WormBase Tree Display for Gene: HGNC:17106
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HGNC:17106 | Identity | Name | CGC_name | Best4 | Inferred_automatically | AGR_import |
---|---|---|---|---|---|---|
Other_name | RGD:1344321 | |||||
MGC126872 | ||||||
VMD2L2 | ||||||
bestrophin-4 | ||||||
vitelliform macular dystrophy 2-like 2 | ||||||
vitelliform macular dystrophy 2-like protein 2 | ||||||
Public_name | Best4 | |||||
DB_info | Database | HGNC | id | 17106 | ||
AGR | cURI | HGNC:17106 | ||||
EnsEMBL | ENSEMBL_geneID | ENSG00000142959 | ||||
UniProt | UniProt_AC | Q8NFU0 | ||||
Species | Homo sapiens | |||||
Status | Live | |||||
Gene_info | Biotype | SO:0001217 | ||||
Ortholog (21) | ||||||
Structured_description | Automated_description | This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008] | Inferred_automatically | AGR_import |