OR8B8 (olfactory receptor family 8 subfamily B member 8) - Rat Genome Database
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Gene: OR8B8 (olfactory receptor family 8 subfamily B member 8) Homo sapiens
Analyze
Symbol: OR8B8
Name: olfactory receptor family 8 subfamily B member 8
RGD ID: 1347370
HGNC Page HGNC
Description: Predicted to have 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 localize to plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: olfactory receptor 8B8; olfactory receptor OR11-316; olfactory receptor TPCR85; olfactory receptor, family 8, subfamily B, member 8; olfactory-like receptor JCG8; TPCR85
RGD Orthologs
Mouse
Rat
Dog
Pig
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
GRCh38.p13 Ensembl11124,437,445 - 124,445,696 (-)EnsemblGRCh38hg38GRCh38
GRCh3811124,437,445 - 124,445,696 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711124,307,341 - 124,315,592 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611123,815,256 - 123,816,191 (-)NCBINCBI36hg18NCBI36
Build 3411123,815,255 - 123,816,191NCBI
Celera11121,470,034 - 121,470,969 (-)NCBI
Cytogenetic Map11q24.2NCBI
HuRef11120,252,087 - 120,253,022 (-)NCBIHuRef
CHM1_111124,196,180 - 124,197,115 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11705801   PMID:12213199   PMID:12477932   PMID:14983052   PMID:21873635  


Genomics

Comparative Map Data
OR8B8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11124,437,445 - 124,445,696 (-)EnsemblGRCh38hg38GRCh38
GRCh3811124,437,445 - 124,445,696 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711124,307,341 - 124,315,592 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611123,815,256 - 123,816,191 (-)NCBINCBI36hg18NCBI36
Build 3411123,815,255 - 123,816,191NCBI
Celera11121,470,034 - 121,470,969 (-)NCBI
Cytogenetic Map11q24.2NCBI
HuRef11120,252,087 - 120,253,022 (-)NCBIHuRef
CHM1_111124,196,180 - 124,197,115 (-)NCBICHM1_1
Olfr145
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39937,801,863 - 37,809,634 (+)NCBIGRCm39mm39
GRCm39 Ensembl937,808,020 - 37,814,815 (+)Ensembl
GRCm38937,890,567 - 37,898,338 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl937,896,724 - 37,903,519 (+)EnsemblGRCm38mm10GRCm38
MGSCv37937,704,991 - 37,705,923 (+)NCBIGRCm37mm9NCBIm37
MGSCv36937,647,077 - 37,648,009 (+)NCBImm8
Celera935,119,616 - 35,120,548 (+)NCBICelera
Cytogenetic Map9A4NCBI
Olr1201
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2837,693,578 - 37,694,510 (+)NCBI
Rnor_6.0 Ensembl840,383,918 - 40,384,966 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0840,383,997 - 40,384,929 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0840,382,358 - 40,383,290 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4839,286,477 - 39,287,409 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1839,295,242 - 39,296,175 (+)NCBI
Celera836,763,005 - 36,763,937 (-)NCBICelera
Cytogenetic Map8q21NCBI
OR8B8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.159,934,347 - 9,935,294 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha59,979,384 - 9,980,331 (+)NCBI
ROS_Cfam_1.059,874,260 - 9,875,207 (+)NCBI
UMICH_Zoey_3.159,946,003 - 9,946,950 (+)NCBI
UNSW_CanFamBas_1.059,916,680 - 9,917,627 (+)NCBI
UU_Cfam_GSD_1.059,953,486 - 9,954,433 (+)NCBI
LOC100520926
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1951,642,422 - 51,643,354 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2957,156,675 - 57,157,607 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Position Markers
OR8B8__5767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,309,861 - 124,310,692UniSTSGRCh37
Build 3611123,815,071 - 123,815,902RGDNCBI36
Celera11121,469,849 - 121,470,680RGD
HuRef11120,251,902 - 120,252,733UniSTS
UniSTS:483956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,310,046 - 124,310,981UniSTSGRCh37
Celera11121,470,034 - 121,470,969UniSTS
HuRef11120,252,087 - 120,253,022UniSTS
UniSTS:494434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,310,022 - 124,311,054UniSTSGRCh37
Celera11121,470,010 - 121,471,042UniSTS
HuRef11120,252,063 - 120,253,095UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:144
Count of miRNA genes:140
Interacting mature miRNAs:142
Transcripts:ENST00000328064
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

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
Low 4 1
Below cutoff 61 201 55 18 64 14 86 52 243 6 134 47 4 23 57 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000328064   ⟹   ENSP00000330280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,440,126 - 124,441,158 (-)Ensembl
RefSeq Acc Id: ENST00000642064   ⟹   ENSP00000493014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,437,445 - 124,445,696 (-)Ensembl
RefSeq Acc Id: NM_012378   ⟹   NP_036510
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,437,445 - 124,445,696 (-)NCBI
GRCh3711124,310,046 - 124,310,981 (-)RGD
Build 3611123,815,256 - 123,816,191 (-)NCBI Archive
Celera11121,470,034 - 121,470,969 (-)RGD
HuRef11120,252,087 - 120,253,022 (-)ENTREZGENE
CHM1_111124,196,180 - 124,197,115 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036510   ⟸   NM_012378
- UniProtKB: Q15620 (UniProtKB/Swiss-Prot),   A0A126GW73 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000493014   ⟸   ENST00000642064
RefSeq Acc Id: ENSP00000330280   ⟸   ENST00000328064
Protein Domains
G_PROTEIN_RECEP_F1_2


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_012378.1(OR8B8):c.221C>T (p.Ser74Phe) single nucleotide variant Malignant melanoma [RCV000069230] Chr11:124440865 [GRCh38]
Chr11:124310761 [GRCh37]
Chr11:123815971 [NCBI36]
Chr11:11q24.2
not provided
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 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 11q23.3-25(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 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(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [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 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 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(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
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
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 11q24.2(chr11:124296334-124560100)x3 copy number gain not provided [RCV000683322] Chr11:124296334..124560100 [GRCh37]
Chr11:11q24.2
uncertain significance
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
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
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
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(chr11:117830263-134938470)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
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
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8477 AgrOrtholog
COSMIC OR8B8 COSMIC
Ensembl Genes ENSG00000197125 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000330280 UniProtKB/Swiss-Prot
  ENSP00000493014 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328064 UniProtKB/Swiss-Prot
  ENST00000642064 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000197125 GTEx
HGNC ID HGNC:8477 ENTREZGENE
Human Proteome Map OR8B8 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:26493 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 26493 ENTREZGENE
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32756 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
UniProt A0A126GVL3_HUMAN UniProtKB/TrEMBL
  A0A126GW73 ENTREZGENE, UniProtKB/TrEMBL
  OR8B8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A1L446 UniProtKB/Swiss-Prot
  Q96RC8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR8B8  olfactory receptor family 8 subfamily B member 8    olfactory receptor, family 8, subfamily B, member 8  Symbol and/or name change 5135510 APPROVED
2011-09-01 OR8B8  olfactory receptor, family 8, subfamily B, member 8  OR8B8  olfactory receptor, family 8, subfamily B, member 8  Symbol and/or name change 5135510 APPROVED