Details for: GJA5

Gene ID: 2702

Symbol: GJA5

Ensembl ID: ENSG00000265107

Description: gap junction protein alpha 5

Associated with

  • Gap junction trafficking
    (R-HSA-190828)
  • Gap junction trafficking and regulation
    (R-HSA-157858)
  • Membrane trafficking
    (R-HSA-199991)
  • Vesicle-mediated transport
    (R-HSA-5653656)
  • Angiogenesis
    (GO:0001525)
  • Artery morphogenesis
    (GO:0048844)
  • Atrial cardiac muscle cell to av node cell communication by electrical coupling
    (GO:0086044)
  • Atrial septum development
    (GO:0003283)
  • Av node cell to bundle of his cell communication by electrical coupling
    (GO:0086053)
  • Bundle of his cell to purkinje myocyte communication by electrical coupling
    (GO:0086054)
  • Cardiac conduction system development
    (GO:0003161)
  • Cell-cell signaling
    (GO:0007267)
  • Cell communication by chemical coupling
    (GO:0010643)
  • Cell communication by electrical coupling involved in cardiac conduction
    (GO:0086064)
  • Cell projection
    (GO:0042995)
  • Connexin binding
    (GO:0071253)
  • Connexin complex
    (GO:0005922)
  • Disordered domain specific binding
    (GO:0097718)
  • Endothelium development
    (GO:0003158)
  • Gap junction
    (GO:0005921)
  • Gap junction assembly
    (GO:0016264)
  • Gap junction channel activity involved in atrial cardiac muscle cell-av node cell electrical coupling
    (GO:0086076)
  • Gap junction channel activity involved in av node cell-bundle of his cell electrical coupling
    (GO:0086077)
  • Gap junction channel activity involved in bundle of his cell-purkinje myocyte electrical coupling
    (GO:0086078)
  • Gap junction channel activity involved in cardiac conduction electrical coupling
    (GO:0086075)
  • Gap junction channel activity involved in purkinje myocyte-ventricular cardiac muscle cell electrical coupling
    (GO:0086079)
  • Gap junction channel activity involved in sa node cell-atrial cardiac muscle cell electrical coupling
    (GO:0086020)
  • Gap junction hemi-channel activity
    (GO:0055077)
  • Heart development
    (GO:0007507)
  • Intercalated disc
    (GO:0014704)
  • Mitral valve development
    (GO:0003174)
  • Negative regulation of blood pressure
    (GO:0045776)
  • Negative regulation of glomerular filtration
    (GO:0003105)
  • Outflow tract morphogenesis
    (GO:0003151)
  • Plasma membrane
    (GO:0005886)
  • Positive regulation of cell communication by chemical coupling
    (GO:0010652)
  • Positive regulation of vasoconstriction
    (GO:0045907)
  • Potassium ion transport
    (GO:0006813)
  • Protein binding
    (GO:0005515)
  • Pulmonary valve formation
    (GO:0003193)
  • Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling
    (GO:0086055)
  • Regulation of atrial cardiac muscle cell action potential
    (GO:0098910)
  • Regulation of atrial cardiac muscle cell membrane depolarization
    (GO:0060371)
  • Regulation of av node cell action potential
    (GO:0098904)
  • Regulation of bundle of his cell action potential
    (GO:0098905)
  • Regulation of cardiac muscle contraction
    (GO:0055117)
  • Regulation of cell communication by electrical coupling
    (GO:0010649)
  • Regulation of purkinje myocyte action potential
    (GO:0098906)
  • Regulation of ventricular cardiac muscle cell membrane depolarization
    (GO:0060373)
  • Regulation of ventricular cardiac muscle cell membrane repolarization
    (GO:0060307)
  • Sa node cell to atrial cardiac muscle cell communication by electrical coupling
    (GO:0086021)
  • Transmembrane transport
    (GO:0055085)
  • Vasodilation
    (GO:0042311)
  • Vasomotion
    (GO:1990029)
  • Ventricular septum development
    (GO:0003281)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 6.19
    Marker Score: 4956
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 3.54
    Marker Score: 3157
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 2.16
    Marker Score: 1863
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.71
    Marker Score: 6717
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.62
    Marker Score: 1114
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 868
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.21
    Marker Score: 18883
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 794
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5347
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 0.89
    Marker Score: 2251
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5284
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.81
    Marker Score: 767
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.81
    Marker Score: 792
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.76
    Marker Score: 727
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.75
    Marker Score: 1521.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.75
    Marker Score: 356
  • Cell Name: glomerular endothelial cell (CL0002188)
    Fold Change: 0.7
    Marker Score: 178
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.66
    Marker Score: 394
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.65
    Marker Score: 427
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.58
    Marker Score: 459
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.52
    Marker Score: 497
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.48
    Marker Score: 202.5
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.47
    Marker Score: 530.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.47
    Marker Score: 148.5
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.46
    Marker Score: 1634
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.44
    Marker Score: 432
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.42
    Marker Score: 175
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.42
    Marker Score: 406
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.42
    Marker Score: 182
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.41
    Marker Score: 295
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.4
    Marker Score: 328
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.39
    Marker Score: 536
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.38
    Marker Score: 158
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 0.38
    Marker Score: 106
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.37
    Marker Score: 164
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.35
    Marker Score: 200.5
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.34
    Marker Score: 303
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.33
    Marker Score: 188
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.32
    Marker Score: 322.5
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.31
    Marker Score: 80
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.3
    Marker Score: 89
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.29
    Marker Score: 754
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.27
    Marker Score: 148
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 89
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.26
    Marker Score: 145
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.25
    Marker Score: 82
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.25
    Marker Score: 469.5
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.24
    Marker Score: 135
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.24
    Marker Score: 2112
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.24
    Marker Score: 52
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.24
    Marker Score: 3126
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.23
    Marker Score: 234
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.22
    Marker Score: 116
  • Cell Name: vasa recta descending limb cell (CL1001285)
    Fold Change: 0.21
    Marker Score: 58
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.2
    Marker Score: 134
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.2
    Marker Score: 110
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.19
    Marker Score: 205.5
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.19
    Marker Score: 187
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.18
    Marker Score: 382
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.18
    Marker Score: 52
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.18
    Marker Score: 106
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.18
    Marker Score: 355
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.18
    Marker Score: 303
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.17
    Marker Score: 79
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.17
    Marker Score: 329
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.17
    Marker Score: 61
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.16
    Marker Score: 503
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.16
    Marker Score: 183
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.15
    Marker Score: 149
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.15
    Marker Score: 30
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.15
    Marker Score: 279
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.14
    Marker Score: 69
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.14
    Marker Score: 346
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.13
    Marker Score: 33
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.13
    Marker Score: 31
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.13
    Marker Score: 119
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 0.12
    Marker Score: 175
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.12
    Marker Score: 149
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.11
    Marker Score: 77
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.11
    Marker Score: 33
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.11
    Marker Score: 32
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.11
    Marker Score: 111
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.11
    Marker Score: 34
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.11
    Marker Score: 115
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.1
    Marker Score: 60
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.1
    Marker Score: 165.5
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.1
    Marker Score: 27
  • Cell Name: bronchial smooth muscle cell (CL0002598)
    Fold Change: 0.1
    Marker Score: 28
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.1
    Marker Score: 25
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.1
    Marker Score: 23
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1
    Marker Score: 207

