BEST4 (bestrophin 4) - Rat Genome Database

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Gene: BEST4 (bestrophin 4) Homo sapiens
Analyze
Symbol: BEST4
Name: bestrophin 4
RGD ID: 1344321
HGNC Page HGNC:17106
Description: Enables bicarbonate channel activity and intracellularly calcium-gated chloride channel activity. Predicted to be involved in bicarbonate transport and chloride transmembrane transport. Predicted to be located in plasma membrane. Predicted to be part of chloride channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bestrophin-4; MGC126872; vitelliform macular dystrophy 2-like 2; vitelliform macular dystrophy 2-like protein 2; VMD2L2
RGD Orthologs
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38144,781,840 - 44,792,828 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl144,783,585 - 44,788,170 (-)EnsemblGRCh38hg38GRCh38
GRCh37145,249,257 - 45,253,842 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36145,021,844 - 45,026,013 (-)NCBINCBI36Build 36hg18NCBI36
Build 34144,918,351 - 44,922,470NCBI
Celera143,532,138 - 43,536,307 (-)NCBICelera
Cytogenetic Map1p34.1NCBI
HuRef143,362,307 - 43,366,475 (-)NCBIHuRef
CHM1_1145,365,170 - 45,369,339 (-)NCBICHM1_1
T2T-CHM13v2.0144,652,829 - 44,664,929 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9700209   PMID:12032738   PMID:12477932   PMID:12907679   PMID:15489334   PMID:16702355   PMID:16710414   PMID:18400985   PMID:19237432   PMID:21873635   PMID:24223998   PMID:36724073  


Genomics

Comparative Map Data
BEST4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38144,781,840 - 44,792,828 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl144,783,585 - 44,788,170 (-)EnsemblGRCh38hg38GRCh38
GRCh37145,249,257 - 45,253,842 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36145,021,844 - 45,026,013 (-)NCBINCBI36Build 36hg18NCBI36
Build 34144,918,351 - 44,922,470NCBI
Celera143,532,138 - 43,536,307 (-)NCBICelera
Cytogenetic Map1p34.1NCBI
HuRef143,362,307 - 43,366,475 (-)NCBIHuRef
CHM1_1145,365,170 - 45,369,339 (-)NCBICHM1_1
T2T-CHM13v2.0144,652,829 - 44,664,929 (-)NCBIT2T-CHM13v2.0
Best4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85135,858,774 - 135,865,624 (+)NCBIGRCr8
mRatBN7.25130,622,194 - 130,629,045 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5130,623,438 - 130,627,099 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.05136,013,978 - 136,017,742 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5136,014,017 - 136,017,677 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05139,806,969 - 139,810,707 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45137,459,781 - 137,463,519 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5129,144,974 - 129,148,738 (+)NCBICelera
Cytogenetic Map5q36NCBI
Best4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546413,434,429 - 13,439,108 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546413,434,429 - 13,439,108 (+)NCBIChiLan1.0ChiLan1.0
BEST4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21182,006,378 - 182,024,437 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11181,148,051 - 181,165,859 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0144,087,062 - 44,104,995 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1145,453,277 - 45,456,691 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl145,452,078 - 45,456,691 (-)Ensemblpanpan1.1panPan2
BEST4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11515,535,179 - 15,539,047 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1515,535,186 - 15,538,526 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1515,655,025 - 15,659,367 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01515,690,376 - 15,694,718 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1515,690,717 - 15,694,187 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11515,487,545 - 15,491,887 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01515,554,843 - 15,559,185 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01515,627,893 - 15,632,234 (+)NCBIUU_Cfam_GSD_1.0
