B9D2 B9 domain containing 2
Gene ID: 80776, updated on 10-Dec-2024Gene type: protein coding
Also known as: MKS10; MKSR2; ICIS-1; JBTS34; MKSR-2
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- Go to complete Gene record for B9D2
- Go to Variation Viewer for B9D2 variants
Summary
This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. GeneReviews: Not available | |
| Meckel syndrome, type 10 | See labs |
Genomic context
- Location:
- 19q13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (41354417..41364149, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for B9D2 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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