BEST3 (bestrophin 3) - Rat Genome Database

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Gene: BEST3 (bestrophin 3) Homo sapiens
Analyze
Symbol: BEST3
Name: bestrophin 3
RGD ID: 1313470
HGNC Page HGNC:17105
Description: Predicted to enable chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to act upstream of or within inorganic anion transport and negative regulation of monoatomic ion transport. Predicted to be located in plasma membrane. Predicted to be part of chloride channel complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bestrophin-3; MGC13168; MGC40411; vitelliform macular dystrophy 2-like 3; vitelliform macular dystrophy 2-like protein 3; VMD2L3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381269,643,508 - 69,699,303 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1269,643,360 - 69,699,476 (-)EnsemblGRCh38hg38GRCh38
GRCh371270,037,288 - 70,093,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361268,333,656 - 68,379,463 (-)NCBINCBI36Build 36hg18NCBI36
Build 341268,333,656 - 68,369,324NCBI
Celera1269,711,071 - 69,756,899 (-)NCBICelera
Cytogenetic Map12q15NCBI
HuRef1267,096,843 - 67,142,589 (-)NCBIHuRef
CHM1_11270,015,808 - 70,061,607 (-)NCBICHM1_1
T2T-CHM13v2.01269,622,438 - 69,684,535 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. 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:14702039   PMID:15342556   PMID:15489334   PMID:16344560   PMID:17442670   PMID:19237432   PMID:21873635   PMID:22863734  
PMID:25329324   PMID:30849546   PMID:32296183  


Genomics

Comparative Map Data
BEST3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381269,643,508 - 69,699,303 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1269,643,360 - 69,699,476 (-)EnsemblGRCh38hg38GRCh38
GRCh371270,037,288 - 70,093,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361268,333,656 - 68,379,463 (-)NCBINCBI36Build 36hg18NCBI36
Build 341268,333,656 - 68,369,324NCBI
Celera1269,711,071 - 69,756,899 (-)NCBICelera
Cytogenetic Map12q15NCBI
HuRef1267,096,843 - 67,142,589 (-)NCBIHuRef
CHM1_11270,015,808 - 70,061,607 (-)NCBICHM1_1
T2T-CHM13v2.01269,622,438 - 69,684,535 (-)NCBIT2T-CHM13v2.0
Best3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910116,822,219 - 116,865,688 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10116,822,219 - 116,860,945 (+)EnsemblGRCm39 Ensembl
GRCm3810116,986,314 - 117,025,687 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10116,986,314 - 117,025,040 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710116,423,370 - 116,462,096 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610116,390,424 - 116,429,150 (+)NCBIMGSCv36mm8
Celera10118,929,466 - 118,968,193 (+)NCBICelera
Cytogenetic Map10D2NCBI
cM Map1065.0NCBI
Best3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8754,471,938 - 54,548,885 (+)NCBIGRCr8
mRatBN7.2752,586,824 - 52,656,776 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl752,615,776 - 52,656,766 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx754,522,531 - 54,563,560 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0756,725,629 - 56,766,662 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0756,503,523 - 56,544,557 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0759,971,084 - 60,057,162 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl760,015,998 - 60,057,152 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0759,975,996 - 60,057,910 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4756,313,736 - 56,355,109 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1756,316,668 - 56,374,888 (+)NCBI
Celera749,391,628 - 49,432,605 (+)NCBICelera
Cytogenetic Map7q22NCBI
Best3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554059,959,003 - 9,989,352 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554059,957,595 - 10,031,193 (-)NCBIChiLan1.0ChiLan1.0
BEST3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21077,685,483 - 77,740,413 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11277,681,881 - 77,736,811 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01267,169,603 - 67,225,839 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11269,940,055 - 69,995,597 (-)NCBIpanpan1.1PanPan1.1panPan2
BEST3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11011,598,331 - 11,637,516 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1011,600,337 - 11,638,178 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1011,556,177 - 11,567,217 (-)NCBIDog10K_Boxer_Tasha
