WDR35 WD repeat domain 35
Gene ID: 57539, updated on 5-Mar-2024Gene type: protein coding
Also known as: CED2; IFTA1; SRTD7; FAP118; IFT121; CFAP118
- See all available tests in GTR for this gene
- Go to complete Gene record for WDR35
- Go to Variation Viewer for WDR35 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cranioectodermal dysplasia 2 | See labs |
| Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Short-rib thoracic dysplasia 7 with or without polydactyly | See labs |
Genomic context
- Location:
- 2p24.1
- Sequence:
- Chromosome: 2; NC_000002.12 (19910263..19990105, complement)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WDR35 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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