OR3A2 (olfactory receptor family 3 subfamily A member 2) - Rat Genome Database

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Gene: OR3A2 (olfactory receptor family 3 subfamily A member 2) Homo sapiens
Analyze
Symbol: OR3A2
Name: olfactory receptor family 3 subfamily A member 2
RGD ID: 1350655
HGNC Page HGNC:8283
Description: Predicted to enable olfactory receptor activity. Predicted to be involved in signal transduction. Predicted to be located in membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: olfactory receptor 17-228; olfactory receptor 3A2; olfactory receptor OR17-14; olfactory receptor, family 3, subfamily A, member 2; OLFRA04; OR17-14; OR17-228; OR228
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,276,113 - 3,386,308 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,276,177 - 3,386,317 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,179,407 - 3,289,602 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,127,934 - 3,129,018 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,128,013 - 3,236,337NCBI
Celera173,194,908 - 3,195,992 (-)NCBICelera
Cytogenetic Map17p13.3NCBI
HuRef173,073,409 - 3,074,493 (-)NCBIHuRef
CHM1_1173,190,075 - 3,191,159 (-)NCBICHM1_1
T2T-CHM13v2.0173,164,339 - 3,275,247 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)

Molecular Function

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:8004088   PMID:8921386   PMID:9500546   PMID:10673334   PMID:12477932   PMID:14983052   PMID:15174051   PMID:21873635   PMID:23958962   PMID:32807901  


