ENSG00000121743
Homo sapiens | |
Features
| Gene ID: | ENSG00000121743 | | | | | Biological name : | GJA3 | | | | | Synonyms : | gap junction protein alpha 3 / GJA3 / Q9Y6H8 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 13 | | Strand: | -1 | | Band: | q12.11 | | Gene start: | 20138255 | | Gene end: | 20161049 | | | | | Corresponding Affymetrix probe sets: | 208590_x_at (Human Genome U133 Plus 2.0 Array) 239572_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000241125
NCBI entrez gene - 2700
See in Manteia.
OMIM - 121015
RefSeq - NM_021954
RefSeq - XM_011535048
RefSeq Peptide - NP_068773
swissprot - Q9Y6H8
Ensembl - ENSG00000121743
| | | | | Related genetic diseases (OMIM): | 601885 - Cataract 14, multiple types, 601885 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0010920 | Zonular cataract | "Zonular cataracts are defined to be cataracts that affect specific regions of the lens." [HPO:probinson, HPO:vkumar, pmid:18035564] |
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Interacting proteins (from Reactome)
No match
0 s.
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