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0VMDL3_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
DescriptionBestrophin-4 (vitelliform macular dystrophy 2-like protein 3).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0016021 integral to membrane (ISS)
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Bestrophin is a 68-kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene.hich is mutated in Best macular dystrophy. disease characterised by a depressed light peak in the electrooculogram . VMD2 encodes a 585-amino acid protein with an approximate mass of 68 kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegans RFP gene family.amed for the presence of a conserved arginine (R).henylalanine (F).roline (P).mino acid sequence motif. Bestrophin is a plasma membrane protein.ocalised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of chloride channels.ndicating a direct role for bestrophin in generating the light peak . The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal RFP-TM domain implying important functional properties .
SequencesProtein: VMDL3_HUMAN (668 aa)
mRNA: No corresponding mRNA found
Local Annotation
Synapse Ontology
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 391 residues, 68334688-68335860Exon2: 52 residues, 68351474-68351626Exon3: 29 residues, 68352931-68353012Exon4: 53 residues, 68356962-68357115Exon5: 28 residues, 68357226-68357304Exon6: 53 residues, 68358785-68358940Exon7: 80 residues, 68373720-68373954Exon8: 33 residues, 68374416-68374511Exon9: 57 residues, 68377693-68377860Exon10: 73 residues, 68379250-68379463Exon11: 2 residues, -Jump to VMDL3_HUMAN  
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Loci Cluster (Details)Loci: 2772 68419454-68495770 ~-76K 9310(RAB3IP)(+)Loci: 4060 68334688-68379463 ~-45K 9306(VMD2L3)(-)Link out to UCSC