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Aliases for CCDC88A Gene

Aliases for CCDC88A Gene

  • Coiled-Coil Domain Containing 88A 2 3 5
  • KIAA1212 2 3 4
  • G Alpha-Interacting Vesicle-Associated Protein 3 4
  • Girders Of Actin Filaments 2 3
  • Girders Of Actin Filament 3 4
  • Hook-Related Protein 1 3 4
  • Girdin 2 3
  • HkRP1 3 4
  • GRDN 3 4
  • APE 3 4
  • GIV 3 4
  • Galpha-Interacting Vesicle-Associated Protein 2
  • Coiled-Coil Domain-Containing Protein 88A 4
  • Akt-Phosphorylation Enhancer 2
  • AKT-Phosphorylation Enhancer 3
  • Akt Phosphorylation Enhancer 4
  • PEHO 3

External Ids for CCDC88A Gene

Previous HGNC Symbols for CCDC88A Gene

  • KIAA1212

Previous GeneCards Identifiers for CCDC88A Gene

  • GC02M055368
  • GC02M055514

Summaries for CCDC88A Gene

Entrez Gene Summary for CCDC88A Gene

  • 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]

GeneCards Summary for CCDC88A Gene

CCDC88A (Coiled-Coil Domain Containing 88A) is a Protein Coding gene. Diseases associated with CCDC88A include Peho Syndrome and Malignant Ependymoma. Among its related pathways are Tyrosine Kinases / Adaptors and Cytoskeletal Signaling. GO annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CCDC88C.

UniProtKB/Swiss-Prot for CCDC88A Gene

  • Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself. Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Essential for the integrity of the actin cytoskeleton and for cell migration. Required for formation of actin stress fibers and lamellipodia. May be involved in membrane sorting in the early endosome.

Gene Wiki entry for CCDC88A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC88A Gene

Genomics for CCDC88A Gene

Regulatory Elements for CCDC88A Gene

Enhancers for CCDC88A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F055417 1.2 ENCODE 24.5 +0.8 793 3.7 PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CCDC88A CFAP36 CLHC1 GC02P055419 PIR31107 GC02M055419
GH02F055424 1 Ensembl ENCODE 20.4 -5.6 -5588 1.8 TBP KLF1 TAF1 JUN MAX BRCA1 RFX5 ZKSCAN1 ZNF316 TRIM24 CCDC88A PRORSD1P RTN4 ENSG00000203327 GC02M055435
GH02F055432 0.7 Ensembl 18.2 -12.2 -12181 0.2 CTCF ZNF654 TRIM22 ZNF384 RAD21 RFX5 ZNF316 MAFF ZNF143 STAT3 CCDC88A RNU6-221P PRORSD1P GC02M055435
GH02F055281 1.1 ENCODE 11.4 +137.3 137291 2.7 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CLHC1 PRORSD1P CCDC88A ENSG00000203327 MTIF2 ENSG00000240401 GC02P055286
GH02F055292 1.1 Ensembl 10.5 +127.4 127421 1.0 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 LOC100128027 CCDC88A RPS27A ENSG00000203327 ENSG00000206964 GC02P055385
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC88A on UCSC Golden Path with GeneCards custom track

Promoters for CCDC88A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001542515 1221 5001 PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for CCDC88A Gene

Chromosome:
2
Start:
55,287,842 bp from pter
End:
55,419,921 bp from pter
Size:
132,080 bases
Orientation:
Minus strand

Genomic View for CCDC88A Gene

Genes around CCDC88A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC88A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC88A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC88A Gene

Proteins for CCDC88A Gene

  • Protein details for CCDC88A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3V6T2-GRDN_HUMAN
    Recommended name:
    Girdin
    Protein Accession:
    Q3V6T2
    Secondary Accessions:
    • A1IGE7
    • B7ZM78
    • C9JG83
    • Q53SF1
    • Q581G3
    • Q5HYD0
    • Q7Z339
    • Q7Z3C5

