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Gene: OR2T12 (olfactory receptor family 2 subfamily T member 12) Homo sapiens

Analyze

No known orthologs.

Symbol:

OR2T12

Name:

olfactory receptor family 2 subfamily T member 12

RGD ID:

1350170

HGNC Page

HGNC:19592

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:

novel 7 transmembrane receptor (rhodopsin family) protein; olfactory receptor 2T12; olfactory receptor OR1-57; olfactory receptor, family 2, subfamily T, member 12; OR1-57

RGD Orthologs

Alliance Orthologs

More Info

homologs ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	248,290,139 - 248,303,424 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	248,290,139 - 248,303,424 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	248,453,441 - 248,466,726 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	246,524,541 - 246,525,503 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	244,783,958 - 244,784,921	NCBI
Celera	1	221,742,492 - 221,743,454 (-)	NCBI		Celera
Cytogenetic Map	1	q44	NCBI
HuRef	1	218,840,985 - 218,841,947 (-)	NCBI		HuRef
CHM1_1	1	249,730,339 - 249,731,301 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	247,716,221 - 247,729,507 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

developmental and epileptic encephalopathy 54 (IAGP)

gastrointestinal stromal tumor (IAGP)

Neurodevelopmental Disorders (IAGP)

parathyroid carcinoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

bisphenol A (EXP)

mono(2-ethylhexyl) phthalate (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

detection of chemical stimulus involved in sensory perception of smell (IBA,IEA)

G protein-coupled receptor signaling pathway (IEA)

sensory perception of smell (IEA)

Cellular Component

membrane (IEA)

plasma membrane (IBA,IEA)

Molecular Function

G protein-coupled receptor activity (IEA)

olfactory receptor activity (IBA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Gastrointestinal stroma tumor (IAGP)

Parathyroid carcinoma (IAGP)

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:16710414	PMID:21873635	PMID:32126975	PMID:33961781