Genomics

Comparative Map Data
OR3A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,276,113 - 3,386,308 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,276,177 - 3,386,317 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,179,407 - 3,289,602 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,127,934 - 3,129,018 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,128,013 - 3,236,337NCBI
Celera173,194,908 - 3,195,992 (-)NCBICelera
Cytogenetic Map17p13.3NCBI
HuRef173,073,409 - 3,074,493 (-)NCBIHuRef
CHM1_1173,190,075 - 3,191,159 (-)NCBICHM1_1
T2T-CHM13v2.0173,164,339 - 3,275,247 (-)NCBIT2T-CHM13v2.0
Or3a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391174,225,108 - 74,226,055 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1174,221,107 - 74,228,857 (-)EnsemblGRCm39 Ensembl
GRCm381174,334,282 - 74,335,229 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1174,330,281 - 74,338,031 (-)EnsemblGRCm38mm10GRCm38
MGSCv371174,147,784 - 74,148,731 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361174,150,477 - 74,151,424 (-)NCBIMGSCv36mm8
Celera1181,843,103 - 81,844,050 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1145.76NCBI
Or3a1e
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81059,521,798 - 59,522,745 (+)NCBIGRCr8
mRatBN7.21059,023,353 - 59,024,300 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1059,023,353 - 59,024,300 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1063,650,376 - 63,651,323 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01063,155,979 - 63,156,926 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01058,650,565 - 58,651,512 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01060,997,525 - 60,998,472 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1060,997,525 - 60,998,472 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01060,731,039 - 60,731,890 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41061,444,058 - 61,445,005 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11061,457,680 - 61,458,628 (+)NCBI
Celera1058,064,583 - 58,065,530 (+)NCBICelera
Cytogenetic Map10q24NCBI
OR3A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,191,669 - 47,192,628 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,191,669 - 47,192,634 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,344,261 - 46,345,208 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,027,439 - 48,028,386 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,027,439 - 48,028,404 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1946,791,074 - 46,792,018 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,085,326 - 47,086,273 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,140,952 - 47,141,899 (-)NCBIUU_Cfam_GSD_1.0
LOC100514488
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,379,227 - 49,380,174 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,378,101 - 49,381,018 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21251,337,721 - 51,338,807 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in OR3A2
49 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|See cases [RCV000053386] Chr17:198748..3436345 [GRCh38]
Chr17:50690..3339639 [GRCh37]
Chr17:48539..3286389 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1 copy number loss See cases [RCV000053405] Chr17:2527510..3467165 [GRCh38]
Chr17:2430804..3370459 [GRCh37]
Chr17:2377554..3317209 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3 copy number gain See cases [RCV000053972] Chr17:3036729..3684667 [GRCh38]
Chr17:2940023..3587961 [GRCh37]
Chr17:2886773..3534710 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|See cases [RCV000053973] Chr17:3208843..3839780 [GRCh38]
Chr17:3112137..3743074 [GRCh37]
Chr17:3058887..3689823 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
NM_002551.3(OR3A2):c.913G>A (p.Asp305Asn) single nucleotide variant Malignant melanoma [RCV000071419] Chr17:3278023 [GRCh38]
Chr17:3181317 [GRCh37]
Chr17:3128067 [NCBI36]
Chr17:17p13.3
not provided
NM_002551.3(OR3A2):c.353G>A (p.Gly118Glu) single nucleotide variant Malignant melanoma [RCV000071420] Chr17:3278583 [GRCh38]
Chr17:3181877 [GRCh37]
Chr17:3128627 [NCBI36]
Chr17:17p13.3
not provided
NM_002551.3(OR3A2):c.339C>T (p.Phe113=) single nucleotide variant Malignant melanoma [RCV000071421] Chr17:3278597 [GRCh38]
Chr17:3181891 [GRCh37]
Chr17:3128641 [NCBI36]
Chr17:17p13.3
not provided
NM_002551.3(OR3A2):c.12G>A (p.Gln4=) single nucleotide variant Malignant melanoma [RCV000071422] Chr17:3278924 [GRCh38]
Chr17:3182218 [GRCh37]
Chr17:3128968 [NCBI36]
Chr17:17p13.3
not provided
NM_002551.3(OR3A2):c.596C>T (p.Ser199Phe) single nucleotide variant Malignant melanoma [RCV000063196] Chr17:3278340 [GRCh38]
Chr17:3181634 [GRCh37]
Chr17:3128384 [NCBI36]
Chr17:17p13.3
not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1 copy number loss See cases [RCV000133921] Chr17:3155468..3543868 [GRCh38]
Chr17:3058762..3447162 [GRCh37]
Chr17:3005512..3393912 [NCBI36]
Chr17:17p13.3-13.2
benign
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 copy number gain See cases [RCV000137603] Chr17:1348488..3513273 [GRCh38]
Chr17:1251782..3416567 [GRCh37]
Chr17:1198532..3363317 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3 copy number gain See cases [RCV000137331] Chr17:3102273..3667053 [GRCh38]
Chr17:3005567..3570347 [GRCh37]
Chr17:2952317..3517096 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3 copy number gain See cases [RCV000142062] Chr17:3168370..3862518 [GRCh38]
Chr17:3071664..3765812 [GRCh37]
