GJB2 Vertebrate HGNC

Vertebrate Homology

Source

Alliance of Genome Resources

Comparative GO Graph (mouse, human, rat, zebrafish)

Alliance Homology Information

Species	Symbol	Gene Links	Genetic Location	Genome Coordinates (mouse and human only)	Associated Human Diseases	Sequences select all deselect all Go
human	GJB2	HGNC:4284 (HGNC) 2706 (Entrez Gene) 121011 (OMIM) GJB2 (Alliance of Genome Resources)	Chr13 q12.11	Chr13:20187463-20192938 (-) GRCh38	autosomal dominant keratitis-ichthyosis-deafness syndrome autosomal dominant nonsyndromic deafness 3A autosomal recessive nonsyndromic deafness 1A Bart-Pumphrey syndrome palmoplantar keratoderma-deafness syndrome Vohwinkel syndrome	P29033 (UniProt \| EBI) NM_004004 (RefSeq)
mouse	Gjb2	MGI:95720 (MGI) 14619 (Entrez Gene) Gene Tree Gjb2 (Alliance of Genome Resources)	Chr14 30.1 cM	Chr14:57336059-57342159 (-) GRCm39	autosomal dominant keratitis-ichthyosis-deafness syndrome autosomal recessive nonsyndromic deafness 1A	14619 (NCBI Gene Model) Q00977 (UniProt \| EBI) NM_008125 (RefSeq)
rat	Gjb2	RGD:728891 (Rat Genome Database) 394266 (Entrez Gene) Gjb2 (Alliance of Genome Resources)	Chr15 p12			P21994 (UniProt \| EBI) NM_001004099 (RefSeq)
zebrafish	gjb8	ZDB-GENE-040406-1 (Zebrafish Model Organism Database) 404725 (Entrez Gene) gjb8 (Alliance of Genome Resources)	Chr9			NP_997990 (RefSeq) NM_212825 (RefSeq)

Alliance Homology Information

MGI loads orthology data based on the 'stringent' set from the Alliance of Genome Resources. The Alliance sets are based on a scoring system developed by the Alliance in collaboration with DIOPT.

MGI includes orthology for the following vertebrate species from the Alliance:
- human
- mouse
- rat
- zebrafish

These are a subset of the total species represented in the Alliance; there may be stringent set orthologs in other Alliance species.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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