• Gene id: 2702

Gene Summary

• Gene Symbol: GJA5   Gene   UCSC   Ensembl
• Aliases: ATFB11, CX40
• Gene name: gap junction protein alpha 5
• Alternate names: gap junction alpha-5 protein, connexin 40, gap junction protein alpha 5 40kDa,
• Gene location: 1q21.2 (147781126: 147756198)     Exons: 4     NC_000001.11
• Gene summary(Entrez): This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Muta
• OMIM: 606005

Protein Summary

• Protein general information: P36382  
  • Name: Gap junction alpha 5 protein (Connexin 40) (Cx40)
  • Length: 358  
  • Mass: 40380
• Sequence:

  MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHI
  RYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLL
  NTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAE
  LYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQ
  VRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV

• Structural information:
  • Interpro: IPR000500  IPR002264  IPR034634  IPR019570  IPR017990   IPR013092  IPR038359  IPR031862  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000484552
• Other Databases: GeneCards:  GJA5  Malacards:  GJA5

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:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003105	negative regulation of glomerular filtration	IEA	biological process
GO:0003158	endothelium development	IEA	biological process
GO:0005243	gap junction channel activity	IEA	molecular function
GO:0010652	positive regulation of cell communication by chemical coupling	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0045776	negative regulation of blood pressure	IEA	biological process
GO:0097718	disordered domain specific binding	IEA	molecular function
GO:0097755	positive regulation of blood vessel diameter	IEA	biological process
GO:1990029	vasomotion	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0003161	cardiac conduction system development	IEA	biological process
GO:0003284	septum primum development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0035922	foramen ovale closure	IEA	biological process
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IEA	biological process
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization	IEA	biological process
GO:0060413	atrial septum morphogenesis	IEA	biological process
GO:0061337	cardiac conduction	IEA	biological process
GO:0086005	ventricular cardiac muscle cell action potential	IEA	biological process
GO:0086044	atrial cardiac muscle cell to AV node cell communication by electrical coupling	IEA	biological process
GO:0097746	regulation of blood vessel diameter	IEA	biological process
GO:0098905	regulation of bundle of His cell action potential	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0010643	cell communication by chemical coupling	IEA	biological process
GO:0010644	cell communication by electrical coupling	IEA	biological process
GO:0010649	regulation of cell communication by electrical coupling	IEA	biological process
GO:0045907	positive regulation of vasoconstriction	IEA	biological process
GO:0071253	connexin binding	IEA	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0003071	renal system process involved in regulation of systemic arterial blood pressure	IEA	biological process
GO:0003073	regulation of systemic arterial blood pressure	IEA	biological process
GO:0003294	atrial ventricular junction remodeling	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0048844	artery morphogenesis	IEA	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0086015	SA node cell action potential	IEA	biological process
GO:0086053	AV node cell to bundle of His cell communication by electrical coupling	IEA	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	IEA	biological process
GO:0086065	cell communication involved in cardiac conduction	IEA	biological process
GO:0086067	AV node cell to bundle of His cell communication	IEA	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IEA	biological process
GO:0098904	regulation of AV node cell action potential	IEA	biological process
GO:1900133	regulation of renin secretion into blood stream	IEA	biological process
GO:1900825	regulation of membrane depolarization during cardiac muscle cell action potential	IEA	biological process
GO:0055077	gap junction hemi-channel activity	IDA	molecular function
GO:0086075	gap junction channel activity involved in cardiac conduction electrical coupling	IDA	molecular function
GO:0086077	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IDA	molecular function
GO:0086075	gap junction channel activity involved in cardiac conduction electrical coupling	IMP	molecular function
GO:0086076	gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IMP	molecular function
GO:0086076	gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IMP	molecular function
GO:0086078	gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	IMP	molecular function
GO:0086076	gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IMP	molecular function
GO:0086079	gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling	NAS	molecular function
GO:0086076	gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	NAS	molecular function
GO:0014704	intercalated disc	IDA	cellular component
GO:0086020	gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling	NAS	molecular function
GO:0086020	gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling	NAS	molecular function
GO:0003174	mitral valve development	IMP	biological process
GO:0003193	pulmonary valve formation	IMP	biological process
GO:0003283	atrial septum development	IMP	biological process
GO:0014704	intercalated disc	TAS	cellular component
GO:0055117	regulation of cardiac muscle contraction	IMP	biological process
GO:0055117	regulation of cardiac muscle contraction	IMP	biological process
GO:0055117	regulation of cardiac muscle contraction	IMP	biological process
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IMP	biological process
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IMP	biological process
GO:0086054	bundle of His cell to Purkinje myocyte communication by electrical coupling	IMP	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005921	gap junction	IDA	cellular component
GO:0005922	connexin complex	IDA	cellular component
GO:0016264	gap junction assembly	IDA	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	IDA	biological process
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	IDA	biological process
GO:0098905	regulation of bundle of His cell action potential	IMP	biological process
GO:0086044	atrial cardiac muscle cell to AV node cell communication by electrical coupling	IMP	biological process
GO:0086044	atrial cardiac muscle cell to AV node cell communication by electrical coupling	IMP	biological process
GO:0086044	atrial cardiac muscle cell to AV node cell communication by electrical coupling	IMP	biological process
GO:0086055	Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling	NAS	biological process
GO:0086044	atrial cardiac muscle cell to AV node cell communication by electrical coupling	NAS	biological process
GO:0003151	outflow tract morphogenesis	IMP	biological process
GO:0003281	ventricular septum development	IMP	biological process
GO:0016264	gap junction assembly	IMP	biological process
GO:0048844	artery morphogenesis	ISS	biological process
GO:0098910	regulation of atrial cardiac muscle cell action potential	IMP	biological process
GO:0086053	AV node cell to bundle of His cell communication by electrical coupling	IMP	biological process
GO:0098906	regulation of Purkinje myocyte action potential	IMP	biological process
GO:0098904	regulation of AV node cell action potential	IMP	biological process
GO:0016264	gap junction assembly	IMP	biological process
GO:0086021	SA node cell to atrial cardiac muscle cell communication by electrical coupling	NAS	biological process
GO:0086021	SA node cell to atrial cardiac muscle cell communication by electrical coupling	NAS	biological process
GO:0005922	connexin complex	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0001525	angiogenesis	IEP	biological process

Diseases

Associated diseases	References
Atrial fibrillation	KEGG:H00731
Atrial fibrillation	KEGG:H00731
Atrial fibrillation	PMID:11527649
Atrial fibrillation	PMID:16790700
Tetralogy of Fallot	PMID:22199024
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R