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Gene: OR52B4 (olfactory receptor family 52 subfamily B member 4) Homo sapiens

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Symbol:

OR52B4

Name:

olfactory receptor family 52 subfamily B member 4

RGD ID:

1316140

HGNC Page

HGNC:15209

Description:

Predicted to enable olfactory receptor activity. Involved in cognition. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

olfactory receptor 52B4; olfactory receptor family 52 subfamily B member 4 (gene/pseudogene); olfactory receptor OR11-3; olfactory receptor, family 52, subfamily B, member 4; OR11-3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	4,367,263 - 4,368,386 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	4,367,263 - 4,368,386 (-)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	11	4,388,493 - 4,389,616 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	4,345,157 - 4,346,101 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	11	4,345,156 - 4,346,101	NCBI
Celera	11	4,512,675 - 4,513,798 (-)	NCBI		Celera
Cytogenetic Map	11	p15.4	NCBI
HuRef	11	4,046,737 - 4,047,860 (-)	NCBI		HuRef
CHM1_1	11	4,388,404 - 4,389,527 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	4,432,365 - 4,433,487 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

CGP 52608 (EXP)

disodium selenite (EXP)

epoxiconazole (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cognition (IMP)

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

G protein-coupled receptor signaling pathway (IEA)

nervous system process (IEA)

signal transduction (IEA)

Cellular Component

membrane (IEA)

plasma membrane (IBA,IEA)

Molecular Function

G protein-coupled receptor activity (IEA)

olfactory receptor activity (IBA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14983052	PMID:16939646	PMID:20677014	PMID:21873635	PMID:22908908	PMID:23227193	PMID:27892514

Genomics

Comparative Map Data

OR52B4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	4,367,263 - 4,368,386 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	4,367,263 - 4,368,386 (-)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	11	4,388,493 - 4,389,616 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	4,345,157 - 4,346,101 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	11	4,345,156 - 4,346,101	NCBI
Celera	11	4,512,675 - 4,513,798 (-)	NCBI		Celera
Cytogenetic Map	11	p15.4	NCBI
HuRef	11	4,046,737 - 4,047,860 (-)	NCBI		HuRef
CHM1_1	11	4,388,404 - 4,389,527 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	4,432,365 - 4,433,487 (-)	NCBI		T2T-CHM13v2.0

Or52b4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	102,183,956 - 102,184,895 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	102,183,956 - 102,184,891 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	7	102,534,749 - 102,535,688 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	102,534,749 - 102,535,684 (+)	Ensembl		GRCm38.p6 Ensembl	mm10	GRCm38
MGSCv37	7	109,683,263 - 109,684,202 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	7	102,408,570 - 102,409,509 (+)	NCBI		MGSCv36	mm8
Celera	7	102,902,348 - 102,903,292 (+)	NCBI		Celera
Cytogenetic Map	7	E3	NCBI
cM Map	7	54.75	NCBI

Or52b4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	166,351,005 - 166,351,946 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	1	166,351,005 - 166,351,946 (+)	Ensembl				GRCr8
mRatBN7.2	1	156,939,068 - 156,940,009 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	156,939,068 - 156,940,009 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	1	164,916,892 - 164,917,833 (+)	NCBI	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	172,096,967 - 172,097,908 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	164,995,705 - 165,003,191 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0
Dahl_SR_JrHsd	1	165,338,386 - 165,345,986 (+)	NCBI
Lyon_Normotensive	1	170,327,652 - 170,335,252 (+)	NCBI
Lyon_Hypertensive	1	166,975,163 - 166,982,758 (+)	NCBI
F344_StmMcwi	1	165,555,229 - 165,555,534 (-)	NCBI
Rnor_6.0	1	167,660,313 - 167,661,254 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	167,660,313 - 167,661,254 (+)	Ensembl		Rnor_6.0 Ensembl	rn6	Rnor6.0
Rnor_5.0	1	173,846,400 - 173,847,341 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	1	160,145,884 - 160,146,825 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	1	155,005,209 - 155,006,150 (+)	NCBI		Celera
RGSC_v3.1	1	160,224,900 - 160,225,842 (+)	NCBI
Cytogenetic Map	1	q32	NCBI

