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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
Location & Maps
more
  • Sequence Map
    Chr7:100372233-100470152 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      97920 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 54.35 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    C2CD3, C2 calcium dependent domain containing 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    C2CD3, C2 calcium dependent domain containing 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    OFD14
  • Links
    NCBI Gene ID: 26005
    neXtProt AC: NX_Q4AC94

  • Chr Location
    11q13.4; chr11:74012714-74171210 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human C2CD3 associations

Human Disease Mouse Models
       Orofaciodigital Syndrome Xiv; OFD14   OMIM: 615948
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 3 genetic backgrounds
    18 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
    18
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    12
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving C2cd3
  • Incidental Mutations
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
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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 OTTMUSG00000031837 VEGA Gene Model | MGI Sequence Detail 97920 C57BL/6J ±  kb
transcript OTTMUST00000078942 VEGA | MGI Sequence Detail 7803 Not Applicable  
polypeptide OTTMUSP00000042045 VEGA | MGI Sequence Detail 2323 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    800 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000029307 C2 domain-containing protein 3
  • InterPro Domains
    IPR000008 C2 domain
Molecular
Reagents
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  • All nucleic 133
    cDNA 132
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 31
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 18
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:213635 Thauvin-Robinet C, et al., The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet. 2014 Aug;46(8):905-11

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
09/13/2016
MGI 6.05
The Jackson Laboratory