2. Gene
  3. CCDC88A - coiled-coil domain containing 88A Gene

CCDC88A - coiled-coil domain containing 88A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as APE; GIV; GRDN; PEHO; HkRP1; PEHOL; GIRDIN; KIAA1212

Gene ID: 55704 | Gene type: protein coding

About CCDC88A

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:55,287,842-55,419,856 (from NCBI)

This gene has 67 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 20.8), brain (RPKM 15.3) and 23 other tissues.

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]

CCDC88A Products(4)

mRNA Protein Name
NM_001135597.2 NP_001129069.1 girdin isoform 1
NM_001254943.2 NP_001241872.1 girdin isoform 3
NM_001365480.1 NP_001352409.1 girdin isoform 4
NM_018084.5 NP_060554.3 girdin isoform 2

CCDC88A Protein Structure

HOOK

HOOK: HOOK protein (15 - 567)

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  • 1871 a.a.
Protein Preferred Names Protein Names

girdin

AKT-phosphorylation enhancer

Related Diseases

Diseases Alias
Peho-Like Syndrome

Peho Syndrome-Like

PEHOL

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome
Bilateral Polymicrogyria
Hemangioma Of Lung

Pulmonary Hemangioma
Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome
Gliofibroma
Polymicrogyria

Pmg
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02061 CCDC88A Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus CCDC88A VGNC VGNC:26927
Canis familiaris CCDC88A VGNC VGNC:38867
Rattus norvegicus CCDC88A RGD RGD:1306694
Mus musculus CCDC88A MGD MGI:1925177
Felis catus CCDC88A VGNC VGNC:80058
Macaca mulatta CCDC88A VGNC VGNC:70860