| Gene Information | |
|---|---|
| Gene Name | GJB2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 226 |
| Protein Names | Gap junction beta-2 protein (Connexin-26) (Cx26) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000165474 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | P29033 |
| Gene Card | GJB2 |
| Uniprot ID | P29033 |
| Pfam | PF00029 |
| In ASD | no |
| Allosteric Prediction | no (-0.547493574) |
| Ortholog in Animals | Alpaca_ GJB2 ( ortholog_one2one ) Dog_ GJB2 ( ortholog_one2one ) GuineaPig_ GJB2 ( ortholog_one2one ) Macaque_ GJB2 ( ortholog_one2one ) Mouse_ Gjb2 ( ortholog_one2one ) Pig_ GJB2 ( ortholog_one2one ) Rat_ Gjb2 ( ortholog_one2one ) Rabbit_ GJB2 ( ortholog_one2one ) |
| Ohnologs | GJB1, GJA1, GJB7, GJA1P1, GJA4, GJB3, GJB5, GJB4 |
| Paralogs | GJB6, GJB1, GJB3, GJB5, GJB4, GJB7, GJA4, GJA1, GJA8, GJA5, GJA3, GJA10, GJA9, GJD2, GJD3, GJC3, GJC2, GJC1, GJD4, GJE1 |
| Tissue | kidney, liver, small.intestine, esophagus.mucosa, vagina |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2ZW3 (X-ray 3.50A ) 3IZ1 (EM 6.00A ) 3IZ2 (EM 10.00A ) 5ER7 (X-ray 3.29A ) 5ERA (X-ray 3.80A ) 5KJ3 (NMR - ) 5KJG (NMR - ) 6UVR (EM 4.00A ) 6UVS (EM 4.20A ) 6UVT (EM 7.50A ) 7QEO (EM 2.90A ) 7QEQ (EM 1.90A ) 7QER (EM 2.20A ) 7QES (EM 2.60A ) 7QET (EM 2.10A ) 7QEU (EM 2.70A ) 7QEV (EM 2.90A ) 7QEW (EM 2.10A ) |
| DBSNP | rs104894408 rs28929485 rs2274084 rs111033190 rs111033190 rs35887622 rs72474224 rs104894407 rs104894413 rs72561723 rs28931594 rs28931594 rs104894412 rs104894404 rs104894410 rs104894403 rs1373154561 rs121912968 rs28931593 rs104894402 rs104894397 rs1555341957 rs111033218 rs104894409 rs104894409 rs1291519904 rs80338945 rs397516871 rs111033299 rs1316789942 rs80338946 rs2274083 rs111033188 rs111033196 rs397516875 rs779018464 rs779018464 rs104894401 rs80338948 rs111033186 rs28931592 rs34988750 rs376898963 rs111033360 rs200104362 rs774518779 rs568612627 rs28931595 rs80338950 rs80338950 rs998045226 rs397516878 rs777236559 rs104894406 rs76838169 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:16849369, ECO:0000269|PubMed:17551008, ECO:0000269|PubMed:19340074, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:21094651, ECO:0000269|PubMed:26753910}; Multi-pass membrane protein {ECO:0000269|PubMed:17551008, ECO:0000269|PubMed:19340074, ECO:0000269|PubMed:21094651, ECO:0000269|PubMed:26753910}. Cell junction, gap junction {ECO:0000269|PubMed:16849369, ECO:0000269|PubMed:17551008, ECO:0000269|PubMed:19340074, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:21094651, ECO:0000269|PubMed:26753910}. Note=Colocalizes with GJB4 at gap junction plaques in the cochlea. {ECO:0000250|UniProtKB:Q00977}. |
| Mouse PG classification | LPG |
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