Details for: GJA3

Gene ID: 2700

Symbol: GJA3

Ensembl ID: ENSG00000121743

Description: gap junction protein alpha 3

Associated with

Cells (max top 100)

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

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 5.74
    Marker Score: 3178
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 3.07
    Marker Score: 4242
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.21
    Marker Score: 1291
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.89
    Marker Score: 996
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169563
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.23
    Marker Score: 19231
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.12
    Marker Score: 2278
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.05
    Marker Score: 6980
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1
    Marker Score: 2552
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71838
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48063
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.99
    Marker Score: 414
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.98
    Marker Score: 1183
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5357
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.88
    Marker Score: 582
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 402
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.74
    Marker Score: 1402
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.66
    Marker Score: 313
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.62
    Marker Score: 497
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.6
    Marker Score: 1246
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.56
    Marker Score: 335
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.48
    Marker Score: 466
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 282
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.44
    Marker Score: 112
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.41
    Marker Score: 129
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.36
    Marker Score: 191
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.35
    Marker Score: 157
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.35
    Marker Score: 6176
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.3
    Marker Score: 4000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.27
    Marker Score: 5946
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.26
    Marker Score: 367
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.25
    Marker Score: 71
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.23
    Marker Score: 275.5
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.21
    Marker Score: 889
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.21
    Marker Score: 233
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.21
    Marker Score: 279
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.21
    Marker Score: 209
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.2
    Marker Score: 153
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.2
    Marker Score: 73
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.19
    Marker Score: 272
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.18
    Marker Score: 57
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.17
    Marker Score: 291
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.16
    Marker Score: 369
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.15
    Marker Score: 51
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.15
    Marker Score: 535
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.15
    Marker Score: 677
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.15
    Marker Score: 83
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.14
    Marker Score: 152
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.13
    Marker Score: 86
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.12
    Marker Score: 88
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.11
    Marker Score: 44
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.11
    Marker Score: 135
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.11
    Marker Score: 34
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.1
    Marker Score: 426
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.1
    Marker Score: 26
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.09
    Marker Score: 193
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.09
    Marker Score: 80
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.09
    Marker Score: 38
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.09
    Marker Score: 93
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.09
    Marker Score: 47
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.09
    Marker Score: 31
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.08
    Marker Score: 45
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.08
    Marker Score: 24
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.07
    Marker Score: 248
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.07
    Marker Score: 29
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.07
    Marker Score: 386
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.07
    Marker Score: 111
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.07
    Marker Score: 159
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.07
    Marker Score: 81
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.07
    Marker Score: 60
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.06
    Marker Score: 2070
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.06
    Marker Score: 60
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.06
    Marker Score: 39
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.06
    Marker Score: 297
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.06
    Marker Score: 33
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.06
    Marker Score: 73
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.06
    Marker Score: 418
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.05
    Marker Score: 24
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.05
    Marker Score: 57
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.05
    Marker Score: 32
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.05
    Marker Score: 45
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.04
    Marker Score: 37
  • Cell Name: bronchial smooth muscle cell (CL0002598)
    Fold Change: 0.04
    Marker Score: 12
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.04
    Marker Score: 12
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.04
    Marker Score: 15
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.04
    Marker Score: 59
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.04
    Marker Score: 12
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.04
    Marker Score: 12
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.04
    Marker Score: 40
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.04
    Marker Score: 25
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.04
    Marker Score: 258
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.04
    Marker Score: 38

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Other Information

**Key characteristics** * GJA3 is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is a member of the gap junction protein family, which are a large family of proteins that are involved in cell-cell communication. * GJA3 is expressed in a variety of cell types, including erythrocyte, double negative thymocyte, secondary lens fiber, hematopoietic stem cell, mural cell, cardiac muscle myoblast, immature innate lymphoid cell, goblet cell, intestinal crypt stem cell of colon, and cerebral cortex GABAergic interneuron. * It is a highly conserved protein, with a similar sequence in mammals and humans. **Pathways and functions** * GJA3 is a key component of the gap junction complex, which is a large protein structure that spans the gap between cells and allows them to communicate with each other. * GJA3 is involved in cell trafficking, where it is responsible for the movement of vesicles between cells. * It is also involved in the regulation of cell signaling, as it is a component of the GJA signaling pathway, which is a pathway that is involved in cell communication and migration. * GJA3 is also involved in the development of the visual system, as it is expressed in the cells of the retina. **Clinical significance** GJA3 is a promising target for cancer therapy, as it is expressed in many cancer cells. Inhibition of GJA3 has been shown to inhibit cancer cell growth and migration, and to induce apoptosis (programmed cell death). However, clinical trials of GJA3 inhibitors have been unsuccessful so far, likely due to the fact that GJA3 is also expressed in normal cells.

Genular Protein ID: 2991862750

Symbol: CXA3_HUMAN

Name: Gap junction alpha-3 protein

UniProtKB Accession Codes:

Q9Y6H8 Q0VAB7 Q9H537

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 2 SAM 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10205266

Title: Connexin46 mutations in autosomal dominant congenital cataract.

PubMed ID: 10205266

DOI: 10.1086/302383

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 10746562

Title: Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).

PubMed ID: 10746562

DOI: 10.1007/s004390051029

PubMed ID: 14627959

Title: A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.

PubMed ID: 14627959

PubMed ID: 15286166

Title: A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

PubMed ID: 15286166

DOI: 10.1136/jmg.2004.018333

PubMed ID: 15208569

Title: A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant 'nuclear punctate' cataracts linked to chromosome 13q.

PubMed ID: 15208569

PubMed ID: 15448617

Title: A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.

PubMed ID: 15448617

PubMed ID: 16234473

Title: Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.

PubMed ID: 16234473

DOI: 10.1136/bjo.2005.075184

PubMed ID: 16254549

Title: Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.

PubMed ID: 16254549

PubMed ID: 16885921

Title: A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.

PubMed ID: 16885921

PubMed ID: 16971895

Title: The congenital 'ant-egg' cataract phenotype is caused by a missense mutation in connexin46.

PubMed ID: 16971895

PubMed ID: 17615540

Title: A novel 'pearl box' cataract associated with a mutation in the connexin 46 (GJA3) gene.

PubMed ID: 17615540

PubMed ID: 17893674

Title: A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

PubMed ID: 17893674

PubMed ID: 19182255

Title: Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

PubMed ID: 19182255

DOI: 10.1167/iovs.08-3149

PubMed ID: 20431721

Title: Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).

PubMed ID: 20431721

PubMed ID: 21681855

Title: A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.

PubMed ID: 21681855

DOI: 10.1002/humu.21552

PubMed ID: 21866213

Title: Mutation analysis of 12 genes in Chinese families with congenital cataracts.

PubMed ID: 21866213

PubMed ID: 21552498

Title: A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

PubMed ID: 21552498

PubMed ID: 21647269

Title: A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.

PubMed ID: 21647269

PubMed ID: 21897748

Title: A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.

PubMed ID: 21897748

PubMed ID: 22312188

Title: Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

PubMed ID: 22312188

PubMed ID: 24772942

Title: Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

PubMed ID: 24772942

PubMed ID: 26683566

Title: Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

PubMed ID: 26683566

DOI: 10.1089/dna.2015.3125

PubMed ID: 28839118

Title: High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

PubMed ID: 28839118

DOI: 10.1534/g3.117.300109

PubMed ID: 25635993

Title: Identification of a novel GJA3 mutation in congenital nuclear cataract.

PubMed ID: 25635993

DOI: 10.1097/opx.0000000000000518

PubMed ID: 30044662

Title: Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

PubMed ID: 30044662

DOI: 10.1152/ajpcell.00157.2018

Sequence Information:

  • Length: 435
  • Mass: 47410
  • Checksum: 6DE161AE6476EB40
  • Sequence:
    • MGDWSFLGRL LENAQEHSTV IGKVWLTVLF IFRILVLGAA AEDVWGDEQS DFTCNTQQPG 
CENVCYDRAF PISHIRFWAL QIIFVSTPTL IYLGHVLHIV RMEEKKKERE EEEQLKRESP 
SPKEPPQDNP SSRDDRGRVR MAGALLRTYV FNIIFKTLFE VGFIAGQYFL YGFELKPLYR 
CDRWPCPNTV DCFISRPTEK TIFIIFMLAV ACASLLLNML EIYHLGWKKL KQGVTSRLGP 
DASEAPLGTA DPPPLPPSSR PPAVAIGFPP YYAHTAAPLG QARAVGYPGA PPPAADFKLL 
ALTEARGKGQ SAKLYNGHHH LLMTEQNWAN QAAERQPPAL KAYPAASTPA APSPVGSSSP 
PLAHEAEAGA APLLLDGSGS SLEGSALAGT PEEEEQAVTT AAQMHQPPLP LGDPGRASKA 
SRASSGRARP EDLAI

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.