Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2702
Gene name	Gap junction protein alpha 5
Gene symbol	GJA5
Synonyms (NCBI Gene)	ATFB11CX40
Chromosome	1
Chromosome location	1q21.2
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028999	hsa-miR-26b-5p	Microarray	19088304
MIRT496949	hsa-miR-6760-5p	PAR-CLIP	22291592
MIRT496948	hsa-miR-889-5p	PAR-CLIP	22291592
MIRT496947	hsa-miR-6776-5p	PAR-CLIP	22291592
MIRT496946	hsa-miR-5589-5p	PAR-CLIP	22291592
MIRT496945	hsa-miR-3652	PAR-CLIP	22291592
MIRT496944	hsa-miR-4430	PAR-CLIP	22291592
MIRT496943	hsa-miR-4505	PAR-CLIP	22291592
MIRT496942	hsa-miR-5787	PAR-CLIP	22291592
MIRT496941	hsa-miR-6842-3p	PAR-CLIP	22291592
MIRT496940	hsa-miR-1262	PAR-CLIP	22291592
MIRT496939	hsa-miR-4701-3p	PAR-CLIP	22291592
MIRT496938	hsa-miR-6736-5p	PAR-CLIP	22291592
MIRT496949	hsa-miR-6760-5p	PAR-CLIP	22291592
MIRT496948	hsa-miR-889-5p	PAR-CLIP	22291592
MIRT496947	hsa-miR-6776-5p	PAR-CLIP	22291592
MIRT496946	hsa-miR-5589-5p	PAR-CLIP	22291592
MIRT496945	hsa-miR-3652	PAR-CLIP	22291592
MIRT496944	hsa-miR-4430	PAR-CLIP	22291592
MIRT496943	hsa-miR-4505	PAR-CLIP	22291592
MIRT496942	hsa-miR-5787	PAR-CLIP	22291592
MIRT496941	hsa-miR-6842-3p	PAR-CLIP	22291592
MIRT496940	hsa-miR-1262	PAR-CLIP	22291592
MIRT496939	hsa-miR-4701-3p	PAR-CLIP	22291592
MIRT496938	hsa-miR-6736-5p	PAR-CLIP	22291592
MIRT1019719	hsa-miR-1205	CLIP-seq
MIRT1019720	hsa-miR-1909	CLIP-seq
MIRT1019721	hsa-miR-28-5p	CLIP-seq
MIRT1019722	hsa-miR-3139	CLIP-seq
MIRT1019723	hsa-miR-3150b-3p	CLIP-seq
MIRT1019724	hsa-miR-3607-3p	CLIP-seq
MIRT1019725	hsa-miR-4434	CLIP-seq
MIRT1019726	hsa-miR-4516	CLIP-seq
MIRT1019727	hsa-miR-4781-3p	CLIP-seq
MIRT1019728	hsa-miR-4784	CLIP-seq
MIRT1019729	hsa-miR-4786-3p	CLIP-seq
MIRT1019730	hsa-miR-542-3p	CLIP-seq
MIRT1019731	hsa-miR-558	CLIP-seq
MIRT1019732	hsa-miR-708	CLIP-seq
MIRT1019733	hsa-miR-765	CLIP-seq
MIRT2001972	hsa-miR-4768-5p	CLIP-seq
MIRT2235014	hsa-miR-3127-5p	CLIP-seq
MIRT2235015	hsa-miR-4270	CLIP-seq
MIRT2235016	hsa-miR-4441	CLIP-seq
MIRT2450287	hsa-miR-2467-5p	CLIP-seq
MIRT2450288	hsa-miR-3188	CLIP-seq
MIRT2450289	hsa-miR-320a	CLIP-seq
MIRT2450290	hsa-miR-320b	CLIP-seq
MIRT2450291	hsa-miR-320c	CLIP-seq
MIRT2450292	hsa-miR-320d	CLIP-seq
MIRT2450293	hsa-miR-3910	CLIP-seq
MIRT2450294	hsa-miR-3975	CLIP-seq
MIRT2450295	hsa-miR-4429	CLIP-seq
MIRT2450296	hsa-miR-4649-3p	CLIP-seq
MIRT2450297	hsa-miR-485-5p	CLIP-seq
MIRT2538857	hsa-miR-1252	CLIP-seq
MIRT2538858	hsa-miR-298	CLIP-seq
MIRT2538859	hsa-miR-3177-5p	CLIP-seq
MIRT2538860	hsa-miR-4438	CLIP-seq
MIRT2681576	hsa-miR-1202	CLIP-seq
MIRT2538857	hsa-miR-1252	CLIP-seq
MIRT2538858	hsa-miR-298	CLIP-seq
MIRT2681577	hsa-miR-3151	CLIP-seq
MIRT2538859	hsa-miR-3177-5p	CLIP-seq
MIRT2681578	hsa-miR-3183	CLIP-seq
MIRT2450293	hsa-miR-3910	CLIP-seq
MIRT2681579	hsa-miR-3972	CLIP-seq
MIRT2681580	hsa-miR-4257	CLIP-seq
MIRT2538860	hsa-miR-4438	CLIP-seq
MIRT2681581	hsa-miR-4684-3p	CLIP-seq
MIRT2681582	hsa-miR-4723-3p	CLIP-seq
MIRT2681583	hsa-miR-4733-5p	CLIP-seq
MIRT2681584	hsa-miR-4761-5p	CLIP-seq
MIRT2681585	hsa-miR-4776-3p	CLIP-seq
MIRT2681586	hsa-miR-486-3p	CLIP-seq
MIRT2681587	hsa-miR-499-3p	CLIP-seq
MIRT2681588	hsa-miR-499a-3p	CLIP-seq
MIRT2681589	hsa-miR-550b	CLIP-seq