Genomics

Variants

Variants in OR2T12
30 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 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(chr1:246386899-248918469)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
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
NM_001004692.1(OR2T12):c.878G>A (p.Ser293Asn)	single nucleotide variant	Malignant melanoma [RCV000060155]	Chr1:248294701 [GRCh38] Chr1:248458003 [GRCh37] Chr1:246524626 [NCBI36] Chr1:1q44	not provided
NM_001004692.1(OR2T12):c.517G>A (p.Asp173Asn)	single nucleotide variant	Malignant melanoma [RCV000060156]	Chr1:248295062 [GRCh38] Chr1:248458364 [GRCh37] Chr1:246524987 [NCBI36] Chr1:1q44	not provided
NM_001004692.1(OR2T12):c.805G>A (p.Asp269Asn)	single nucleotide variant	Malignant melanoma [RCV000064664]	Chr1:248294774 [GRCh38] Chr1:248458076 [GRCh37] Chr1:246524699 [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 1q44(chr1:248138177-248317448)x1	copy number loss	See cases [RCV000134199]	Chr1:248138177..248317448 [GRCh38] Chr1:248301479..248480750 [GRCh37] Chr1:246368102..246547373 [NCBI36] Chr1:1q44	benign
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(chr1:247671583-248317448)x3	copy number gain	See cases [RCV000141216]	Chr1:247671583..248317448 [GRCh38] Chr1:247834885..248480750 [GRCh37] Chr1:245901508..246547373 [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
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 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(chr1:245341153-249212429)	copy number loss	not provided [RCV000767543]	Chr1:245341153..249212429 [GRCh37] Chr1:1q44	likely pathogenic
NM_001004692.2(OR2T12):c.9G>A (p.Met3Ile)	single nucleotide variant	not specified [RCV004323677]	Chr1:248295570 [GRCh38] Chr1:248458872 [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 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
Single allele	deletion	Neurodevelopmental disorder [RCV000787401]	Chr1:247846701..248592414 [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 1q44(chr1:244379481-249224684)x1	copy number loss	not provided [RCV000845861]	Chr1:244379481..249224684 [GRCh37] Chr1:1q44	pathogenic
GRCh37/hg19 1q44(chr1:247576587-248688602)x4	copy number gain	not provided [RCV000849147]	Chr1:247576587..248688602 [GRCh37] Chr1:1q44	uncertain significance
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 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(chr1:248415451-248639486)x3	copy number gain	not provided [RCV001834280]	Chr1:248415451..248639486 [GRCh37] Chr1:1q44	likely benign
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 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 1q43-44(chr1:239910960-249224684)x1	copy number loss	not provided [RCV002474504]	Chr1:239910960..249224684 [GRCh37] Chr1:1q43-44	pathogenic
NM_001004692.2(OR2T12):c.359G>A (p.Arg120His)	single nucleotide variant	not specified [RCV004162494]	Chr1:248295220 [GRCh38] Chr1:248458522 [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_001004692.2(OR2T12):c.758G>C (p.Gly253Ala)	single nucleotide variant	not specified [RCV004131762]	Chr1:248294821 [GRCh38] Chr1:248458123 [GRCh37] Chr1:1q44	likely benign
NM_001004692.2(OR2T12):c.353A>G (p.Tyr118Cys)	single nucleotide variant	not specified [RCV004224828]	Chr1:248295226 [GRCh38] Chr1:248458528 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.38T>C (p.Leu13Pro)	single nucleotide variant	not specified [RCV004101796]	Chr1:248295541 [GRCh38] Chr1:248458843 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.237G>A (p.Met79Ile)	single nucleotide variant	not specified [RCV004189408]	Chr1:248295342 [GRCh38] Chr1:248458644 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.683C>G (p.Ser228Cys)	single nucleotide variant	not specified [RCV004240165]	Chr1:248294896 [GRCh38] Chr1:248458198 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.368C>A (p.Ala123Asp)	single nucleotide variant	not specified [RCV004237214]	Chr1:248295211 [GRCh38] Chr1:248458513 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.290T>C (p.Val97Ala)	single nucleotide variant	not specified [RCV004078464]	Chr1:248295289 [GRCh38] Chr1:248458591 [GRCh37] Chr1:1q44	likely benign
NM_001004692.2(OR2T12):c.386G>A (p.Arg129Gln)	single nucleotide variant	not specified [RCV004146455]	Chr1:248295193 [GRCh38] Chr1:248458495 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.430A>G (p.Met144Val)	single nucleotide variant	not specified [RCV004201570]	Chr1:248295149 [GRCh38] Chr1:248458451 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.538C>T (p.Pro180Ser)	single nucleotide variant	not specified [RCV004140172]	Chr1:248295041 [GRCh38] Chr1:248458343 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.702G>T (p.Lys234Asn)	single nucleotide variant	not specified [RCV004134582]	Chr1:248294877 [GRCh38] Chr1:248458179 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.391C>T (p.Pro131Ser)	single nucleotide variant	not specified [RCV004123103]	Chr1:248295188 [GRCh38] Chr1:248458490 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.502G>A (p.Gly168Ser)	single nucleotide variant	not specified [RCV004260111]	Chr1:248295077 [GRCh38] Chr1:248458379 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.772A>G (p.Met258Val)	single nucleotide variant	not specified [RCV004264572]	Chr1:248294807 [GRCh38] Chr1:248458109 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.158T>C (p.Leu53Pro)	single nucleotide variant	not specified [RCV004254210]	Chr1:248295421 [GRCh38] Chr1:248458723 [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_001004692.2(OR2T12):c.34C>A (p.Leu12Ile)	single nucleotide variant	not specified [RCV004263382]	Chr1:248295545 [GRCh38] Chr1:248458847 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.730G>T (p.Ala244Ser)	single nucleotide variant	not specified [RCV004253186]	Chr1:248294849 [GRCh38] Chr1:248458151 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.20C>T (p.Thr7Ile)	single nucleotide variant	not specified [RCV004290251]	Chr1:248295559 [GRCh38] Chr1:248458861 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.917G>A (p.Cys306Tyr)	single nucleotide variant	not specified [RCV004310093]	Chr1:248294662 [GRCh38] Chr1:248457964 [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_001004692.2(OR2T12):c.661G>A (p.Ala221Thr)	single nucleotide variant	not specified [RCV004343629]	Chr1:248294918 [GRCh38] Chr1:248458220 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.784T>C (p.Ser262Pro)	single nucleotide variant	not specified [RCV004354789]	Chr1:248294795 [GRCh38] Chr1:248458097 [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
GRCh37/hg19 1q44(chr1:246983973-249224684)x1	copy number loss	not provided [RCV003484177]	Chr1:246983973..249224684 [GRCh37] Chr1:1q44	uncertain significance
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	copy number gain	not specified [RCV003986862]	Chr1:238681812..249224684 [GRCh37] Chr1:1q43-44	likely pathogenic
GRCh37/hg19 1q44(chr1:246765135-249224684)x1	copy number loss	not provided [RCV004442832]	Chr1:246765135..249224684 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.572C>T (p.Ser191Leu)	single nucleotide variant	not specified [RCV004504106]	Chr1:248295007 [GRCh38] Chr1:248458309 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.827A>G (p.Tyr276Cys)	single nucleotide variant	not specified [RCV004504107]	Chr1:248294752 [GRCh38] Chr1:248458054 [GRCh37] Chr1:1q44	uncertain significance
NM_001004692.2(OR2T12):c.476T>C (p.Val159Ala)	single nucleotide variant	not specified [RCV004504104]	Chr1:248295103 [GRCh38] Chr1:248458405 [GRCh37] Chr1:1q44	likely benign
NM_001004692.2(OR2T12):c.694C>T (p.Arg232Cys)	single nucleotide variant	not specified [RCV004655446]	Chr1:248294885 [GRCh38] Chr1:248458187 [GRCh37] Chr1:1q44	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	64
Count of miRNA genes:	64
Interacting mature miRNAs:	64
Transcripts:	ENST00000317996
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597075638	GWAS1171712_H	major depressive disorder QTL GWAS1171712 (human)		4e-20	major depressive disorder		1	248295464	248295465	Human
596950711	GWAS1070230_H	major depressive disorder QTL GWAS1070230 (human)		4e-20	major depressive disorder		1	248295464	248295465	Human
407082776	GWAS731752_H	unipolar depression QTL GWAS731752 (human)		4e-20	unipolar depression		1	248295464	248295465	Human

