help  | about  | cite  | software

Gene : BEST2 Homo sapiens

Name  ? bestrophin 2 Cytological Location  19p13.13
Brief Description  bestrophin 2
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 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]
  • synonyms:
  • VMD2L1,
  • NM_017682,
  • vitelliform macular dystrophy 2-like 1,
  • VMD2L1,
  • FLJ20132,
  • HGNC:17107,
  • uc060ucm.1,
  • BEST2,
  • AF440756,
  • OTTHUMG00000169293
  • identifiers:
  • 54831,
  • ENSG00000039987,
  • BEST2

Genome feature

Region: gene ? Length: 6668  
Location: 19:12751791-12758458 Cyto location: 19p13.13

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 SN Ps

5 Cross References

14 Data Sets

32 Homologues

0 Located Features

97 Rna Seq Results