OR13J1 (olfactory receptor family 13 subfamily J member 1)

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Gene: OR13J1 (olfactory receptor family 13 subfamily J member 1) Homo sapiens

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Symbol:

OR13J1

Name:

olfactory receptor family 13 subfamily J member 1

RGD ID:

1347486

HGNC Page

HGNC:15108

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 13J1; olfactory receptor OR9-2; olfactory receptor, family 13, subfamily J, member 1; OR9-2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	9	35,869,463 - 35,870,401 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	35,869,463 - 35,870,401 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	35,869,460 - 35,870,398 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	35,859,460 - 35,860,398 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	35,859,459 - 35,860,398	NCBI
Celera	9	35,803,004 - 35,803,942 (-)	NCBI		Celera
Cytogenetic Map	9	p13.3	NCBI
HuRef	9	35,825,475 - 35,826,413 (-)	NCBI		HuRef
CHM1_1	9	35,869,858 - 35,870,796 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	35,890,151 - 35,891,089 (-)	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

acromesomelic dysplasia, Maroteaux type (IAGP)

anauxetic dysplasia (IAGP)

autosomal recessive distal hereditary motor neuronopathy 2 (IAGP)

distal arthrogryposis type 1A (IAGP)

frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (IAGP)

galactosemia (IAGP)

hyperphosphatasia with impaired intellectual development syndrome 2 (IAGP)

paraplegia (IAGP)

primary ciliary dyskinesia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

4,4'-sulfonyldiphenol (ISO)

atrazine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium dichloride (ISO)

clofibrate (ISO)

N,N-diethyl-m-toluamide (ISO)

N-methyl-4-phenylpyridinium (ISO)

permethrin (ISO)

resveratrol (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

Spastic paraplegia (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:12213199	PMID:12477932	PMID:14983052	PMID:15164053	PMID:21873635	PMID:33961781

Genomics

Comparative Map Data

OR13J1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	35,869,463 - 35,870,401 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	35,869,463 - 35,870,401 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	35,869,460 - 35,870,398 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	35,859,460 - 35,860,398 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	35,859,459 - 35,860,398	NCBI
Celera	9	35,803,004 - 35,803,942 (-)	NCBI		Celera
Cytogenetic Map	9	p13.3	NCBI
HuRef	9	35,825,475 - 35,826,413 (-)	NCBI		HuRef
CHM1_1	9	35,869,858 - 35,870,796 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	35,890,151 - 35,891,089 (-)	NCBI		T2T-CHM13v2.0

Or13j1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	43,705,628 - 43,706,566 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	43,704,562 - 43,710,255 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	43,705,628 - 43,706,566 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	43,704,562 - 43,710,255 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	43,718,500 - 43,719,438 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	43,726,728 - 43,727,666 (-)	NCBI		MGSCv36	mm8
Celera	4	43,740,155 - 43,741,093 (-)	NCBI		Celera
Cytogenetic Map	4	A5	NCBI
cM Map	4	23.05	NCBI

Or13j1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	62,757,159 - 62,758,097 (-)	NCBI		GRCr8
mRatBN7.2	5	57,961,391 - 57,962,329 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	57,960,219 - 57,965,853 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	59,941,699 - 59,942,637 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	61,760,511 - 61,761,449 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	61,731,532 - 61,732,470 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	59,207,120 - 59,208,058 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	59,207,120 - 59,208,058 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	63,731,910 - 63,732,848 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	60,190,632 - 60,191,570 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	60,190,810 - 60,191,749 (-)	NCBI
Celera	5	56,541,849 - 56,542,787 (-)	NCBI		Celera
Cytogenetic Map	5	q22	NCBI

LOC102009376
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955472	452,944 - 453,879 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955472	452,846 - 454,056 (+)	NCBI	ChiLan1.0	ChiLan1.0

LOC100981170
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	11	88,717,577 - 88,719,605 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	88,723,515 - 88,725,627 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	35,718,990 - 35,722,649 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	36,522,294 - 36,523,368 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

OR13J1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	52,399,129 - 52,400,349 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	52,399,129 - 52,400,067 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	50,966,700 - 50,967,659 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	53,464,128 - 53,465,087 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	53,464,128 - 53,465,066 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	52,008,633 - 52,009,592 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	51,993,056 - 51,994,015 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	52,694,338 - 52,695,297 (-)	NCBI		UU_Cfam_GSD_1.0

LOC100157239
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	1	236,595,655 - 236,597,257 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	264,320,990 - 264,322,710 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LOC103219206
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	12	44,734,172 - 44,735,627 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	44,734,504 - 44,735,442 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	41,839,613 - 41,840,725 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

LOC101712037
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624868	4,910,350 - 4,911,288 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624868	4,910,350 - 4,911,288 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in OR13J1
29 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	copy number gain	See cases [RCV000050357]	Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	copy number gain	See cases [RCV000051106]	Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3	copy number gain	See cases [RCV000053703]	Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	copy number gain	See cases [RCV000053747]	Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
NM_001004487.1(OR13J1):c.331G>A (p.Glu111Lys)	single nucleotide variant	Malignant melanoma [RCV000068659]	Chr9:35870071 [GRCh38] Chr9:35870068 [GRCh37] Chr9:35860068 [NCBI36] Chr9:9p13.3	not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	copy number gain	See cases [RCV000133829]	Chr9:33225730..38529813 [GRCh38] Chr9:33225728..38529810 [GRCh37] Chr9:33215728..38519810 [NCBI36] Chr9:9p13.3-13.1	pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	copy number gain	See cases [RCV000134038]	Chr9:35623500..38815474 [GRCh38] Chr9:35623497..38815471 [GRCh37] Chr9:35613497..38805471 [NCBI36] Chr9:9p13.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	copy number gain	See cases [RCV000135344]	Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11	pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	copy number loss	See cases [RCV000134762]	Chr9:33572681..36782015 [GRCh38] Chr9:33572679..36782012 [GRCh37] Chr9:33562679..36772012 [NCBI36] Chr9:9p13.3-13.2	pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	copy number gain	See cases [RCV000136152]	Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12	pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	copy number gain	See cases [RCV000135954]	Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13	pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	copy number gain	See cases [RCV000137741]	Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2	pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	copy number gain	See cases [RCV000137888]	Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	copy number gain	See cases [RCV000139208]	Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	copy number gain	See cases [RCV000139126]	Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	copy number gain	See cases [RCV000140448]	Chr9:18344605..68257015 [GRCh38] Chr9:18344603..68995221 [GRCh37] Chr9:18334603..68285041 [NCBI36] Chr9:9p22.2-q21.11	pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	copy number gain	See cases [RCV000141904]	Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	copy number gain	See cases [RCV000141663]	Chr9:31426827..68257015 [GRCh38] Chr9:31426825..68330127 [GRCh37] Chr9:31416825..67819947 [NCBI36] Chr9:9p21.1-q21.11	pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	copy number gain	See cases [RCV000142317]	Chr9:28975663..38787483 [GRCh38] Chr9:28975661..38787480 [GRCh37] Chr9:28965661..38777480 [NCBI36] Chr9:9p21.1-13.1	likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	copy number gain	See cases [RCV000143012]	Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	copy number gain	See cases [RCV000143411]	Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	copy number gain	See cases [RCV000148159]	Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	copy number gain	See cases [RCV000240201]	Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	copy number gain	See cases [RCV000240048]	Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	copy number gain	See cases [RCV000239869]	Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	copy number gain	MISSED ABORTION [RCV002282974]	Chr9:203861..35903398 [GRCh37] Chr9:9p24.3-13.3	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4	copy number gain	See cases [RCV000449165]	Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	copy number gain	See cases [RCV000447246]	Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	copy number gain	See cases [RCV000446521]	Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	copy number gain	See cases [RCV000448242]	Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3	copy number gain	See cases [RCV000448569]	Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	copy number gain	See cases [RCV000510864]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299]	Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2	likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	copy number gain	See cases [RCV000512431]	Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	copy number gain	not provided [RCV000683172]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	copy number gain	not provided [RCV000683176]	Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	copy number gain	not provided [RCV000683173]	Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	copy number gain	not provided [RCV000683175]	Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	copy number gain	not provided [RCV000683174]	Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13	pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup	duplication	Anauxetic dysplasia [RCV000708053]	Chr9:34645559..36277062 [GRCh38] Chr9:34645556..36277059 [GRCh37] Chr9:9p13.3	uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup	duplication	Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492]	Chr9:34458984..36277059 [GRCh37] Chr9:9p13.3	uncertain significance
Single allele	complex	Glioma [RCV000754871]	Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33	likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	copy number gain	not provided [RCV000767644]	Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_001004487.1(OR13J1):c.514C>T (p.His172Tyr)	single nucleotide variant	not specified [RCV004317328]	Chr9:35869888 [GRCh38] Chr9:35869885 [GRCh37] Chr9:9p13.3	uncertain significance
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	copy number gain	not provided [RCV000849826]	Chr9:34542635..68210033 [GRCh37] Chr9:9p13.3-q13	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	copy number gain	not provided [RCV000848175]	Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	copy number gain	not provided [RCV000845815]	Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	copy number gain	not provided [RCV001006167]	Chr9:203861..70984588 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	copy number loss	Neurodevelopmental disorder [RCV001580195]	Chr9:35059633..37660586 [GRCh37] Chr9:9p13.3-13.2	pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	copy number loss	Distal tetrasomy 15q [RCV002280776]	Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1	uncertain significance
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	copy number gain	not provided [RCV001259519]	Chr9:32192406..38311776 [GRCh37] Chr9:9p21.1-13.2	likely pathogenic
NC_000009.11:g.(?_35683146)_(36277049_?)dup	duplication	Arthrogryposis, distal, type 1A [RCV001345686]	Chr9:35683146..36277049 [GRCh37] Chr9:9p13.3	uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del	deletion	Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817]	Chr9:34459004..36276941 [GRCh37] Chr9:9p13.3	pathogenic
NC_000009.11:g.12246100_101559378inv	inversion	Recurrent spontaneous abortion [RCV000999471]	Chr9:12246100..101559378 [GRCh37] Chr9:9p23-q22.33	likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup	duplication	Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]\|Arthrogryposis, distal, type 1A [RCV003119438]\|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]\|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]\|Primary ciliary dyskinesia [RCV003119439]\|not provided [RCV003154083]	Chr9:32453279..37785041 [GRCh37] Chr9:9p21.1-13.2	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	copy number gain	not specified [RCV002053819]	Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	copy number gain	not specified [RCV002053820]	Chr9:203861..84155399 [GRCh37] Chr9:9p24.3-q21.32	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)	copy number gain	not specified [RCV002053818]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup	duplication	Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515]	Chr9:34459004..36276941 [GRCh37] Chr9:9p13.3	uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup	duplication	Anauxetic dysplasia [RCV003114124]	Chr9:34370797..36276941 [GRCh37] Chr9:9p13.3	uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	copy number gain	Tetrasomy 9p [RCV002280656]	Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	copy number gain	Bradycardia [RCV002280662]	Chr9:203861..68342786 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	copy number gain	Syndromic anorectal malformation [RCV002286608]	Chr9:48827..39154913 [GRCh37] Chr9:9p24.3-13.1	likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	copy number gain	See cases [RCV002292402]	Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11	pathogenic
NM_001004487.1(OR13J1):c.416G>A (p.Arg139Gln)	single nucleotide variant	not specified [RCV004126620]	Chr9:35869986 [GRCh38] Chr9:35869983 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.170C>A (p.Thr57Lys)	single nucleotide variant	not specified [RCV004159088]	Chr9:35870232 [GRCh38] Chr9:35870229 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.929C>T (p.Ala310Val)	single nucleotide variant	not specified [RCV004220548]	Chr9:35869473 [GRCh38] Chr9:35869470 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.175G>A (p.Val59Met)	single nucleotide variant	not specified [RCV004083351]	Chr9:35870227 [GRCh38] Chr9:35870224 [GRCh37] Chr9:9p13.3	likely benign
NM_001004487.1(OR13J1):c.359A>G (p.Tyr120Cys)	single nucleotide variant	not specified [RCV004093494]	Chr9:35870043 [GRCh38] Chr9:35870040 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.858C>A (p.Asn286Lys)	single nucleotide variant	not specified [RCV004171116]	Chr9:35869544 [GRCh38] Chr9:35869541 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.800C>A (p.Ala267Asp)	single nucleotide variant	not specified [RCV004119607]	Chr9:35869602 [GRCh38] Chr9:35869599 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.127A>G (p.Thr43Ala)	single nucleotide variant	not specified [RCV004138090]	Chr9:35870275 [GRCh38] Chr9:35870272 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.266G>A (p.Arg89Gln)	single nucleotide variant	not specified [RCV004111194]	Chr9:35870136 [GRCh38] Chr9:35870133 [GRCh37] Chr9:9p13.3	likely benign
NM_001004487.1(OR13J1):c.106C>A (p.Leu36Met)	single nucleotide variant	not specified [RCV004159778]	Chr9:35870296 [GRCh38] Chr9:35870293 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.901G>A (p.Ala301Thr)	single nucleotide variant	not specified [RCV004209329]	Chr9:35869501 [GRCh38] Chr9:35869498 [GRCh37] Chr9:9p13.3	likely benign
NM_001004487.1(OR13J1):c.101T>C (p.Met34Thr)	single nucleotide variant	not specified [RCV004114026]	Chr9:35870301 [GRCh38] Chr9:35870298 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.694G>A (p.Ala232Thr)	single nucleotide variant	not specified [RCV004231869]	Chr9:35869708 [GRCh38] Chr9:35869705 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.578C>T (p.Ser193Leu)	single nucleotide variant	not specified [RCV004208426]	Chr9:35869824 [GRCh38] Chr9:35869821 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.213C>G (p.Ile71Met)	single nucleotide variant	not specified [RCV004118484]	Chr9:35870189 [GRCh38] Chr9:35870186 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.109G>A (p.Val37Met)	single nucleotide variant	not specified [RCV004098448]	Chr9:35870293 [GRCh38] Chr9:35870290 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.379T>G (p.Cys127Gly)	single nucleotide variant	not specified [RCV004274874]	Chr9:35870023 [GRCh38] Chr9:35870020 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.203C>T (p.Thr68Ile)	single nucleotide variant	not specified [RCV004263846]	Chr9:35870199 [GRCh38] Chr9:35870196 [GRCh37] Chr9:9p13.3	likely benign
NM_001004487.1(OR13J1):c.378C>G (p.Ile126Met)	single nucleotide variant	not specified [RCV004274873]	Chr9:35870024 [GRCh38] Chr9:35870021 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.247G>A (p.Val83Ile)	single nucleotide variant	not specified [RCV004259562]	Chr9:35870155 [GRCh38] Chr9:35870152 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.499C>T (p.Pro167Ser)	single nucleotide variant	not specified [RCV004334452]	Chr9:35869903 [GRCh38] Chr9:35869900 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.397C>T (p.His133Tyr)	single nucleotide variant	not specified [RCV004358558]	Chr9:35870005 [GRCh38] Chr9:35870002 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.575C>A (p.Thr192Lys)	single nucleotide variant	not specified [RCV004362195]	Chr9:35869827 [GRCh38] Chr9:35869824 [GRCh37] Chr9:9p13.3	uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	copy number gain	not provided [RCV003484765]	Chr9:1475882..38771831 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	copy number loss	not specified [RCV003986844]	Chr9:35440393..38787480 [GRCh37] Chr9:9p13.3-13.1	likely pathogenic
NM_001004487.1(OR13J1):c.757G>A (p.Gly253Ser)	single nucleotide variant	not specified [RCV004501685]	Chr9:35869645 [GRCh38] Chr9:35869642 [GRCh37] Chr9:9p13.3	likely benign
NM_001004487.1(OR13J1):c.320C>T (p.Thr107Met)	single nucleotide variant	not specified [RCV004501682]	Chr9:35870082 [GRCh38] Chr9:35870079 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.406A>T (p.Met136Leu)	single nucleotide variant	not specified [RCV004501683]	Chr9:35869996 [GRCh38] Chr9:35869993 [GRCh37] Chr9:9p13.3	uncertain significance
GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	copy number loss	not provided [RCV004577467]	Chr9:35495055..39184042 [GRCh37] Chr9:9p13.3-13.1	pathogenic
NC_000009.11:g.(?_33436037)_(37436779_?)del	deletion	Spastic paraplegia [RCV004581844]	Chr9:33436037..37436779 [GRCh37] Chr9:9p13.3-13.2	pathogenic
NC_000009.11:g.(?_32453279)_(36276941_?)dup	duplication	not provided [RCV004582073]	Chr9:32453279..36276941 [GRCh37] Chr9:9p21.1-13.3	uncertain significance
NM_001004487.1(OR13J1):c.523A>C (p.Ser175Arg)	single nucleotide variant	not specified [RCV004646242]	Chr9:35869879 [GRCh38] Chr9:35869876 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.293C>T (p.Ala98Val)	single nucleotide variant	not specified [RCV004646243]	Chr9:35870109 [GRCh38] Chr9:35870106 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.424G>A (p.Val142Met)	single nucleotide variant	not specified [RCV004646244]	Chr9:35869978 [GRCh38] Chr9:35869975 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.415C>T (p.Arg139Trp)	single nucleotide variant	not specified [RCV004655301]	Chr9:35869987 [GRCh38] Chr9:35869984 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.602C>T (p.Ala201Val)	single nucleotide variant	not specified [RCV004655302]	Chr9:35869800 [GRCh38] Chr9:35869797 [GRCh37] Chr9:9p13.3	likely benign
NM_001004487.1(OR13J1):c.172C>T (p.Pro58Ser)	single nucleotide variant	not specified [RCV004655303]	Chr9:35870230 [GRCh38] Chr9:35870227 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.322G>C (p.Gly108Arg)	single nucleotide variant	not specified [RCV004655304]	Chr9:35870080 [GRCh38] Chr9:35870077 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001004487.1(OR13J1):c.565T>A (p.Cys189Ser)	single nucleotide variant	not specified [RCV004501684]	Chr9:35869837 [GRCh38] Chr9:35869834 [GRCh37] Chr9:9p13.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	286
Count of miRNA genes:	267
Interacting mature miRNAs:	283
Transcripts:	ENST00000377981
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