Dog10K_Boxer_Tasha1011,531,886 - 11,555,527 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01011,723,752 - 11,747,644 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.01011,748,299 - 11,761,164 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11011,615,078 - 11,627,938 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01011,837,553 - 11,861,617 (-)NCBIUNSW_CanFamBas_1.0
UNSW_CanFamBas_1.01011,862,272 - 11,875,136 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01011,960,951 - 11,984,816 (-)NCBIUU_Cfam_GSD_1.0
UU_Cfam_GSD_1.01011,985,471 - 11,998,336 (-)NCBIUU_Cfam_GSD_1.0
Best3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494546,551,957 - 46,620,636 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365457,489,569 - 7,523,407 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365457,487,836 - 7,558,868 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BEST3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl533,904,975 - 33,956,637 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1533,909,973 - 33,957,171 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2536,513,773 - 36,555,268 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BEST3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11165,281,776 - 65,328,492 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1165,283,138 - 65,326,536 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037180,363,323 - 180,417,652 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Best3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475028,122,824 - 28,161,926 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475028,086,093 - 28,163,307 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BEST3
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032735.2(BEST3):c.1823C>T (p.Pro608Leu) single nucleotide variant Malignant melanoma [RCV000062589] Chr12:69655091 [GRCh38]
Chr12:70048871 [GRCh37]
Chr12:68335138 [NCBI36]
Chr12:12q15
not provided
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1 copy number loss See cases [RCV000135587] Chr12:68011417..75383054 [GRCh38]
Chr12:68405197..75776834 [GRCh37]
Chr12:66691464..74063101 [NCBI36]
Chr12:12q15-21.2
likely pathogenic|uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1 copy number loss See cases [RCV000142445] Chr12:65445176..71026337 [GRCh38]
Chr12:65838956..71420117 [GRCh37]
Chr12:64125223..69706384 [NCBI36]
Chr12:12q14.3-15
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1 copy number loss See cases [RCV000447164] Chr12:59495114..70574966 [GRCh37]
Chr12:12q14.1-15
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33
pathogenic
GRCh37/hg19 12q15(chr12:70005534-70122623)x3 copy number gain not provided [RCV000737932] Chr12:70005534..70122623 [GRCh37]
Chr12:12q15
benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_032735.3(BEST3):c.178C>T (p.Arg60Cys) single nucleotide variant Inborn genetic diseases [RCV003250203] Chr12:69694439 [GRCh38]
Chr12:70088219 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1130A>G (p.Glu377Gly) single nucleotide variant Inborn genetic diseases [RCV003293801] Chr12:69655784 [GRCh38]
Chr12:70049564 [GRCh37]
Chr12:12q15
uncertain significance
NM_001282614.2(BEST3):c.1148C>T (p.Pro383Leu) single nucleotide variant not provided [RCV001621663] Chr12:69643740 [GRCh38]
Chr12:70037520 [GRCh37]
Chr12:12q15
benign
NM_032735.3(BEST3):c.147A>G (p.Val49=) single nucleotide variant not provided [RCV001678805] Chr12:69697652 [GRCh38]
Chr12:70091432 [GRCh37]
Chr12:12q15
benign
GRCh37/hg19 12q15(chr12:68572386-70833868)x1 copy number loss not provided [RCV001259617] Chr12:68572386..70833868 [GRCh37]
Chr12:12q15
pathogenic
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1 copy number loss not provided [RCV001537907] Chr12:65251705..75263379 [GRCh37]
Chr12:12q14.3-21.1
pathogenic
GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1 copy number loss not provided [RCV001834178] Chr12:70084476..77065764 [GRCh37]
Chr12:12q15-21.2
pathogenic
NM_032735.3(BEST3):c.1766G>A (p.Arg589Lys) single nucleotide variant Inborn genetic diseases [RCV003277608] Chr12:69655148 [GRCh38]
Chr12:70048928 [GRCh37]
Chr12:12q15
uncertain significance
Single allele duplication not provided [RCV002275643] Chr12:69331823..69683009 [GRCh38]
Chr12:12q15
uncertain significance
GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1 copy number loss not provided [RCV002511748] Chr12:64609458..70352103 [GRCh37]
Chr12:12q14.2-15
pathogenic
NM_032735.3(BEST3):c.1501C>T (p.Pro501Ser) single nucleotide variant Inborn genetic diseases [RCV002882542] Chr12:69655413 [GRCh38]
Chr12:70049193 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1018G>A (p.Asp340Asn) single nucleotide variant Inborn genetic diseases [RCV002864766] Chr12:69671510 [GRCh38]
Chr12:70065290 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.633G>T (p.Met211Ile) single nucleotide variant Inborn genetic diseases [RCV002973646] Chr12:69678742 [GRCh38]
Chr12:70072522 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1125C>A (p.Asp375Glu) single nucleotide variant Inborn genetic diseases [RCV002758171] Chr12:69655789 [GRCh38]
Chr12:70049569 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.489G>A (p.Met163Ile) single nucleotide variant Inborn genetic diseases [RCV002782765] Chr12:69678886 [GRCh38]
Chr12:70072666 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.109A>G (p.Ile37Val) single nucleotide variant Inborn genetic diseases [RCV002949917] Chr12:69697690 [GRCh38]
Chr12:70091470 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.587G>A (p.Arg196Gln) single nucleotide variant Inborn genetic diseases [RCV002887598] Chr12:69678788 [GRCh38]
Chr12:70072568 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1864G>A (p.Glu622Lys) single nucleotide variant Inborn genetic diseases [RCV002786971] Chr12:69655050 [GRCh38]
Chr12:70048830 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1511T>C (p.Leu504Ser) single nucleotide variant Inborn genetic diseases [RCV002983934] Chr12:69655403 [GRCh38]
Chr12:70049183 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.352G>A (p.Asp118Asn) single nucleotide variant Inborn genetic diseases [RCV002985034] Chr12:69693803 [GRCh38]
Chr12:70087583 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1604A>C (p.Gln535Pro) single nucleotide variant Inborn genetic diseases [RCV002935235] Chr12:69655310 [GRCh38]
Chr12:70049090 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1031G>A (p.Arg344His) single nucleotide variant Inborn genetic diseases [RCV002746844] Chr12:69671497 [GRCh38]
Chr12:70065277 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.458C>A (p.Thr153Lys) single nucleotide variant Inborn genetic diseases [RCV003008614] Chr12:69693697 [GRCh38]
Chr12:70087477 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.254A>C (p.Tyr85Ser) single nucleotide variant Inborn genetic diseases [RCV002702665] Chr12:69693901 [GRCh38]
Chr12:70087681 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1327C>G (p.Pro443Ala) single nucleotide variant Inborn genetic diseases [RCV002678978] Chr12:69655587 [GRCh38]
Chr12:70049367 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1130A>C (p.Glu377Ala) single nucleotide variant Inborn genetic diseases [RCV002723486] Chr12:69655784 [GRCh38]
Chr12:70049564 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.355G>A (p.Glu119Lys) single nucleotide variant Inborn genetic diseases [RCV003192074] Chr12:69693800 [GRCh38]
Chr12:70087580 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.2000C>T (p.Pro667Leu) single nucleotide variant Inborn genetic diseases [RCV003206594] Chr12:69654914 [GRCh38]
Chr12:70048694 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1207G>A (p.Glu403Lys) single nucleotide variant Inborn genetic diseases [RCV003215274] Chr12:69655707 [GRCh38]
Chr12:70049487 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1970T>C (p.Ile657Thr) single nucleotide variant Inborn genetic diseases [RCV003175207] Chr12:69654944 [GRCh38]
Chr12:70048724 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1964A>G (p.Asp655Gly) single nucleotide variant Inborn genetic diseases [RCV003379111] Chr12:69654950 [GRCh38]
Chr12:70048730 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1895T>C (p.Ile632Thr) single nucleotide variant Inborn genetic diseases [RCV003359025] Chr12:69655019 [GRCh38]
Chr12:70048799 [GRCh37]
Chr12:12q15
uncertain significance
NM_032735.3(BEST3):c.1599G>T (p.Gly533=) single nucleotide variant not provided [RCV003398183] Chr12:69655315 [GRCh38]
Chr12:70049095 [GRCh37]
Chr12:12q15
likely benign
NM_032735.3(BEST3):c.1644C>T (p.Ser548=) single nucleotide variant not provided [RCV003410929] Chr12:69655270 [GRCh38]
Chr12:70049050 [GRCh37]
Chr12:12q15
likely benign
NM_032735.3(BEST3):c.1052C>G (p.Ala351Gly) single nucleotide variant not provided [RCV003740595] Chr12:69671476 [GRCh38]
Chr12:70065256 [GRCh37]
Chr12:12q15
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3464
Count of miRNA genes:1120
Interacting mature miRNAs:1342
