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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:43819715-43898317 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 23.78 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2809 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 Chr5:43819688-43898317 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CC2D2A, coiled-coil and C2 domain containing 2A
  • Synonyms
    COACH2, JBTS9, MKS6, RP93
  • Links
    NCBI Gene ID: 57545
    neXtProt AC: NX_Q9P2K1
    UniProt: Q9P2K1

  • Chr Location
    4p15.32; chr4:15469865-15601557 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cc2d2a mouse models; 4 with human CC2D2A associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
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
less
  • Phenotype Summary
    56 phenotypes from 4 alleles in 4 genetic backgrounds
    21 images
    37 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.
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
less
  • All GO Annotations
    30
  • GO References
    9
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    708
  • Tissues
    2
  • cDNA Data
    7
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 8
      cDNA 7
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:5311347
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 3
      Diseases 3
      Gene Ontology 9
      Phenotypes 37
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory