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Cc2d2a Gene Detail
Summary
  • Symbol
    Cc2d2a
  • Name
    coiled-coil and C2 domain containing 2A
  • Synonyms
    5730509K17Rik, b2b1035Clo
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924487
    NCBI Gene: 231214
Location & Maps
more
  • Sequence Map
    Chr5:43662346-43740972 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      78627 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CC2D2A, coiled-coil and C2 domain containing 2A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CC2D2A, coiled-coil and C2 domain containing 2A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    JBTS9, MKS6
  • Links
    NCBI Gene ID: 57545
    neXtProt AC: NX_Q9P2K1

  • Chr Location
    4p15.32; chr4:15469861-15601971 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human CC2D2A associations

Human Disease Mouse Models
       COACH Syndrome   OMIM: 216360
Joubert Syndrome 9; JBTS9   OMIM: 612285
Meckel Syndrome, Type 6; MKS6   OMIM: 612284
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 3 alleles in 3 genetic backgrounds
    21 images
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    5
  • Genomic Mutations
    6 involving Cc2d2a
  • Incidental Mutations
Mice homozygous for a gene trap allele exhibit randomized body axis, holoprosencephaly, and microphthalmia. Mice homozygous for an ENU-induced allele display heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate.
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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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018224 VEGA Gene Model | MGI Sequence Detail 78627 C57BL/6J ±  kb
transcript OTTMUST00000044029 VEGA | MGI Sequence Detail 5484 Not Applicable  
polypeptide OTTMUSP00000019776 VEGA | MGI Sequence Detail 1633 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    555 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000005093 coiled-coil and C2 domain-containing protein 2A
  • InterPro Domains
    IPR000008 C2 domain
    IPR028928 CC2D2A, N-terminal, C2 domain
Molecular
Reagents
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  • All nucleic 6
    cDNA 6

    Microarray probesets 4
Other
Accession IDs
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MGI:5311347
References
more
  • Summaries
    All 28
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 5
    Phenotypes 27
  • 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:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory