Details for: GJA3

Gene ID: 2700

Symbol: GJA3

Ensembl ID: ENSG00000121743

Description: gap junction protein alpha 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 6.2527
    Cell Significance Index: 159.3100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.2024
    Cell Significance Index: 59.0200
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.5277
    Cell Significance Index: 26.1200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.2744
    Cell Significance Index: 30.8700
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.4494
    Cell Significance Index: 3.8200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.3889
    Cell Significance Index: 5.5700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3396
    Cell Significance Index: 7.4400
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.2576
    Cell Significance Index: 1.1400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.2270
    Cell Significance Index: 308.6800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2158
    Cell Significance Index: 16.5600
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.1869
    Cell Significance Index: 2.4200
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.1722
    Cell Significance Index: 2.5000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1653
    Cell Significance Index: 1.3200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1532
    Cell Significance Index: 2.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0990
    Cell Significance Index: 152.4000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0507
    Cell Significance Index: 1.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0414
    Cell Significance Index: 1.8300
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.0344
    Cell Significance Index: 0.3400
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.0321
    Cell Significance Index: 0.3700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0316
    Cell Significance Index: 1.0000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0247
    Cell Significance Index: 0.8600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0204
    Cell Significance Index: 1.0600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0183
    Cell Significance Index: 0.2700
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.0137
    Cell Significance Index: 0.1900
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0126
    Cell Significance Index: 0.1800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0119
    Cell Significance Index: 22.0300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0110
    Cell Significance Index: 0.1500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0049
    Cell Significance Index: 0.0700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0039
    Cell Significance Index: 2.1500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0028
    Cell Significance Index: 1.2600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0009
    Cell Significance Index: -1.6300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0012
    Cell Significance Index: -0.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0026
    Cell Significance Index: -1.6200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0028
    Cell Significance Index: -0.0800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0029
    Cell Significance Index: -0.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0032
    Cell Significance Index: -1.8200
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0039
    Cell Significance Index: -0.0500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0040
    Cell Significance Index: -1.8200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0054
    Cell Significance Index: -0.2200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0057
    Cell Significance Index: -1.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0058
    Cell Significance Index: -1.6800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0066
    Cell Significance Index: -0.6700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0079
    Cell Significance Index: -1.5900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0096
    Cell Significance Index: -1.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0096
    Cell Significance Index: -2.0300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0099
    Cell Significance Index: -0.4600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0105
    Cell Significance Index: -1.7900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0113
    Cell Significance Index: -1.3900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0118
    Cell Significance Index: -1.6200
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0131
    Cell Significance Index: -0.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0134
    Cell Significance Index: -1.5600
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0148
    Cell Significance Index: -0.1900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0154
    Cell Significance Index: -1.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0160
    Cell Significance Index: -1.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0162
    Cell Significance Index: -1.8600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0198
    Cell Significance Index: -1.5700
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.0211
    Cell Significance Index: -0.2400
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: -0.0238
    Cell Significance Index: -0.2700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0267
    Cell Significance Index: -1.7200
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0267
    Cell Significance Index: -0.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0274
    Cell Significance Index: -1.8400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0280
    Cell Significance Index: -1.7200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0300
    Cell Significance Index: -1.3600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0320
    Cell Significance Index: -0.8000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0329
    Cell Significance Index: -0.9700
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0348
    Cell Significance Index: -0.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0348
    Cell Significance Index: -1.9500
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.0361
    Cell Significance Index: -0.4200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0378
    Cell Significance Index: -1.0300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0384
    Cell Significance Index: -1.4100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0393
    Cell Significance Index: -1.0100
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0407
    Cell Significance Index: -0.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0411
    Cell Significance Index: -1.9300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0440
    Cell Significance Index: -1.5400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0452
    Cell Significance Index: -0.7600
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0484
    Cell Significance Index: -0.5700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0487
    Cell Significance Index: -1.6000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0491
    Cell Significance Index: -1.0000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0499
    Cell Significance Index: -0.8600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0502
    Cell Significance Index: -1.6000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0507
    Cell Significance Index: -1.2700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0534
    Cell Significance Index: -1.2800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0563
    Cell Significance Index: -1.4800
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: -0.0566
    Cell Significance Index: -0.6300
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0575
    Cell Significance Index: -0.6500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0592
    Cell Significance Index: -1.5800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0609
    Cell Significance Index: -1.7900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0611
    Cell Significance Index: -0.9800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0633
    Cell Significance Index: -1.5800
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: -0.0658
    Cell Significance Index: -0.7300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0666
    Cell Significance Index: -1.9000
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0667
    Cell Significance Index: -0.9000
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.0671
    Cell Significance Index: -0.3100
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0682
    Cell Significance Index: -1.3600
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0705
    Cell Significance Index: -0.6700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0717
    Cell Significance Index: -1.5000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0737
    Cell Significance Index: -1.4800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0743
    Cell Significance Index: -1.4500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0754
    Cell Significance Index: -1.6300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0755
    Cell Significance Index: -1.1000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** GJA3 is a transmembrane protein that forms gap junction channels, allowing for direct communication between adjacent cells. It is a member of the connexin family, which is characterized by its ability to form hemichannels and oligomers. GJA3 is highly expressed in cells of the nervous system, including GABAergic interneurons in the cerebral cortex, and is also found in cells of the immune system, such as hematopoietic stem cells and innate lymphoid cells. Additionally, GJA3 is expressed in epithelial tissues, including those of the eye, brain, and gut. **Pathways and Functions:** GJA3 is involved in various cellular processes, including: 1. **Gap junction-mediated intercellular transport:** GJA3 forms gap junction channels, allowing for the exchange of ions, metabolites, and signaling molecules between adjacent cells. 2. **Cell-cell signaling:** GJA3 is involved in the regulation of cell growth, differentiation, and survival through the exchange of signaling molecules. 3. **Membrane trafficking:** GJA3 is involved in the regulation of membrane trafficking, including the formation and dissolution of gap junction channels. 4. **Visual perception:** GJA3 is expressed in the retina and is involved in the regulation of visual perception. **Clinical Significance:** Dysregulation of GJA3 has been implicated in various diseases, including: 1. **Neurological disorders:** GJA3 has been linked to neurological disorders such as epilepsy, schizophrenia, and autism spectrum disorder. 2. **Eye diseases:** GJA3 has been implicated in eye diseases such as glaucoma and age-related macular degeneration. 3. **Immune system disorders:** GJA3 has been linked to immune system disorders such as multiple sclerosis and rheumatoid arthritis. 4. **Cancer:** GJA3 has been implicated in cancer development and progression, particularly in epithelial cancers. In conclusion, GJA3 is a critical component of gap junctions, involved in intercellular communication, cell growth, and visual perception. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding the role of GJA3 in maintaining tissue homeostasis and regulating immune responses. Further research is needed to elucidate the mechanisms by which GJA3 contributes to disease pathogenesis and to develop novel therapeutic strategies for the treatment of GJA3-related disorders.

Genular Protein ID: 2991862750

Symbol: CXA3_HUMAN

Name: Gap junction alpha-3 protein

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.