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C2cd3 Gene Detail
Summary
  • Symbol
    C2cd3
  • Name
    C2 calcium-dependent domain containing 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:2142166
    NCBI Gene: 277939
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:100021440-100119359 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 54.35 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    800 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2142166
 protein coding gene Chr7:100021440-100119366 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032568
 protein coding gene Chr7:103248015-103350696 (+)
A/J MGP_AJ_G0032542
 protein coding gene Chr7:100654246-100752458 (+)
AKR/J MGP_AKRJ_G0032478
 protein coding gene Chr7:103051333-103151579 (+)
BALB/cJ MGP_BALBcJ_G0032553
 protein coding gene Chr7:100328695-100426808 (+)
C3H/HeJ MGP_C3HHeJ_G0032268
 protein coding gene Chr7:103417225-103530540 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033051
 protein coding gene Chr7:107171017-107278608 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030045
 protein coding gene Chr7:103056493-103155760 (+)
CAST/EiJ MGP_CASTEiJ_G0031595
 protein coding gene Chr7:94964568-95068262 (+)
CBA/J MGP_CBAJ_G0032235
 protein coding gene Chr7:110846364-110956553 (+)
DBA/2J MGP_DBA2J_G0032386
 protein coding gene Chr7:98983865-99086757 (+)
FVB/NJ MGP_FVBNJ_G0032343
 protein coding gene Chr7:98772596-98869949 (+)
LP/J MGP_LPJ_G0032476
 protein coding gene Chr7:104602905-104702970 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032376
 protein coding gene Chr7:112278273-112383772 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033073
 protein coding gene Chr7:102313251-102414519 (+)
PWK/PhJ MGP_PWKPhJ_G0031313
 protein coding gene Chr7:92090435-92193333 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031156
 protein coding gene Chr7:89622981-89728498 (+)
WSB/EiJ MGP_WSBEiJ_G0031712
 protein coding gene Chr7:103016496-103116018 (+)



Homology
more
  • Human Ortholog
    C2CD3, C2 domain containing 3 centriole elongation regulator
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C2CD3, C2 domain containing 3 centriole elongation regulator
  • Synonyms
    OFD14
  • Links
    NCBI Gene ID: 26005
    neXtProt AC: NX_Q4AC94
    UniProt: Q4AC94

  • Chr Location
    11q13.4; chr11:74012718-74171210 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human C2CD3 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    30 phenotypes from 7 alleles in 8 genetic backgrounds
    21 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.
Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    7
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
non-membrane-bounded 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
    740
  • Tissues
    22
  • cDNA Data
    133
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000047248 Ensembl Gene Model | MGI Sequence Detail 97920 C57BL/6J ±  kb
    transcript ENSMUST00000051777 Ensembl | MGI Sequence Detail 7803 Not Applicable  
    polypeptide ENSMUSP00000062637 Ensembl | MGI Sequence Detail 2323 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 134
      cDNA 133
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 21
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:308674 Chang CF, et al., Centriolar Protein C2cd3 Is Required for Craniofacial Development. Front Cell Dev Biol. 2021;9:647391
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory