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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
  • Gene Overview
    MyGene.info: CC2D2A
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:43662373-43740975 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 23.78 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    551 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924487
protein coding gene Chr5:43662346-43740975 (.)
129S1/SvImJ MGP_129S1SvImJ_G0029523
protein coding gene Chr5:42292314-42376502 (+)
A/J MGP_AJ_G0029489
protein coding gene Chr5:40829631-40908742 (+)
AKR/J MGP_AKRJ_G0029439
protein coding gene Chr5:42276394-42360222 (+)
BALB/cJ MGP_BALBcJ_G0029500
protein coding gene Chr5:41306450-41386309 (+)
C3H/HeJ MGP_C3HHeJ_G0029223
protein coding gene Chr5:42249895-42335113 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029954
protein coding gene Chr5:44328319-44418386 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027193
protein coding gene Chr5:38063886-38142172 (+)
CAST/EiJ MGP_CASTEiJ_G0028631
protein coding gene Chr5:41364233-41451982 (+)
CBA/J MGP_CBAJ_G0029192
protein coding gene Chr5:45485654-45585083 (+)
DBA/2J MGP_DBA2J_G0029337
protein coding gene Chr5:40924076-41004813 (+)
FVB/NJ MGP_FVBNJ_G0029298
protein coding gene Chr5:40347377-40425105 (+)
LP/J MGP_LPJ_G0029423
protein coding gene Chr5:42741975-42830030 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029326
protein coding gene Chr5:46297967-46392875 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029987
protein coding gene Chr5:41760379-41854283 (+)
PWK/PhJ MGP_PWKPhJ_G0028355
protein coding gene Chr5:40052463-40131587 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028189
protein coding gene Chr5:41198241-41282737 (+)
WSB/EiJ MGP_WSBEiJ_G0028712
protein coding gene Chr5:41837543-41932101 (+)



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: HomoloGene, HGNC
  • Synonyms
    JBTS9, MKS6
  • Links
    NCBI Gene ID: 57545
    neXtProt AC: NX_Q9P2K1
    UniProt: Q9P2K1

  • Chr Location
    4p15.32; chr4:15468660-15601971 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 18159
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CC2D2A
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Cc2d2a mouse models; 2 with human CC2D2A associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 4 alleles in 4 genetic backgrounds
    21 images
    30 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    6
  • Genomic Mutations
    6 involving Cc2d2a
  • Incidental Mutations
  • Find Mice (IMSR)
Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show 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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 231214 NCBI Gene Model | MGI Sequence Detail 78603 C57BL/6J ±  kb
transcript NM_001359903 RefSeq | MGI Sequence Detail 5541 C57BL/6  
polypeptide Q8CFW7 UniProt | EBI | MGI Sequence Detail 1633 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 4
Other
Accession IDs
less
MGI:5311347
References
more
  • Summaries
    All 50
    Developmental Gene Expression 2
    Diseases 3
    Gene Ontology 6
    Phenotypes 30
  • Earliest
    J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
  • Latest
    J:237132 Burnicka-Turek O, et al., Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet. 2016 Jul 15;25(14):3011-3028

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
11/06/2018
MGI 6.13
The Jackson Laboratory