ANKRD13A ankyrin repeat domain 13A
Gene ID: 88455, updated on 2-Nov-2024Gene type: protein coding
Also known as: ANKRD13; NY-REN-25
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- Go to complete Gene record for ANKRD13A
- Go to Variation Viewer for ANKRD13A variants
Summary
Enables ubiquitin-modified protein reader activity. Involved in negative regulation of protein localization to endosome and negative regulation of receptor internalization. Located in late endosome; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. GeneReviews: Not available |
Genomic context
- Location:
- 12q24.11
- Sequence:
- Chromosome: 12; NC_000012.12 (109999213..110039763)
- Total number of exons:
- 17
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ANKRD13A 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
- Variation ViewerRelated Variants
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