OR2G3 (olfactory receptor family 2 subfamily G member 3)

Gene: OR2G3 (olfactory receptor family 2 subfamily G member 3) Homo sapiens

Analyze

Symbol:

OR2G3

Name:

olfactory receptor family 2 subfamily G member 3

RGD ID:

1343786

HGNC Page

HGNC:15008

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:

PROVISIONAL

Previously known as:

olfactory receptor 2G3; olfactory receptor OR1-33; olfactory receptor, family 2, subfamily G, member 3; OR1-33

RGD Orthologs

Alliance Genes

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	1	247,605,586 - 247,606,515 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	247,605,586 - 247,606,515 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	247,768,888 - 247,769,817 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	245,835,511 - 245,836,440 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	244,094,928 - 244,095,858	NCBI
Celera	1	221,067,685 - 221,068,614 (+)	NCBI		Celera
Cytogenetic Map	1	q44	NCBI
HuRef	1	218,163,051 - 218,163,980 (+)	NCBI		HuRef
CHM1_1	1	249,041,244 - 249,042,173 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	247,042,412 - 247,043,341 (+)	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

Cryopyrin-Associated Periodic Syndromes (IAGP)

developmental and epileptic encephalopathy 54 (IAGP)

gastrointestinal stromal tumor (IAGP)

genetic disease (IAGP)

parathyroid carcinoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

benzo[a]pyrene (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)

signal transduction (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:12477932	PMID:14983052	PMID:16710414	PMID:21873635

Genomics

Comparative Map Data

OR2G3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	247,605,586 - 247,606,515 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	247,605,586 - 247,606,515 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	247,768,888 - 247,769,817 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	245,835,511 - 245,836,440 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	244,094,928 - 244,095,858	NCBI
Celera	1	221,067,685 - 221,068,614 (+)	NCBI		Celera
Cytogenetic Map	1	q44	NCBI
HuRef	1	218,163,051 - 218,163,980 (+)	NCBI		HuRef
CHM1_1	1	249,041,244 - 249,042,173 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	247,042,412 - 247,043,341 (+)	NCBI		T2T-CHM13v2.0

Or2g25
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	37,970,269 - 37,971,222 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	37,968,491 - 37,974,673 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	37,659,378 - 37,660,331 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	37,657,600 - 37,663,782 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	37,796,323 - 37,797,276 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	37,267,431 - 37,268,384 (-)	NCBI		MGSCv36	mm8
Celera	17	41,101,397 - 41,102,350 (-)	NCBI		Celera
Cytogenetic Map	17	B1	NCBI
cM Map	17	19.16	NCBI

Or2g25
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	816,136 - 817,089 (+)	NCBI		GRCr8
mRatBN7.2	20	810,880 - 811,833 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	807,707 - 815,510 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	817,806 - 818,759 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	821,252 - 822,205 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	744,661 - 745,614 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	1,110,773 - 1,111,726 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	1,110,773 - 1,111,726 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	1,108,083 - 1,109,036 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	769,684 - 770,637 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	769,683 - 770,637 (+)	NCBI
Celera	20	1,578,396 - 1,579,349 (+)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

LOC100981066
(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	1	1,451,475 - 1,452,404 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	1,725,448 - 1,726,377 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	223,239,171 - 223,240,150 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	228,691,062 - 228,692,041 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	228,691,088 - 228,692,017 (+)	Ensembl	panpan1.1		panPan2

