About   Help   FAQ
Cacng2 Gene Detail
Summary
  • Symbol
    Cacng2
  • Name
    calcium channel, voltage-dependent, gamma subunit 2
  • Synonyms
    B230105C07Rik, B930041E13Rik, stargazin, TARP gamma 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1316660
    NCBI Gene: 12300
  • Gene Overview
    MyGene.info: CACNG2
Location & Maps
more
  • Sequence Map
    Chr15:77991748-78120028 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      128281 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 36.92 cM
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    CACNG2, calcium voltage-gated channel auxiliary subunit gamma 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNG2, calcium voltage-gated channel auxiliary subunit gamma 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MRD10
  • Links
    NCBI Gene ID: 10369
    neXtProt AC: NX_Q9Y698

  • Chr Location
    22q13.1; chr22:36560869-36702645 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CACNG2 associations

Human Disease Mouse Models
       Mental Retardation, Autosomal Dominant 10; MRD10   OMIM: 614256
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypes from 6 alleles in 8 genetic backgrounds
    14 phenotypes from multigenic genotypes
    3 images
    83 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
    32
  • Chemically induced (other)
    2
  • Gene trapped
    19
  • Radiation induced
    2
  • Spontaneous
    3
  • Targeted
    6
  • Genomic Mutations
    4 involving Cacng2
Homozygotes for mutant alleles show growth retardation, movement anomalies including ataxic gait, tremor and head tossing, and neocortical spike-wave seizures.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016425 VEGA Gene Model | MGI Sequence Detail 128281 C57BL/6J ±  kb
transcript OTTMUST00000039555 VEGA | MGI Sequence Detail 5510 Not Applicable  
polypeptide OTTMUSP00000017670 VEGA | MGI Sequence Detail 323 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    661 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004951 voltage-dependent calcium channel gamma-2 subunit
  • PDB
  • InterPro Domains
    IPR004031 PMP-22/EMP/MP20/Claudin superfamily
    IPR005422 Voltage-dependent calcium channel, gamma-2 subunit
    IPR008368 Voltage-dependent calcium channel, gamma subunit
Molecular
Reagents
less
  • All nucleic 27
    Genomic 4
    cDNA 21
    Primer pair 2

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-14624, MGD-MRK-15425, MGI:1925228, MGI:2146187, MGI:98432
References
more
  • Summaries
    All 116
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 10
    Phenotypes 83
  • Earliest
    J:11008 Noebels JL, et al., Stargazer: a new neurological mutant on chromosome 15 in the mouse with prolonged cortical seizures [published erratum appears in Epilepsy Res 1992 Mar;11(1):72]. Epilepsy Res. 1990 Nov;7(2):129-35
  • Latest
    J:231740 Yamasaki M, et al., TARP gamma-2 and gamma-8 Differentially Control AMPAR Density Across Schaffer Collateral/Commissural Synapses in the Hippocampal CA1 Area. J Neurosci. 2016 Apr 13;36(15):4296-312

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/27/2016
MGI 6.05
The Jackson Laboratory