Transcripts:ENST00000266661, ENST00000330891, ENST00000331471, ENST00000393365, ENST00000476098, ENST00000488961, ENST00000529843, ENST00000533674, ENST00000547208, ENST00000548658, ENST00000551160, ENST00000552295, ENST00000553096
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
RH93788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,047,625 - 70,047,767UniSTSGRCh37
Build 361268,333,892 - 68,334,034RGDNCBI36
Celera1269,711,307 - 69,711,449RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,097,079 - 67,097,221UniSTS
GeneMap99-GB4 RH Map12292.25UniSTS
RH102802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,065,211 - 70,065,344UniSTSGRCh37
Build 361268,351,478 - 68,351,611RGDNCBI36
Celera1269,728,893 - 69,729,026RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,114,579 - 67,114,712UniSTS
GeneMap99-GB4 RH Map12276.38UniSTS
RH120549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,091,771 - 70,092,106UniSTSGRCh37
Build 361268,378,038 - 68,378,373RGDNCBI36
Celera1269,755,474 - 69,755,809RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,141,164 - 67,141,499UniSTS
TNG Radiation Hybrid Map1233484.0UniSTS
D12S1816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,078,842 - 70,078,947UniSTSGRCh37
Build 361268,365,109 - 68,365,214RGDNCBI36
Celera1269,742,529 - 69,742,634RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,128,225 - 67,128,330UniSTS
RH44577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,079,772 - 70,079,959UniSTSGRCh37
Build 361268,366,039 - 68,366,226RGDNCBI36
Celera1269,743,459 - 69,743,646RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,129,155 - 67,129,342UniSTS
GeneMap99-GB4 RH Map12291.71UniSTS
NCBI RH Map12510.0UniSTS
SHGC-33073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,079,833 - 70,079,959UniSTSGRCh37
Build 361268,366,100 - 68,366,226RGDNCBI36
Celera1269,743,520 - 69,743,646RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,129,216 - 67,129,342UniSTS
TNG Radiation Hybrid Map1233494.0UniSTS
Stanford-G3 RH Map122881.0UniSTS
GeneMap99-GB4 RH Map12291.71UniSTS
Whitehead-RH Map12390.2UniSTS
NCBI RH Map12522.5UniSTS
GeneMap99-G3 RH Map122827.0UniSTS
RH44642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,055,569 - 70,055,749UniSTSGRCh37
Build 361268,341,836 - 68,342,016RGDNCBI36
Celera1269,719,252 - 69,719,432RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,105,028 - 67,105,208UniSTS
GeneMap99-GB4 RH Map12291.5UniSTS
SHGC-34028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,055,682 - 70,055,789UniSTSGRCh37
Build 361268,341,949 - 68,342,056RGDNCBI36
Celera1269,719,365 - 69,719,472RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,105,141 - 67,105,248UniSTS
TNG Radiation Hybrid Map1233399.0UniSTS
GeneMap99-GB4 RH Map12277.46UniSTS
Whitehead-RH Map12390.2UniSTS
NCBI RH Map12540.3UniSTS
GeneMap99-G3 RH Map122827.0UniSTS
A009W40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,079,686 - 70,079,844UniSTSGRCh37
Build 361268,365,953 - 68,366,111RGDNCBI36
Celera1269,743,373 - 69,743,531RGD
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,129,069 - 67,129,227UniSTS
GeneMap99-GB4 RH Map12292.25UniSTS
NCBI RH Map12522.5UniSTS
G32926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371270,079,686 - 70,079,844UniSTSGRCh37
Celera1269,743,373 - 69,743,531UniSTS
Cytogenetic Map12q14.2-q15UniSTS
HuRef1267,129,069 - 67,129,227UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 2 9 56 1 611 612 27 3 42 10 611
Low 35 26 246 92 47 28 313 230 1871 80 488 76 66 1 5 260 1
Below cutoff 1296 2350 882 242 1333 154 2566 874 1662 245 583 928 95 728 1495 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF440758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY515706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF739974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP225850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX374313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA767581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000266661   ⟹   ENSP00000266661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,683,239 - 69,699,476 (-)Ensembl
RefSeq Acc Id: ENST00000330891   ⟹   ENSP00000332413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,653,609 - 69,699,303 (-)Ensembl
RefSeq Acc Id: ENST00000331471   ⟹   ENSP00000329064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,643,554 - 69,699,361 (-)Ensembl
RefSeq Acc Id: ENST00000476098   ⟹   ENSP00000434713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,669,679 - 69,699,351 (-)Ensembl