LOC100516421
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	56,615,141 - 56,616,070 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	56,615,126 - 56,616,070 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	57,551,726 - 57,552,670 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LOC103230946
(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	25	84,646,097 - 84,649,002 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	25	84,647,009 - 84,647,935 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666055	87,062,415 - 87,063,671 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in OR2G3
18 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	copy number gain	See cases [RCV000050981]	Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44	pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	copy number gain	See cases [RCV000050581]	Chr1:223347693..248918469 [GRCh38] Chr1:223521035..249212668 [GRCh37] Chr1:221587658..247179291 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]\|See cases [RCV000051875]	Chr1:221902539..248918469 [GRCh38] Chr1:222075881..249212668 [GRCh37] Chr1:220142504..247179291 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	copy number gain	See cases [RCV000051878]	Chr1:223828500..248891309 [GRCh38] Chr1:224016202..249185508 [GRCh37] Chr1:222082825..247152131 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	copy number gain	See cases [RCV000051880]	Chr1:223887780..248891309 [GRCh38] Chr1:224075482..249185508 [GRCh37] Chr1:222142105..247152131 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	copy number gain	See cases [RCV000051882]	Chr1:224096488..248918469 [GRCh38] Chr1:224284190..249212668 [GRCh37] Chr1:222350813..247179291 [NCBI36] Chr1:1q42.11-44	pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	copy number gain	See cases [RCV000051861]	Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44	pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]\|See cases [RCV000051883]	Chr1:236237049..248918469 [GRCh38] Chr1:236400349..249212668 [GRCh37] Chr1:234466972..247179291 [NCBI36] Chr1:1q42.3-44	pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3	copy number gain	See cases [RCV000051886]	Chr1:239657468..248918610 [GRCh38] Chr1:239820768..249212809 [GRCh37] Chr1:237887391..247179432 [NCBI36] Chr1:1q43-44	pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	copy number gain	See cases [RCV000051888]	Chr1:240244444..248891309 [GRCh38] Chr1:240407744..249185508 [GRCh37] Chr1:238474367..247152131 [NCBI36] Chr1:1q43-44	pathogenic
GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	copy number gain	See cases [RCV000053504]	Chr1:242828731..248891309 [GRCh38] Chr1:242992033..249185508 [GRCh37] Chr1:241058656..247152131 [NCBI36] Chr1:1q43-44	pathogenic
GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]\|See cases [RCV000053506]	Chr1:243055227..248918469 [GRCh38] Chr1:243218529..249212668 [GRCh37] Chr1:241285152..247179291 [NCBI36] Chr1:1q43-44	pathogenic
GRCh38/hg38 1q44(chr1:246386899-248918469)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(chr1:241459440-247704671)x1	copy number loss	See cases [RCV000054026]	Chr1:241459440..247704671 [GRCh38] Chr1:241622740..247867973 [GRCh37] Chr1:239689363..245934596 [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_001001914.1(OR2G3):c.339C>T (p.Ile113=)	single nucleotide variant	Malignant melanoma [RCV000064637]	Chr1:247605924 [GRCh38] Chr1:247769226 [GRCh37] Chr1:245835849 [NCBI36] Chr1:1q44	not provided
NM_001001914.1(OR2G3):c.920G>A (p.Gly307Glu)	single nucleotide variant	Malignant melanoma [RCV000064638]	Chr1:247606505 [GRCh38] Chr1:247769807 [GRCh37] Chr1:245836430 [NCBI36] Chr1:1q44	not provided
GRCh38/hg38 1q44(chr1:245312815-248918469)x3	copy number gain	See cases [RCV000133864]	Chr1:245312815..248918469 [GRCh38] Chr1:245476117..249212668 [GRCh37] Chr1:243542740..247179291 [NCBI36] Chr1:1q44	pathogenic
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	copy number loss	See cases [RCV000134751]	Chr1:238753749..248918467 [GRCh38] Chr1:238917049..249212666 [GRCh37] Chr1:236983672..247179289 [NCBI36] Chr1:1q43-44	pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	copy number loss	See cases [RCV000134172]	Chr1:238351121..248918469 [GRCh38] Chr1:238514421..249212668 [GRCh37] Chr1:236581044..247179291 [NCBI36] Chr1:1q43-44	pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	copy number gain	See cases [RCV000134979]	Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44	pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	copy number gain	See cases [RCV000135839]	Chr1:223815147..248918469 [GRCh38] Chr1:224002849..249212668 [GRCh37] Chr1:222069472..247179291 [NCBI36] Chr1:1q41-44	pathogenic