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
16	55	61	18	242	93	111	10	48	7	41	129	119	4	247	21	195	94	4

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001004692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001412178	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065960	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL450303	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS248610	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000317996 ⟹ ENSP00000324583

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	248,294,535 - 248,295,600 (-)	Ensembl

Ensembl Acc Id:

ENST00000641276 ⟹ ENSP00000493000

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	248,290,139 - 248,303,424 (-)	Ensembl

RefSeq Acc Id:

NM_001004692 ⟹ NP_001004692

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	248,290,139 - 248,303,424 (-)	NCBI
GRCh37	1	248,457,918 - 248,458,880 (-)	RGD
Build 36	1	246,524,541 - 246,525,503 (-)	NCBI Archive
Celera	1	221,742,492 - 221,743,454 (-)	RGD
HuRef	1	218,840,985 - 218,841,947 (-)	RGD
CHM1_1	1	249,730,339 - 249,731,301 (-)	NCBI
T2T-CHM13v2.0	1	247,716,221 - 247,729,507 (-)	NCBI

Sequence:

show sequence

AAGATATTTATATGTTTTTGCCTTTTTAGGAAACTACAATCTCATTGAAAATATACACTATTCA
GATCAGTACTAAGAGTGAAGAGTCCTGGATAACTTGGAGTTGCAATGATATTTCACCACAGATC
CATTTTTATAGGAATATATACAAATACCTCTTGGAATCCCAATGTTATCTTCACTGCATTTTCA
GATTGTTTATATCCTGGATAACTTACACTGAGCTTCAGGATTGGGTCTCATATTCCTGGTGCCT
AAAGGGGAAATTATGGAGATGAGAAATACTACCCCAGATTTTATTCTCCTAGGACTCTTTAACC
ACACCAGAGCCCACCAAGTCCTCTTCATGATGCTTCTGGCCACCGTTTTGACCTCCCTGTTTAG
CAATGCCCTCATGATTCTCCTGATTCACTGGGACCACCGGCTCCACAGGCCCATGTACTTCCTC
CTGAGCCAACTTTCCCTCATGGACATGATGCTGGTTTCCACCACTGTGCCCAAAATGGCGGCTG
ACTACTTGACCGGAAATAAGGCCATCTCCCGCGCTGGCTGTGGTGTGCAGATCTTCTTCCTCCC
CACACTGGGTGGTGGAGAGTGCTTCCTCTTAGCAGCCATGGCCTATGACCGCTATGCGGCTGTC
TGCCACCCACTCCGATATCCCACTCTCATGAGCTGGCAGCTGTGCCTGAGGATGACCATGTCGT
CCTGGCTCCTGGGTGCAGCTGACGGCCTCCTGCAGGCTGTTGCTACCCTGAGCTTCCCATATTG
CGGTGCACACGAGATCGATCACTTCTTCTGCGAGGCCCCCGTGTTGGTGCGTTTGGCTTGTGCT
GACACTTCAGTCTTCGAAAACGCCATGTACATCTGCTGTGTGTTAATGCTCCTGGTCCCCTTTT
CCCTCATCCTGTCCTCCTATGGTCTCATCCTCGCTGCTGTTCTGCTCATGCGCTCTACAGAAGC
CCGCAAGAAGGCCTTTGCCACCTGCTCTTCACATGTGGCTGTGGTGGGACTCTTTTATGGAGCT
GGCATTTTTACCTATATGAGACCCAAATCCCACAGGTCCACTAACCACGATAAGGTTGTGTCAG
CCTTCTATACTATGTTCACCCCTTTACTAAATCCCCTCATCTACAGTGTGAGGAACAGTGAGGT