Best4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505860,188,095 - 60,192,387 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647426,012,887 - 26,016,511 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647426,012,887 - 26,016,511 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BEST4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6166,528,987 - 166,546,996 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16166,540,767 - 166,547,149 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26154,032,949 - 154,038,248 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BEST4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12087,997,070 - 88,008,475 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2088,002,728 - 88,009,035 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603328,929,611 - 28,933,959 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Best4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624906676,210 - 679,503 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624906676,201 - 680,424 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BEST4
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1		 pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3 copy number gain See cases [RCV000051129] Chr1:44713837..45282899 [GRCh38]
Chr1:45179509..45748571 [GRCh37]
Chr1:44952096..45521158 [NCBI36]
Chr1:1p34.1		 uncertain significance
GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3 copy number gain See cases [RCV000142581] Chr1:43896056..44867736 [GRCh38]
Chr1:44361728..45333408 [GRCh37]
Chr1:44134315..45105995 [NCBI36]
Chr1:1p34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p34.1(chr1:45237119-45287094)x1 copy number loss not provided [RCV000748971] Chr1:45237119..45287094 [GRCh37]
Chr1:1p34.1		 benign
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_153274.3(BEST4):c.165C>G (p.Thr55=) single nucleotide variant not provided [RCV000955712] Chr1:44787454 [GRCh38]
Chr1:45253126 [GRCh37]
Chr1:1p34.1		 benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3 copy number gain See cases [RCV002246181] Chr1:44346001..46332161 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.349G>A (p.Val117Met) single nucleotide variant not specified [RCV004207645] Chr1:44786595 [GRCh38]
Chr1:45252267 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.1213C>A (p.Pro405Thr) single nucleotide variant not specified [RCV004139816] Chr1:44784419 [GRCh38]
Chr1:45250091 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.477C>G (p.Asp159Glu) single nucleotide variant not specified [RCV004138747] Chr1:44786467 [GRCh38]
Chr1:45252139 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.364C>G (p.Arg122Gly) single nucleotide variant not specified [RCV004154182] Chr1:44786580 [GRCh38]
Chr1:45252252 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.983G>A (p.Arg328His) single nucleotide variant not specified [RCV004112845] Chr1:44784915 [GRCh38]
Chr1:45250587 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.1082C>T (p.Pro361Leu) single nucleotide variant not specified [RCV004199128] Chr1:44784695 [GRCh38]
Chr1:45250367 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.1318C>G (p.Pro440Ala) single nucleotide variant not specified [RCV004184160] Chr1:44784314 [GRCh38]
Chr1:45249986 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.425C>T (p.Ser142Leu) single nucleotide variant not specified [RCV004223443] Chr1:44786519 [GRCh38]
Chr1:45252191 [GRCh37]
Chr1:1p34.1		 uncertain significance
NC_000001.10:g.(?_44257753)_(46663493_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003109481] Chr1:44257753..46663493 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.1174C>A (p.Leu392Met) single nucleotide variant not specified [RCV004266739] Chr1:44784458 [GRCh38]
Chr1:45250130 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.469G>A (p.Val157Met) single nucleotide variant not specified [RCV004265946] Chr1:44786475 [GRCh38]
Chr1:45252147 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.1159G>A (p.Asp387Asn) single nucleotide variant not specified [RCV004300226] Chr1:44784473 [GRCh38]
Chr1:45250145 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.1103C>A (p.Ala368Asp) single nucleotide variant not specified [RCV004358749] Chr1:44784674 [GRCh38]
Chr1:45250346 [GRCh37]
Chr1:1p34.1		 uncertain significance
NM_153274.3(BEST4):c.382C>G (p.Leu128Val) single nucleotide variant not specified [RCV004312894] Chr1:44786562 [GRCh38]
Chr1:45252234 [GRCh37]
Chr1:1p34.1		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:375
Count of miRNA genes:303
Interacting mature miRNAs:327
Transcripts:ENST00000372207
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 357 17 4 82 4 3 50 12 50 65
Low 1346 1502 1382 245 1206 160 2764 755 3104 230 1224 1340 92 632 1603 1