Chr17:3018414..3712561 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2922729-3436438)x3 copy number gain See cases [RCV000142895] Chr17:2922729..3436438 [GRCh38]
Chr17:2826023..3339732 [GRCh37]
Chr17:2772773..3286482 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3 copy number gain See cases [RCV000142793] Chr17:3187406..3880628 [GRCh38]
Chr17:3090700..3783922 [GRCh37]
Chr17:3037450..3730671 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3 copy number gain See cases [RCV000143610] Chr17:3168370..3852982 [GRCh38]
Chr17:3071664..3756276 [GRCh37]
Chr17:3018414..3703025 [NCBI36]
Chr17:17p13.3-13.2
likely benign|uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1 copy number loss See cases [RCV000448506] Chr17:48858..3379400 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3 copy number gain See cases [RCV000511855] Chr17:1922768..3429136 [GRCh37]
Chr17:17p13.3-13.2
likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162) copy number loss Lissencephaly [RCV000626516] Chr17:2339561..3447162 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_002551.5(OR3A2):c.52C>G (p.Leu18Val) single nucleotide variant Inborn genetic diseases [RCV003262904] Chr17:3278866 [GRCh38]
Chr17:3182160 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.682G>A (p.Val228Ile) single nucleotide variant Inborn genetic diseases [RCV003245787] Chr17:3278236 [GRCh38]
Chr17:3181530 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3(chr17:2834635-3206175)x3 copy number gain not provided [RCV000683877] Chr17:2834635..3206175 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2944083-3429136)x3 copy number gain not provided [RCV000683878] Chr17:2944083..3429136 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:3039323-3237621)x1 copy number loss not provided [RCV001007494] Chr17:3039323..3237621 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_002550.3(OR3A1):c.524A>G (p.Asn175Ser) single nucleotide variant not provided [RCV000957508] Chr17:3292059 [GRCh38]
Chr17:3195353 [GRCh37]
Chr17:17p13.3
benign
NM_002550.3(OR3A1):c.274A>T (p.Lys92Ter) single nucleotide variant not provided [RCV000957509] Chr17:3292309 [GRCh38]
Chr17:3195603 [GRCh37]
Chr17:17p13.3
benign
NM_002550.3(OR3A1):c.541T>C (p.Tyr181His) single nucleotide variant not provided [RCV000957507] Chr17:3292042 [GRCh38]
Chr17:3195336 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3 copy number gain not provided [RCV001006859] Chr17:3146183..3646235 [GRCh37]
Chr17:17p13.3-13.2
likely benign
GRCh37/hg19 17p13.3(chr17:3057412-3228987)x1 copy number loss not provided [RCV001006858] Chr17:3057412..3228987 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3(chr17:2966291-3247171)x3 copy number gain not provided [RCV001006857] Chr17:2966291..3247171 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1 copy number loss not provided [RCV001537893] Chr17:2313096..3735525 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3 copy number gain not provided [RCV001834365] Chr17:2646815..3698838 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2809266-3424183)x3 copy number gain not provided [RCV001827915] Chr17:2809266..3424183 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NC_000017.10:g.(?_2541583)_(3819519_?)del deletion not provided [RCV001901409] Chr17:2541583..3819519 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3 copy number gain not provided [RCV002472591] Chr17:1095592..3484368 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_002550.3(OR3A1):c.824A>G (p.Lys275Arg) single nucleotide variant Inborn genetic diseases [RCV002684710] Chr17:3291759 [GRCh38]
Chr17:3195053 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.413G>A (p.Arg138His) single nucleotide variant Inborn genetic diseases [RCV002682260] Chr17:3278505 [GRCh38]
Chr17:3181799 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.211G>C (p.Val71Leu) single nucleotide variant Inborn genetic diseases [RCV002883605] Chr17:3278707 [GRCh38]
Chr17:3182001 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.775A>G (p.Ile259Val) single nucleotide variant Inborn genetic diseases [RCV002762439] Chr17:3278143 [GRCh38]
Chr17:3181437 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.868C>G (p.Pro290Ala) single nucleotide variant Inborn genetic diseases [RCV002737387] Chr17:3291715 [GRCh38]
Chr17:3195009 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.391C>T (p.Arg131Trp) single nucleotide variant Inborn genetic diseases [RCV002761760] Chr17:3292192 [GRCh38]
Chr17:3195486 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.637C>T (p.Pro213Ser) single nucleotide variant Inborn genetic diseases [RCV002950471] Chr17:3278281 [GRCh38]
Chr17:3181575 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.707G>C (p.Gly236Ala) single nucleotide variant Inborn genetic diseases [RCV002704576] Chr17:3278211 [GRCh38]
Chr17:3181505 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.494C>T (p.Ala165Val) single nucleotide variant Inborn genetic diseases [RCV002926306] Chr17:3278424 [GRCh38]
Chr17:3181718 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.844A>G (p.Thr282Ala) single nucleotide variant Inborn genetic diseases [RCV002873579] Chr17:3291739 [GRCh38]
Chr17:3195033 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.802A>G (p.Thr268Ala) single nucleotide variant Inborn genetic diseases [RCV002708471] Chr17:3291781 [GRCh38]
Chr17:3195075 [GRCh37]
Chr17:17p13.3
likely benign