CAAGGAAGCCCTGAAACGGTGGCTGGGGACGTGTGTAAACCTAAAACACCAGCAAAATGAGGCC
CACAGGTCAAGATGATCTAGTGTCAGATGAGTCTAAGTTCCTGAATTTATTAACATTTTAACAC
TATGTAATTCTCTCCCTTTAGTAATTCATGAAGAGAAAATTAAGTTTGTGTATTGATATAATAA
GATATTTTTAAGAATGAAGTGAGCCAATTGTATTGACAGATACCATTTTTGAGCATTTATGTAC
TTTTCTTCAAGTGAAGTAATACCTATAGATTACTTTGTATCCTACAACAACCCCATGATATAAG
TTTTCTTTTTTTCTTTTGCAAACTCCAAATCTTTAAAAGGTGTCCCAAATTTTTCATCAAAAAT
ATCTCTACTTACCTATGCCTTGGGAGAAGTAAGGTAACCCAATAATGTATAAGGTTGTTGAGTG
TTACTCAATTTCCTACTATCTGAAAAAAGAAATTAACACATGGAAAGTTAAATATGGTTCCTAA
TTTCACATAGAACAGAAATATTAAAAAGTGACTCCAAAGCTTGTACCCTAACCTGGAAGAGTTT
ATTTCTGTTCAATAATGTATTTTGAGTGTTATTTCCCATGTGTATGCTCTACAATTAAAAACTA
AATATGAGGACTCCACCAAAGACAAATAACATTATTTTTAAGTTATATTTTAAAATATAGATGC
ATGACAAAAGGGGAAGTACACAACTCAAATGTAACTGCTATATTGTCACAATCTTTTTTTATTT
TTTCCAGTCTCTTTTTATTTGGTGTTTTAAGGCAAACTTTTTTAAATTCATGTAATTTTTTATA
TAAGTAATATTTATCTTTTCCAAGAGCGTCATTGTAATTGCATTGGAAAATTGTTTTAAACTAC
AAATAAGTTCTCTTTTCTACACGTGCTTTAAGGTTACCTTGACTTATTGACATACCTCCATCGA
TATGAACTCTGAATTGCATGATCATGCTGAATCTTGACAGTTACTAACAATGAGTTATCAAAGC
TGAGTAAGACTCAACAACCTTATACATTATTGGGTTACCTTACTTCTCCCAAGGCATAGGTAAG
TAGAGATATTTCTGATGAAAAATTTGGGACACATTTTAAAGATTTGGAGTTTGCAGAAGAATAA
AAGAAGACTATACTATTATTAAAGACACAAGATAGATAGTGATGGAGGAAAGCAGTGGTTATCA
AAGCCAAATTGTAATCAGAGACTGGATATCAAATTGTCTTAGAGAGTTTTATGATAAAGGCTAT
ATTTCCCATATGTAAAACACACTTAAGAAATAATATAAGTTTTTAACACGAAGGAGGAAATAAC
TAAGAGCTTCCAGGGACAATGTATCTTCAATATAAGTGTCTGAAAGTTAACCCGCCATTTCAGA
CCAACCTGAATTTCAAAAGGTAACTGTTCTAGAACAAGTGAAAGGAGTTTCCTGCTTCATCTAG
ATCTTCAGGTTCCAAAGCAGTAATATAGTTAAGATAGTACCTTAACCACTGCATGCAGATCCTG
AGCCCATGTCTTAAGAGAAGGCTATTCAGTAAACTCTTGTCTCCTTGGAAGACTTGAGGATGAC
AGGAGAGAGTGTCATCTGTTTAAGACTAAGAGTTTCCTACTCTTGTTAATTAATCTCCTTACCC
AGTGTTAGAGTGAGAAAGGAACAGAACTGCACAAATTCTGTCATTATACCATCTAAAAAATCTT
CTCTTAGAATGGGTGAAAATTACACAAGTACATGTAGTCGTGGAAATTTCATTACTCATACCAG
GTTCATGCACCATCAGAGAAATTATTTTAGAACACGTTGAGTTACAAATGGTAAACTAAGCCTT
TAAAATTTTGTAAGGATAAAATATTCTAACCAGAAAATTAAGCCTAATGTTCAGGAGAAAACTA
AAACAACAACAACAACAAAACCACGGAATGAACATTATCTCCAAGCAAACGTAAGACATTAATA
AAAACACAAAATATGTATAAAAATAGACATGTTTCAAAGAAGTGGTATTTCAGACTAGTTATCT
GATCACAATGAAAATAAATATGAAATAAAAATTTTAAATACTTTTAGAAATTATATGTTCATTT
CTTATTGCTTTTGTAACTTGCAGATGTTTCTACTCTTATTTTCTTAATAAAGGTTTGCATAGAA
AATCTTCAAAATCTTCAAAATGACAGGTTAACTTTCAGACACTTATATTGAAGATACATTGTCT
CTGGAAGCTTTTAGTTATTTCCCATTGTGTGTTTGAAAATGAGAAGATATGGTTCTTATGAATC
