OR2T11 (olfactory receptor family 2 subfamily T member 11) - Rat Genome Database

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Gene: OR2T11 (olfactory receptor family 2 subfamily T member 11) Homo sapiens
Analyze
Symbol: OR2T11
Name: olfactory receptor family 2 subfamily T member 11
RGD ID: 1349543
HGNC Page HGNC:19574
Description: Predicted to enable olfactory receptor activity. Predicted to be involved in detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: olfactory receptor 2T11; olfactory receptor family 2 subfamily T member 11 (gene/pseudogene); olfactory receptor OR1-65; olfactory receptor, family 2, subfamily T, member 11; OR2T11Q
RGD Orthologs
Bonobo
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,623,557 - 248,635,091 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,623,557 - 248,635,091 (-)EnsemblGRCh38hg38GRCh38
GRCh371248,786,858 - 248,798,392 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,856,102 - 246,857,052 (-)NCBINCBI36Build 36hg18NCBI36
Build 341245,115,519 - 245,116,470NCBI
Celera1222,088,603 - 222,089,553 (-)NCBICelera
Cytogenetic Map1q44NCBI
HuRef1219,164,753 - 219,165,703 (-)NCBIHuRef
CHM1_11250,061,909 - 250,062,859 (-)NCBICHM1_1
T2T-CHM13v2.01248,062,202 - 248,073,708 (-)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
membrane  (IEA)
plasma membrane  (IBA,IEA)

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:12477932   PMID:14983052   PMID:16939646   PMID:21873635   PMID:22908908   PMID:30021884   PMID:32126975  


Genomics

Comparative Map Data
OR2T11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,623,557 - 248,635,091 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,623,557 - 248,635,091 (-)EnsemblGRCh38hg38GRCh38
GRCh371248,786,858 - 248,798,392 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,856,102 - 246,857,052 (-)NCBINCBI36Build 36hg18NCBI36
Build 341245,115,519 - 245,116,470NCBI
Celera1222,088,603 - 222,089,553 (-)NCBICelera
Cytogenetic Map1q44NCBI
HuRef1219,164,753 - 219,165,703 (-)NCBIHuRef
CHM1_11250,061,909 - 250,062,859 (-)NCBICHM1_1
T2T-CHM13v2.01248,062,202 - 248,073,708 (-)NCBIT2T-CHM13v2.0
LOC100972584
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21380,913 - 392,469 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11651,346 - 662,903 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01224,299,249 - 224,300,308 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11229,611,923 - 229,612,982 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1229,611,979 - 229,612,929 (+)Ensemblpanpan1.1panPan2
OR2T11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1142,695,311 - 2,696,273 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl142,695,311 - 2,696,273 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha142,345,513 - 2,346,475 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0142,428,100 - 2,429,062 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl142,428,100 - 2,429,062 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1142,573,331 - 2,574,293 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0142,372,315 - 2,373,277 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0142,170,392 - 2,171,354 (-)NCBIUU_Cfam_GSD_1.0
LOC110259736
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1253,142,040 - 53,142,999 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