OR52B4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	26,720,442 - 26,721,404 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	26,720,460 - 26,721,404 (-)	Ensembl		CanFam3.1 Ensembl	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	26,489,318 - 26,490,280 (-)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	26,951,666 - 26,952,628 (-)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	26,951,684 - 26,952,628 (-)	Ensembl				ROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.0	21	26,957,874 - 26,958,834 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	26,860,313 - 26,863,562 (-)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

LOC110255390
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	9	5,926,281 - 5,934,947 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

OR52B4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mChlSab1.0.hap1	1	67,696,920 - 67,698,040 (+)	NCBI		mChlSab1.0.hap1
Vero_WHO_p1.0	NW_023666043	63,433,917 - 63,435,085 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0
ChlSab1.1	1	62,474,299 - 62,477,028 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2

Variants

Variants in OR52B4
46 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000050927]	Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3	copy number gain	See cases [RCV000053616]	Chr11:3745061..7846057 [GRCh38] Chr11:3766291..7867604 [GRCh37] Chr11:3722867..7824180 [NCBI36] Chr11:11p15.4	pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3	copy number gain	See cases [RCV000053613]	Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13	pathogenic
NM_001005161.3(OR52B4):c.292C>T (p.Arg98Cys)	single nucleotide variant	Malignant melanoma [RCV000069353]	Chr11:4368004 [GRCh38] Chr11:4389234 [GRCh37] Chr11:4345810 [NCBI36] Chr11:11p15.4	not provided
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	copy number gain	See cases [RCV000133997]	Chr11:11p15.5-15.1	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000139987]	Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.4(chr11:4304835-4510624)x1	copy number loss	Specific learning disability [RCV000140826]	Chr11:11p15.4	uncertain significance
GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	copy number gain	Talipes equinovarus [RCV000141996]	Chr11:11p15.4	uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	copy number gain	See cases [RCV000142890]	Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1	copy number loss	Abnormal facial shape [RCV000240109]	Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	copy number gain	See cases [RCV000446036]	Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3	copy number gain	See cases [RCV000449417]	Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.4(chr11:4387760-4840438)x3	copy number gain	Muscular hypotonia [RCV000454235]	Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.4(chr11:4371631-5253127)	copy number gain	Abnormal esophagus morphology [RCV000416780]	Chr11:11p15.4	likely pathogenic
NM_001005161.3(OR52B4):c.121del (p.Leu41fs)	deletion	not specified [RCV000454876]	Chr11:4368175 [GRCh38] Chr11:4389405 [GRCh37] Chr11:11p15.4	benign
GRCh37/hg19 11p15.4(chr11:4364896-4926365)x3	copy number gain	See cases [RCV000510292]	Chr11:11p15.4	likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	Abnormality of the ear [RCV000511729]	Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	copy number gain	Expressive language delay [RCV000511398]	Chr11:11p15.4	likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000511561]	Chr11:11p15.5-12	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:11p15.5-q25	pathogenic
NM_001005161.3(OR52B4):c.481A>C (p.Ile161Leu)	single nucleotide variant	not specified [RCV004297155]	Chr11:4367815 [GRCh38] Chr11:4389045 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	copy number gain	Silver-Russell syndrome 1 [RCV000767567]	Chr11:11p15.5-15.3	pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	copy number gain	Hydronephrosis [RCV000512225]	Chr11:11p15.5-14.3	pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	copy number gain	Abnormal facial shape [RCV000512477]	Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	copy number gain	not provided [RCV000683369]	Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	copy number gain	not provided [RCV000683372]	Chr11:11p15.5-15.1	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.4(chr11:4387760-4415266)x1	copy number loss	not provided [RCV000749916]	Chr11:4387760..4415266 [GRCh37] Chr11:11p15.4	benign
