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Gjb5 Gene Detail
Summary
  • Symbol
    Gjb5
  • Name
    gap junction protein, beta 5
  • Synonyms
    Cnx31.1, connexin 31.1, Cx31.1, Gjb-5
  • Feature Type
    protein coding gene
  • IDs
    MGI:95723
    NCBI Gene: 14622
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:127248600-127251957 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 4, 61.51 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    152 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95723
protein coding gene Chr4:127248600-127251974 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028799
protein coding gene Chr4:129106823-129110195 (-)
A/J MGP_AJ_G0028758
protein coding gene Chr4:124014792-124018164 (-)
AKR/J MGP_AKRJ_G0028711
protein coding gene Chr4:127429095-127432467 (-)
BALB/cJ MGP_BALBcJ_G0028781
protein coding gene Chr4:124580519-124583891 (-)
C3H/HeJ MGP_C3HHeJ_G0028495
protein coding gene Chr4:127494553-127497925 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029223
protein coding gene Chr4:134018180-134021552 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026496
protein coding gene Chr4:117133430-117136808 (-)
CAST/EiJ MGP_CASTEiJ_G0027928
protein coding gene Chr4:125624520-125627892 (-)
CBA/J MGP_CBAJ_G0028461
protein coding gene Chr4:137287568-137290940 (-)
DBA/2J MGP_DBA2J_G0028610
protein coding gene Chr4:124454595-124457967 (-)
FVB/NJ MGP_FVBNJ_G0028577
protein coding gene Chr4:123120522-123123894 (-)
LP/J MGP_LPJ_G0028711
protein coding gene Chr4:129392249-129395621 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028603
protein coding gene Chr4:142264233-142267605 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029261
protein coding gene Chr4:127796801-127800173 (-)
PWK/PhJ MGP_PWKPhJ_G0027649
protein coding gene Chr4:120969487-120972843 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027476
protein coding gene Chr4:123621351-123624726 (-)
WSB/EiJ MGP_WSBEiJ_G0028008
protein coding gene Chr4:127902313-127905685 (-)



Homology
more
  • Human Ortholog
    GJB5, gap junction protein beta 5
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJB5, gap junction protein beta 5
  • Synonyms
    CX31.1
  • Links
    NCBI Gene ID: 2709
    neXtProt AC: NX_O95377
    UniProt: O95377

  • Chr Location
    1p34.3; chr1:34755047-34758512 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    13 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 some embryonic lethality, reduced weight and reduced placental development.
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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14622 NCBI Gene Model | MGI Sequence Detail 3358 C57BL/6J ±  kb
    transcript NM_010291 RefSeq | MGI Sequence Detail 1706 ZRU/MplStud  
    polypeptide Q02739 UniProt | EBI | MGI Sequence Detail 271 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      Genomic 3
      cDNA 39
      Primer pair 5
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10095, MGD-MRK-10100
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 13
      Gene Ontology 5
      Phenotypes 13
    • Earliest
      J:2128 Hennemann H, et al., Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. J Biol Chem. 1992 Aug 25;267(24):17225-33
    • Latest
      J:331268 Ding Y, et al., A phenotype-based forward genetic screen identifies Dnajb6 as a sick sinus syndrome gene. Elife. 2022 Oct 18;11

    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)
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    last database update
    10/01/2024
    MGI 6.24
    The Jackson Laboratory