PCDH11Y

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its most closely related cadherin superfamily member is located in this homologous region on the X chromosome. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with N- and C-terminal variation. [provided by RefSeq]

Full Name

protocadherin 11 Y-linked

Function

Potential calcium-dependent cell-adhesion protein.

Biological Process

Cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Homophilic cell adhesion via plasma membrane adhesion moleculesIEA:InterPro
Positive regulation of Wnt signaling pathwayIMP:UniProtKB
SpermatogenesisIMP:UniProtKB

Cellular Location

Cell membrane

Involvement in disease

A chromosomal aberration involving PCDH11Y is a cause of multiple congenital abnormalities, including severe bilateral vesicoureteral reflux (VUR) with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with ROBO2.

Topology

Extracellular: 29-844
Helical: 845-865
Cytoplasmic: 866-1340