GRCh37/hg19 11p15.4(chr11:4387760-4491786)x1	copy number loss	not provided [RCV000749917]	Chr11:4387760..4491786 [GRCh37] Chr11:11p15.4	benign
NM_001005161.3(OR52B4):c.850C>G (p.Leu284Val)	single nucleotide variant	not specified [RCV004299511]	Chr11:4367446 [GRCh38] Chr11:4388676 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.604T>A (p.Phe202Ile)	single nucleotide variant	not specified [RCV004318685]	Chr11:4367692 [GRCh38] Chr11:4388922 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.4(chr11:4384773-4681230)x3	copy number gain	not provided [RCV002472402]	Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	copy number gain	not provided [RCV001006372]	Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.4(chr11:4388904-4639840)x3	copy number gain	not provided [RCV001259588]	Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.4(chr11:4238630-4460261)x4	copy number gain	not provided [RCV001259590]	Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	copy number gain	Craniosynostosis [RCV001263222]	Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	copy number gain	Macroglossia [RCV001263059]	Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2	copy number gain	See cases [RCV001310286]	Chr11:10701..5080415 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	copy number gain	Not Provided [RCV001825269]	Chr11:11p15.5-15.4	not provided
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	copy number gain	see cases [RCV002286351]	Chr11:11p15.5-14.2	pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	deletion	THALASSEMIA, GAMMA-DELTA-BETA [RCV000015529]	Chr11:11p15.5-15.4	pathogenic
NM_001005161.3(OR52B4):c.344G>A (p.Gly115Glu)	single nucleotide variant	not specified [RCV004286699]	Chr11:4367952 [GRCh38] Chr11:4389182 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	copy number gain	not provided [RCV002472435]	Chr11:11p15.5-15.4	pathogenic
NM_001005161.3(OR52B4):c.623C>T (p.Thr208Met)	single nucleotide variant	not specified [RCV004095746]	Chr11:4367673 [GRCh38] Chr11:4388903 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.892A>C (p.Thr298Pro)	single nucleotide variant	not specified [RCV004094760]	Chr11:4367404 [GRCh38] Chr11:4388634 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.277G>A (p.Asp93Asn)	single nucleotide variant	not specified [RCV004200122]	Chr11:4368019 [GRCh38] Chr11:4389249 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.443T>G (p.Val148Gly)	single nucleotide variant	not specified [RCV004204537]	Chr11:4367853 [GRCh38] Chr11:4389083 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.547C>G (p.His183Asp)	single nucleotide variant	not specified [RCV004109639]	Chr11:4367749 [GRCh38] Chr11:4388979 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.700G>A (p.Asp234Asn)	single nucleotide variant	not specified [RCV004100675]	Chr11:4367596 [GRCh38] Chr11:4388826 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.716C>G (p.Ala239Gly)	single nucleotide variant	not specified [RCV004109640]	Chr11:4367580 [GRCh38] Chr11:4388810 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.168C>A (p.Ser56Arg)	single nucleotide variant	not specified [RCV004136316]	Chr11:4368128 [GRCh38] Chr11:4389358 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.65T>C (p.Leu22Pro)	single nucleotide variant	not specified [RCV004244428]	Chr11:4368231 [GRCh38] Chr11:4389461 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.803G>A (p.Arg268His)	single nucleotide variant	not specified [RCV004083015]	Chr11:4367493 [GRCh38] Chr11:4388723 [GRCh37] Chr11:11p15.4	likely benign
