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CCDC88A Gene

protein-coding   GIFtS: 53
GCID: GC02M055514

Coiled-Coil Domain Containing 88A

(Previous name: KIAA1212)
(Previous symbol: KIAA1212)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coiled-Coil Domain Containing 88A1 2     GRDN2 3
KIAA12121 2 3 5     HkRP12 3
APE2 3 5     Hook-Related Protein 12 3
GIV2 3 5     GIRDIN2 5
Akt-Phosphorylation Enhancer1 2     Galpha-Interacting Vesicle-Associated Protein1
Girders Of Actin Filaments1 2     Akt Phosphorylation Enhancer3
girdin1 2     Coiled-Coil Domain-Containing Protein 88A3
G Alpha-Interacting Vesicle-Associated Protein2 3     HKRP15
Girders Of Actin Filament2 3     

External Ids:    HGNC: 255231   Entrez Gene: 557042   Ensembl: ENSG000001153557   OMIM: 6097365   UniProtKB: Q3V6T23   

Export aliases for CCDC88A gene to outside databases

Previous GC identifers: GC02M055368 GC02M055250


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 schizophrenia, and colorectal cancer. GO annotations related to this gene include microtubule binding and protein homodimerization activity. An important paralog of this gene is HOOK2.

UniProtKB/Swiss-Prot: GRDN_HUMAN, Q3V6T2
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 Wiki entry for CCDC88A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC88A gene promoter:
         CUTL1   E47   FOXL1   RORalpha2   PPAR-alpha   SRY   FOXO4   Hand1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC88A promoter sequence
   Search Chromatin IP Primers for CCDC88A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC88A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p16.1   Ensembl cytogenetic band:  2p16.1   HGNC cytogenetic band: 2p16.3

CCDC88A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC88A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M055514:  view genomic region     (about GC identifiers)

Start:
55,514,978 bp from pter      End:
55,647,057 bp from pter
Size:
132,080 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GRDN_HUMAN, Q3V6T2 (See protein sequence)
Recommended Name: Girdin  
Size: 1871 amino acids; 216042 Da
Subunit: 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
Sequence caution: Sequence=AAY14932.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAD97945.1; Type=Miscellaneous discrepancy; Note=Intron retention at the C-terminus;
Sequence=CAI46020.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A1IGE7 B7ZM78 C9JG83 Q53SF1 Q581G3 Q5HYD0 Q7Z339 Q7Z3C5
Alternative splicing: 5 isoforms:  Q3V6T2-1   Q3V6T2-2   Q3V6T2-3   Q3V6T2-4   Q3V6T2-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC88A: NX_Q3V6T2

Explore proteomics data for CCDC88A at MOPED

Post-translational modifications: 

  • 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
    migration1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC88A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001129069.1  NP_001241872.1  NP_060554.3  

    ENSEMBL proteins: 
     ENSP00000338728   ENSP00000263630   ENSP00000413401   ENSP00000390012   ENSP00000405080  
     ENSP00000415267   ENSP00000399237   ENSP00000410608   ENSP00000404431   ENSP00000387974  

    CCDC88A Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

    CCDC88A Antibody Products:

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    R&D Systems Antibodies for CCDC88A (Girdin)
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027717 Girdin
     IPR008636 Hook-related_fam

    Graphical View of Domain Structure for InterPro Entry Q3V6T2

    ProtoNet protein and cluster: Q3V6T2

    UniProtKB/Swiss-Prot: GRDN_HUMAN, Q3V6T2
    Similarity: Belongs to the CCDC88 family


    CCDC88A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GRDN_HUMAN, Q3V6T2
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA16139227
    GO:0005515protein binding ----
    GO:0008017microtubule binding ISS--
    GO:0035091phosphatidylinositol binding IDA16139227
    GO:0042803protein homodimerization activity IPI16139227
         
    CCDC88A for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ccdc88a):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  mortality/aging 
     nervous system  vision/eye 

    CCDC88A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ccdc88atm2.1Mat for CCDC88A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC88A
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    miRNA
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    miRTarBase miRNAs that target CCDC88A:
    hsa-mir-375 (MIRT019700)

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    Selected qRT-PCR Assays for microRNAs that regulate CCDC88A (see all 113):
    hsa-miR-520e hsa-miR-607 hsa-miR-3146 hsa-miR-199a-3p hsa-miR-128 hsa-miR-3653 hsa-miR-578 hsa-miR-519a
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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GRDN_HUMAN, Q3V6T2: Membrane. Cell membrane. Cytoplasm, cytosol. Cytoplasmic vesicle. Cell projection,
    lamellipodium. Note=Localizes to the cell membrane through interaction with phosphoinositides
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane5
    nucleus3
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA15882442
    GO:0005794Golgi apparatus IDA15882442
    GO:0005829cytosol IDA15749703
    GO:0005886plasma membrane IDA15882442
    GO:0016020membrane IDA15749703