Variants

.
Variants in OR2T11
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3 copy number gain See cases [RCV000053504] Chr1:242828731..248891309 [GRCh38]
Chr1:242992033..249185508 [GRCh37]
Chr1:241058656..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|See cases [RCV000053506] Chr1:243055227..248918469 [GRCh38]
Chr1:243218529..249212668 [GRCh37]
Chr1:241285152..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:245584222-248918610)x1 copy number loss See cases [RCV000054067] Chr1:245584222..248918610 [GRCh38]
Chr1:245747524..249212809 [GRCh37]
Chr1:243814147..247179432 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:246386899-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054068]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054068]|See cases [RCV000054068] Chr1:246386899..248918469 [GRCh38]
Chr1:246550201..249212668 [GRCh37]
Chr1:244616824..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:247092432-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054069]|See cases [RCV000054069] Chr1:247092432..248918469 [GRCh38]
Chr1:247255734..249212668 [GRCh37]
Chr1:245322357..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 copy number loss See cases [RCV000054028] Chr1:241757249..248891309 [GRCh38]
Chr1:241920551..249185508 [GRCh37]
Chr1:239987174..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] Chr1:242076868..248918469 [GRCh38]
Chr1:242240170..249212668 [GRCh37]
Chr1:240306793..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:243786629-248918469)x1 copy number loss See cases [RCV000054061] Chr1:243786629..248918469 [GRCh38]
Chr1:243949931..249212668 [GRCh37]
Chr1:242016554..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:244498870-248918610)x1 copy number loss See cases [RCV000054064] Chr1:244498870..248918610 [GRCh38]
Chr1:244662172..249212809 [GRCh37]
Chr1:242728795..247179432 [NCBI36]
Chr1:1q44
pathogenic
NM_001001964.1(OR2T11):c.483G>A (p.Met161Ile) single nucleotide variant Malignant melanoma [RCV000064680] Chr1:248626646 [GRCh38]
Chr1:248789947 [GRCh37]
Chr1:246856570 [NCBI36]
Chr1:1q44
not provided
GRCh38/hg38 1q44(chr1:245312815-248918469)x3 copy number gain See cases [RCV000133864] Chr1:245312815..248918469 [GRCh38]
Chr1:245476117..249212668 [GRCh37]
Chr1:243542740..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q44(chr1:244582123-248918469)x1 copy number loss See cases [RCV000135611] Chr1:244582123..248918469 [GRCh38]
Chr1:244745425..249212668 [GRCh37]
Chr1:242812048..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:248592944-248628926)x1 copy number loss See cases [RCV000136264] Chr1:248592944..248628926 [GRCh38]
Chr1:248756245..248792227 [GRCh37]
Chr1:246822868..246858850 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q44(chr1:248564628-248628926)x1 copy number loss See cases [RCV000136452] Chr1:248564628..248628926 [GRCh38]
Chr1:248727929..248792227 [GRCh37]
Chr1:246794552..246858850 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4 copy number gain See cases [RCV000137155] Chr1:242932576..248864636 [GRCh38]
Chr1:243095878..249158835 [GRCh37]
Chr1:241162501..247125458 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 copy number loss See cases [RCV000139889] Chr1:242045279..248930485 [GRCh38]
Chr1:242208581..249224684 [GRCh37]
Chr1:240275204..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:248250956-248787141)x3 copy number gain See cases [RCV000141214] Chr1:248250956..248787141 [GRCh38]
Chr1:248414258..249081340 [GRCh37]
Chr1:246480881..247047963 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q44(chr1:248400498-248698574)x3 copy number gain See cases [RCV000142901] Chr1:248400498..248698574 [GRCh38]
Chr1:248563799..248861875 [GRCh37]
Chr1:246630422..246928498 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 copy number gain See cases [RCV000511337] Chr1:242324398..249224684 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1 copy number loss See cases [RCV000240522] Chr1:243103401..249119318 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:245341153-249212429) copy number loss not provided [RCV000767543] Chr1:245341153..249212429 [GRCh37]
Chr1:1q44
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 copy number gain See cases [RCV000448507] Chr1:242656460..249213000 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
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 1q44(chr1:244197791-249224684)x4 copy number gain See cases [RCV000510563] Chr1:244197791..249224684 [GRCh37]
Chr1:1q44
likely pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q44(chr1:248572727-249224684)x3 copy number gain See cases [RCV000511097] Chr1:248572727..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:246753355-249224684)x3 copy number gain See cases [RCV000512337] Chr1:246753355..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:244797639-249224684)x1 copy number loss not provided [RCV000684725] Chr1:244797639..249224684 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q44(chr1:247846257-249224684)x1 copy number loss not provided [RCV000684732] Chr1:247846257..249224684 [GRCh37]
Chr1:1q44
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 1q44(chr1:247828797-248795852)x3 copy number gain not provided [RCV000736957] Chr1:247828797..248795852 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248601320-248907678)x3 copy number gain not provided [RCV000736963] Chr1:248601320..248907678 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248698981-248885217)x3 copy number gain not provided [RCV000736967] Chr1:248698981..248885217 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248699653-248808572)x3 copy number gain not provided [RCV000736968] Chr1:248699653..248808572 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248732689-248795852)x3 copy number gain not provided [RCV000736970] Chr1:248732689..248795852 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248733884-248795110)x0 copy number loss not provided [RCV000736971] Chr1:248733884..248795110 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248739516-248808428)x0 copy number loss not provided [RCV000736972] Chr1:248739516..248808428 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248740961-248839164)x1 copy number loss not provided [RCV000736973] Chr1:248740961..248839164 