TCTAAAGTTAAAGAAGGAGTACCTGATAGAGACAGAGTATACAAGAGCATGAATGGTAGAAACA
AAATTTTGAATGAGGAGTTACTTCGAACATATGAAGCTCTAGCACCCAGTAACACAGAATCAAG
ATGAGGCTTTGAACTAATCTTGGATATTACCTGCTATCTTCAATCATTCTGGCTCTTTCCTTTA
CACTGCCTATATATTCTCTTTAATGTGTAATTTTTAAGTCATTAAGAAACATAATGTTGTGGCT
CCGACTAGAATTTATTCATCTTCTGCTGTGCAGAAGCTATTTAGTTTAATTATATCCCATTTGT
CAATTTTGGCTTTTGTTGCCATTGCTTTGGTGTTTTAGTCATGAAGTCTTTGCCCATGCCTATG
TCCTGAATGGTACTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTATGTTTTATGTTTAAGT
CTTCATCTTGAGTGATTTTTTGTATAAAGTTGAAGGAAGGGGTCCAGTTTCAGTTTTCTCCATA
TGGCTAGCCAGTTTTCCCAACATCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTT
GTCAGGTTTGTCAAAGAAGAGATGGTTGTATGGCATGAATTCTGAGGCCTCTGTTCTGTTTATT
GGTCTATATATCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTAAAG
TTTGAAGTAAGGTAGCATGATGCCACCAGCTTTGTTCTTTTTGCTTAGGATTGTCTTGGCTAAA
TGGGCTCTTTATTGATTCCATATGAAATTTAAAGTATTTTTTTCTAATTCTGTGAAGAAAGTCT
ATGGTAGCTTGATGGGGATAGCACTGAATGTATTAATTACTTTGGGCACTATGGTTTTTTTCAT
GGTATTGATTCTTCCTATCCATGAGCATGGAATATTTTTTCATTTGTTTGTGTCCTCTCTTATT
TCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCATATCCTTTATAAGTTGTATTC
CTAGGTGTTTTATTCCCTTTGTAGCAATTCTGAATGGGAATTCACTCATGATTTGGCTCTCTGT
CTATTATTGGTGTATGGGAAAGCTTGTGATTTTTACACATTGATATTGTATCCTGAGACTTTGC
TGAAGTTGCTTATCAGCTTAAGGAGATTTTGAGCTGAGATGATGGGGTGTTCTAAATATGCAAT
CATGTAATCTGCAAACAGAGGCAGTTTGACTTCCTCTCTTCCTTTGGATTCATCAGAGTAAACA
GGCAACTTAGAGAATGGGAGAAAATTTTTGCAATCTATCCATCTGACAAATGGCTAATATCAAG
AATCTACAAGGAACTTAAACATATTTATAAGAAAAAAAAAACAACCCCATCAAAAAGTGGGCAA
AGTATATGAACAGACATTTCTCAAACGAAGACATTTATGTGGCCAAGAAATATATGAAAAAAAG
CTCATCATCACTGGTCCTTATAGAAATGCAAATCGAAACCACAGTGAGATACCATGTCACATCA
GTTAGAATGGCAATTATTAAAAAGTCACCAACATGGCACATGTATACATATGTAACAAACCTGC
ACATTGTGCACATGTACCCTAAAACTTAAAGTATAATAAAATAAAGTAAAAAAAGTCAGGAAAC
AACAGACGCTGGCACGTATGCGGAGAAATAGCAACGCTTTTACCATGTTGTTTTGGGAGTGTAA
ATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTCAAGGATCTAGAACTAGAAATGCCA
TTTGACCCAGAAATCCCATTTCTGGGTATATACCCAAAGGATTTTAAATCATTCCACTAAAAAG
ACACATGCACACATATGTTTATTGCAGTTATTCCCAATAGTAAATATGTGAATCCAACCCAAAA
GCCCATCAATGATAGACTGGCTAAAGTAGCTGTGGCACATATACACCACAAATACTATACAGCC
ATTGGAAAGGATGAGTTTATGTCCTTTGCAGGGACATGGATGAAACTGGAGACCATCATTCCCA
GGAAACTAACACAGGAACAGAAAACCAAACACCGCATGTTCTCATTCATAAGTGGAATTAAATA
GGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGGTTGTCAAAGAACAGATGGTTGTATGGCAT
TAATTCTGAGGCCTCTTTTCTGTTTATGAGGCCTCTGTTCATGAACAATGAGAATACATGGACA
CAGGGAGGGAAA

