OR2T4 (olfactory receptor family 2 subfamily T member 4) - Rat Genome Database
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Gene: OR2T4 (olfactory receptor family 2 subfamily T member 4) Homo sapiens
Analyze
Symbol: OR2T4
Name: olfactory receptor family 2 subfamily T member 4
RGD ID: 1351833
HGNC Page HGNC
Description: Predicted to have G protein-coupled receptor activity and olfactory receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to localize to plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: olfactory receptor 2T4; olfactory receptor OR1-60; olfactory receptor, family 2, subfamily T, member 4; OR1-60; OR2T4Q
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 Ensembl1248,361,581 - 248,362,627 (+)EnsemblGRCh38hg38GRCh38
GRCh381248,361,665 - 248,362,627 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371248,524,883 - 248,525,929 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,591,506 - 246,592,552 (+)NCBINCBI36hg18NCBI36
Build 341244,850,923 - 244,851,970NCBI
Celera1221,809,401 - 221,810,446 (+)NCBI
Cytogenetic Map1q44NCBI
HuRef1218,908,351 - 218,909,396 (+)NCBIHuRef
CHM1_11249,797,082 - 249,798,128 (+)NCBICHM1_1
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

Molecular Function

References

Additional References at PubMed
PMID:14983052   PMID:21873635  


Genomics

Comparative Map Data
OR2T4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1248,361,581 - 248,362,627 (+)EnsemblGRCh38hg38GRCh38
GRCh381248,361,665 - 248,362,627 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371248,524,883 - 248,525,929 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,591,506 - 246,592,552 (+)NCBINCBI36hg18NCBI36
Build 341244,850,923 - 244,851,970NCBI
Celera1221,809,401 - 221,810,446 (+)NCBI
Cytogenetic Map1q44NCBI
HuRef1218,908,351 - 218,909,396 (+)NCBIHuRef
CHM1_11249,797,082 - 249,798,128 (+)NCBICHM1_1
Olfr325
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391158,471,663 - 58,472,703 (+)NCBIGRCm39mm39
GRCm381158,580,837 - 58,581,877 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1158,577,730 - 58,582,365 (+)EnsemblGRCm38mm10GRCm38
MGSCv371158,394,339 - 58,395,379 (+)NCBIGRCm37mm9NCBIm37
MGSCv361158,397,059 - 58,398,021 (+)NCBImm8
Celera1163,326,288 - 63,327,328 (+)NCBICelera
Cytogenetic Map11B1.3NCBI
Olr1423
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01044,122,016 - 44,122,978 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1044,122,016 - 44,122,978 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01043,927,859 - 43,928,821 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41044,350,458 - 44,351,420 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11044,364,080 - 44,365,043 (-)NCBI
Celera1042,169,261 - 42,170,223 (-)NCBICelera
Cytogenetic Map10q22NCBI
OR2T4D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl142,763,585 - 2,764,547 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1142,763,585 - 2,764,547 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
LOC110259735
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1252,699,316 - 52,700,278 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:127
Count of miRNA genes:123
Interacting mature miRNAs:126
Transcripts:ENST00000366475
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 1 1
Low 3 7 3 6 10 9 1 1
Below cutoff 96 76 55 33 77 8 171 82 1007 7 253 41 25 27 109

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000366473   ⟹   ENSP00000355429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1248,361,665 - 248,362,627 (+)Ensembl
RefSeq Acc Id: ENST00000366475   ⟹   ENSP00000355431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1248,361,581 - 248,362,627 (+)Ensembl
RefSeq Acc Id: NM_001004696   ⟹   NP_001004696
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,361,665 - 248,362,627 (+)NCBI
GRCh371248,524,883 - 248,525,929 (+)RGD
Build 361246,591,506 - 246,592,552 (+)NCBI Archive
Celera1221,809,401 - 221,810,446 (+)RGD
HuRef1218,908,351 - 218,909,396 (+)RGD
CHM1_11249,797,082 - 249,798,128 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001004696 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein ALI87561 (Get FASTA)   NCBI Sequence Viewer  
  BAC05842 (Get FASTA)   NCBI Sequence Viewer  
  DAA04862 (Get FASTA)   NCBI Sequence Viewer  
  EAW77224 (Get FASTA)   NCBI Sequence Viewer  
  Q8NH00 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001004696   ⟸   NM_001004696
- Sequence:
RefSeq Acc Id: ENSP00000355431   ⟸   ENST00000366475
RefSeq Acc Id: ENSP00000355429   ⟸   ENST00000366473
Protein Domains
G_PROTEIN_RECEP_F1_2


