AKAP11 A-kinase anchoring protein 11
Gene ID: 11215, updated on 3-Nov-2024Gene type: protein coding
Also known as: PRKA11; AKAP-11; AKAP220; PPP1R44
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- Go to complete Gene record for AKAP11
- Go to Variation Viewer for AKAP11 variants
Summary
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. GeneReviews: Not available | |
| Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 13q14.11
- Sequence:
- Chromosome: 13; NC_000013.11 (42271477..42323261)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AKAP11 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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