OR8B3 (olfactory receptor family 8 subfamily B member 3) - Rat Genome Database

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Gene: OR8B3 (olfactory receptor family 8 subfamily B member 3) Homo sapiens
Analyze
Symbol: OR8B3
Name: olfactory receptor family 8 subfamily B member 3
RGD ID: 1354454
HGNC Page HGNC:8472
Description: Predicted to enable odorant binding activity and olfactory receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and sensory perception of smell. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: olfactory receptor 8B3; olfactory receptor OR11-311; olfactory receptor, family 8, subfamily B, member 3; OR11-311
RGD Orthologs
Mouse
Bonobo
Dog
Pig
Alliance Genes
More Info more info ...
Related Pseudogenes: AP000916.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811124,395,534 - 124,409,807 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11124,395,534 - 124,399,024 (-)EnsemblGRCh38hg38GRCh38
GRCh3711124,265,430 - 124,268,920 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611123,771,516 - 123,772,457 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411123,771,515 - 123,772,457NCBI
Celera11121,426,310 - 121,427,251 (-)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11120,208,337 - 120,209,278 (-)NCBIHuRef
CHM1_111124,152,440 - 124,153,381 (-)NCBICHM1_1
T2T-CHM13v2.011124,424,199 - 124,438,480 (-)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

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:14983052   PMID:21873635  


Genomics

Comparative Map Data
OR8B3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811124,395,534 - 124,409,807 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11124,395,534 - 124,399,024 (-)EnsemblGRCh38hg38GRCh38
GRCh3711124,265,430 - 124,268,920 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611123,771,516 - 123,772,457 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411123,771,515 - 123,772,457NCBI
Celera11121,426,310 - 121,427,251 (-)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11120,208,337 - 120,209,278 (-)NCBIHuRef
CHM1_111124,152,440 - 124,153,381 (-)NCBICHM1_1
T2T-CHM13v2.011124,424,199 - 124,438,480 (-)NCBIT2T-CHM13v2.0
Or8b3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39938,313,007 - 38,315,125 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl938,312,994 - 38,319,293 (+)EnsemblGRCm39 Ensembl
GRCm38938,401,711 - 38,403,829 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl938,401,698 - 38,407,997 (+)EnsemblGRCm38mm10GRCm38
MGSCv37938,209,296 - 38,211,414 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36938,153,447 - 38,154,400 (+)NCBIMGSCv36mm8
Celera935,637,766 - 35,639,885 (+)NCBICelera
Cytogenetic Map9A5.1NCBI
cM Map920.84NCBI
LOC112441186
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29125,088,957 - 125,105,101 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111126,193,606 - 126,209,978 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011119,223,013 - 119,224,485 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111123,138,946 - 123,149,498 (-)NCBIpanpan1.1PanPan1.1panPan2
OR8B3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.159,992,796 - 9,993,878 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl59,992,874 - 9,993,818 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha510,041,443 - 10,042,468 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.059,928,518 - 9,936,784 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl59,935,837 - 9,936,781 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1510,000,808 - 10,009,065 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.059,970,849 - 9,978,957 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0510,008,201 - 10,016,436 (+)NCBIUU_Cfam_GSD_1.0
LOC100519677
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1951,585,080 - 51,586,048 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2957,008,258 - 57,009,199 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in OR8B3
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25		 pathogenic
NM_001005467.1(OR8B3):c.621C>T (p.Ile207=) single nucleotide variant Malignant melanoma [RCV000062165] Chr11:124396731 [GRCh38]
Chr11:124266627 [GRCh37]
Chr11:123771837 [NCBI36]
Chr11:11q24.2		 not provided
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1 copy number loss See cases [RCV000134405] Chr11:120426093..124771213 [GRCh38]
Chr11:120296802..124641109 [GRCh37]
Chr11:119802012..124146319 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic|likely benign
GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3 copy number gain See cases [RCV000141175] Chr11:123543649..124802201 [GRCh38]
Chr11:123414357..124672097 [GRCh37]
Chr11:122919567..124177307 [NCBI36]
Chr11:11q24.1-24.2		 uncertain significance
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1 copy number loss See cases [RCV000448684] Chr11:124254553..125315622 [GRCh37]
Chr11:11q24.2		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001005467.2(OR8B3):c.470C>T (p.Thr157Met) single nucleotide variant Inborn genetic diseases [RCV003264471] Chr11:124396882 [GRCh38]
Chr11:124266778 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.802G>C (p.Glu268Gln) single nucleotide variant Inborn genetic diseases [RCV003301113] Chr11:124396550 [GRCh38]
Chr11:124266446 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001005467.2(OR8B3):c.895G>C (p.Ala299Pro) single nucleotide variant Inborn genetic diseases [RCV003293140] Chr11:124396457 [GRCh38]
Chr11:124266353 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25		 pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NC_000011.9:g.(?_123504851)_(126163012_?)dup duplication Holoprosencephaly 11 [RCV001871151] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NC_000011.9:g.(?_123504851)_(126163012_?)del deletion Holoprosencephaly 11 [RCV003119757]|not provided [RCV003119756] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) copy number loss 11q partial monosomy syndrome [RCV003236728] Chr11:120531028..134257553 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
NM_001005467.2(OR8B3):c.815T>G (p.Val272Gly) single nucleotide variant Inborn genetic diseases [RCV002729561] Chr11:124396537 [GRCh38]
Chr11:124266433 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.818C>T (p.Ser273Phe) single nucleotide variant Inborn genetic diseases [RCV002751792] Chr11:124396534 [GRCh38]
Chr11:124266430 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.607G>A (p.Val203Met) single nucleotide variant Inborn genetic diseases [RCV002782736] Chr11:124396745 [GRCh38]
Chr11:124266641 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.394T>C (p.Tyr132His) single nucleotide variant Inborn genetic diseases [RCV002743806] Chr11:124396958 [GRCh38]
Chr11:124266854 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.623T>A (p.Met208Lys) single nucleotide variant Inborn genetic diseases [RCV002936392] Chr11:124396729 [GRCh38]
Chr11:124266625 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.828C>G (p.Phe276Leu) single nucleotide variant Inborn genetic diseases [RCV002808522] Chr11:124396524 [GRCh38]
Chr11:124266420 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.299A>G (p.Gln100Arg) single nucleotide variant Inborn genetic diseases [RCV002679728] Chr11:124397053 [GRCh38]
Chr11:124266949 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.488T>C (p.Met163Thr) single nucleotide variant Inborn genetic diseases [RCV003260655] Chr11:124396864 [GRCh38]
Chr11:124266760 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.289T>C (p.Cys97Arg) single nucleotide variant Inborn genetic diseases [RCV003264908] Chr11:124397063 [GRCh38]
Chr11:124266959 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001005467.2(OR8B3):c.710C>T (p.Ala237Val) single nucleotide variant Inborn genetic diseases [RCV003383918] Chr11:124396642 [GRCh38]
Chr11:124266538 [GRCh37]
Chr11:11q24.2		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1 copy number loss not specified [RCV003986947] Chr11:123523103..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1 copy number loss not specified [RCV003986915] Chr11:121183636..127620828 [GRCh37]
Chr11:11q23.3-24.2		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1 copy number loss not specified [RCV003986923] Chr11:121423232..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:38
Count of miRNA genes:36
Interacting mature miRNAs:38
Transcripts:ENST00000354597
Prediction methods: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.