NM_002550.3(OR3A1):c.833G>A (p.Gly278Glu) single nucleotide variant Inborn genetic diseases [RCV002854023] Chr17:3291750 [GRCh38]
Chr17:3195044 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.272G>A (p.Arg91His) single nucleotide variant Inborn genetic diseases [RCV002696969] Chr17:3292311 [GRCh38]
Chr17:3195605 [GRCh37]
Chr17:17p13.3
likely benign
NM_002551.5(OR3A2):c.412C>T (p.Arg138Cys) single nucleotide variant Inborn genetic diseases [RCV002956316] Chr17:3278506 [GRCh38]
Chr17:3181800 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.868C>T (p.Pro290Ser) single nucleotide variant Inborn genetic diseases [RCV002893079] Chr17:3278050 [GRCh38]
Chr17:3181344 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.844A>G (p.Thr282Ala) single nucleotide variant Inborn genetic diseases [RCV002713368] Chr17:3278074 [GRCh38]
Chr17:3181368 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.473A>G (p.Asn158Ser) single nucleotide variant Inborn genetic diseases [RCV002697267] Chr17:3292110 [GRCh38]
Chr17:3195404 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.533A>G (p.Asn178Ser) single nucleotide variant Inborn genetic diseases [RCV003003777] Chr17:3292050 [GRCh38]
Chr17:3195344 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.271C>T (p.Arg91Cys) single nucleotide variant Inborn genetic diseases [RCV002698083] Chr17:3292312 [GRCh38]
Chr17:3195606 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.385A>G (p.Ile129Val) single nucleotide variant Inborn genetic diseases [RCV002709365] Chr17:3278533 [GRCh38]
Chr17:3181827 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.825A>C (p.Lys275Asn) single nucleotide variant Inborn genetic diseases [RCV002674704] Chr17:3291758 [GRCh38]
Chr17:3195052 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.49C>G (p.Leu17Val) single nucleotide variant Inborn genetic diseases [RCV002670517] Chr17:3292534 [GRCh38]
Chr17:3195828 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.816C>A (p.Asp272Glu) single nucleotide variant Inborn genetic diseases [RCV002808639] Chr17:3291767 [GRCh38]
Chr17:3195061 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.124G>T (p.Val42Phe) single nucleotide variant Inborn genetic diseases [RCV002920971] Chr17:3292459 [GRCh38]
Chr17:3195753 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.278G>T (p.Arg93Leu) single nucleotide variant Inborn genetic diseases [RCV002679476] Chr17:3292305 [GRCh38]
Chr17:3195599 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.809C>G (p.Ala270Gly) single nucleotide variant Inborn genetic diseases [RCV002679468] Chr17:3278109 [GRCh38]
Chr17:3181403 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.134A>C (p.Asn45Thr) single nucleotide variant Inborn genetic diseases [RCV002814224] Chr17:3278784 [GRCh38]
Chr17:3182078 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.280G>T (p.Ala94Ser) single nucleotide variant Inborn genetic diseases [RCV002679477] Chr17:3292303 [GRCh38]
Chr17:3195597 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.503C>T (p.Thr168Met) single nucleotide variant Inborn genetic diseases [RCV003188685] Chr17:3278415 [GRCh38]
Chr17:3181709 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.844A>T (p.Thr282Ser) single nucleotide variant Inborn genetic diseases [RCV003205750] Chr17:3291739 [GRCh38]
Chr17:3195033 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.829G>T (p.Val277Phe) single nucleotide variant Inborn genetic diseases [RCV003216857] Chr17:3291754 [GRCh38]
Chr17:3195048 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12
pathogenic
NM_002551.5(OR3A2):c.500C>T (p.Ser167Phe) single nucleotide variant Inborn genetic diseases [RCV003349685] Chr17:3278418 [GRCh38]
Chr17:3181712 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002551.5(OR3A2):c.748G>A (p.Val250Met) single nucleotide variant Inborn genetic diseases [RCV003356296] Chr17:3278170 [GRCh38]
Chr17:3181464 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1 copy number loss not provided [RCV003483307] Chr17:526..3441645 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1 copy number loss not provided [RCV003483311] Chr17:2433587..3484368 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_002550.3(OR3A1):c.100T>A (p.Phe34Ile) single nucleotide variant not provided [RCV003428056] Chr17:3292483 [GRCh38]
Chr17:3195777 [GRCh37]
Chr17:17p13.3
likely benign
NM_002550.3(OR3A1):c.465T>C (p.Ala155=) single nucleotide variant not provided [RCV003419569] Chr17:3292118 [GRCh38]
Chr17:3195412 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3 copy number gain not specified [RCV003987223] Chr17:2674657..3484368 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NM_002550.3(OR3A1):c.356C>T (p.Thr119Ile) single nucleotide variant Inborn genetic diseases [RCV003357303] Chr17:3292227 [GRCh38]
Chr17:3195521 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:3160211-3424544)x3 copy number gain not provided [RCV000846629] Chr17:3160211..3424544 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NM_002550.3(OR3A1):c.564C>G (p.Phe188Leu) single nucleotide variant Inborn genetic diseases [RCV002752878] Chr17:3292019 [GRCh38]
Chr17:3195313 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_002550.3(OR3A1):c.437T>C (p.Met146Thr) single nucleotide variant Inborn genetic diseases [RCV003215523] Chr17:3292146 [GRCh38]
Chr17:3195440 [GRCh37]
Chr17:17p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:254
Count of miRNA genes:246
Interacting mature miRNAs:254
Transcripts:ENST00000408891
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.

