AHNAK2 AHNAK nucleoprotein 2
Gene ID: 113146, updated on 3-Nov-2024Gene type: protein coding
Also known as: C14orf78
- See all available tests in GTR for this gene
- Go to complete Gene record for AHNAK2
- Go to Variation Viewer for AHNAK2 variants
Summary
This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available |
Genomic context
- Location:
- 14q32.33
- Sequence:
- Chromosome: 14; NC_000014.9 (104937253..104978374, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AHNAK2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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