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Gene Information
Gene Name
VMD2
Organism
Homo sapiens (Human)
Gene Length
585
Protein Names
Bestrophin-1 (TU15B) (Vitelliform macular dystrophy protein 2)
Target Name
NA
Target Type
NA
Gene Age
NA
Evolutionary Stage
NA
AlphaFoldDB
O76090
Gene Card
BEST1
Uniprot ID
O76090
Pfam
PF01062
In ASD
no
Allosteric Prediction
NA
Ortholog in Animals
NA
Ohnologs
NA
Paralogs
NA
Tissue
NA
Tissue Specificity
Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
Pharmacological Animal Models
NA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB
8D1I
(EM
1.82A
)
8D1J
(EM
2.05A
)
8D1K
(EM
2.28A
)
8D1L
(EM
2.12A
)
8D1M
(EM
3.11A
)
8D1O
(EM
2.44A
)
DBSNP
rs28940275
rs281865204
rs281865205
rs28940276
rs281865206
rs281865207
rs281865208
rs281865209
rs281865210
rs281865211
rs281865212
rs281865213
rs281865215
rs281865214
rs281865216
rs281865217
rs281865218
rs121918288
rs28940278
rs281865529
rs1591280714
rs281865221
rs281865530
rs28940274
rs121918289
rs281865223
rs281865224
rs281865225
rs281865224
rs28940273
rs281865226
rs281865227
rs281865228
rs281865229
rs281865230
rs281865232
rs281865231
rs281865273
rs1445469923
rs1805142
rs281865233
rs281865234
rs281865235
rs267606678
rs121918284
rs1800995
rs1417478879
rs200277476
rs199529046
rs765998048
rs267606680
rs74653691
rs281865237
rs281865275
rs281865238
rs281865239
rs281865238
rs281865240
rs281865241
rs281865242
rs281865243
rs267606677
rs28941469
rs267606676
rs281865244
rs281865245
rs281865245
rs121918291
rs281865246
rs121918290
rs281865247
rs137853905
rs28940570
rs281865276
rs281865248
rs281865250
rs281865251
rs281865253
rs281865254
rs281865255
rs1805143
rs1805143
rs281865257
rs28941468
rs1805144
rs281865258
rs281865261
rs281865259
rs281865263
rs281865262
rs281865263
rs281865264
rs281865265
rs281865267
rs281865266
rs281865268
rs281865269
rs281865270
rs281865271
rs281865277
rs121918287
rs368387447
rs17854138
rs200582915
rs147192139
rs281865283
rs148060787
rs1800010
Subcellular location [CC]
Cell membrane {ECO:0000269|PubMed:19853238, ECO:0000269|PubMed:26200502};
Multi-pass membrane protein {ECO:0000269|PubMed:19853238}. Basolateral cell membrane {ECO:0000269|PubMed:19853238, ECO:0000269|PubMed:26200502}.
Mouse PG classification
NA
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