodulin, catenins, beta-tubulin, and APC2.
Formal Description
Interaction-ID: 69988

gene/protein

INVS

interacts (colocalizes) with

gene/protein

APC2

Comment NPHP4 (Nephrocystin-4) has been shown to interact with Nephrocystin-1, BCAR1, and PTK2B.
Formal Description
Interaction-ID: 69989

gene/protein

NPHP4

interacts (colocalizes) with

gene/protein

BCAR1

Comment NPHP4 (Nephrocystin-4) has been shown to interact with Nephrocystin-1, BCAR1, and PTK2B.
Formal Description
Interaction-ID: 69990

gene/protein

NPHP4

interacts (colocalizes) with

gene/protein

PTK2B

Drugbank entries Show/Hide entries for PTK2B
Comment NPHP5/IQCB1 (Nephrocystin-5) has been shown to interact with Calmodulin, RPGR, and nephrocystin-6.
Formal Description
Interaction-ID: 69991

gene/protein

IQCB1

interacts (colocalizes) with

gene/protein

CALM

Comment NPHP6/CEP290 (Nephrocystin-6/CEP290) has been shown to interact with ATF4, nephrocystin-5, and CC2D2A.
Formal Description
Interaction-ID: 69992

gene/protein

CEP290

interacts (colocalizes) with

gene/protein

ATF4

Comment NPHP6/CEP290 (Nephrocystin-6/CEP290) has been shown to interact with ATF4, nephrocystin-5, and CC2D2A.
Formal Description
Interaction-ID: 69993

gene/protein

CEP290

interacts (colocalizes) with

gene/protein

CC2D2A

Comment NPHP8/RPGRIP1L (Nephrocystin-8/RPGRIP1L) has been shown to interact with Nephrocystin-1.
Formal Description
Interaction-ID: 69994

gene/protein

RPGRIP1L

interacts (colocalizes) with

gene/protein

NPHP1

Comment NPHP10/SDCCAG8 (Nephrocystin-10/SDCCAG8) has been shown to interact with OFD1.
Formal Description
Interaction-ID: 69995

gene/protein

SDCCAG8

interacts (colocalizes) with

gene/protein

OFD1

Comment TMEM67/MKS3/NPHP11 (Nephrocystin-11/Meckelin) has been shown to interact with MKS1, nephrocystin-1, nephrocystin-4, nephrocystin-6, nesprin-2, and TMEM216.
Formal Description
Interaction-ID: 69996

gene/protein

TMEM67

interacts (colocalizes) with

gene/protein

MKS1

Comment TMEM67/MKS3/NPHP11 (Nephrocystin-11/Meckelin) has been shown to interact with MKS1, nephrocystin-1, nephrocystin-4, nephrocystin-6, nesprin-2, and TMEM216.
Formal Description
Interaction-ID: 69997

gene/protein

TMEM67

interacts (colocalizes) with

gene/protein

NPHP1

Comment TMEM67/MKS3/NPHP11 (Nephrocystin-11/Meckelin) has been shown to interact with MKS1, nephrocystin-1, nephrocystin-4, nephrocystin-6, nesprin-2, and TMEM216.
Formal Description
Interaction-ID: 69998

gene/protein

TMEM67

interacts (colocalizes) with

gene/protein

NPHP4

Comment TMEM67/MKS3/NPHP11 (Nephrocystin-11/Meckelin) has been shown to interact with MKS1, nephrocystin-1, nephrocystin-4, nephrocystin-6, nesprin-2, and TMEM216.
Formal Description
Interaction-ID: 69999

gene/protein

TMEM67

interacts (colocalizes) with

gene/protein

CEP290

Comment TMEM67/MKS3/NPHP11 (Nephrocystin-11/Meckelin) has been shown to interact with MKS1, nephrocystin-1, nephrocystin-4, nephrocystin-6, nesprin-2, and TMEM216.
Formal Description
Interaction-ID: 70000

gene/protein

TMEM67

interacts (colocalizes) with

gene/protein

SYNE2

Comment TMEM67/MKS3/NPHP11 (Nephrocystin-11/Meckelin) has been shown to interact with MKS1, nephrocystin-1, nephrocystin-4, nephrocystin-6, nesprin-2, and TMEM216.
Formal Description
Interaction-ID: 70001

gene/protein

TMEM67

interacts (colocalizes) with

gene/protein

TMEM216

Comment ZNF423/NPHP14 (Nephrocystin-14/ZNF423) has been shown to interact with PARP1 and nephrocystin-6.
Formal Description
Interaction-ID: 70002

gene/protein

ZNF423

interacts (colocalizes) with

gene/protein

PARP1

Drugbank entries Show/Hide entries for PARP1
Comment ZNF423/NPHP14 (Nephrocystin-14/ZNF423) has been shown to interact with PARP1 and nephrocystin-6.
Formal Description
Interaction-ID: 70003

gene/protein

ZNF423

interacts (colocalizes) with

gene/protein

CEP290

Comment CEP164/NPHP15 (Nephrocystin-15 centrosomal protein 164 kDa) has been shown to interact with ATRIP, CCDC92, TTBK2, nephrocystin-3, nephrocystin-4, and Dvl3.
Formal Description
Interaction-ID: 70004

gene/protein

CEP164

interacts (colocalizes) with

gene/protein

ATRIP

Comment CEP164/NPHP15 (Nephrocystin-15 centrosomal protein 164 kDa) has been shown to interact with ATRIP, CCDC92, TTBK2, nephrocystin-3, nephrocystin-4, and Dvl3.
Formal Description
Interaction-ID: 70005

