help  | about  | cite  | software

Gene : BEST4 Homo sapiens

Name  ? bestrophin 4 Cytological Location  1p34.1
Brief Description  bestrophin 4
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]
  • synonyms:
  • vitelliform macular dystrophy 2-like 2,
  • VMD2L2,
  • HGNC:17106,
  • BEST4,
  • VMD2L2,
  • uc001cmm.4,
  • AF440757,
  • NM_153274,
  • OTTHUMG00000008488
  • identifiers:
  • 266675,
  • ENSG00000142959,
  • BEST4

Genome feature

Region: gene ? Length: 10684  
Location: 1:44782145-44792828 reverse strand Cyto location: 1p34.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

4 Cross References

13 Data Sets

35 Homologues

0 Located Features

97 Rna Seq Results