RefSeq Acc Id: ENST00000488961   ⟹   ENSP00000433213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,653,609 - 69,689,276 (-)Ensembl
RefSeq Acc Id: ENST00000529843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,684,365 - 69,689,211 (-)Ensembl
RefSeq Acc Id: ENST00000533674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,687,259 - 69,699,344 (-)Ensembl
RefSeq Acc Id: ENST00000547208   ⟹   ENSP00000449868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,643,360 - 69,699,364 (-)Ensembl
RefSeq Acc Id: ENST00000548658   ⟹   ENSP00000446575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,677,234 - 69,699,335 (-)Ensembl
RefSeq Acc Id: ENST00000551160   ⟹   ENSP00000449377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,684,408 - 69,699,395 (-)Ensembl
RefSeq Acc Id: ENST00000552295   ⟹   ENSP00000447689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,671,573 - 69,694,072 (-)Ensembl
RefSeq Acc Id: ENST00000553096   ⟹   ENSP00000449548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1269,653,819 - 69,699,285 (-)Ensembl
RefSeq Acc Id: NM_001282613   ⟹   NP_001269542
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,699,303 (-)NCBI
HuRef1267,086,742 - 67,142,589 (-)NCBI
CHM1_11270,015,808 - 70,061,607 (-)NCBI
T2T-CHM13v2.01269,632,538 - 69,678,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282614   ⟹   NP_001269543
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,643,508 - 69,699,303 (-)NCBI
HuRef1267,086,742 - 67,142,589 (-)NCBI
CHM1_11270,005,707 - 70,061,607 (-)NCBI
T2T-CHM13v2.01269,622,438 - 69,678,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282615   ⟹   NP_001269544
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,683,239 - 69,699,303 (-)NCBI
HuRef1267,086,742 - 67,142,589 (-)NCBI
CHM1_11270,045,430 - 70,061,607 (-)NCBI
T2T-CHM13v2.01269,662,060 - 69,678,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282616   ⟹   NP_001269545
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,683,239 - 69,699,303 (-)NCBI
HuRef1267,086,742 - 67,142,589 (-)NCBI
CHM1_11270,045,430 - 70,061,607 (-)NCBI
T2T-CHM13v2.01269,662,060 - 69,678,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032735   ⟹   NP_116124
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,699,303 (-)NCBI
GRCh371270,037,334 - 70,093,196 (-)NCBI
Build 361268,333,656 - 68,379,463 (-)NCBI Archive
Celera1269,711,071 - 69,756,899 (-)RGD
HuRef1267,086,742 - 67,142,589 (-)NCBI
CHM1_11270,015,808 - 70,061,607 (-)NCBI
T2T-CHM13v2.01269,632,538 - 69,678,134 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152439   ⟹   NP_689652
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,689,277 (-)NCBI
GRCh371270,037,334 - 70,093,196 (-)NCBI
Build 361268,333,656 - 68,369,323 (-)NCBI Archive
Celera1269,711,071 - 69,756,899 (-)RGD
HuRef1267,086,742 - 67,142,589 (-)NCBI
CHM1_11270,015,808 - 70,051,469 (-)NCBI
T2T-CHM13v2.01269,632,538 - 69,668,108 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104220
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,683,239 - 69,689,277 (-)NCBI
HuRef1267,086,742 - 67,142,589 (-)NCBI
CHM1_11270,045,430 - 70,051,469 (-)NCBI
T2T-CHM13v2.01269,662,060 - 69,668,108 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537961   ⟹   XP_011536263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,697,728 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537962   ⟹   XP_011536264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,689,277 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537963   ⟹   XP_011536265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,697,733 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537965   ⟹   XP_011536267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,676,364 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428376   ⟹   XP_047284332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,699,303 (-)NCBI
RefSeq Acc Id: XM_047428378   ⟹   XP_047284334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,699,303 (-)NCBI
RefSeq Acc Id: XM_047428379   ⟹   XP_047284335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,653,609 - 69,693,810 (-)NCBI
RefSeq Acc Id: XM_047428380   ⟹   XP_047284336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,670,070 - 69,699,303 (-)NCBI
RefSeq Acc Id: XM_047428381   ⟹   XP_047284337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,671,446 - 69,699,303 (-)NCBI
RefSeq Acc Id: XM_047428382   ⟹   XP_047284338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,683,239 - 69,699,303 (-)NCBI