NM_001005161.3(OR52B4):c.661A>G (p.Met221Val)	single nucleotide variant	not specified [RCV004104899]	Chr11:4367635 [GRCh38] Chr11:4388865 [GRCh37] Chr11:11p15.4	likely benign
NM_001005161.3(OR52B4):c.79A>G (p.Met27Val)	single nucleotide variant	not specified [RCV004278547]	Chr11:4368217 [GRCh38] Chr11:4389447 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.734C>T (p.Ser245Phe)	single nucleotide variant	not specified [RCV004264960]	Chr11:4367562 [GRCh38] Chr11:4388792 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.179C>G (p.Pro60Arg)	single nucleotide variant	not specified [RCV006301625]	Chr11:4368117 [GRCh38] Chr11:4389347 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.425T>C (p.Leu142Pro)	single nucleotide variant	not specified [RCV005698016]	Chr11:4367871 [GRCh38] Chr11:4389101 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.246G>T (p.Gln82His)	single nucleotide variant	not specified [RCV005698017]	Chr11:4368050 [GRCh38] Chr11:4389280 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.358A>G (p.Met120Val)	single nucleotide variant	not specified [RCV005456503]	Chr11:4367938 [GRCh38] Chr11:4389168 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.118G>A (p.Ala40Thr)	single nucleotide variant	not specified [RCV005698015]	Chr11:4368178 [GRCh38] Chr11:4389408 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.671T>C (p.Leu224Pro)	single nucleotide variant	not specified [RCV005442558]	Chr11:4367625 [GRCh38] Chr11:4388855 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.306G>T (p.Gln102His)	single nucleotide variant	not specified [RCV006301624]	Chr11:4367990 [GRCh38] Chr11:4389220 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.397A>T (p.Arg133Trp)	single nucleotide variant	not specified [RCV006675481]	Chr11:4367899 [GRCh38] Chr11:4389129 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.913G>A (p.Val305Met)	single nucleotide variant	not specified [RCV006301622]	Chr11:4367383 [GRCh38] Chr11:4388613 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.380C>T (p.Ala127Val)	single nucleotide variant	not specified [RCV006301621]	Chr11:4367916 [GRCh38] Chr11:4389146 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.316A>T (p.Ile106Phe)	single nucleotide variant	not specified [RCV006301623]	Chr11:4367980 [GRCh38] Chr11:4389210 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.135C>G (p.Ser45Arg)	single nucleotide variant	not specified [RCV006674630]	Chr11:4368161 [GRCh38] Chr11:4389391 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.351G>C (p.Leu117Phe)	single nucleotide variant	not specified [RCV004350090]	Chr11:4367945 [GRCh38] Chr11:4389175 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.896A>G (p.Lys299Arg)	single nucleotide variant	not specified [RCV004350977]	Chr11:4367400 [GRCh38] Chr11:4388630 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.4(chr11:4376571-4623788)x3	copy number gain	not provided [RCV003484830]	Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	copy number gain	Russell-Silver syndrome [RCV003444025]	Chr11:11p15.5-15.4	pathogenic
NM_001005161.3(OR52B4):c.289G>T (p.Asp97Tyr)	single nucleotide variant	not specified [RCV004497242]	Chr11:4368007 [GRCh38] Chr11:4389237 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.779C>G (p.Thr260Arg)	single nucleotide variant	not specified [RCV004497244]	Chr11:4367517 [GRCh38] Chr11:4388747 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.263G>T (p.Trp88Leu)	single nucleotide variant	not specified [RCV004497240]	Chr11:4368033 [GRCh38] Chr11:4389263 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.268C>T (p.Arg90Cys)	single nucleotide variant	not specified [RCV004497241]	Chr11:4368028 [GRCh38] Chr11:4389258 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.847A>G (p.Ile283Val)	single nucleotide variant	not specified [RCV004497245]	Chr11:4367449 [GRCh38] Chr11:4388679 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.529C>G (p.Pro177Ala)	single nucleotide variant	not specified [RCV004497243]	Chr11:4367767 [GRCh38] Chr11:4388997 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.820A>T (p.Ile274Phe)	single nucleotide variant	not specified [RCV004646460]	Chr11:4367476 [GRCh38] Chr11:4388706 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.845G>A (p.Cys282Tyr)	single nucleotide variant	not specified [RCV004646459]	Chr11:4367451 [GRCh38] Chr11:4388681 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.458G>A (p.Arg153Lys)	single nucleotide variant	not specified [RCV004835879]	Chr11:4367838 [GRCh38] Chr11:4389068 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.337G>A (p.Glu113Lys)	single nucleotide variant	not specified [RCV004835877]	Chr11:4367959 [GRCh38] Chr11:4389189 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.781A>G (p.Ile261Val)	single nucleotide variant	not specified [RCV004835876]	Chr11:4367515 [GRCh38] Chr11:4388745 [GRCh37] Chr11:11p15.4	likely benign
NM_001005161.3(OR52B4):c.751A>G (p.Ile251Val)	single nucleotide variant	not specified [RCV004835874]	Chr11:4367545 [GRCh38] Chr11:4388775 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.851T>C (p.Leu284Pro)	single nucleotide variant	not specified [RCV004835875]	Chr11:4367445 [GRCh38] Chr11:4388675 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.620C>T (p.Ser207Leu)	single nucleotide variant	not specified [RCV004835880]	Chr11:4367676 [GRCh38] Chr11:4388906 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.409A>C (p.Ile137Leu)	single nucleotide variant	not specified [RCV004835878]	Chr11:4367887 [GRCh38] Chr11:4389117 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.293G>A (p.Arg98His)	single nucleotide variant	not specified [RCV005383560]	Chr11:4368003 [GRCh38] Chr11:4389233 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.466G>A (p.Gly156Ser)	single nucleotide variant	not specified [RCV005383561]	Chr11:4367830 [GRCh38] Chr11:4389060 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.94C>T (p.Pro32Ser)	single nucleotide variant	not specified [RCV005383558]	Chr11:4368202 [GRCh38] Chr11:4389432 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.164G>A (p.Arg55His)	single nucleotide variant	not specified [RCV005383562]	Chr11:4368132 [GRCh38] Chr11:4389362 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.355G>A (p.Val119Met)	single nucleotide variant	not specified [RCV005456505]	Chr11:4367941 [GRCh38] Chr11:4389171 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.103A>C (p.Ile35Leu)	single nucleotide variant	not specified [RCV005456504]	Chr11:4368193 [GRCh38] Chr11:4389423 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.4(chr11:3190132-4967363)x3	copy number gain	not specified [RCV005862130]	Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.862A>G (p.Met288Val)	single nucleotide variant	not specified [RCV005383563]	Chr11:4367434 [GRCh38] Chr11:4388664 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.810T>G (p.Ile270Met)	single nucleotide variant	not specified [RCV004647704]	Chr11:4367486 [GRCh38] Chr11:4388716 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.163C>T (p.Arg55Cys)	single nucleotide variant	not specified [RCV004647703]	Chr11:4368133 [GRCh38] Chr11:4389363 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.181A>G (p.Met61Val)	single nucleotide variant	not specified [RCV004835262]	Chr11:4368115 [GRCh38] Chr11:4389345 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.794G>A (p.Arg265Lys)	single nucleotide variant	not specified [RCV004835263]	Chr11:4367502 [GRCh38] Chr11:4388732 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001005161.3(OR52B4):c.192C>A (p.Phe64Leu)	single nucleotide variant	not specified [RCV005395254]	Chr11:4368104 [GRCh38] Chr11:4389334 [GRCh37] Chr11:11p15.4	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	88
Count of miRNA genes:	86
Interacting mature miRNAs:	88
Transcripts:	ENST00000408920
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
1558691	SCL8_H	Serum cholesterol level QTL 8 (human)	1.2		Lipid level	HDL cholesterol	11	1	5227071	Human
1559107	SCL32_H	Serum cholesterol level QTL 32 (human)	3.27		Lipid level	LDL cholesterol	11	2892430	28892430	Human
1559113	SCL31_H	Serum cholesterol level QTL 31 (human)	3.72		Lipid level	LDL cholesterol	11	2892430	28892430	Human

