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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. GJA1, gap junction protein, alpha 1, 43kDa
Sequence ID:NM_000165
RefSeqGene ID:NG_008308
Entrez Gene ID:2697
Ensembl ID:ENSG00000152661

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, pineal gland, placenta, pooled tissue, prostate, retina, skin, soft tissue, spleen, stem cell, stomach, synovium, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
ATRIOVENTRICULAR SEPTAL DEFECT 3 
HALLERMANN-STREIFF SYNDROME 
HYPOPLASTIC LEFT HEART SYNDROME 1 
OCULODENTODIGITAL DYSPLASIA 
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE 
SYNDACTYLY, TYPE III 

Cytogenetic Location (from UniGene)

Cytogenetic Location:6q21-q23.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:6: 121756791 - 121769618

NM_000165 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
1234121756744121756977
2353129121767977121770871

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4794131Full LengthBC026329gap junction protein, alpha 1, 43kDa

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000156  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000165 NP_000156 P17302 Connexin
Connexin43

Related Sequences

 
mRNAGenPeptSwissProt
M65188 AAA52131 P17302
BC026329 AAH26329 P17302
DQ893649 ABM84575  
DQ895611 ABM86537  
AK223289 BAD97009 Q53FJ6
AK312324 BAG35246 P17302
AK294670 BAG57837 B4DGM6
AK295460 BAG58393 B4DI81
AK297761 BAG60109 B4DN47
AK297764 BAG60112 B4DN50
X52947 CAA37122 P17302
CR541660 CAG46461 P17302

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens GJA1 NP_000156 R.norvegicus Gja1 24392   NP_036699 98
M.musculus Gja1 14609 Gene Info NP_034418 97

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta