• Gene id: 219770

Gene Summary

• Gene Symbol: GJD4   Gene   UCSC   Ensembl
• Aliases: CX40.1
• Gene name: gap junction protein delta 4
• Alternate names: gap junction delta-4 protein, connexin-40.1, connexin40.1, gap junction protein, delta 4, 40.1kDa,
• Gene location: 10p11.21 (35605340: 35608934)     Exons: 2     NC_000010.11
• Gene summary(Entrez): Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin s
• OMIM: 607206

Protein Summary

• Protein general information: Q96KN9  
  • Name: Gap junction delta 4 protein (Connexin 40.1) (Cx40.1)
  • Length: 370  
  • Mass: 40140
  • Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart. {ECO
• Sequence:

  MEGVDLLGFLIITLNCNVTMVGKLWFVLTMLLRMLVIVLAGRPVYQDEQERFVCNTLQPGCANVCYDVFSPVSHL
  RFWLIQGVCVLLPSAVFSVYVLHRGATLAALGPRRCPDPREPASGQRRCPRPFGERGGLQVPDFSAGYIIHLLLR
  TLLEAAFGALHYFLFGFLAPKKFPCTRPPCTGVVDCYVSRPTEKSLLMLFLWAVSALSFLLGLADLVCSLRRRMR
  RRPGPPTSPSIRKQSGASGHAEGRRTDEEGGREEEGAPAPPGARAGGEGAGSPRRTSRVSGHTKIPDEDESEVTS
  SASEKLGRQPRGRPHREAAQDPRGSGSEEQPSAAPSRLAAPPSCSSLQPPDPPASSSGAPHLRARKSEWV

• Structural information:
  • Interpro: IPR000500  IPR019570  IPR017990  IPR013092  IPR038359  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000315070
• Other Databases: GeneCards:  GJD4  Malacards:  GJD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007267	cell-cell signaling	IBA	biological process
GO:0005243	gap junction channel activity	IBA	molecular function
GO:0005922	connexin complex	IBA	cellular component
GO:0007154	cell communication	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0014717	regulation of satellite cell activation involved in skeletal muscle regeneration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0007267	cell-cell signaling	IBA	biological process
GO:0005243	gap junction channel activity	IBA	molecular function
GO:0005922	connexin complex	IBA	cellular component
GO:0007154	cell communication	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0014717	regulation of satellite cell activation involved in skeletal muscle regeneration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881