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Transcription factor	Regulation	Reference
TBX5	Activation	18451335

103

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001525	Process	Angiogenesis	IEP	11866539
GO:0001568	Process	Blood vessel development	IEA
GO:0003071	Process	Renal system process involved in regulation of systemic arterial blood pressure	IEA
GO:0003073	Process	Regulation of systemic arterial blood pressure	IEA
GO:0003105	Process	Negative regulation of glomerular filtration	IEA
GO:0003151	Process	Outflow tract morphogenesis	IMP	22199024
GO:0003158	Process	Endothelium development	IEA
GO:0003161	Process	Cardiac conduction system development	IEA
GO:0003161	Process	Cardiac conduction system development	ISS
GO:0003174	Process	Mitral valve development	IMP	22199024
GO:0003193	Process	Pulmonary valve formation	IMP	22199024
GO:0003281	Process	Ventricular septum development	IMP	22199024
GO:0003283	Process	Atrial septum development	IMP	22199024
GO:0003284	Process	Septum primum development	IEA
GO:0003294	Process	Atrial ventricular junction remodeling	IEA
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005886	Component	Plasma membrane	IDA	22247482
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IDA	23348765
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IDA	22247482
GO:0005922	Component	Connexin complex	IEA
GO:0005922	Component	Connexin complex	ISS	15044680
GO:0006813	Process	Potassium ion transport	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0010643	Process	Cell communication by chemical coupling	IEA
GO:0010644	Process	Cell communication by electrical coupling	IEA
GO:0010649	Process	Regulation of cell communication by electrical coupling	IEA
GO:0010652	Process	Positive regulation of cell communication by chemical coupling	IEA
GO:0014704	Component	Intercalated disc	IDA	16790700
GO:0014704	Component	Intercalated disc	TAS	23348765
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	IDA	22247482
GO:0016264	Process	Gap junction assembly	IMP	16790700, 23348765
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035922	Process	Foramen ovale closure	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0048844	Process	Artery morphogenesis	ISS
GO:0055077	Function	Gap junction hemi-channel activity	IDA	23348765
GO:0055085	Process	Transmembrane transport	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	16790700, 22247482, 23348765
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	ISS
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IMP	22247482, 23348765
GO:0060373	Process	Regulation of ventricular cardiac muscle cell membrane depolarization	IEA
GO:0060373	Process	Regulation of ventricular cardiac muscle cell membrane depolarization	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0061337	Process	Cardiac conduction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071253	Function	Connexin binding	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IEA
GO:0086015	Process	SA node cell action potential	IEA
GO:0086020	Function	Gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling	NAS	15044680, 21357845
GO:0086021	Process	SA node cell to atrial cardiac muscle cell communication by electrical coupling	NAS	15044680, 21357845
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	IBA
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	IEA
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	IMP	16790700, 20606116, 23348765
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	NAS	15044680
GO:0086053	Process	AV node cell to bundle of His cell communication by electrical coupling	IEA
GO:0086053	Process	AV node cell to bundle of His cell communication by electrical coupling	IMP	22247482
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	IEA
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	IMP	22247482
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	ISS
GO:0086055	Process	Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling	NAS	15044680
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	IDA	16790700, 23348765
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	IEA
GO:0086065	Process	Cell communication involved in cardiac conduction	IEA
GO:0086067	Process	AV node cell to bundle of His cell communication	IEA
GO:0086075	Function	Gap junction channel activity involved in cardiac conduction electrical coupling	IDA	23348765
GO:0086075	Function	Gap junction channel activity involved in cardiac conduction electrical coupling	IMP	16790700
GO:0086076	Function	Gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IBA
GO:0086076	Function	Gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IMP	16790700, 20606116, 23348765
GO:0086076	Function	Gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	NAS	15044680
GO:0086077	Function	Gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IDA	22247482
GO:0086078	Function	Gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	IEA
GO:0086078	Function	Gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	IMP	22247482
GO:0086078	Function	Gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	ISS
GO:0086079	Function	Gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling	NAS	15044680
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IEA
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0098904	Process	Regulation of AV node cell action potential	IEA
GO:0098904	Process	Regulation of AV node cell action potential	IMP	22247482
GO:0098905	Process	Regulation of bundle of His cell action potential	IEA
GO:0098905	Process	Regulation of bundle of His cell action potential	IMP	22247482
GO:0098906	Process	Regulation of Purkinje myocyte action potential	IMP	22247482
GO:0098910	Process	Regulation of atrial cardiac muscle cell action potential	IMP	23348765
GO:1900133	Process	Regulation of renin secretion into blood stream	IEA
GO:1900825	Process	Regulation of membrane depolarization during cardiac muscle cell action potential	IEA
GO:1990029	Process	Vasomotion	IEA