hide sequence

RefSeq Acc Id:

NM_001412178 ⟹ NP_001399107

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	247,716,221 - 247,729,507 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001004692	(Get FASTA)	NCBI Sequence Viewer
	NP_001399107	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	BAC06172	(Get FASTA)	NCBI Sequence Viewer
	CAJ56821	(Get FASTA)	NCBI Sequence Viewer
	DAA04883	(Get FASTA)	NCBI Sequence Viewer
	EAW77221	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000493000
	ENSP00000493000.1
GenBank Protein	Q8NG77	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001004692 ⟸ NM_001004692
- Peptide Label:	isoform 1
- UniProtKB:	Q8NG77 (UniProtKB/Swiss-Prot), A0A126GWP8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEMRNTTPDFILLGLFNHTRAHQVLFMMLLATVLTSLFSNALMILLIHWDHRLHRPMYFLLSQL SLMDMMLVSTTVPKMAADYLTGNKAISRAGCGVQIFFLPTLGGGECFLLAAMAYDRYAAVCHPL RYPTLMSWQLCLRMTMSSWLLGAADGLLQAVATLSFPYCGAHEIDHFFCEAPVLVRLACADTSV FENAMYICCVLMLLVPFSLILSSYGLILAAVLLMRSTEARKKAFATCSSHVAVVGLFYGAGIFT YMRPKSHRSTNHDKVVSAFYTMFTPLLNPLIYSVRNSEVKEALKRWLGTCVNLKHQQNEAHRSR hide sequence

Ensembl Acc Id:

ENSP00000493000 ⟸ ENST00000641276

Ensembl Acc Id:

ENSP00000324583 ⟸ ENST00000317996

RefSeq Acc Id:	NP_001399107 ⟸ NM_001412178
- Peptide Label:	isoform 2
- UniProtKB:	A0A126GWP8 (UniProtKB/TrEMBL)

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NG77-F1-model_v2	AlphaFold	Q8NG77	1-320	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19592	AgrOrtholog
COSMIC	OR2T12	COSMIC
Ensembl Genes	ENSG00000177201	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000641276	ENTREZGENE
	ENST00000641276.1	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000177201	GTEx
HGNC ID	HGNC:19592	ENTREZGENE
Human Proteome Map	OR2T12	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:127064	UniProtKB/Swiss-Prot
NCBI Gene	OR2T12	ENTREZGENE
PANTHER	OLFACTORY RECEPTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	7tm_4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134941840	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	A0A126GWP8	ENTREZGENE, UniProtKB/TrEMBL
	O2T12_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	OR2T12	olfactory receptor family 2 subfamily T member 12	OR2T12	olfactory receptor, family 2, subfamily T, member 12	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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