RefSeq Acc Id: XM_047428383   ⟹   XP_047284339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,683,239 - 69,699,303 (-)NCBI
RefSeq Acc Id: XM_054371184   ⟹   XP_054227159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01269,632,538 - 69,683,904 (-)NCBI
RefSeq Acc Id: XM_054371185   ⟹   XP_054227160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01269,632,538 - 69,676,559 (-)NCBI
RefSeq Acc Id: XM_054371186   ⟹   XP_054227161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01269,632,538 - 69,684,535 (-)NCBI
RefSeq Acc Id: XM_054371187   ⟹   XP_054227162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01269,632,538 - 69,668,108 (-)NCBI
RefSeq Acc Id: XM_054371188   ⟹   XP_054227163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01269,632,538 - 69,676,564 (-)NCBI
RefSeq Acc Id: XM_054371189   ⟹   XP_054227164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01269,632,538 - 69,672,641 (-)NCBI
RefSeq Acc Id: XM_054371190   ⟹   XP_054227165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01269,632,538 - 69,655,174 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001269542 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269543 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269544 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269545 (Get FASTA)   NCBI Sequence Viewer  
  NP_116124 (Get FASTA)   NCBI Sequence Viewer  
  NP_689652 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536263 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536264 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536265 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536267 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284332 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284334 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284335 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284336 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284337 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284338 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284339 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227159 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227160 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227161 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227162 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227163 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227164 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227165 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06440 (Get FASTA)   NCBI Sequence Viewer  
  AAM76997 (Get FASTA)   NCBI Sequence Viewer  
  AAR99656 (Get FASTA)   NCBI Sequence Viewer  
  BAC04797 (Get FASTA)   NCBI Sequence Viewer  
  EAW97232 (Get FASTA)   NCBI Sequence Viewer  
  EAW97233 (Get FASTA)   NCBI Sequence Viewer  
  EAW97234 (Get FASTA)   NCBI Sequence Viewer  
  EAW97235 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000266661
  ENSP00000266661.4
  ENSP00000329064
  ENSP00000329064.4
  ENSP00000332413
  ENSP00000332413.5
  ENSP00000433213
  ENSP00000433213.1
  ENSP00000434713.1
  ENSP00000446575.1
  ENSP00000447689.1
  ENSP00000449377
  ENSP00000449377.1
  ENSP00000449548
  ENSP00000449548.1
  ENSP00000449868.1
GenBank Protein Q8N1M1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_116124   ⟸   NM_032735
- Peptide Label: isoform 1
- UniProtKB: Q8NFT9 (UniProtKB/Swiss-Prot),   Q8N356 (UniProtKB/Swiss-Prot),   Q53YQ7 (UniProtKB/Swiss-Prot),   F8VVZ2 (UniProtKB/Swiss-Prot),   B5MDI8 (UniProtKB/Swiss-Prot),   Q9BR80 (UniProtKB/Swiss-Prot),   Q8N1M1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_689652   ⟸   NM_152439
- Peptide Label: isoform 2
- UniProtKB: Q8N1M1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269543   ⟸   NM_001282614
- Peptide Label: isoform 4
- UniProtKB: Q8N1M1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269542   ⟸   NM_001282613
- Peptide Label: isoform 3
- UniProtKB: Q8N1M1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269544   ⟸   NM_001282615
- Peptide Label: isoform 5
- UniProtKB: Q8N1M1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269545   ⟸   NM_001282616
- Peptide Label: isoform 5
- UniProtKB: Q8N1M1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536265   ⟸   XM_011537963
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011536263   ⟸   XM_011537961
- Peptide Label: isoform X1
- UniProtKB: Q8N1M1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536264   ⟸   XM_011537962
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011536267   ⟸   XM_011537965