GRCh38/hg38 1q44(chr1:247532391-247897117)x3	copy number gain	See cases [RCV000135873]	Chr1:247532391..247897117 [GRCh38] Chr1:247695693..248060419 [GRCh37] Chr1:245762316..246127042 [NCBI36] Chr1:1q44	benign
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 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 1q42.11-44(chr1:224022862-248918469)x3	copy number gain	See cases [RCV000137769]	Chr1:224022862..248918469 [GRCh38] Chr1:224210564..249212668 [GRCh37] Chr1:222277187..247179291 [NCBI36] Chr1:1q42.11-44	pathogenic
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	copy number loss	See cases [RCV000139889]	Chr1:242045279..248930485 [GRCh38] Chr1:242208581..249224684 [GRCh37] Chr1:240275204..247191307 [NCBI36] Chr1:1q43-44	pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	copy number loss	See cases [RCV000140039]	Chr1:238033575..248924534 [GRCh38] Chr1:238196875..249218733 [GRCh37] Chr1:236263498..247185356 [NCBI36] Chr1:1q43-44	pathogenic
GRCh38/hg38 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 1q44(chr1:244281222-247789907)x3	copy number gain	See cases [RCV000511438]	Chr1:244281222..247789907 [GRCh37] Chr1:1q44	uncertain significance
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	copy number gain	See cases [RCV000510981]	Chr1:224105294..249224684 [GRCh37] Chr1:1q42.11-44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q44(chr1:246753355-249224684)x3	copy number gain	See cases [RCV000512337]	Chr1:246753355..249224684 [GRCh37] Chr1:1q44	uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	copy number gain	not provided [RCV000684700]	Chr1:218252551..249224684 [GRCh37] Chr1:1q41-44	pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	copy number gain	not provided [RCV000684707]	Chr1:228529973..249181598 [GRCh37] Chr1:1q42.13-44	pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	copy number loss	not provided [RCV000684716]	Chr1:241051170..249224684 [GRCh37] Chr1:1q43-44	pathogenic
GRCh37/hg19 1q44(chr1:244797639-249224684)x1	copy number loss	not provided [RCV000684725]	Chr1:244797639..249224684 [GRCh37] Chr1:1q44	pathogenic
GRCh37/hg19 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(chr1:247297502-248016894)x3	copy number gain	not provided [RCV000736948]	Chr1:247297502..248016894 [GRCh37] Chr1:1q44	benign
GRCh37/hg19 1q44(chr1:247710624-248142049)x1	copy number loss	not provided [RCV000736952]	Chr1:247710624..248142049 [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(chr1:246784899-248016894)x3	copy number gain	not provided [RCV000749433]	Chr1:246784899..248016894 [GRCh37] Chr1:1q44	likely benign
GRCh37/hg19 1q44(chr1:246810698-248016894)x3	copy number gain	not provided [RCV000749434]	Chr1:246810698..248016894 [GRCh37] Chr1:1q44	uncertain significance
GRCh37/hg19 1q44(chr1:245341153-249212429)	copy number loss	not provided [RCV000767543]	Chr1:245341153..249212429 [GRCh37] Chr1:1q44	likely pathogenic
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	copy number gain	not provided [RCV000849904]	Chr1:238669293..249224684 [GRCh37] Chr1:1q43-44	pathogenic
GRCh37/hg19 1q44(chr1:246565044-249224684)x1	copy number loss	not provided [RCV000848153]	Chr1:246565044..249224684 [GRCh37] Chr1:1q44	pathogenic
GRCh37/hg19 1q44(chr1:247561707-247916265)x3	copy number gain	not provided [RCV000849769]	Chr1:247561707..247916265 [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 1q44(chr1:247576587-248688602)x4	copy number gain	not provided [RCV000849147]	Chr1:247576587..248688602 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.61C>T (p.Pro21Ser)	single nucleotide variant	not provided [RCV000959531]	Chr1:247605646 [GRCh38] Chr1:247768948 [GRCh37] Chr1:1q44	benign
GRCh37/hg19 1q44(chr1:247032527-248071583)x3	copy number gain	not provided [RCV000846241]	Chr1:247032527..248071583 [GRCh37] Chr1:1q44	uncertain significance
GRCh37/hg19 1q44(chr1:244379481-249224684)x1	copy number loss	not provided [RCV000845861]	Chr1:244379481..249224684 [GRCh37] Chr1:1q44	pathogenic
NM_001001914.1(OR2G3):c.364C>T (p.Arg122Trp)	single nucleotide variant	Inborn genetic diseases [RCV003239466]	Chr1:247605949 [GRCh38] Chr1:247769251 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.538G>A (p.Glu180Lys)	single nucleotide variant	not provided [RCV000955901]	Chr1:247606123 [GRCh38] Chr1:247769425 [GRCh37] Chr1:1q44	benign
