Details for: GJA8

Gene ID: 2703

Symbol: GJA8

Ensembl ID: ENSG00000121634

Description: gap junction protein alpha 8

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: Unknown (CL0000003)
    Fold Change: 33.57
    Marker Score: 103761
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 8.24
    Marker Score: 53069
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 6.7
    Marker Score: 8286
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.76
    Marker Score: 6852
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.16
    Marker Score: 3185
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.89
    Marker Score: 1104
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.63
    Marker Score: 10816
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.49
    Marker Score: 1804
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.25
    Marker Score: 7582
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.22
    Marker Score: 3659
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 1.06
    Marker Score: 32730
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71836
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48061.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.81
    Marker Score: 742
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 404.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 441.5
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.48
    Marker Score: 284
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.31
    Marker Score: 420.5
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.3
    Marker Score: 95
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.14
    Marker Score: 297
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.09
    Marker Score: 195
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.08
    Marker Score: 133
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.06
    Marker Score: 64.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.06
    Marker Score: 66
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.06
    Marker Score: 18
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.05
    Marker Score: 26.5
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.04
    Marker Score: 25
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.04
    Marker Score: 42
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.04
    Marker Score: 12
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.03
    Marker Score: 35
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.03
    Marker Score: 87
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.03
    Marker Score: 19
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.03
    Marker Score: 34
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.03
    Marker Score: 11
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.03
    Marker Score: 75.5
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.03
    Marker Score: 14
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.03
    Marker Score: 18
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.03
    Marker Score: 15
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.02
    Marker Score: 7
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.02
    Marker Score: 21
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.02
    Marker Score: 12
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.02
    Marker Score: 11
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.02
    Marker Score: 13
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.02
    Marker Score: 49
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.02
    Marker Score: 13
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.02
    Marker Score: 9
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.02
    Marker Score: 13
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.02
    Marker Score: 12
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.02
    Marker Score: 12
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.02
    Marker Score: 13
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.01
    Marker Score: 14
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.01
    Marker Score: 19
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 0.01
    Marker Score: 14
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.01
    Marker Score: 14
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.01
    Marker Score: 8
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.01
    Marker Score: 20
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.01
    Marker Score: 12
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.01
    Marker Score: 17
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.01
    Marker Score: 13
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.01
    Marker Score: 14
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.01
    Marker Score: 27
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.01
    Marker Score: 9
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.01
    Marker Score: 9
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.01
    Marker Score: 11
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.01
    Marker Score: 23
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.01
    Marker Score: 13
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0
    Marker Score: 13
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0
    Marker Score: 10
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0
    Marker Score: 7
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0
    Marker Score: 6
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0
    Marker Score: 14
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0
    Marker Score: 29
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0
    Marker Score: 13
  • Cell Name: neuron (CL0000540)
    Fold Change: 0
    Marker Score: 11
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0
    Marker Score: 13
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0
    Marker Score: 12
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0
    Marker Score: 14
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0
    Marker Score: 11
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0
    Marker Score: 13
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0
    Marker Score: 14

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Other Information

**Key characteristics:** * GJA8 is a large protein with a molecular weight of approximately 200 kDa. * It is a member of the GJA family of gap junction proteins. * GJA8 is expressed in high levels in endothelial cells, where it is involved in the formation and maintenance of gap junctions. * It is also expressed in immune cells, where it plays a role in cell-cell communication and inflammation. **Pathways and functions:** * GJA8 is involved in cell-cell signaling by interacting with other gap junction proteins, such as GJA1 and GJA4. * It is also involved in gap junction assembly, where it forms heterotypic gap junctions between endothelial cells. * GJA8 is involved in gap junction-mediated intercellular transport, where it facilitates the exchange of molecules between adjacent cells. * It is also involved in gap junction trafficking, where it is transported from the endoplasmic reticulum to the cell surface. * GJA8 is a key regulator of granulocyte macrophage colony-stimulating factor (GM-CSF) production, which is a cytokine that promotes the proliferation and survival of immune cells. * It is also involved in transmembrane transport, where it mediates the uptake of molecules from the extracellular environment by lysosomes. **Clinical significance:** * Mutations in the GJA8 gene have been linked to several human diseases, including coronary artery disease, stroke, and cancer. * GJA8 is a potential therapeutic target for these diseases, as it is involved in the pathogenesis of these conditions. * Inhibition of GJA8 has been shown to inhibit gap junction formation and function, which can lead to the development of heart disease, stroke, and cancer. **Additional notes:** * GJA8 is a highly conserved protein, with similar sequences found in organisms from yeast to humans. * It is expressed in a variety of cell types, including endothelial cells, epithelial cells, and immune cells. * GJA8 is a key regulator of cell-cell communication and tissue development.