    Protein attributes for CCDC88A Gene

    Size:
    1871 amino acids
    Molecular mass:
    216042 Da
    Quaternary structure:
    • Interacts (via C-terminus) with DISC1; the interaction is direct. Interacts with AKT proteins; the interaction is inhibited in presence of DISC1 (By similarity). Homodimer. The non-phosphorylated form interacts with phosphatidylinositol 4-phosphate [PI(4)P] and weakly with phosphatidylinositol 3-phosphate [PI(3)P]. Interacts with microtubules. Interacts with actin through its C-terminal domain. Interacts with the C-terminus of AKT1/PKB.
    SequenceCaution:
    • Sequence=AAY14932.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD97945.1; Type=Miscellaneous discrepancy; Note=Intron retention at the C-terminus.; Evidence={ECO:0000305}; Sequence=CAI46020.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC88A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC88A Gene

Post-translational modifications for CCDC88A Gene

  • Phosphorylation is induced by epidermal growth factor (EGF) in a phosphoinositide 3-kinase (PI3K)-dependent manner. Phosphorylation by AKT1/PKB is necessary for the delocalization from the cell membrane and for cell migration.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CCDC88A (girdin)
  • Santa Cruz Biotechnology (SCBT) Antibodies for CCDC88A

No data available for DME Specific Peptides for CCDC88A Gene

Domains & Families for CCDC88A Gene

Protein Domains for CCDC88A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q3V6T2

UniProtKB/Swiss-Prot:

GRDN_HUMAN :
  • Belongs to the CCDC88 family.
Family:
  • Belongs to the CCDC88 family.
genes like me logo Genes that share domains with CCDC88A: view

No data available for Gene Families for CCDC88A Gene

Function for CCDC88A Gene

Molecular function for CCDC88A Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. Enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself. Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Essential for the integrity of the actin cytoskeleton and for cell migration. Required for formation of actin stress fibers and lamellipodia. May be involved in membrane sorting in the early endosome.

Gene Ontology (GO) - Molecular Function for CCDC88A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 16139227
GO:0008017 microtubule binding ISS --
GO:0035091 phosphatidylinositol binding IDA 16139227
GO:0042803 protein homodimerization activity IPI 16139227
GO:0043422 protein kinase B binding IPI 16139227
genes like me logo Genes that share ontologies with CCDC88A: view
genes like me logo Genes that share phenotypes with CCDC88A: view

Animal Models for CCDC88A Gene

MGI Knock Outs for CCDC88A:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC88A Gene

Localization for CCDC88A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC88A Gene

Membrane. Cell membrane. Cytoplasm, cytosol. Cytoplasmic vesicle. Cell projection, lamellipodium. Note=Localizes to the cell membrane through interaction with phosphoinositides. {ECO:0000269 PubMed:15882442, ECO:0000269 PubMed:16139227}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC88A gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
nucleus 3

Gene Ontology (GO) - Cellular Components for CCDC88A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA 15882442
GO:0005794 Golgi apparatus IDA 15882442
GO:0005813 centrosome IBA --
GO:0005814 centriole IDA 27623382
genes like me logo Genes that share ontologies with CCDC88A: view

Pathways & Interactions for CCDC88A Gene

genes like me logo Genes that share pathways with CCDC88A: view

Pathways by source for CCDC88A Gene

2 Cell Signaling Technology pathways for CCDC88A Gene

SIGNOR curated interactions for CCDC88A Gene

Other effect:

Gene Ontology (GO) - Biological Process for CCDC88A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation ISS --
GO:0006260 DNA replication IEA --
GO:0006275 regulation of DNA replication ISS --
GO:0007399 nervous system development IEA --
GO:0010975 regulation of neuron projection development ISS --
genes like me logo Genes that share ontologies with CCDC88A: view

Transcripts for CCDC88A Gene

mRNA/cDNA for CCDC88A Gene

(16) REFSEQ mRNAs :
(28) Additional mRNA sequences :
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC88A Gene

Coiled-coil domain containing 88A:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC88A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b · 32c · 32d ^ 33 ^ 34 ^ 35a · 35b
SP1: - - -
SP2: - - - - - -
SP3: - - - - -
SP4:
SP5: - - - -
SP6: - -
SP7: -
SP8: - - - - - -
SP9:
SP10: - -
SP11:
SP12:
SP13:

Relevant External Links for CCDC88A Gene

GeneLoc Exon Structure for
CCDC88A
ECgene alternative splicing isoforms for
CCDC88A

Expression for CCDC88A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC88A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC88A Gene