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
814	1921	2449	1883	4399	1041	1319	336	510	196	1651	4601	4172	6	3525	575	1477	871	142

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001004487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF399603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY726589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136715	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471071	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS248084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000377981 ⟹ ENSP00000367219

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	35,869,463 - 35,870,401 (-)	Ensembl

RefSeq Acc Id:

NM_001004487 ⟹ NP_001004487

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	35,869,463 - 35,870,401 (-)	NCBI
GRCh37	9	35,869,460 - 35,870,398 (-)	RGD
Build 36	9	35,859,460 - 35,860,398 (-)	NCBI Archive
Celera	9	35,803,004 - 35,803,942 (-)	RGD
HuRef	9	35,825,475 - 35,826,413 (-)	ENTREZGENE
CHM1_1	9	35,869,858 - 35,870,796 (-)	NCBI
T2T-CHM13v2.0	9	35,890,151 - 35,891,089 (-)	NCBI

Sequence:

show sequence

ATGGAGCCGCTCAACAGAACAGAGGTGTCCGAGTTCTTTCTGAAAGGATTTTCTGGCTACCCAG
CCCTGGAGCATCTGCTCTTCCCTCTGTGCTCAGCCATGTACCTGGTGACCCTCCTGGGGAACAC
AGCCATCATGGCGGTGAGCGTGCTAGATATCCACCTGCACACGCCCGTGTACTTCTTCCTGGGC
AACCTCTCTACCCTGGACATCTGCTACACGCCCACCTTTGTGCCTCTGATGCTGGTCCACCTCC
TGTCATCCCGGAAGACCATCTCCTTTGCTGTCTGTGCCATCCAGATGTGTCTGAGCCTGTCCAC
GGGCTCCACGGAGTGCCTGCTACTGGCCATCACGGCCTATGACCGCTACCTGGCCATCTGCCAG
CCACTCAGGTACCACGTGCTCATGAGCCACCGGCTCTGCGTGCTGCTGATGGGAGCTGCCTGGG
TCCTCTGCCTCCTCAAGTCGGTGACTGAGATGGTCATCTCCATGAGGCTGCCCTTCTGTGGCCA
CCACGTGGTCAGTCACTTCACCTGCAAGATCCTGGCAGTGCTGAAGCTGGCATGCGGCAACACG
TCGGTCAGCGAAGACTTCCTGCTGGCGGGCTCCATCCTGCTGCTGCCTGTACCCCTGGCATTCA
TCTGCCTGTCCTACTTGCTCATCCTGGCCACCATCCTGAGGGTGCCCTCGGCCGCCAGGTGCTG
CAAAGCCTTCTCCACCTGCTTGGCACACCTGGCTGTAGTGCTGCTTTTCTACGGCACCATCATC
TTCATGTACTTGAAGCCCAAGAGTAAGGAAGCCCACATCTCTGATGAGGTCTTCACAGTCCTCT
ATGCCATGGTCACGACCATGCTGAACCCCACCATCTACAGCCTGAGGAACAAGGAGGTGAAGGA
GGCCGCCAGGAAGGTGTGGGGCAGGAGTCGGGCCTCCAGGTGA

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Protein Sequences


Protein RefSeqs	NP_001004487	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI36716	(Get FASTA)	NCBI Sequence Viewer
	AAI36717	(Get FASTA)	NCBI Sequence Viewer
	AAK95088	(Get FASTA)	NCBI Sequence Viewer
	ALI87372	(Get FASTA)	NCBI Sequence Viewer
	BAC05928	(Get FASTA)	NCBI Sequence Viewer
	CAJ56569	(Get FASTA)	NCBI Sequence Viewer
	DAA04840	(Get FASTA)	NCBI Sequence Viewer
	EAW58323	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000367219
	ENSP00000367219.2
GenBank Protein	Q8NGT2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001004487 ⟸ NM_001004487

- UniProtKB:

Q96R40 (UniProtKB/Swiss-Prot), Q8NGT2 (UniProtKB/Swiss-Prot), Q6IF20 (UniProtKB/Swiss-Prot), B2RN66 (UniProtKB/Swiss-Prot), A0A126GVC0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MEPLNRTEVSEFFLKGFSGYPALEHLLFPLCSAMYLVTLLGNTAIMAVSVLDIHLHTPVYFFLG
NLSTLDICYTPTFVPLMLVHLLSSRKTISFAVCAIQMCLSLSTGSTECLLLAITAYDRYLAICQ
PLRYHVLMSHRLCVLLMGAAWVLCLLKSVTEMVISMRLPFCGHHVVSHFTCKILAVLKLACGNT
SVSEDFLLAGSILLLPVPLAFICLSYLLILATILRVPSAARCCKAFSTCLAHLAVVLLFYGTII
FMYLKPKSKEAHISDEVFTVLYAMVTTMLNPTIYSLRNKEVKEAARKVWGRSRASR

hide sequence

Ensembl Acc Id:

ENSP00000367219 ⟸ ENST00000377981

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NGT2-F1-model_v2	AlphaFold	Q8NGT2	1-312	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15108	AgrOrtholog
COSMIC	OR13J1	COSMIC
Ensembl Genes	ENSG00000168828	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000377981	ENTREZGENE
	ENST00000377981.4	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000168828	GTEx
HGNC ID	HGNC:15108	ENTREZGENE
Human Proteome Map	OR13J1	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:392309	UniProtKB/Swiss-Prot
NCBI Gene	OR13J1	ENTREZGENE
PANTHER	OLFACTORY RECEPTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OLFACTORY RECEPTOR 13J1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	7tm_4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA32049	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	A0A126GVC0	ENTREZGENE, UniProtKB/TrEMBL
	B2RN66	ENTREZGENE
	O13J1_HUMAN	UniProtKB/Swiss-Prot
	Q6IF20	ENTREZGENE
	Q8NGT2	ENTREZGENE
	Q96R40	ENTREZGENE
UniProt Secondary	B2RN66	UniProtKB/Swiss-Prot
	Q6IF20	UniProtKB/Swiss-Prot
	Q96R40	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	OR13J1	olfactory receptor family 13 subfamily J member 1	OR13J1	olfactory receptor, family 13, subfamily J, member 1	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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