WDR35 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
WDR35
Official Name
WD repeat domain 35 [Source:HGNC Symbol;Acc:HGNC:29250]
Ensembl ID
ENSG00000118965
Bio databases IDs NCBI: 57539 Ensembl: ENSG00000118965
Aliases WD repeat domain 35
Synonyms 4930459M12Rik, 4931430C06, CED2, CFAP118, FAP118, IFT121, IFTA1, mKIAA1336, RGD1564116, SRTD7, Wdr35l, WD repeat domain 35
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WDR35 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding

Pathways

Biological processes and signaling networks where the WDR35 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • short rib-polydactyly syndrome
  • cranioectodermal dysplasia type 2
  • short-rib thoracic dysplasia type 7 with polydactyly
  • hereditary disorder
  • WDR35-related disorder
  • short-rib thoracic dysplasia type 7
  • cranioectodermal dysplasia
  • short-rib thoracic dysplasia 7 without polydactyly
  • digenic short-rib thoracic dysplasia 7 and 20 with polydactyly
  • polycystic liver disease
regulated by
regulates
  • nitric oxide
role in cell
  • loss
  • loss in
  • activation
  • assembly
  • response by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • ciliary tip
  • cilia
  • basal bodies
  • centrosome
  • axonemes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human WDR35 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cilium morphogenesis
  • intraflagellar transport
  • intraflagellar retrograde transport

Cellular Component

Where in the cell the gene product is active
  • centrosome
  • cilium basal body
  • cilium
  • intraflagellar transport particle A
  • axoneme

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.