GJA3 (gap junction protein alpha 3)

2010-08-01  

Identity

HGNC
LOCATION
13q12.11
LOCUSID
ALIAS
CTRCT14,CX46,CZP3

Other Information

Locus ID:

NCBI: 2700
MIM: 121015
HGNC: 4277
Ensembl: ENSG00000121743

Variants:

dbSNP: 2700
ClinVar: 2700
TCGA: ENSG00000121743
COSMIC: GJA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121743ENST00000241125Q9Y6H8

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction assemblyREACTOMER-HSA-190861

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
381780392024Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.0
381780392024Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.0
375899892023GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.2
378921422023Connexins in Cancer, the Possible Role of Connexin46 as a Cancer Stem Cell-Determining Protein.0
375899892023GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.2
378921422023Connexins in Cancer, the Possible Role of Connexin46 as a Cancer Stem Cell-Determining Protein.0
331409042021Connexins in melanoma: Potential role of Cx46 in its aggressiveness.5
342262952021Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the fiber cells of human and mouse lenses accounts for the diminished coupling conductance.8
348304852021Connexin46 Expression Enhances Cancer Stem Cell and Epithelial-to-Mesenchymal Transition Characteristics of Human Breast Cancer MCF-7 Cells.12
331409042021Connexins in melanoma: Potential role of Cx46 in its aggressiveness.5
342262952021Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the fiber cells of human and mouse lenses accounts for the diminished coupling conductance.8
348304852021Connexin46 Expression Enhances Cancer Stem Cell and Epithelial-to-Mesenchymal Transition Characteristics of Human Breast Cancer MCF-7 Cells.12
323539362020Connexin-46 Contained in Extracellular Vesicles Enhance Malignancy Features in Breast Cancer Cells.15
328088102020Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.2
329717632020Lens Connexin Channels Show Differential Permeability to Signaling Molecules.12

Citation

Dessen P

GJA3 (gap junction protein alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51586/gja3