gene/protein

CEP164

interacts (colocalizes) with

gene/protein

CCDC92

Comment CEP164/NPHP15 (Nephrocystin-15 centrosomal protein 164 kDa) has been shown to interact with ATRIP, CCDC92, TTBK2, nephrocystin-3, nephrocystin-4, and Dvl3.
Formal Description
Interaction-ID: 70006

gene/protein

CEP164

interacts (colocalizes) with

gene/protein

TTBK2

Comment CEP164/NPHP15 (Nephrocystin-15 centrosomal protein 164 kDa) has been shown to interact with ATRIP, CCDC92, TTBK2, nephrocystin-3, nephrocystin-4, and Dvl3.
Formal Description
Interaction-ID: 70007

gene/protein

CEP164

interacts (colocalizes) with

gene/protein

NPHP3

Comment CEP164/NPHP15 (Nephrocystin-15 centrosomal protein 164 kDa) has been shown to interact with ATRIP, CCDC92, TTBK2, nephrocystin-3, nephrocystin-4, and Dvl3.
Formal Description
Interaction-ID: 70008

gene/protein

CEP164

interacts (colocalizes) with

gene/protein

NPHP4

Comment CEP164/NPHP15 (Nephrocystin-15 centrosomal protein 164 kDa) has been shown to interact with ATRIP, CCDC92, TTBK2, nephrocystin-3, nephrocystin-4, and Dvl3.
Formal Description
Interaction-ID: 70009

gene/protein

CEP164

interacts (colocalizes) with

gene/protein

DVL3

Comment ANKS6/NPHP16 (Nephrocystin-16/ANKS6) has been shown to interact with INVS, nephrocystin-3, NEK8, HIF1AN, NEK7, and BICC1.
Formal Description
Interaction-ID: 70010

gene/protein

ANKS6

interacts (colocalizes) with

gene/protein

INVS

Comment ANKS6/NPHP16 (Nephrocystin-16/ANKS6) has been shown to interact with INVS, nephrocystin-3, NEK8, HIF1AN, NEK7, and BICC1.
Formal Description
Interaction-ID: 70011

gene/protein

ANKS6

interacts (colocalizes) with

gene/protein

NPHP3

Comment ANKS6/NPHP16 (Nephrocystin-16/ANKS6) has been shown to interact with INVS, nephrocystin-3, NEK8, HIF1AN, NEK7, and BICC1.
Formal Description
Interaction-ID: 70012

gene/protein

ANKS6

interacts (colocalizes) with

gene/protein

NEK8

Comment ANKS6/NPHP16 (Nephrocystin-16/ANKS6) has been shown to interact with INVS, nephrocystin-3, NEK8, HIF1AN, NEK7, and BICC1.
Formal Description
Interaction-ID: 70013

gene/protein

ANKS6

interacts (colocalizes) with

gene/protein

HIF1AN

Drugbank entries Show/Hide entries for HIF1AN
Comment ANKS6/NPHP16 (Nephrocystin-16/ANKS6) has been shown to interact with INVS, nephrocystin-3, NEK8, HIF1AN, NEK7, and BICC1.
Formal Description
Interaction-ID: 70014

gene/protein

ANKS6

interacts (colocalizes) with

gene/protein

NEK7

Comment ANKS6/NPHP16 (Nephrocystin-16/ANKS6) has been shown to interact with INVS, nephrocystin-3, NEK8, HIF1AN, NEK7, and BICC1.
Formal Description
Interaction-ID: 70015

gene/protein

ANKS6

interacts (colocalizes) with

gene/protein

BICC1

Comment IFT172/NPHP17 (Nephrocystin-17/IFT172) has been shown to interact with IFT140 and IFT80.
Formal Description
Interaction-ID: 70016

gene/protein

IFT172

interacts (colocalizes) with

gene/protein

IFT140

Comment IFT172/NPHP17 (Nephrocystin-17/IFT172) has been shown to interact with IFT140 and IFT80.
Formal Description
Interaction-ID: 70017

gene/protein

IFT172

interacts (colocalizes) with

gene/protein

IFT80

Comment CEP83/NPHP18 (Nephrocystin-18/centrosomal protein 83 kDa) has been shown to interact with CEP164 and IFT20.
Formal Description
Interaction-ID: 70018

gene/protein

CEP83

interacts (colocalizes) with

gene/protein

CEP164

Comment CEP83/NPHP18 (Nephrocystin-18/centrosomal protein 83 kDa) has been shown to interact with CEP164 and IFT20.
Formal Description
Interaction-ID: 70019

gene/protein

CEP83

interacts (colocalizes) with

gene/protein

IFT20

Comment NPHP1L/XPNPEP3 (nephrocystin-1L/XPNPEP3) has been shown to interact with LRRC50, ALMS1, and nephrocystin-6.
Formal Description
Interaction-ID: 70020

gene/protein

XPNPEP3

interacts (colocalizes) with

gene/protein

DNAAF1

Comment NPHP1L/XPNPEP3 (nephrocystin-1L/XPNPEP3) has been shown to interact with LRRC50, ALMS1, and nephrocystin-6.
Formal Description
Interaction-ID: 70021

gene/protein

XPNPEP3

interacts (colocalizes) with

gene/protein

ALMS1

Comment NPHP1L/XPNPEP3 (nephrocystin-1L/XPNPEP3) has been shown to interact with LRRC50, ALMS1, and nephrocystin-6.
Formal Description
Interaction-ID: 70022

gene/protein

XPNPEP3

interacts (colocalizes) with

gene/protein

CEP290