GRCh37/hg19 1q44(chr1:247671905-247981897)x1	copy number loss	not provided [RCV002473440]	Chr1:247671905..247981897 [GRCh37] Chr1:1q44	uncertain significance
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 1q32.2-44(chr1:210152794-249218992)x3	copy number gain	See cases [RCV001194578]	Chr1:210152794..249218992 [GRCh37] Chr1:1q32.2-44	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
NC_000001.10:g.(?_247599252)_(248059833_?)dup	duplication	Cryopyrin associated periodic syndrome [RCV001920559]	Chr1:247599252..248059833 [GRCh37] Chr1:1q44	uncertain significance
GRCh37/hg19 1q44(chr1:246850401-249205263)x3	copy number gain	See cases [RCV002292210]	Chr1:246850401..249205263 [GRCh37] Chr1:1q44	pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	copy number gain	See cases [RCV002287837]	Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44	pathogenic
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	copy number loss	See cases [RCV002292708]	Chr1:233012994..249206918 [GRCh37] Chr1:1q42.2-44	pathogenic
GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	copy number gain	not provided [RCV002472628]	Chr1:243258050..249224684 [GRCh37] Chr1:1q43-44	pathogenic
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	copy number loss	not provided [RCV002474504]	Chr1:239910960..249224684 [GRCh37] Chr1:1q43-44	pathogenic
GRCh37/hg19 1q44(chr1:247588318-248022379)x3	copy number gain	not provided [RCV002473513]	Chr1:247588318..248022379 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.272C>T (p.Thr91Met)	single nucleotide variant	Inborn genetic diseases [RCV002682984]	Chr1:247605857 [GRCh38] Chr1:247769159 [GRCh37] Chr1:1q44	uncertain significance
Single allele	deletion	Developmental and epileptic encephalopathy, 54 [RCV002481171]	Chr1:242045197..249212668 [GRCh37] Chr1:1q43-44	likely pathogenic
NM_001001914.1(OR2G3):c.233C>T (p.Ala78Val)	single nucleotide variant	Inborn genetic diseases [RCV002969375]	Chr1:247605818 [GRCh38] Chr1:247769120 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.640A>G (p.Ile214Val)	single nucleotide variant	Inborn genetic diseases [RCV002902523]	Chr1:247606225 [GRCh38] Chr1:247769527 [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
NM_001001914.1(OR2G3):c.227G>C (p.Ser76Thr)	single nucleotide variant	Inborn genetic diseases [RCV002660177]	Chr1:247605812 [GRCh38] Chr1:247769114 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.40C>G (p.Leu14Val)	single nucleotide variant	Inborn genetic diseases [RCV002660942]	Chr1:247605625 [GRCh38] Chr1:247768927 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.800C>T (p.Ala267Val)	single nucleotide variant	Inborn genetic diseases [RCV002987606]	Chr1:247606385 [GRCh38] Chr1:247769687 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.710C>G (p.Ala237Gly)	single nucleotide variant	Inborn genetic diseases [RCV002655134]	Chr1:247606295 [GRCh38] Chr1:247769597 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.161C>T (p.Pro54Leu)	single nucleotide variant	Inborn genetic diseases [RCV002656040]	Chr1:247605746 [GRCh38] Chr1:247769048 [GRCh37] Chr1:1q44	likely benign
NM_001001914.1(OR2G3):c.737C>G (p.Thr246Arg)	single nucleotide variant	Inborn genetic diseases [RCV003202629]	Chr1:247606322 [GRCh38] Chr1:247769624 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.829T>G (p.Phe277Val)	single nucleotide variant	Inborn genetic diseases [RCV003204915]	Chr1:247606414 [GRCh38] Chr1:247769716 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.283G>A (p.Gly95Ser)	single nucleotide variant	Inborn genetic diseases [RCV003175768]	Chr1:247605868 [GRCh38] Chr1:247769170 [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
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_001001914.1(OR2G3):c.502C>T (p.Leu168Phe)	single nucleotide variant	Inborn genetic diseases [RCV003344986]	Chr1:247606087 [GRCh38] Chr1:247769389 [GRCh37] Chr1:1q44	uncertain significance
NM_001001914.1(OR2G3):c.890T>C (p.Met297Thr)	single nucleotide variant	Inborn genetic diseases [RCV003352569]	Chr1:247606475 [GRCh38] Chr1:247769777 [GRCh37] Chr1:1q44	uncertain significance
GRCh37/hg19 1q44(chr1:246983973-249224684)x1	copy number loss	not provided [RCV003484177]	Chr1:246983973..249224684 [GRCh37] Chr1:1q44	uncertain significance
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	copy number gain	not provided [RCV003484052]	Chr1:229373250..249206595 [GRCh37] Chr1:1q42.13-44	pathogenic
GRCh37/hg19 1q44(chr1:247755802-248142441)x1	copy number loss	not provided [RCV003484199]	Chr1:247755802..248142441 [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