Markers in Region

OR52B4__5876

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,388,481 - 4,389,006	UniSTS	GRCh37
Build 36	11	4,345,057 - 4,345,582	RGD	NCBI36
Celera	11	4,512,663 - 4,513,188	RGD
HuRef	11	4,046,725 - 4,047,250	UniSTS

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
219	452	614	406	616	246	457	66	854	32	408	1707	1717	3	530	159	371	363	34

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001005161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_178069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065792	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC009758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC140928	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290532	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000624801 ⟹ ENSP00000485530

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	4,367,263 - 4,368,386 (-)	Ensembl

RefSeq Acc Id:

NM_001005161 ⟹ NP_001005161

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	4,367,263 - 4,368,386 (-)	NCBI
GRCh37	11	4,388,493 - 4,389,616 (-)	RGD
Build 36	11	4,345,157 - 4,346,101 (-)	NCBI Archive
Celera	11	4,512,675 - 4,513,798 (-)	RGD
HuRef	11	4,046,737 - 4,047,860 (-)	RGD
CHM1_1	11	4,388,404 - 4,389,527 (-)	NCBI
T2T-CHM13v2.0	11	4,432,365 - 4,433,487 (-)	NCBI

Sequence:

show sequence

AGCTCCTGGTGACATCGCAAAGAATGTTGCAGATTTTATCTTCTTCTACCTCTGTGAGTAGGAG
GTGAGGTTCTGAAAGTTCTCCCCAGCTATGCCTACTGTAAACCACAGTGGCACTAGCCACACAG
TCTTCCACTTGCTGGGCATCCCTGGCCTACAGGACCAGCACATGTGGATTTCTATCCCATTCTT
CATTTCCTATGTCACCGCCCTTCTTGGGAACAGCCTGCTCATCTTCATTATCCTCACAAAGCGC
AGCCTCCATGAACCCATGTACCTCTTCCTCTGCATGCTGGCTGGAGCAGACATTGTCCTCTCCA
CGTGCACCATTCCTCAGGCCTTAGCTATCTTCTGGTTCCGTGCTGGGGACATCTCCCTGGATCG
TTGCATCACTCAGCTCTTCTTCATCCATTCCACCTTCATCTCTGAGTCAGGGATCTTGCTGGTG
ATGGCCTTTGACCACTATATTGCCATATGCTACCCACTGAGGTACACCACCATTCTTACAAATG
CTCTGATCAAGAAAATTTGTGTGACTGTCTCTCTGAGAAGTTATGGTACAATTTTCCCTATCAT
ATTTCTTTTAAAAAGATTGACTTTCTGCCAGAATAATATTATTCCACACACCTTTTGTGAACAC
ATTGGCCTAGCCAAATATGCATGTAATGACATTCGAATAAACATTTGGTATGGGTTTTCCATTC
TAATGTCGACGGTGGTCTTAGATGTTGTACTAATTTTTATTTCCTATATGCTGATTCTCCATGC
TGTCTTCCACATGCCTTCTCCAGATGCTTGCCACAAAGCTCTCAACACATTTGGCTCCCATGTC
TGCATCATCATCCTCTTTTATGGGTCTGGCATCTTCACAATCCTTACCCAGAGGTTTGGACGCC
ACATTCCACCTTGTATCCACATCCCGTTGGCTAATGTCTGCATTCTGGCTCCACCTATGCTGAA
TCCCATTATTTATGGGATCAAAACCAAGCAAATCCAGGAACAGGTGGTTCAGTTTTTGTTTATA
AAACAGAAATAACTTTGGTTTAAGAACTGAGTTTTCAGAATCTCTAGCTATCTGGTAAGTGGGT
ATGAAAGTGGTAGATGGGAGAGGTCAGCTGATACCG

hide sequence

RefSeq Acc Id:

