DYNC2I2 dynein 2 intermediate chain 2
Gene ID: 89891, updated on 17-Jun-2024Gene type: protein coding
Also known as: DIC5; WDR34; FAP133; SRTD11; CFAP133; bA216B9.3
- See all available tests in GTR for this gene
- Go to complete Gene record for DYNC2I2
- Go to Variation Viewer for DYNC2I2 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. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants associated with disordered eating. GeneReviews: Not available | |
| Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available | |
| Short-rib thoracic dysplasia 11 with or without polydactyly | See labs |
Genomic context
- Location:
- 9q34.11
- Sequence:
- Chromosome: 9; NC_000009.12 (128633653..128684460, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DYNC2I2 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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