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000266661   ⟸   ENST00000266661
RefSeq Acc Id: ENSP00000332413   ⟸   ENST00000330891
RefSeq Acc Id: ENSP00000329064   ⟸   ENST00000331471
RefSeq Acc Id: ENSP00000449868   ⟸   ENST00000547208
RefSeq Acc Id: ENSP00000446575   ⟸   ENST00000548658
RefSeq Acc Id: ENSP00000449377   ⟸   ENST00000551160
RefSeq Acc Id: ENSP00000447689   ⟸   ENST00000552295
RefSeq Acc Id: ENSP00000433213   ⟸   ENST00000488961
RefSeq Acc Id: ENSP00000449548   ⟸   ENST00000553096
RefSeq Acc Id: ENSP00000434713   ⟸   ENST00000476098
RefSeq Acc Id: XP_047284334   ⟸   XM_047428378
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047284332   ⟸   XM_047428376
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284335   ⟸   XM_047428379
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047284336   ⟸   XM_047428380
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284337   ⟸   XM_047428381
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047284339   ⟸   XM_047428383
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047284338   ⟸   XM_047428382
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054227161   ⟸   XM_054371186
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227159   ⟸   XM_054371184
- Peptide Label: isoform X8
- UniProtKB: Q9BR80 (UniProtKB/Swiss-Prot),   Q8NFT9 (UniProtKB/Swiss-Prot),   Q8N356 (UniProtKB/Swiss-Prot),   Q8N1M1 (UniProtKB/Swiss-Prot),   Q53YQ7 (UniProtKB/Swiss-Prot),   F8VVZ2 (UniProtKB/Swiss-Prot),   B5MDI8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227163   ⟸   XM_054371188
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227160   ⟸   XM_054371185
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227164   ⟸   XM_054371189
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227162   ⟸   XM_054371187
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227165   ⟸   XM_054371190
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N1M1-F1-model_v2 AlphaFold Q8N1M1 1-668 view protein structure

Promoters
RGD ID:6789716
Promoter ID:HG_KWN:16131
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:NM_152439
Position:
Human AssemblyChrPosition (strand)Source
Build 361268,369,091 - 68,369,591 (-)MPROMDB
RGD ID:7224781
Promoter ID:EPDNEW_H18135
Type:initiation region
Name:BEST3_2
Description:bestrophin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18136  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,689,203 - 69,689,263EPDNEW
RGD ID:7224779
Promoter ID:EPDNEW_H18136
Type:initiation region
Name:BEST3_1
Description:bestrophin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18135  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381269,699,303 - 69,699,363EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17105 AgrOrtholog
COSMIC BEST3 COSMIC
Ensembl Genes ENSG00000127325 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000266661 ENTREZGENE
  ENST00000266661.8 UniProtKB/Swiss-Prot
  ENST00000330891 ENTREZGENE
  ENST00000330891.10 UniProtKB/Swiss-Prot
  ENST00000331471 ENTREZGENE
  ENST00000331471.8 UniProtKB/Swiss-Prot
  ENST00000476098.5 UniProtKB/TrEMBL
  ENST00000488961 ENTREZGENE
  ENST00000488961.5 UniProtKB/Swiss-Prot
  ENST00000547208.5 UniProtKB/TrEMBL
  ENST00000548658.1 UniProtKB/TrEMBL
  ENST00000551160 ENTREZGENE
  ENST00000551160.5 UniProtKB/Swiss-Prot
  ENST00000552295.5 UniProtKB/TrEMBL
  ENST00000553096 ENTREZGENE
  ENST00000553096.5 UniProtKB/Swiss-Prot
GTEx ENSG00000127325 GTEx
HGNC ID HGNC:17105 ENTREZGENE
Human Proteome Map BEST3 Human Proteome Map
InterPro Bestrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bestrophin/UPF0187 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:144453 UniProtKB/Swiss-Prot
NCBI Gene 144453 ENTREZGENE
OMIM 607337 OMIM
PANTHER BESTROPHIN HOMOLOG UniProtKB/TrEMBL
  BESTROPHIN-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10736 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bestrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162377503 PharmGKB
UniProt B5MDI8 ENTREZGENE
  BEST3_HUMAN UniProtKB/Swiss-Prot
  E9PNM2_HUMAN UniProtKB/TrEMBL
  F8VR37_HUMAN UniProtKB/TrEMBL
  F8VVX2_HUMAN UniProtKB/TrEMBL
  F8VVZ2 ENTREZGENE
  F8VZR0_HUMAN UniProtKB/TrEMBL
  Q53YQ7 ENTREZGENE
  Q8N1M1 ENTREZGENE
  Q8N356 ENTREZGENE
  Q8NFT9 ENTREZGENE
  Q9BR80 ENTREZGENE
UniProt Secondary B5MDI8 UniProtKB/Swiss-Prot
  F8VVZ2 UniProtKB/Swiss-Prot
  Q53YQ7 UniProtKB/Swiss-Prot
  Q8N356 UniProtKB/Swiss-Prot
  Q8NFT9 UniProtKB/Swiss-Prot
  Q9BR80 UniProtKB/Swiss-Prot