Details for: GJA8

Gene ID: 2703

Symbol: GJA8

Ensembl ID: ENSG00000121634

Description: gap junction protein alpha 8

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: lens fiber cell (CL0011004)
    Fold Change: 0.2297
    Cell Significance Index: 7.2700
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.1812
    Cell Significance Index: 1.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1292
    Cell Significance Index: 175.7300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1250
    Cell Significance Index: 192.3600
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.1176
    Cell Significance Index: 1.5200
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: 0.1126
    Cell Significance Index: 1.5200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0801
    Cell Significance Index: 1.3400
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.0578
    Cell Significance Index: 0.6900
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.0255
    Cell Significance Index: 0.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0170
    Cell Significance Index: 31.2900
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.0087
    Cell Significance Index: 0.1000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0013
    Cell Significance Index: 0.0500
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: -0.0012
    Cell Significance Index: -0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0013
    Cell Significance Index: -2.4600
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.0017
    Cell Significance Index: -0.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0029
    Cell Significance Index: -2.0900
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: -0.0040
    Cell Significance Index: -0.0400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0043
    Cell Significance Index: -2.3300
  • Cell Name: stem cell (CL0000034)
    Fold Change: -0.0053
    Cell Significance Index: -0.0400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0056
    Cell Significance Index: -2.5400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0084
    Cell Significance Index: -0.2100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0095
    Cell Significance Index: -1.9100
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.0123
    Cell Significance Index: -0.1300
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: -0.0161
    Cell Significance Index: -0.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0171
    Cell Significance Index: -2.9200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0175
    Cell Significance Index: -2.5400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0256
    Cell Significance Index: -0.8900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0256
    Cell Significance Index: -2.9300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0259
    Cell Significance Index: -0.4000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0266
    Cell Significance Index: -2.7200
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: -0.0337
    Cell Significance Index: -0.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0354
    Cell Significance Index: -1.8400
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: -0.0357
    Cell Significance Index: -0.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0384
    Cell Significance Index: -2.5800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0396
    Cell Significance Index: -0.7800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0441
    Cell Significance Index: -1.1800
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: -0.0463
    Cell Significance Index: -0.6000
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0484
    Cell Significance Index: -0.5700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0487
    Cell Significance Index: -2.7300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0506
    Cell Significance Index: -1.4900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0532
    Cell Significance Index: -2.7700
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0559
    Cell Significance Index: -0.7100
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0572
    Cell Significance Index: -1.1400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0589
    Cell Significance Index: -1.9300
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.0604
    Cell Significance Index: -0.7100
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.0612
    Cell Significance Index: -0.7000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0619
    Cell Significance Index: -1.9700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0652
    Cell Significance Index: -1.3600
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: -0.0708
    Cell Significance Index: -0.8500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0779
    Cell Significance Index: -1.1500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0787
    Cell Significance Index: -1.7000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0847
    Cell Significance Index: -1.7000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0849
    Cell Significance Index: -0.9900
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0876
    Cell Significance Index: -0.8300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0890
    Cell Significance Index: -2.5400
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0916
    Cell Significance Index: -1.2400
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.0953
    Cell Significance Index: -1.1300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0954
    Cell Significance Index: -2.4300
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.0968
    Cell Significance Index: -0.8800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0983
    Cell Significance Index: -1.7000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0989
    Cell Significance Index: -1.9600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0999
    Cell Significance Index: -2.1200
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1010
    Cell Significance Index: -1.3000
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: -0.1016
    Cell Significance Index: -1.2100
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: -0.1122
    Cell Significance Index: -1.3700
  • Cell Name: stromal cell (CL0000499)
    Fold Change: -0.1166
    Cell Significance Index: -1.1900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1177
    Cell Significance Index: -1.2200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1210
    Cell Significance Index: -2.9300
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: -0.1248
    Cell Significance Index: -1.4500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1257
    Cell Significance Index: -1.8000
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.1287
    Cell Significance Index: -1.3800
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.1299
    Cell Significance Index: -2.5400
  • Cell Name: goblet cell (CL0000160)
    Fold Change: -0.1388
    Cell Significance Index: -1.2600
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.1389
    Cell Significance Index: -1.8900
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.1392
    Cell Significance Index: -2.3800
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1432
    Cell Significance Index: -0.8500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1441
    Cell Significance Index: -1.5700
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: -0.1464
    Cell Significance Index: -1.2600
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.1467
    Cell Significance Index: -1.9500
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.1479
    Cell Significance Index: -1.9300
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1540
    Cell Significance Index: -1.4700
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.1575
    Cell Significance Index: -1.7100
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.1632
    Cell Significance Index: -1.9700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1633
    Cell Significance Index: -2.7500
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.1660
    Cell Significance Index: -2.8200
  • Cell Name: fibroblast (CL0000057)
    Fold Change: -0.1672
    Cell Significance Index: -1.5700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1717
    Cell Significance Index: -2.8300
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.1735
    Cell Significance Index: -1.8300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.1815
    Cell Significance Index: -2.4200
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.1840
    Cell Significance Index: -2.9800
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.1882
    Cell Significance Index: -2.5100
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: -0.1883
    Cell Significance Index: -2.0900
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.1956
    Cell Significance Index: -2.0700
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.1961
    Cell Significance Index: -2.4100
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.1968
    Cell Significance Index: -2.5900
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.2021
    Cell Significance Index: -2.0000
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.2037
    Cell Significance Index: -2.1200
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.2064
    Cell Significance Index: -2.4800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.2090
    Cell Significance Index: -3.0400
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.2097
    Cell Significance Index: -2.6200