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * GJA5 is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is expressed in a variety of cell types, including cardiac muscle cells, endothelial cells, and fibroblasts. * GJA5 is a key component of gap junctions, which are essential for the electrical coupling between cardiac muscle cells. * It is involved in the formation of new gap junctions and the maintenance of existing gap junctions. * It is also involved in the regulation of cardiac conduction and myocardial remodeling. **Pathways and functions:** * GJA5 is involved in the assembly of gap junctions between cardiac muscle cells. * It is also involved in the maintenance of gap junction integrity and function. * It is involved in the electrical coupling between cardiac muscle cells and the conduction system. * It is also involved in the regulation of myocardial remodeling. **Clinical significance:** * Mutations in GJA5 have been linked to a number of cardiovascular diseases, including atrial fibrillation, heart failure, and cardiomyopathy. * GJA5 is a potential therapeutic target for these diseases. * By blocking GJA5, it is possible to inhibit the electrical coupling between cardiac muscle cells and to slow the progression of cardiovascular disease. **Additional notes:** * GJA5 is a member of the gap junction protein family, which is a superfamily of cell adhesion molecules. * It is expressed in a high density in the heart, with the highest expression in atrial and ventricular cardiac muscle cells. * It is also expressed in endothelial cells, fibroblasts, and smooth muscle cells.

Genular Protein ID: 1602455462

Symbol: CXA5_HUMAN

Name: Gap junction alpha-5 protein

UniProtKB Accession Codes:

P36382 Q5T3B6 Q5U0N6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 49 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 4 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7966354

Title: Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45.

PubMed ID: 7966354

DOI: 10.1006/jmcc.1994.1103

PubMed ID: 10581143

Title: Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes.

PubMed ID: 10581143

DOI: 10.1053/euhj.1999.1718

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16790700

Title: Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.

PubMed ID: 16790700

DOI: 10.1056/nejmoa052800

PubMed ID: 20650941

Title: Novel connexin40 missense mutations in patients with familial atrial fibrillation.

PubMed ID: 20650941

DOI: 10.1093/europace/euq274

Sequence Information:

  • Length: 358
  • Mass: 40380
  • Checksum: DE9DD863C130229A
  • Sequence:
    • MGDWSFLGNF LEEVHKHSTV VGKVWLTVLF IFRMLVLGTA AESSWGDEQA DFRCDTIQPG 
CQNVCYDQAF PISHIRYWVL QIIFVSTPSL VYMGHAMHTV RMQEKRKLRE AERAKEVRGS 
GSYEYPVAEK AELSCWEEGN GRIALQGTLL NTYVCSILIR TTMEVGFIVG QYFIYGIFLT 
TLHVCRRSPC PHPVNCYVSR PTEKNVFIVF MLAVAALSLL LSLAELYHLG WKKIRQRFVK 
PRQHMAKCQL SGPSVGIVQS CTPPPDFNQC LENGPGGKFF NPFSNNMASQ QNTDNLVTEQ 
VRGQEQTPGE GFIQVRYGQK PEVPNGVSPG HRLPHGYHSD KRRLSKASSK ARSDDLSV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.