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	63
Count of miRNA genes:	63
Interacting mature miRNAs:	63
Transcripts:	ENST00000320002
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

	alimentary part of gastrointestinal system	circulatory system	endocrine system	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	adipose tissue	appendage
High
Medium
Low	1				2		1		1		12	2			1
Below cutoff	113	60	22	6	65	4	91	73	82	14	303	37	2	29	58

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001001914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065622	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL606804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004417	(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
	CS248398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290377	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000320002 ⟹ ENSP00000326301

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	247,605,586 - 247,606,515 (+)	Ensembl

RefSeq Acc Id:

NM_001001914 ⟹ NP_001001914

RefSeq Status:

PROVISIONAL

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	247,605,586 - 247,606,515 (+)	NCBI
GRCh37	1	247,768,888 - 247,769,817 (+)	RGD
Build 36	1	245,835,511 - 245,836,440 (+)	NCBI Archive
Celera	1	221,067,685 - 221,068,614 (+)	RGD
HuRef	1	218,163,051 - 218,163,980 (+)	RGD
CHM1_1	1	249,041,244 - 249,042,173 (+)	NCBI
T2T-CHM13v2.0	1	247,042,412 - 247,043,341 (+)	NCBI

Sequence:

show sequence

ATGGGATTGGGCAATGAGAGTTCCCTAATGGATTTCATCCTTCTAGGCTTCTCAGACCACCCTC
GTCTGGAGGCTGTTCTCTTTGTATTTGTCCTTTTCTTCTACCTCCTGACCCTTGTGGGAAACTT
CACCATAATCATCATCTCATATCTGGATCCCCCTCTTCATACCCCAATGTACTTTTTTCTCAGC
AACCTCTCTTTACTGGACATCTGCTTCACTACTAGCCTTGCTCCTCAGACCTTAGTTAACTTGC
AAAGACCAAAGAAGACGATCACTTACGGTGGTTGTGTGGCGCAACTCTATATTTCTCTGGCACT
GGGCTCCACTGAATGTATCCTCTTGGCTGACATGGCCTTGGATCGGTACATTGCTGTCTGCAAA
CCCCTCCACTATGTAGTCATCATGAACCCACGGCTTTGCCAACAGCTGGCATCTATCTCCTGGC
TCAGTGGTTTGGCTAGTTCCCTAATCCATGCAACTTTTACCTTGCAATTGCCTCTCTGTGGCAA
CCATAGGCTGGACCATTTTATTTGCGAAGTACCAGCTCTTCTCAAGTTGGCTTGTGTGGACACC
ACTGTCAATGAATTGGTGCTTTTTGTTGTTAGTGTTCTGTTTGTTGTCATTCCACCAGCACTCA
TCTCCATCTCCTATGGCTTCATAACTCAAGCTGTGCTGAGGATCAAATCAGTAGAGGCAAGGCA
CAAAGCCTTCAGCACCTGCTCCTCCCACCTTACAGTGGTGATTATATTCTATGGCACCATAATC
TACGTGTACCTGCAACCTAGTGACAGCTATGCCCAGGACCAAGGGAAGTTTATCTCCCTCTTCT
ACACCATGGTGACCCCCACTTTAAATCCTATCATCTATACTTTAAGGAACAAGGATATGAAAGA
GGCTCTGAGGAAACTTCTCTCGGGAAAATTGTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001001914	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI36713	(Get FASTA)	NCBI Sequence Viewer