Below cutoff 717 1461 312 361 629 288 1516 1368 552 166 163 192 78 571 1131 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_153274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007058647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF440757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY515707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM142321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372207   ⟹   ENSP00000361281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl144,783,585 - 44,788,170 (-)Ensembl
RefSeq Acc Id: NM_153274   ⟹   NP_695006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38144,783,585 - 44,788,170 (-)NCBI
GRCh37145,247,831 - 45,253,648 (-)NCBI
Build 36145,021,844 - 45,026,013 (-)NCBI Archive
Celera143,532,138 - 43,536,307 (-)RGD
HuRef143,362,307 - 43,366,475 (-)ENTREZGENE
CHM1_1145,365,170 - 45,369,339 (-)NCBI
T2T-CHM13v2.0144,654,571 - 44,659,156 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001023   ⟹   XP_016856512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38144,781,840 - 44,788,170 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446367   ⟹   XP_024302135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38144,783,585 - 44,792,828 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417821   ⟹   XP_047273777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38144,783,585 - 44,788,170 (-)NCBI
RefSeq Acc Id: XM_047417823   ⟹   XP_047273779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38144,783,585 - 44,788,170 (-)NCBI
RefSeq Acc Id: XM_047417826   ⟹   XP_047273782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38144,783,585 - 44,788,170 (-)NCBI
RefSeq Acc Id: XM_054335970   ⟹   XP_054191945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0144,652,829 - 44,664,929 (-)NCBI
RefSeq Acc Id: XM_054335971   ⟹   XP_054191946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0144,654,571 - 44,663,810 (-)NCBI
RefSeq Acc Id: XR_007058647
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38144,782,145 - 44,788,170 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_695006   ⟸   NM_153274
- UniProtKB: Q5JR93 (UniProtKB/Swiss-Prot),   Q8NFU0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856512   ⟸   XM_017001023
- Peptide Label: isoform X1
- UniProtKB: Q5JR93 (UniProtKB/Swiss-Prot),   Q8NFU0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302135   ⟸   XM_024446367
- Peptide Label: isoform X1
- UniProtKB: Q8NFU0 (UniProtKB/Swiss-Prot),   Q5JR93 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361281   ⟸   ENST00000372207
RefSeq Acc Id: XP_047273779   ⟸   XM_047417823
- Peptide Label: isoform X1
- UniProtKB: Q8NFU0 (UniProtKB/Swiss-Prot),   Q5JR93 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047273777   ⟸   XM_047417821
- Peptide Label: isoform X1
- UniProtKB: Q8NFU0 (UniProtKB/Swiss-Prot),   Q5JR93 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047273782   ⟸   XM_047417826
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054191945   ⟸   XM_054335970
- Peptide Label: isoform X1
- UniProtKB: Q8NFU0 (UniProtKB/Swiss-Prot),   Q5JR93 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054191946   ⟸   XM_054335971
- Peptide Label: isoform X1
- UniProtKB: Q8NFU0 (UniProtKB/Swiss-Prot),   Q5JR93 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NFU0-F1-model_v2 AlphaFold Q8NFU0 1-473 view protein structure

Promoters
RGD ID:6855322
Promoter ID:EPDNEW_H826
Type:multiple initiation site
Name:BEST4_1
Description:bestrophin 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38144,788,170 - 44,788,230EPDNEW
RGD ID:6809510
Promoter ID:HG_ACW:1887
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:BEST4.CAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36145,022,559 - 45,023,059 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17106 AgrOrtholog
COSMIC BEST4 COSMIC
Ensembl Genes ENSG00000142959 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372207 ENTREZGENE
  ENST00000372207.4 UniProtKB/Swiss-Prot
GTEx ENSG00000142959 GTEx
HGNC ID HGNC:17106 ENTREZGENE
Human Proteome Map BEST4 Human Proteome Map
InterPro Bestrophin UniProtKB/Swiss-Prot
  Bestrophin/UPF0187 UniProtKB/Swiss-Prot
KEGG Report hsa:266675 UniProtKB/Swiss-Prot
NCBI Gene 266675 ENTREZGENE
OMIM 607336 OMIM
PANTHER BESTROPHIN-4 UniProtKB/Swiss-Prot
  PTHR10736 UniProtKB/Swiss-Prot
Pfam Bestrophin UniProtKB/Swiss-Prot
PharmGKB PA162377520 PharmGKB
UniProt BEST4_HUMAN UniProtKB/Swiss-Prot
  Q5JR93 ENTREZGENE
  Q8NFU0 ENTREZGENE
UniProt Secondary Q5JR93 UniProtKB/Swiss-Prot