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q44(chr1:248071583-248843314)x3 copy number gain not provided [RCV000749443] Chr1:248071583..248843314 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248509182-248847828)x3 copy number gain not provided [RCV000749454] Chr1:248509182..248847828 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248509182-248862517)x3 copy number gain not provided [RCV000749455] Chr1:248509182..248862517 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248509182-248900100)x3 copy number gain not provided [RCV000749456] Chr1:248509182..248900100 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248509495-249062395)x3 copy number gain not provided [RCV000749457] Chr1:248509495..249062395 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248753183-249142218)x1 copy number loss not provided [RCV001005217] Chr1:248753183..249142218 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.320C>T (p.Ser107Phe) single nucleotide variant Inborn genetic diseases [RCV003243583] Chr1:248626809 [GRCh38]
Chr1:248790110 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:246565044-249224684)x1 copy number loss not provided [RCV000848153] Chr1:246565044..249224684 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q44(chr1:244379481-249224684)x1 copy number loss not provided [RCV000845861] Chr1:244379481..249224684 [GRCh37]
Chr1:1q44
pathogenic
NM_001001964.2(OR2T11):c.154C>A (p.Leu52Ile) single nucleotide variant Inborn genetic diseases [RCV003240452] Chr1:248626975 [GRCh38]
Chr1:248790276 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.320_321del (p.Gly106_Ser107insTer) deletion not provided [RCV000955902] Chr1:248626808..248626809 [GRCh38]
Chr1:248790109..248790110 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3 copy number gain not provided [RCV002472628] Chr1:243258050..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q44(chr1:246853199-249181899)x1 copy number loss not provided [RCV001259601] Chr1:246853199..249181899 [GRCh37]
Chr1:1q44
likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q44(chr1:246820858-249213969)x3 copy number gain not provided [RCV001795835] Chr1:246820858..249213969 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:248049805-248844899)x1 copy number loss not provided [RCV001832879] Chr1:248049805..248844899 [GRCh37]
Chr1:1q44
likely benign
GRCh37/hg19 1q44(chr1:246850401-249205263)x3 copy number gain See cases [RCV002292210] Chr1:246850401..249205263 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
NM_001001964.2(OR2T11):c.391G>T (p.Val131Phe) single nucleotide variant Inborn genetic diseases [RCV002751904] Chr1:248626738 [GRCh38]
Chr1:248790039 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.890C>T (p.Ala297Val) single nucleotide variant Inborn genetic diseases [RCV002816892] Chr1:248626239 [GRCh38]
Chr1:248789540 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.56A>G (p.Glu19Gly) single nucleotide variant Inborn genetic diseases [RCV002993041] Chr1:248627073 [GRCh38]
Chr1:248790374 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
Single allele deletion Developmental and epileptic encephalopathy, 54 [RCV002481171] Chr1:242045197..249212668 [GRCh37]
Chr1:1q43-44
likely pathogenic
NM_001001964.2(OR2T11):c.152G>A (p.Arg51His) single nucleotide variant Inborn genetic diseases [RCV002981483] Chr1:248626977 [GRCh38]
Chr1:248790278 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.115A>G (p.Asn39Asp) single nucleotide variant Inborn genetic diseases [RCV002738462] Chr1:248627014 [GRCh38]
Chr1:248790315 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.239C>A (p.Ala80Glu) single nucleotide variant Inborn genetic diseases [RCV002691433] Chr1:248626890 [GRCh38]
Chr1:248790191 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.215G>A (p.Cys72Tyr) single nucleotide variant Inborn genetic diseases [RCV002787410] Chr1:248626914 [GRCh38]
Chr1:248790215 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.823T>G (p.Tyr275Asp) single nucleotide variant Inborn genetic diseases [RCV003004905] Chr1:248626306 [GRCh38]
Chr1:248789607 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.836C>T (p.Thr279Met) single nucleotide variant Inborn genetic diseases [RCV002763670] Chr1:248626293 [GRCh38]
Chr1:248789594 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.596G>A (p.Cys199Tyr) single nucleotide variant Inborn genetic diseases [RCV003003708] Chr1:248626533 [GRCh38]
Chr1:248789834 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.691C>T (p.Arg231Cys) single nucleotide variant Inborn genetic diseases [RCV002961370] Chr1:248626438 [GRCh38]
Chr1:248789739 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:245704069-249212562)x1 copy number loss not provided [RCV003222664] Chr1:245704069..249212562 [GRCh37]
Chr1:1q44
pathogenic
NM_001001964.2(OR2T11):c.95T>C (p.Phe32Ser) single nucleotide variant Inborn genetic diseases [RCV003176139] Chr1:248627034 [GRCh38]
Chr1:248790335 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.51C>G (p.Asn17Lys) single nucleotide variant Inborn genetic diseases [RCV003203666] Chr1:248627078 [GRCh38]
Chr1:248790379 [GRCh37]
Chr1:1q44
uncertain significance
NM_001001964.2(OR2T11):c.149C>G (p.Ser50Cys) single nucleotide variant Inborn genetic diseases [RCV003310029] Chr1:248626980 [GRCh38]
Chr1:248790281 [GRCh37]
Chr1:1q44
uncertain significance
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327711] Chr1:243221458..248919110 [GRCh38]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44
pathogenic
NM_001001964.2(OR2T11):c.769G>T (p.Val257Leu) single nucleotide variant Inborn genetic diseases [RCV003353540] Chr1:248626360 [GRCh38]
Chr1:248789661 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:246983973-249224684)x1 copy number loss not provided [RCV003484177] Chr1:246983973..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44
pathogenic
NM_001001964.2(OR2T11):c.259_260dup (p.Ile88fs) duplication not provided [RCV003417172] Chr1:248626868..248626869 [GRCh38]
Chr1:248790169..248790170 [GRCh37]
Chr1:1q44
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:283
Count of miRNA genes:273
Interacting mature miRNAs:280
Transcripts:ENST00000330803
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
High
Medium
Low 1 1 29 1 1 23 1 1
Below cutoff 69 52 31 14 283 6 242 43 94 33 301 23 8 14 118

