General Information:

Id: 7,111
Diseases: Diabetes mellitus, type II - [OMIM]
Insulin resistance
Nephronophthisis 12 - [OMIM]
Homo sapiens
article
Reference: [PMID: 24876116]

Interaction Information:

Comment A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Formal Description
Interaction-ID: 70028

gene/protein

TTC21B

affects_activity of

disease

Focal segmental glomerulosclerosis

Comment A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Formal Description
Interaction-ID: 70059

increases_activity of

disease

Focal segmental glomerulosclerosis

Comment IFT139 was expressed predominantly in distal tubules, as expected for a nephronophthisis-causing gene, but was also strongly expressed in glomerular podocytes, as evidenced by costaining with synaptopodin. Western blot analyses confirmed IFT139 expression in both tubules and glomeruli.
Formal Description
Interaction-ID: 70060

gene/protein

TTC21B

is_expressed_in

tissue/cell line

renal distal tubule

Comment IFT139 was expressed predominantly in distal tubules, as expected for a nephronophthisis-causing gene, but was also strongly expressed in glomerular podocytes, as evidenced by costaining with synaptopodin. Western blot analyses confirmed IFT139 expression in both tubules and glomeruli.
Formal Description
Interaction-ID: 70061

gene/protein

TTC21B

is_expressed_in

tissue/cell line

podocyte

Comment IFT139 was expressed predominantly in distal tubules, as expected for a nephronophthisis-causing gene, but was also strongly expressed in glomerular podocytes, as evidenced by costaining with synaptopodin. Western blot analyses confirmed IFT139 expression in both tubules and glomeruli.
Formal Description
Interaction-ID: 70062

gene/protein

TTC21B

is_expressed_in

tissue/cell line

renal glomerulus

Comment In human immortalized undifferentiated podocytes, the endogenous IFT139 localization at the base of the primary cilium was confirmed. As in in vivo studies, during podocyte differentiation, the cilia disappeared, cells underwent microtubule rearrangements concomitant with IFT139 relocalization along the microtubule network. In differentiated cells expressing synaptopodin, IFT139 expression was increased, as confirmed by Western blot and quantitative PCR.
Formal Description
Interaction-ID: 70063

gene/protein

TTC21B

is localized in

cellular component

ciliary base

in undifferentiated podocytes
Comment In human immortalized undifferentiated podocytes, the endogenous IFT139 localization at the base of the primary cilium was confirmed. As in in vivo studies, during podocyte differentiation, the cilia disappeared, cells underwent microtubule rearrangements concomitant with IFT139 relocalization along the microtubule network. In differentiated cells expressing synaptopodin, IFT139 expression was increased, as confirmed by Western blot and quantitative PCR.
Formal Description
Interaction-ID: 70064

decreases_quantity of

cellular component

cilium

Comment Because the primary cilium plays a major role in Hedgehog signaling, the role of the TTC21B p.P209L mutation on this pathway using a Smoothened agonist was investigated. No alteration of the ciliary translocation of Smoothened was observed.
Formal Description
Interaction-ID: 70065

NOT affects_activity of

Comment The data show that IFT139 function is not restricted to the cilium but extends to the regulation of podocyte cytoskeleton architecture as reported for most proteins implicated in FSGS.
Formal Description
Interaction-ID: 70066

gene/protein

TTC21B

affects_activity of