Genular Protein ID: 890967796

Symbol: CXA8_HUMAN

Name: Gap junction alpha-8 protein

UniProtKB Accession Codes:

P48165 A7L5M5 Q5VVN9 Q9NP25

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 4 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 8 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 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 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 2 SAM 1 SMART 2 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7796604

Title: The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.

PubMed ID: 7796604

DOI: 10.3109/02713689509033517

PubMed ID: 8549164

Title:

PubMed ID: 8549164

DOI: 10.3109/02713689508995138

PubMed ID: 16710414

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

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 9497259

Title: A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q.

PubMed ID: 9497259

DOI: 10.1086/301762

PubMed ID: 10480374

Title: Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin.

PubMed ID: 10480374

DOI: 10.1007/s004399900094

PubMed ID: 11846744

Title: Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.

PubMed ID: 11846744

DOI: 10.1034/j.1399-0004.2001.600614.x

PubMed ID: 14627691

Title: A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

PubMed ID: 14627691

DOI: 10.1136/jmg.40.11.e124

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: 16397066

Title: A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.

PubMed ID: 16397066

DOI: 10.1136/jmg.2005.034108

PubMed ID: 16604058

Title: Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

PubMed ID: 16604058

PubMed ID: 18006672

Title: A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.

PubMed ID: 18006672

DOI: 10.1136/jmg.2007.051029

PubMed ID: 18587493

Title: A mutation in GJA8 (p.P88Q) is associated with 'balloon-like' cataract with Y-sutural opacities in a family of Indian origin.

PubMed ID: 18587493

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: 19756179

Title: The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.

PubMed ID: 19756179

PubMed ID: 21686328

Title: Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.

PubMed ID: 21686328

PubMed ID: 21921990

Title: Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.

PubMed ID: 21921990

PubMed ID: 21174522

Title: Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

PubMed ID: 21174522

DOI: 10.3109/13816810.2010.535886

PubMed ID: 23508780

Title: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PubMed ID: 23508780

DOI: 10.1007/s00439-013-1289-0

PubMed ID: 26004348

Title: Mutation analysis of two families with inherited congenital cataracts.

PubMed ID: 26004348

DOI: 10.3892/mmr.2015.3819

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: 28690483

Title: Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.

PubMed ID: 28690483

DOI: 10.1159/000471992

PubMed ID: 35531093

Title: Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

PubMed ID: 35531093

DOI: 10.3389/fcell.2022.794837

Sequence Information:

  • Length: 433
  • Mass: 48229
  • Checksum: D2BF6CD1C8768636
  • Sequence:
    • MGDWSFLGNI LEEVNEHSTV IGRVWLTVLF IFRILILGTA AEFVWGDEQS DFVCNTQQPG 
CENVCYDEAF PISHIRLWVL QIIFVSTPSL MYVGHAVHYV RMEEKRKSRE AEELGQQAGT 
NGGPDQGSVK KSSGSKGTKK FRLEGTLLRT YICHIIFKTL FEVGFIVGHY FLYGFRILPL 
YRCSRWPCPN VVDCFVSRPT EKTIFILFML SVASVSLFLN VMELGHLGLK GIRSALKRPV 
EQPLGEIPEK SLHSIAVSSI QKAKGYQLLE EEKIVSHYFP LTEVGMVETS PLPAKPFNQF 
EEKISTGPLG DLSRGYQETL PSYAQVGAQE VEGEGPPAEE GAEPEVGEKK EEAERLTTEE 
QEKVAVPEGE KVETPGVDKE GEKEEPQSEK VSKQGLPAEK TPSLCPELTT DDARPLSRLS 
KASSRARSDD LTV

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.