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 1q44(chr1:247682931-248609256)x3 copy number gain See cases [RCV000051191] Chr1:247682931..248609256 [GRCh38]
Chr1:247846233..248772557 [GRCh37]
Chr1:245912856..246839180 [NCBI36]
Chr1:1q44
benign
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_001004696.1(OR2T4):c.12C>T (p.Ile4=) single nucleotide variant Malignant melanoma [RCV000064668] Chr1:248361592 [GRCh38]
Chr1:248524894 [GRCh37]
Chr1:246591517 [NCBI36]
Chr1:1q44
not provided
NM_001004696.1(OR2T4):c.85A>G (p.Met29Val) single nucleotide variant Malignant melanoma [RCV000064669] Chr1:248361665 [GRCh38]
Chr1:248524967 [GRCh37]
Chr1:246591590 [NCBI36]
Chr1:1q44
not provided
NM_001004696.1(OR2T4):c.634G>A (p.Glu212Lys) single nucleotide variant Malignant melanoma [RCV000064670] Chr1:248362214 [GRCh38]
Chr1:248525516 [GRCh37]
Chr1:246592139 [NCBI36]
Chr1:1q44
not provided
NM_001004696.1(OR2T4):c.987C>T (p.Val329=) single nucleotide variant Malignant melanoma [RCV000064671] Chr1:248362567 [GRCh38]
Chr1:248525869 [GRCh37]
Chr1:246592492 [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 1q44(chr1:248176671-248400557)x1 copy number loss See cases [RCV000134753] Chr1:248176671..248400557 [GRCh38]
Chr1:248339973..248563858 [GRCh37]
Chr1:246406596..246630481 [NCBI36]
Chr1:1q44
benign
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(chr1:247798967-248521608)x3 copy number gain See cases [RCV000136496] Chr1:247798967..248521608 [GRCh38]
Chr1:247962269..248684909 [GRCh37]
Chr1:246028892..246751532 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q44(chr1:248176668-248406116)x3 copy number gain See cases [RCV000136153] Chr1:248176668..248406116 [GRCh38]
Chr1:248339970..248569417 [GRCh37]
Chr1:246406593..246636040 [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 1q44(chr1:247389261-248472496)x3 copy number gain See cases [RCV000137367] Chr1:247389261..248472496 [GRCh38]
Chr1:247552563..248635797 [GRCh37]
Chr1:245619186..246702420 [NCBI36]
Chr1:1q44
likely benign
GRCh38/hg38 1q44(chr1:247798967-248376495)x1 copy number loss See cases [RCV000138075] Chr1:247798967..248376495 [GRCh38]
Chr1:247962269..248539796 [GRCh37]
Chr1:246028892..246606419 [NCBI36]
Chr1:1q44
likely benign
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 1q44(chr1:247613235-248521590)x3 copy number gain See cases [RCV000138760] Chr1:247613235..248521590 [GRCh38]
Chr1:247776537..248684891 [GRCh37]
Chr1:245843160..246751514 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q44(chr1:247682929-248521590)x3 copy number gain See cases [RCV000139219] Chr1:247682929..248521590 [GRCh38]
Chr1:247846231..248684891 [GRCh37]
Chr1:245912854..246751514 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q44(chr1:247682929-248622297)x3 copy number gain See cases [RCV000138963] Chr1:247682929..248622297 [GRCh38]
Chr1:247846231..248785598 [GRCh37]
Chr1:245912854..246852221 [NCBI36]
Chr1:1q44
benign
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 1q44(chr1:247930527-248622261)x3 copy number gain See cases [RCV000141453] Chr1:247930527..248622261 [GRCh38]
Chr1:248093829..248785562 [GRCh37]
Chr1:246160452..246852185 [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(chr1:247404783-248472496)x3 copy number gain See cases [RCV000142763] Chr1:247404783..248472496 [GRCh38]
Chr1:247568085..248635797 [GRCh37]
Chr1:245634708..246702420 [NCBI36]
Chr1:1q44
likely benign|uncertain significance
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
chr1:248525146-248525657 complex variant complex Ductal breast carcinoma [RCV000207082] Chr1:248525146..248525657 [GRCh37]
Chr1:1q44
uncertain significance
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 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 1q44(chr1:244197791-249224684)x4 copy number gain See cases [RCV000510563] Chr1:244197791..249224684 [GRCh37]
Chr1:1q44
likely 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 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(chr1:246753355-249224684)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 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(chr1:248509182-248621551)x3 copy number gain not provided [RCV000749453] Chr1:248509182..248621551 [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(chr1:245341153-249212429) copy number loss not provided [RCV000767543] Chr1:245341153..249212429 [GRCh37]
Chr1:1q44
likely pathogenic
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 1q44(chr1:244379481-249224684)x1 copy number loss not provided [RCV000845861] Chr1:244379481..249224684 [GRCh37]
Chr1:1q44
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787401] Chr1:247846701..248592414 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:247576587-248688602)x4 copy number gain not provided [RCV000849147] Chr1:247576587..248688602 [GRCh37]
Chr1:1q44
uncertain significance
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 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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15016 AgrOrtholog
COSMIC OR2T4 COSMIC
Ensembl Genes ENSG00000196944 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274870 UniProtKB/Swiss-Prot
  ENSG00000275617 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000355429 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000355431 UniProtKB/Swiss-Prot
  ENSP00000478105 UniProtKB/Swiss-Prot
  ENSP00000484014 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366473 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000366475 UniProtKB/Swiss-Prot
  ENST00000621754 UniProtKB/Swiss-Prot
  ENST00000622637 UniProtKB/Swiss-Prot
GTEx ENSG00000196944 GTEx
  ENSG00000274870 GTEx
  ENSG00000275617 GTEx
HGNC ID HGNC:15016 ENTREZGENE
Human Proteome Map OR2T4 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:127074 UniProtKB/Swiss-Prot
NCBI Gene 127074 ENTREZGENE
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32204 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
UniGene Hs.553586 ENTREZGENE
UniProt A0A126GVU6_HUMAN UniProtKB/TrEMBL
  A0A2C9F2M9_HUMAN UniProtKB/TrEMBL
  OR2T4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q6IEZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR2T4  olfactory receptor family 2 subfamily T member 4    olfactory receptor, family 2, subfamily T, member 4  Symbol and/or name change 5135510 APPROVED