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Ccdc88a Gene Detail
Summary
  • Symbol
    Ccdc88a
  • Name
    coiled coil domain containing 88A
  • Synonyms
    A430106J12Rik, C130096N06Rik, C330012F17Rik, D130005J21Rik, Girdin, GIV, HkRP1, mKIAA1212
  • Feature Type
    protein coding gene
  • IDs
    MGI:1925177
    NCBI Gene: 108686
  • Gene Overview
    MyGene.info: CCDC88A
Location & Maps
more
  • Sequence Map
    Chr11:29373658-29510808 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      137151 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 16.61 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CCDC88A, coiled-coil domain containing 88A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CCDC88A, coiled-coil domain containing 88A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    APE, GIRDIN, GIV, GRDN, HkRP1, KIAA1212, PEHO
  • Links
    NCBI Gene ID: 55704
    neXtProt AC: NX_Q3V6T2

  • Chr Location
    2p16.1; chr2:55287842-55419921 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CCDC88A associations

Human Disease Mouse Models
       Peho Syndrome; PEHO   OMIM: 260565
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 4 alleles in 3 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Gene trapped
    3
  • Targeted
    6
  • Genomic Mutations
    1 involving Ccdc88a
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005327 VEGA Gene Model | MGI Sequence Detail 137151 C57BL/6J ±  kb
transcript OTTMUST00000011875 VEGA | MGI Sequence Detail 9376 Not Applicable  
polypeptide OTTMUSP00000005499 VEGA | MGI Sequence Detail 1845 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    886 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 26
    cDNA 25
    Primer pair 1

    Microarray probesets 7
Other
Accession IDs
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MGI:1915538, MGI:2144295, MGI:2442608, MGI:2443604
References
more
  • Summaries
    All 43
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 17
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:228692 Muramatsu A, et al., Potential involvement of kinesin-1 in the regulation of subcellular localization of Girdin. Biochem Biophys Res Commun. 2015 Aug 7;463(4):999-1005

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory