Mus musculus Gene: Best1 | |||||||||||
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Summary | |||||||||||
InnateDB Gene | IDBG-142897.6 | ||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
Gene Symbol | Best1 | ||||||||||
Gene Name | bestrophin 1 | ||||||||||
Synonyms | Bmd; mBest1; Vmd2 | ||||||||||
Species | Mus musculus | ||||||||||
Ensembl Gene | ENSMUSG00000037418 | ||||||||||
Encoded Proteins |
bestrophin 1
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Protein Structure | |||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
Entrez Gene | |||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000167995:
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] |
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Gene Information | |||||||||||
Type | Protein coding | ||||||||||
Genomic Location | Chromosome 19:9985174-10001633 | ||||||||||
Strand | Reverse strand | ||||||||||
Band | A | ||||||||||
Transcripts |
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Interactions | |||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||
NETPATH | |||||||||||
REACTOME |
Stimuli-sensing channels pathway
Orphan transporters pathway
Ion channel transport pathway
Transmembrane transport of small molecules pathway
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KEGG | |||||||||||
INOH | |||||||||||
PID NCI | |||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||
NETPATH | |||||||||||
REACTOME |
Stimuli-sensing channels pathway
Transmembrane transport of small molecules pathway
Orphan transporters pathway
Ion channel transport pathway
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KEGG | |||||||||||
INOH | |||||||||||
PID NCI | |||||||||||
Cross-References | |||||||||||
SwissProt | |||||||||||
TrEMBL | |||||||||||
UniProt Splice Variant | |||||||||||
Entrez Gene | |||||||||||
UniGene | Mm.31577 | ||||||||||
RefSeq | NM_011913 | ||||||||||
OMIM | |||||||||||
CCDS | CCDS29568 | ||||||||||
HPRD | |||||||||||
IMGT | |||||||||||
MGI ID | |||||||||||
MGI Symbol | |||||||||||
EMBL | |||||||||||
GenPept | |||||||||||
RNA Seq Atlas | |||||||||||