CCDC88A coiled-coil domain containing 88A
Gene ID: 55704, updated on 5-Mar-2024Gene type: protein coding
Also known as: APE; GIV; GRDN; PEHO; HkRP1; PEHOL; GIRDIN; KIAA1212
- See all available tests in GTR for this gene
- Go to complete Gene record for CCDC88A
- Go to Variation Viewer for CCDC88A variants
Summary
This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. GeneReviews: Not available | |
| PEHO-like syndrome | See labs |
Genomic context
- Location:
- 2p16.1
- Sequence:
- Chromosome: 2; NC_000002.12 (55287842..55419856, complement)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CCDC88A 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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