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Gjd2 Gene Detail
Summary
  • Symbol
    Gjd2
  • Name
    gap junction protein, delta 2
  • Synonyms
    connexin36, Cx36, Gja9
  • Feature Type
    protein coding gene
  • IDs
    MGI:1334209
    NCBI Gene: 14617
  • Gene Overview
    MyGene.info: GJD2
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:114009601-114013619 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 57.54 cM, cytoband F3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    20 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1334209
protein coding gene Chr2:114009601-114014399 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026300
protein coding gene Chr2:116481745-116485763 (-)
A/J MGP_AJ_G0026261
protein coding gene Chr2:111751345-111755365 (-)
AKR/J MGP_AKRJ_G0026240
protein coding gene Chr2:114854041-114858061 (-)
BALB/cJ MGP_BALBcJ_G0026274
protein coding gene Chr2:111978268-111982288 (-)
C3H/HeJ MGP_C3HHeJ_G0026019
protein coding gene Chr2:115279970-115283988 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026721
protein coding gene Chr2:120339579-120343597 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024101
protein coding gene Chr2:106910832-106914868 (-)
CAST/EiJ MGP_CASTEiJ_G0025482
protein coding gene Chr2:115583339-115587356 (-)
CBA/J MGP_CBAJ_G0025996
protein coding gene Chr2:124549610-124553630 (-)
DBA/2J MGP_DBA2J_G0026135
protein coding gene Chr2:111199219-111203239 (-)
FVB/NJ MGP_FVBNJ_G0026097
protein coding gene Chr2:110056539-110060559 (-)
LP/J MGP_LPJ_G0026236
protein coding gene Chr2:116787669-116791687 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026116
protein coding gene Chr2:128932907-128936927 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026776
protein coding gene Chr2:114928183-114932203 (-)
PWK/PhJ MGP_PWKPhJ_G0025218
protein coding gene Chr2:110715800-110719806 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025017
protein coding gene Chr2:114083538-114087546 (-)
WSB/EiJ MGP_WSBEiJ_G0025551
protein coding gene Chr2:115752204-115756229 (-)



Homology
more
  • Human Ortholog
    GJD2, gap junction protein delta 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GJD2, gap junction protein delta 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CX36, GJA9
  • Links
    NCBI Gene ID: 57369
    neXtProt AC: NX_Q9UKL4
    UniProt: Q9UKL4

  • Chr Location
    15q14; chr15:34751746-34754955 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 7734
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: GJD2
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 5 alleles in 5 genetic backgrounds
    95 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.
Nullizygous mutations can cause loss of electrical synapses, impaired synchronous activity of inhibitory networks, altered spike synchrony in OB glomeruli, absent coupling of alpha-ganglion cells in retina, and abnormal cued conditioning, nerve fiber andsingle cell responses, and insulin secretion.
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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000068615 Ensembl Gene Model | MGI Sequence Detail 4019 C57BL/6J ±  kb
    transcript ENSMUST00000090275 Ensembl | MGI Sequence Detail 2879 Not Applicable  
    polypeptide ENSMUSP00000087742 Ensembl | MGI Sequence Detail 321 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      Genomic 5
      cDNA 8
      Primer pair 2
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 155
      Developmental Gene Expression 16
      Gene Ontology 6
      Phenotypes 95
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:266255 Scavuzzo MA, et al., Endocrine lineage biases arise in temporally distinct endocrine progenitors during pancreatic morphogenesis. Nat Commun. 2018 Aug 22;9(1):3356

    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
    11/27/2018
    MGI 6.13
    The Jackson Laboratory