BEST1
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene[2]
- Chromosome
- human chromosome 11[13]
- Cytogenetic location
- 11q12.3[19]
- Encodes
- Bestrophin 1[11]
- Expressed in
- retinal pigment epithelium, external globus pallidus, inferior olivary nucleus, C1 segment, pars reticulata, monocyte, tibial nerve, pars compacta, internal globus pallidus, putamen[20][21][22][23][24]
- Found in taxon
- Homo sapiens[12]
- Genetic association
- retinitis pigmentosa 50, bestrophinopathy, Best’s vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy[14][15][16][17]
- HomoloGene ID
- 37895[3]
- Strand orientation
- forward strand[18]
🏷️ Also known as
en ARB
en BEST
en BEST1
en Best1V1Delta2
en Bestrophin 1
en BMD
en RP50
en TU15B
en VMD2
ja ベストロフィン1
ru Бестропин 1
🔖 Identifiers · 13
- Image (Wikimedia Commons)
- Bestrophin-1 5T5N Xray Cystallography.png ↗
- Encyclopædia Britannica Online ID
- topic/BEST1
- Ensembl gene ID
- ENSG00000167995
- Ensembl transcript ID
- ENST00000534553, ENST00000378043, ENST00000449131, ENST00000524877, ENST00000524926, ENST00000526988, ENST00000529265, ENST00000533521
- Entrez Gene ID
- 7439
- Exact match
- identifiers.org
- Freebase ID
- /m/03gwqbl
- HGNC ID
- 12703
- HGNC gene symbol
- BEST1
- Microsoft Academic ID (discontinued)
- 23789363
- OMIM ID
- 607854
- RefSeq RNA ID
- NM_001139443, NM_001300786, NM_001300787, NM_004183, XM_005274210, XM_005274221, NR_134580, NM_001363591, NM_001363592, NM_001363593, XM_047427523
Show all 13 identifiers +1
- UMLS CUI
- C1826421
🔗 Connections
Expressed in 6
Chromosome 1
Found in taxon 1
Instance of 1
← Genetic association 1
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Summary
BEST1 is a gene[1].