Sequence


RefSeq Acc Id: ENST00000625105   ⟹   ENSP00000485455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,626,119 - 248,627,190 (-)Ensembl
RefSeq Acc Id: ENST00000641193   ⟹   ENSP00000492951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,623,557 - 248,635,091 (-)Ensembl
RefSeq Acc Id: NM_001001964   ⟹   NP_001001964
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,623,557 - 248,635,091 (-)NCBI
GRCh371248,789,479 - 248,790,429 (-)RGD
Build 361246,856,102 - 246,857,052 (-)NCBI Archive
Celera1222,088,603 - 222,089,553 (-)RGD
HuRef1219,164,753 - 219,165,703 (-)RGD
CHM1_11250,061,909 - 250,062,859 (-)NCBI
T2T-CHM13v2.01248,062,202 - 248,073,708 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001001964   ⟸   NM_001001964
- UniProtKB: B9EIN4 (UniProtKB/Swiss-Prot),   Q6IEY6 (UniProtKB/Swiss-Prot),   Q8NH01 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000485455   ⟸   ENST00000625105
RefSeq Acc Id: ENSP00000492951   ⟸   ENST00000641193

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NH01-F1-model_v2 AlphaFold Q8NH01 1-316 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19574 AgrOrtholog
COSMIC OR2T11 COSMIC
Ensembl Genes ENSG00000279301 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000641193 ENTREZGENE
  ENST00000641193.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000279301 GTEx
HGNC ID HGNC:19574 ENTREZGENE
Human Proteome Map OR2T11 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
  Olfact_rcpt UniProtKB/Swiss-Prot
KEGG Report hsa:127077 UniProtKB/Swiss-Prot
NCBI Gene 127077 ENTREZGENE
PANTHER OLFACTORY RECEPTOR UniProtKB/Swiss-Prot
  OLFACTORY RECEPTOR 2T11 UniProtKB/Swiss-Prot
Pfam 7tm_4 UniProtKB/Swiss-Prot
PharmGKB PA134948800 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot
  OLFACTORYR UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt B9EIN4 ENTREZGENE
  O2T11_HUMAN UniProtKB/Swiss-Prot
  Q6IEY6 ENTREZGENE
  Q8NH01 ENTREZGENE
UniProt Secondary B9EIN4 UniProtKB/Swiss-Prot
  Q6IEY6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 OR2T11  olfactory receptor family 2 subfamily T member 11  OR2T11  olfactory receptor family 2 subfamily T member 11 (gene/pseudogene)  Symbol and/or name change 19259463 PROVISIONAL
2015-12-15 OR2T11  olfactory receptor family 2 subfamily T member 11 (gene/pseudogene)  OR2T11  olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)  Symbol and/or name change 5135510 APPROVED
2014-12-30 OR2T11  olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)  OR2T11  olfactory receptor, family 2, subfamily T, member 11  Symbol and/or name change 5135510 APPROVED