Markers in Region
OR3A2__7150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,181,162 - 3,181,937UniSTSGRCh37
Build 36173,127,912 - 3,128,687RGDNCBI36
Celera173,194,886 - 3,195,661RGD
HuRef173,073,387 - 3,074,162UniSTS


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 entire extraembryonic component
High
Medium 1 1 5 3
Low 28 10 102 2 94 2 74 8 356 20 446 28 17 46 1
Below cutoff 945 854 642 113 586 57 1353 710 2420 146 394 568 57 599 845 3

Sequence


RefSeq Acc Id: ENST00000408891   ⟹   ENSP00000386180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,277,899 - 3,278,974 (-)Ensembl
RefSeq Acc Id: ENST00000573491   ⟹   ENSP00000493118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,278,775 - 3,386,293 (-)Ensembl
RefSeq Acc Id: ENST00000573901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,276,177 - 3,386,308 (-)Ensembl
RefSeq Acc Id: ENST00000576166   ⟹   ENSP00000493095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,278,826 - 3,386,317 (-)Ensembl
RefSeq Acc Id: ENST00000641164   ⟹   ENSP00000493039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,276,942 - 3,278,974 (-)Ensembl
RefSeq Acc Id: ENST00000642052   ⟹   ENSP00000493441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,277,199 - 3,284,380 (-)Ensembl
RefSeq Acc Id: NM_002551   ⟹   NP_002542
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,276,177 - 3,386,308 (-)NCBI
GRCh37173,181,184 - 3,182,268 (-)RGD
Build 36173,127,934 - 3,129,018 (-)NCBI Archive
Celera173,194,908 - 3,195,992 (-)RGD
HuRef173,073,409 - 3,074,493 (-)RGD
CHM1_1173,190,075 - 3,191,159 (-)NCBI
T2T-CHM13v2.0173,164,403 - 3,275,247 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436157   ⟹   XP_047292113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,276,113 - 3,386,308 (-)NCBI
RefSeq Acc Id: XM_054316288   ⟹   XP_054172263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,164,339 - 3,187,686 (-)NCBI
RefSeq Acc Id: NP_002542   ⟸   NM_002551
- UniProtKB: Q9P1Q3 (UniProtKB/Swiss-Prot),   Q6IFM3 (UniProtKB/Swiss-Prot),   P47893 (UniProtKB/Swiss-Prot),   A0A286YFF0 (UniProtKB/TrEMBL),   A0A126GVQ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000493118   ⟸   ENST00000573491
RefSeq Acc Id: ENSP00000493095   ⟸   ENST00000576166
RefSeq Acc Id: ENSP00000493039   ⟸   ENST00000641164
RefSeq Acc Id: ENSP00000493441   ⟸   ENST00000642052
RefSeq Acc Id: ENSP00000386180   ⟸   ENST00000408891
RefSeq Acc Id: XP_047292113   ⟸   XM_047436157
- Peptide Label: isoform X1
- UniProtKB: Q9P1Q3 (UniProtKB/Swiss-Prot),   Q6IFM3 (UniProtKB/Swiss-Prot),   P47893 (UniProtKB/Swiss-Prot),   A0A126GVQ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172263   ⟸   XM_054316288
- Peptide Label: isoform X1
- UniProtKB: Q9P1Q3 (UniProtKB/Swiss-Prot),   Q6IFM3 (UniProtKB/Swiss-Prot),   P47893 (UniProtKB/Swiss-Prot),   A0A126GVQ3 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P47893-F1-model_v2 AlphaFold P47893 1-321 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8283 AgrOrtholog
COSMIC OR3A2 COSMIC
Ensembl Genes ENSG00000221882 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000573491.5 UniProtKB/TrEMBL
  ENST00000573901 ENTREZGENE
  ENST00000573901.3 UniProtKB/TrEMBL
  ENST00000576166.2 UniProtKB/TrEMBL
  ENST00000641164.1 UniProtKB/TrEMBL
  ENST00000642052.1 UniProtKB/TrEMBL
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000221882 GTEx
HGNC ID HGNC:8283 ENTREZGENE
Human Proteome Map OR3A2 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:4995 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4995 ENTREZGENE
PANTHER OLFACTORY RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORY RECEPTOR 3A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32224 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 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 A0A126GVQ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YF44_HUMAN UniProtKB/TrEMBL
  A0A286YF70_HUMAN UniProtKB/TrEMBL
  A0A286YFF0 ENTREZGENE, UniProtKB/TrEMBL
  OR3A2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IFM3 ENTREZGENE
  Q9P1Q3 ENTREZGENE
UniProt Secondary Q6IFM3 UniProtKB/Swiss-Prot
  Q9P1Q3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR3A2  olfactory receptor family 3 subfamily A member 2  OR3A2  olfactory receptor, family 3, subfamily A, member 2  Symbol and/or name change 5135510 APPROVED