    CCDC88A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCDC88A
    Interactions:

        GeneGlobe Interaction Network for CCDC88A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for CCDC88A (Q3V6T23 ENSP000003387284) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI53, ENSP000003555964I2D: score=2 STRING: ENSP00000355596
    NDEL1Q9GZM83, ENSP000003339824I2D: score=2 STRING: ENSP00000333982
    PARD3Q8TEW03, ENSP000003639214I2D: score=2 STRING: ENSP00000363921
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    YWHAHQ049173, ENSP000002489754I2D: score=2 STRING: ENSP00000248975
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001932regulation of protein phosphorylation ISS--
    GO:0006260DNA replication IEA--
    GO:0006275regulation of DNA replication ISS--
    GO:0010975regulation of neuron projection development ISS--
    GO:0016192vesicle-mediated transport ----

    CCDC88A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CCDC88A (GRDN)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CCDC88A gene (3 alternative transcripts): 
    NM_001135597.1  NM_001254943.1  NM_018084.4  

    Unigene Cluster for CCDC88A:

    Coiled-coil domain containing 88A
    Hs.292925  [show with all ESTs]
    Unigene Representative Sequence: NM_001135597
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336838(uc002ryt.2 uc010fbw.2 uc002rys.3 uc002ryu.2)
    ENST00000263630 ENST00000444458 ENST00000412148 ENST00000426576(uc010fby.1 uc002ryw.3)
    ENST00000456975 ENST00000474059 ENST00000476903 ENST00000468534 ENST00000430086
    ENST00000471947(uc010fbz.3) ENST00000436346(uc010ypa.1 uc002ryv.2 uc010yoz.1)
    ENST00000413716(uc010ypb.1) ENST00000422883
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CCDC88A (see all 113):
    hsa-miR-520e hsa-miR-607 hsa-miR-3146 hsa-miR-199a-3p hsa-miR-128 hsa-miR-3653 hsa-miR-578 hsa-miR-519a
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      QuantiFast Probe-based Assays in human, mouse, rat CCDC88A

    Additional mRNA sequence: 

    AB033038.2 AB125644.1 AB201172.1 AF112218.1 AK001254.1 AK024717.1 AK025723.1 AK124603.1 
    AK299823.1 AK307964.1 BC014905.1 BC015539.1 BC032683.1 BC041160.1 BC045829.1 BC056885.1 
    BC060037.1 BC078168.1 BC092515.1 BC132736.1 BC142646.1 BC142700.1 BC144320.1 BX537985.1 
    BX538154.1 BX647874.1 BX648138.1 D64159.1 

    19 DOTS entries:

    DT.40271507  DT.95099688  DT.40119135  DT.91911308  DT.100645964  DT.306982  DT.120951222  DT.86853997 
    DT.100645965  DT.120951189  DT.75149823  DT.97819542  DT.120951263  DT.451778  DT.91663454  DT.95303896 
    DT.120951243  DT.91922408  DT.97790164 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CCDC88A (see all 13)    About this scheme

    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:                                                                                                                                      -                     

    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:  -                                               -                       -     -                                                         


    ECgene alternative splicing isoforms for CCDC88A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CCDC88A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAGATATT
    CCDC88A Expression
    About this image


    CCDC88A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Testis (Reproductive System)
    CCDC88A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC88A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.292925

    UniProtKB/Swiss-Prot: GRDN_HUMAN, Q3V6T2
    Tissue specificity: Expressed ubiquitously

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CCDC88A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc88a1 , 5 coiled coil domain containing 88A1, 5 90.9(n)1
    94.84(a)1
      11 (16.61 cM)5
    1086861  NM_176841.41  NP_789811.21 
     293736585 
    chicken
    (Gallus gallus)
    Aves CCDC88A1 coiled-coil domain containing 88A 79.5(n)
    83.07(a)
      421210  XM_004940104.1  XP_004940161.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC88A6
    coiled-coil domain containing 88A
    85(a)
    1 ↔ 1
    1(255800962-255940358)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc88a1 coiled-coil domain containing 88A 74.04(n)
    79.31(a)
      100380128  XM_004914730.1  XP_004914787.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc88aa6
    coiled-coil domain containing 88Aa
    57(a)
    1 ↔ 1
    6(6218020-6263372) ENSDARG00000078440
    fruit fly
    (Drosophila melanogaster)
    Insecta Girdin6
    Girdin
    30(a)
    1 → many
    3L(3178930-3185287)
    worm
    (Caenorhabditis elegans)
    Secernentea grdn-16
    Protein Y51A2D.15, isoform a (Y51A2D.15) mRNA, com...
    23(a)
    1 → many
    V(18592757-18613944) WBGene00013082