MIM	HGNC	e!Ensembl
121013	4279	ENSG00000265107

P36382

Protein name

Gap junction alpha-5 protein (Connexin-40) (Cx40)

Protein function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	3 → 231	Connexin	Family
PF16791	Connexin40_C	257 → 358	Connexin 40 C-terminal domain	Domain

Sequence

MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPG
CQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGS
GSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLT
TLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQ
VRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV

Sequence length

358

Interactions

View interactions

	Reactome
			Gap junction assembly

494

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial fibrillation, familial, 11	Pathogenic	rs2524612750, rs387906612, rs387906613, rs387906614, rs387906615	RCV002917391 RCV000022512 RCV000022513 RCV000022514 RCV000022515
Atrial fibrillation, somatic	Pathogenic	rs121434558	RCV000018522
Atrial standstill 1	Pathogenic	rs2524612750	RCV002917391

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Atrial fibrillation	Uncertain significance	rs121434557	RCV004772830
Chromosome 1q21.1 deletion syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs116551187, rs781831348	RCV000763745 RCV005400458
Familial atrial fibrillation	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs886045244, rs36005900, rs2232191, rs11552588, rs886045243, rs886045242, rs36214923, rs11267274, rs791286, rs35594137	RCV000289943 RCV000295375 RCV000267472 RCV000330907 RCV000382080 RCV000325178 RCV000387823 RCV000347287 RCV000277169 RCV000316019
GJA5-related disorder	Likely benign	rs782415947	RCV003916275
Hypertrophic cardiomyopathy	Uncertain significance	rs1553226930	RCV000498540
Wolff-Parkinson-White pattern	Uncertain significance	rs1553226803	RCV000656181

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	16188595, 22247482, 26762269
Atherosclerosis	Associate	25871831
Atrial Fibrillation	Associate	15657225, 16790700, 23134779, 24457199, 25200600, 26634538, 27813566, 29351227, 29915175, 30558760, 31270966
Atrial Fibrillation	Stimulate	21542828
Atrial Fibrillation	Inhibit	31270966
Atrial Standstill	Associate	16188595
Carcinoma Squamous Cell	Associate	28211524
Cardiovascular Diseases	Associate	26516624
Congenital heart block	Associate	27826129
Death	Associate	38039294
Heart Defects Congenital	Associate	22199024, 22318994, 24021551
Heart Diseases	Associate	35205305
Hereditary bundle branch system defect	Associate	22247482
Melanoma	Associate	35682601
Mitral Valve Stenosis	Associate	15657225
Myopathies Structural Congenital	Associate	29351227
Neoplasms	Associate	36833374
Nephrosis congenital	Stimulate	32471989
Neuroblastoma	Associate	22247482
Osteosarcoma	Associate	38039294
Paroxysmal ventricular fibrillation	Associate	33664309
Polycythemia Vera	Associate	29351227
Skin Neoplasms	Associate	28211524
Squamous Cell Carcinoma of Head and Neck	Associate	36833374
Tetralogy of Fallot	Associate	22199024, 24479926
Torsades de Pointes	Associate	33664309
Ventricular Fibrillation	Associate	16790700

GJA5 (gap junction protein alpha 5)