NR_178069

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	4,432,365 - 4,433,487 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001005161	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI40929	(Get FASTA)	NCBI Sequence Viewer
	ALI87693	(Get FASTA)	NCBI Sequence Viewer
	BAC06011	(Get FASTA)	NCBI Sequence Viewer
	DAA04654	(Get FASTA)	NCBI Sequence Viewer
	EAW68847	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000485530
	ENSP00000485530.1
GenBank Protein	Q8NGK2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001005161 ⟸ NM_001005161

- UniProtKB:

Q8NGK2 (UniProtKB/Swiss-Prot), Q6IFK6 (UniProtKB/Swiss-Prot), A6NP68 (UniProtKB/Swiss-Prot), B2RU22 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MPTVNHSGTSHTVFHLLGIPGLQDQHMWISIPFFISYVTALLGNSLLIFIILTKRSLHEPMYLF
LCMLAGADIVLSTCTIPQALAIFWFRAGDISLDRCITQLFFIHSTFISESGILLVMAFDHYIAI
CYPLRYTTILTNALIKKICVTVSLRSYGTIFPIIFLLKRLTFCQNNIIPHTFCEHIGLAKYACN
DIRINIWYGFSILMSTVVLDVVLIFISYMLILHAVFHMPSPDACHKALNTFGSHVCIIILFYGS
GIFTILTQRFGRHIPPCIHIPLANVCILAPPMLNPIIYGIKTKQIQEQVVQFLFIKQK

hide sequence

Ensembl Acc Id:

ENSP00000485530 ⟸ ENST00000624801

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NGK2-F1-model_v2	AlphaFold	Q8NGK2	1-314	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15209	AgrOrtholog
COSMIC	OR52B4	COSMIC
Ensembl Genes	ENSG00000221996	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000624801	ENTREZGENE
	ENST00000624801.3	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot
GTEx	ENSG00000221996	GTEx
HGNC ID	HGNC:15209	ENTREZGENE
Human Proteome Map	OR52B4	Human Proteome Map
InterPro	GPCR_Rhodpsn	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot
	Olfact_rcpt	UniProtKB/Swiss-Prot
	Olfactory_rcpt	UniProtKB/Swiss-Prot
KEGG Report	hsa:143496	UniProtKB/Swiss-Prot
NCBI Gene	OR52B4	ENTREZGENE
PANTHER	OLFACTORY RECEPTOR 52B4	UniProtKB/Swiss-Prot
	OLFACTORY RECEPTOR 56B1-RELATED	UniProtKB/Swiss-Prot
Pfam	7tm_4	UniProtKB/Swiss-Prot
PharmGKB	PA32398	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot
	OLFACTORYR	UniProtKB/Swiss-Prot
PROSITE	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot
UniProt	A6NP68	ENTREZGENE
	B2RU22	ENTREZGENE, UniProtKB/TrEMBL
	O52B4_HUMAN	UniProtKB/Swiss-Prot
	Q6IFK6	ENTREZGENE
	Q8NGK2	ENTREZGENE
UniProt Secondary	A6NP68	UniProtKB/Swiss-Prot
	Q6IFK6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-05-11	OR52B4	olfactory receptor family 52 subfamily B member 4	OR52B4	olfactory receptor family 52 subfamily B member 4 (gene/pseudogene)	Symbol and/or name change	19259463	PROVISIONAL
2015-12-15	OR52B4	olfactory receptor family 52 subfamily B member 4 (gene/pseudogene)	OR52B4	olfactory receptor, family 52, subfamily B, member 4 (gene/pseudogene)	Symbol and/or name change	5135510	APPROVED
2015-01-20	OR52B4	olfactory receptor, family 52, subfamily B, member 4 (gene/pseudogene)	OR52B4	olfactory receptor, family 52, subfamily B, member 4	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)

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