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:** 1. **Gap Junction Protein:** GJA8 is a member of the connexin family, which forms the core of gap junctions. These proteins allow for the direct exchange of ions, metabolites, and signaling molecules between adjacent cells. 2. **Widespread Expression:** GJA8 is expressed in various cell types, including progenitor cells, oligodendrocyte precursor cells, microglial cells, blood vessel endothelial cells, and lens epithelial cells. 3. **Cellular Functions:** The specific cellular functions of GJA8 are still not fully understood, but it is involved in cell-cell signaling, lens development, and regulation of GM-CSF production. 4. **Pathway Involvement:** GJA8 is implicated in various cellular pathways, including cell-cell signaling, gap junction-mediated intercellular transport, gap junction assembly, gap junction channel activity, gap junction trafficking, and regulation of granulocyte macrophage colony-stimulating factor production. **Pathways and Functions:** Gap junctions, formed by GJA8 and other connexin family members, facilitate direct cell-to-cell communication by allowing the exchange of ions, metabolites, and signaling molecules. This communication is essential for maintaining tissue homeostasis, regulating cellular processes, and responding to pathological stimuli. Some of the key pathways and functions associated with GJA8 include: 1. **Cell-cell Signaling:** GJA8 enables the exchange of signaling molecules between adjacent cells, allowing for coordinated responses to environmental cues and pathological stimuli. 2. **Gap Junction-Mediated Intercellular Transport:** GJA8 facilitates the exchange of ions, metabolites, and signaling molecules between cells, regulating cellular processes and maintaining tissue homeostasis. 3. **Gap Junction Assembly:** GJA8 is involved in the assembly of gap junctions, which are essential for maintaining tissue homeostasis and regulating cellular processes. 4. **Gap Junction Channel Activity:** GJA8 forms the channel through which ions, metabolites, and signaling molecules are exchanged between cells. 5. **Gap Junction Trafficking:** GJA8 is involved in the trafficking of gap junctions, regulating their distribution and function within the tissue. 6. **Regulation of Granulocyte Macrophage Colony-Stimulating Factor (GM-CSF) Production:** GJA8 is involved in regulating the production of GM-CSF, a cytokine that plays a critical role in immune responses. **Clinical Significance:** Dysregulation of GJA8 has been implicated in various diseases, including: 1. **Lens Development Disorders:** Abnormal expression of GJA8 in lens epithelial cells has been linked to lens development disorders, such as cataracts and glaucoma. 2. **Neurological Disorders:** GJA8 has been implicated in neurological disorders, including Alzheimer's disease, Parkinson's disease, and multiple sclerosis. 3. **Immune System Disorders:** Dysregulation of GJA8 has been linked to immune system disorders, including autoimmune diseases and cancer. 4. **Cardiovascular Diseases:** GJA8 has been implicated in cardiovascular diseases, including heart failure and atherosclerosis. In conclusion, the GJA8 gene plays a crucial role in intercellular communication, tissue homeostasis, and disease pathogenesis. Further research is needed to fully understand the functions of GJA8 and its involvement in various diseases.

Genular Protein ID: 890967796

Symbol: CXA8_HUMAN

Name: Gap junction alpha-8 protein

UniProtKB Accession Codes:

Database IDs:

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. 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.