CCDC88A Chromosome 2
Coiled-coil and HOOK domain protein 88A
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What This Gene Does
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]
Gene Info
Gene Group
HOOK related protein family
Locus Type
gene with protein product
Location
2p16.1
Ensembl
ENSG00000115355
Associated Conditions (2)
PEHO syndrome
PEHO-like syndrome
Key Variants
RS140794014
Conflicting classifications of pathogenicity
PEHO syndrome, PEHO syndrome
Health Risk
RS144813819
Conflicting classifications of pathogenicity
Health Risk
RS367582957
Conflicting classifications of pathogenicity
Health Risk
RS371735739
Conflicting classifications of pathogenicity
Health Risk
RS544349538
Conflicting classifications of pathogenicity
Health Risk
RS758258662
Conflicting classifications of pathogenicity
PEHO-like syndrome, PEHO-like syndrome
Health Risk
RS758300445
Conflicting classifications of pathogenicity
Health Risk
RS766387202
Conflicting classifications of pathogenicity
Health Risk
RS925841838
Conflicting classifications of pathogenicity
Health Risk
RS2544730849
Likely pathogenic
Health Risk
RS2544753236
Likely pathogenic
Health Risk
RS2544796645
Likely pathogenic
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140794014 | Health Risk | Conflicting classifications of pathogenicity | PEHO syndrome, PEHO syndrome |
| RS144813819 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367582957 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371735739 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS544349538 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758258662 | Health Risk | Conflicting classifications of pathogenicity | PEHO-like syndrome, PEHO-like syndrome |
| RS758300445 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766387202 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS925841838 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2544730849 | Health Risk | Likely pathogenic | — |
| RS2544753236 | Health Risk | Likely pathogenic | — |
| RS2544796645 | Health Risk | Likely pathogenic | — |
| RS1172386145 | Health Risk | Pathogenic | — |
| RS1247617743 | Health Risk | Pathogenic | — |
| RS1376116733 | Health Risk | Pathogenic | — |
| RS1433157966 | Health Risk | Pathogenic | — |
| RS1669094977 | Health Risk | Pathogenic | — |
| RS1681091117 | Health Risk | Pathogenic | — |
| RS2104596456 | Health Risk | Pathogenic | PEHO-like syndrome, PEHO-like syndrome |
| RS2104666055 | Health Risk | Pathogenic | — |
| RS2104688806 | Health Risk | Pathogenic | — |
| RS2104690231 | Health Risk | Pathogenic | PEHO-like syndrome, PEHO-like syndrome |
| RS2104690304 | Health Risk | Pathogenic | — |
| RS2104720906 | Health Risk | Pathogenic | — |
| RS2104730145 | Health Risk | Pathogenic | — |
| RS2104730296 | Health Risk | Pathogenic | — |
| RS2104822324 | Health Risk | Pathogenic | — |
| RS2529535269 | Health Risk | Pathogenic | — |
| RS2544836344 | Health Risk | Pathogenic | — |
| RS2544836633 | Health Risk | Pathogenic | — |
| RS2544851865 | Health Risk | Pathogenic | — |
| RS2544915127 | Health Risk | Pathogenic | — |
| RS746631923 | Health Risk | Pathogenic | — |
| RS879255649 | Health Risk | Pathogenic | PEHO-like syndrome, PEHO-like syndrome |