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

reproductive system
High
Medium
Low 4
Below cutoff 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000354597   ⟹   ENSP00000346611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11124,396,410 - 124,397,351 (-)Ensembl
RefSeq Acc Id: ENST00000641139   ⟹   ENSP00000493120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11124,395,534 - 124,399,024 (-)Ensembl
RefSeq Acc Id: NM_001005467   ⟹   NP_001005467
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,395,534 - 124,399,024 (-)NCBI
GRCh3711124,266,306 - 124,267,247 (-)RGD
Build 3611123,771,516 - 123,772,457 (-)NCBI Archive
Celera11121,426,310 - 121,427,251 (-)RGD
HuRef11120,208,337 - 120,209,278 (-)ENTREZGENE
CHM1_111124,152,440 - 124,153,381 (-)NCBI
T2T-CHM13v2.011124,424,199 - 124,427,689 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017716   ⟹   XP_016873205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,395,534 - 124,409,807 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054368743   ⟹   XP_054224718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,424,199 - 124,438,480 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001005467   ⟸   NM_001005467
- UniProtKB: Q6IFQ8 (UniProtKB/Swiss-Prot),   Q8NGH1 (UniProtKB/Swiss-Prot),   Q8NGG8 (UniProtKB/Swiss-Prot),   A0A126GWT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873205   ⟸   XM_017017716
- Peptide Label: isoform X1
- UniProtKB: Q6IFQ8 (UniProtKB/Swiss-Prot),   Q8NGH1 (UniProtKB/Swiss-Prot),   Q8NGG8 (UniProtKB/Swiss-Prot),   A0A126GWT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000493120   ⟸   ENST00000641139
RefSeq Acc Id: ENSP00000346611   ⟸   ENST00000354597
RefSeq Acc Id: XP_054224718   ⟸   XM_054368743
- Peptide Label: isoform X1
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NGG8-F1-model_v2 AlphaFold Q8NGG8 1-313 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8472 AgrOrtholog
COSMIC OR8B3 COSMIC
Ensembl Genes ENSG00000284609 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000641139 ENTREZGENE
  ENST00000641139.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000284609 GTEx
HGNC ID HGNC:8472 ENTREZGENE
Human Proteome Map OR8B3 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfact_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:390271 UniProtKB/Swiss-Prot
NCBI Gene 390271 ENTREZGENE
PANTHER OLFACTORY RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORY RECEPTOR 8B2-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32751 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A126GWT8 ENTREZGENE, UniProtKB/TrEMBL
  OR8B3_HUMAN UniProtKB/Swiss-Prot
  Q6IFQ8 ENTREZGENE
  Q8NGG8 ENTREZGENE
  Q8NGH1 ENTREZGENE
UniProt Secondary Q6IFQ8 UniProtKB/Swiss-Prot
  Q8NGH1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR8B3  olfactory receptor family 8 subfamily B member 3  OR8B3  olfactory receptor, family 8, subfamily B, member 3  Symbol and/or name change 5135510 APPROVED