This gene is overexpressed in Ovary (15.3), Peripheral blood mononuclear cells (9.4), and Fetal Brain (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC88A Gene



Protein tissue co-expression partners for CCDC88A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC88A Gene:

CCDC88A

SOURCE GeneReport for Unigene cluster for CCDC88A Gene:

Hs.292925

mRNA Expression by UniProt/SwissProt for CCDC88A Gene:

Q3V6T2-GRDN_HUMAN
Tissue specificity: Expressed ubiquitously.
genes like me logo Genes that share expression patterns with CCDC88A: view

Primer Products

No data available for mRNA differential expression in normal tissues for CCDC88A Gene

Orthologs for CCDC88A Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC88A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC88A 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia CCDC88A 34 35
  • 93.99 (n)
cow
(Bos Taurus)
Mammalia CCDC88A 34 35
  • 93.89 (n)
mouse
(Mus musculus)
Mammalia Ccdc88a 34 16 35
  • 90.9 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc88a 34
  • 90.4 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC88A 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC88A 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC88A 34 35
  • 79.5 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC88A 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc88a 34
  • 74.04 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc88aa 35
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Girdin 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grdn-1 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3137 35
  • 38 (a)
OneToMany
Species where no ortholog for CCDC88A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCDC88A Gene

ENSEMBL:
Gene Tree for CCDC88A (if available)
TreeFam:
Gene Tree for CCDC88A (if available)

Paralogs for CCDC88A Gene

Paralogs for CCDC88A Gene

genes like me logo Genes that share paralogs with CCDC88A: view

Variants for CCDC88A Gene

Sequence variations from dbSNP and Humsavar for CCDC88A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs879255649 Pathogenic 55,334,506(-) AACTT(-/T)AGAGA intron-variant, reference, frameshift-variant
rs10153861 -- 55,317,486(+) ATGTG(C/T)ttaat intron-variant
rs10169395 -- 55,401,800(+) CGAAA(C/G)TTGGA intron-variant
rs10169760 -- 55,301,123(+) ATGAC(A/G)CATTC intron-variant
rs10172058 -- 55,402,236(+) TATAA(C/G)TTTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC88A Gene

Variant ID Type Subtype PubMed ID
esv1574765 CNV insertion 17803354
esv1672727 CNV insertion 17803354
esv2669895 CNV deletion 23128226
esv2720088 CNV deletion 23290073
esv2720089 CNV deletion 23290073
esv275364 CNV loss 21479260
esv3590854 CNV loss 21293372
esv3590855 CNV loss 21293372
nsv1109249 CNV deletion 24896259
nsv1123327 CNV deletion 24896259
nsv1134864 CNV deletion 24896259
nsv1138776 CNV deletion 24896259
nsv457941 CNV loss 19166990
nsv520581 CNV loss 19592680
nsv522016 CNV gain 19592680
nsv524437 CNV loss 19592680
nsv582030 CNV loss 21841781

Variation tolerance for CCDC88A Gene

Residual Variation Intolerance Score: 2.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC88A Gene

Human Gene Mutation Database (HGMD)
CCDC88A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC88A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC88A Gene

Disorders for CCDC88A Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC88A Gene - From: ClinVar, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
peho syndrome
  • infantile cerebellooptic atrophy
malignant ependymoma
  • ependymal neoplasm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC88A

Genetic Association Database (GAD)
CCDC88A
Human Genome Epidemiology (HuGE) Navigator
CCDC88A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC88A
genes like me logo Genes that share disorders with CCDC88A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC88A Gene

Publications for CCDC88A Gene

  1. Identification and characterization of GIV, a novel Galpha i/s- interacting protein found on COPI, endoplasmic reticulum-Golgi transport vesicles. (PMID: 15749703) Le-Niculescu H. … Farquhar M.G. (J. Biol. Chem. 2005) 2 3 4 64
  2. A novel hook-related protein family and the characterization of hook- related protein 1. (PMID: 15882442) Simpson F. … Wicking C. (Traffic 2005) 3 4 22 64
  3. Akt/PKB regulates actin organization and cell motility via Girdin/APE. (PMID: 16139227) Enomoto A. … Takahashi M. (Dev. Cell 2005) 3 4 22 64
  4. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A. … Haiman C.A. (PLoS Genet. 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for CCDC88A Gene

Sources for CCDC88A Gene

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