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC88A gene
    HOOK22  HOOK12  CCDC88C2  HOOK32  CCDC88B2  
    3 SIMAP similar genes for CCDC88A using alignment to 10 protein entries:     GRDN_HUMAN (see all proteins):
    KIAA1212    CCDC88C    CCDC88B

    CCDC88A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CCDC88A (see all 3124)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1867795291,2
    --55259601(+) TATATA/TATATA 3 -- int10--------
    rs1387865041,2
    C--55264790(+) CAGAC-/ACTT  
            
    AATGT
    3 -- int10--------
    rs30600781,2
    C--55301641(+) cataa-/CAAgttaa 6 -- int1 cds11Minor allele frequency- CAA:0.00NA 2
    rs579193751,2
    C,F--55303422(+) TCTTTC/TTTTTT 3 -- int12Minor allele frequency- T:0.50WA CSA 4
    rs739396041,2
    --55322151(+) GCTAAC/AAACAA 3 -- int11Minor allele frequency- A:0.50WA 2
    rs1400192161,2
    C--55322151(+) CTAAC-/AACAAAAACAAA/A
    ACAAAAACAAAAACAAA
    AACAA
    6 -- cds10--------
    rs1413954951,2
    --55378817(+) GTCAA-/ATAAATAA
    ATAAATAAAT
    ATATA
    3 -- int10--------
    rs14544171,2
    C--55378832(+) aaataT/Aatata 3 -- int11Minor allele frequency- A:0.00NA 2
    rs1889987671,2
    --55378860(+) ATATAA/TATATA 3 -- int10--------
    rs111255711,2
    C--55378873(+) TATATA/GTATGT 3 -- int13Minor allele frequency- G:0.27NA 124

    HapMap Linkage Disequilibrium report for CCDC88A (55514978 - 55647057 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCDC88A (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720088CNV Deletion23290073
    esv2720089CNV Deletion23290073
    esv2669895CNV Deletion23128226
    esv1574765CNV Insertion17803354
    esv1672727CNV Insertion17803354
    nsv524437CNV Loss19592680
    nsv874156CNV Loss21882294
    nsv520581CNV Loss19592680
    nsv457941CNV Loss19166990
    dgv4145n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC88A
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC88A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609736    OMIM disorders: --

    4 diseases for CCDC88A:    
    About MalaCards
    schizophrenia    colorectal cancer    breast cancer    neuronitis


    CCDC88A for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CCDC88A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 3 20515748 (3), 18316593 (1)

    Genetic Association Database (GAD): CCDC88A
    Human Genome Epidemiology (HuGE) Navigator: CCDC88A (1 document)

    Export disorders for CCDC88A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CCDC88A gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with CCDC88A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of GIV, a novel Galpha i/s- interacting protein found on COPI, endoplasmic reticulum-Golgi transport vesicles. (PubMed id 15749703)1, 2, 3 Le-Niculescu H.... Farquhar M.G. (J. Biol. Chem. 2005)
    2. A novel hook-related protein family and the characterization of hook- related protein 1. (PubMed id 15882442)1, 2, 9 Simpson F.... Wicking C. (Traffic 2005)
    3. Akt/PKB regulates actin organization and cell motility via Girdin/APE. (PubMed id 16139227)1, 2, 9 Enomoto A.... Takahashi M. (Dev. Cell 2005)
    4. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (PLoS Genet. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. A novel protein kinase B (PKB)/AKT-binding protein enhances PKB kinase activity and regulates DNA synthesis. (PubMed id 15753085)1, 3 Anai M....Asano T. (J. Biol. Chem. 2005)
    7. An actin-binding protein Girdin regulates the motility of breast cancer cells. (PubMed id 18316593)1, 9 Jiang P....Takahashi M. (Cancer Res. 2008)
    8. dGirdin a new player of Akt /PKB signaling in Drosophila Melanogaster. (PubMed id 20515748)1, 9 Yamaguchi M....Takahashi M. (Front Biosci (Landmark Ed) 2010)
    9. A structural determinant that renders G alpha(i) sensitive to activation by GIV/girdin is required to promote cell migration. (PubMed id 20157114)1, 9 Garcia-Marcos M....Farquhar M.G. (J. Biol. Chem. 2010)
    10. GIV is a nonreceptor GEF for G alpha i with a unique motif that regulates Akt signaling. (PubMed id 19211784)1, 9 Garcia-Marcos M....Farquhar M.G. (Proc. Natl. Acad. Sci. U.S.A. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55704 HGNC: 25523 Ensembl:ENSG00000115355 euGenes: HUgn55704 ECgene: CCDC88A
    H-InvDB: CCDC88A

    (According to HUGE)
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    HUGE: KIAA1212

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CCDC88A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CCDC88A gene:
    Search GeneIP for patents involving CCDC88A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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