	AAI36714	(Get FASTA)	NCBI Sequence Viewer
	ALI87550	(Get FASTA)	NCBI Sequence Viewer
	ALI87579	(Get FASTA)	NCBI Sequence Viewer
	BAC05848	(Get FASTA)	NCBI Sequence Viewer
	CAJ56719	(Get FASTA)	NCBI Sequence Viewer
	DAA04815	(Get FASTA)	NCBI Sequence Viewer
	EAW77196	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000326301
	ENSP00000326301.2
GenBank Protein	Q8NGZ4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001001914 ⟸ NM_001001914

- UniProtKB:

Q5JQT1 (UniProtKB/Swiss-Prot), B2RN64 (UniProtKB/Swiss-Prot), Q6IF45 (UniProtKB/Swiss-Prot), Q8NGZ4 (UniProtKB/Swiss-Prot), A0A126GVX0 (UniProtKB/TrEMBL), A0A126GVV3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MGLGNESSLMDFILLGFSDHPRLEAVLFVFVLFFYLLTLVGNFTIIIISYLDPPLHTPMYFFLS
NLSLLDICFTTSLAPQTLVNLQRPKKTITYGGCVAQLYISLALGSTECILLADMALDRYIAVCK
PLHYVVIMNPRLCQQLASISWLSGLASSLIHATFTLQLPLCGNHRLDHFICEVPALLKLACVDT
TVNELVLFVVSVLFVVIPPALISISYGFITQAVLRIKSVEARHKAFSTCSSHLTVVIIFYGTII
YVYLQPSDSYAQDQGKFISLFYTMVTPTLNPIIYTLRNKDMKEALRKLLSGKL

hide sequence

RefSeq Acc Id:

ENSP00000326301 ⟸ ENST00000320002

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NGZ4-F1-model_v2	AlphaFold	Q8NGZ4	1-309	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15008	AgrOrtholog
COSMIC	OR2G3	COSMIC
Ensembl Genes	ENSG00000177476	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000320002	ENTREZGENE
	ENST00000320002.3	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000177476	GTEx
HGNC ID	HGNC:15008	ENTREZGENE
Human Proteome Map	OR2G3	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:81469	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	81469	ENTREZGENE
PANTHER	OLFACTORY RECEPTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OLFACTORY RECEPTOR 2G3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	7tm_4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA32160	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	A0A126GVV3	ENTREZGENE, UniProtKB/TrEMBL
	A0A126GVX0	ENTREZGENE, UniProtKB/TrEMBL
	B2RN64	ENTREZGENE
	OR2G3_HUMAN	UniProtKB/Swiss-Prot
	Q5JQT1	ENTREZGENE
	Q6IF45	ENTREZGENE
	Q8NGZ4	ENTREZGENE
UniProt Secondary	B2RN64	UniProtKB/Swiss-Prot
	Q5JQT1	UniProtKB/Swiss-Prot
	Q6IF45	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	OR2G3	olfactory receptor family 2 subfamily G member 3	OR2G3	olfactory receptor, family 2, subfamily G, member 3	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

Imported Human Phenotype Annotations - ClinVar