WDR35

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function. [provided by RefSeq, Sep 2010]

Description

WD repeat domain 35

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (19910263 - 19990105)

Ensembl ID

ENSG00000118965  (ver. 103.38)

Orthologs

Mouse Wdr35: ENSMUSG00000066643

UniProt

Q9P2L0

neXtProt

NX_Q9P2L0

Human splice variants
Mouse splice variants

Protein structure