Details for: GJA3
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
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.
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.
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
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
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
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
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
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
PubMed ID: 25635993
Title: Identification of a novel GJA3 mutation in congenital nuclear cataract.
PubMed ID: 25635993
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
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.