OR2A7 (olfactory receptor family 2 subfamily A member 7) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: OR2A7 (olfactory receptor family 2 subfamily A member 7) Homo sapiens
Analyze
Symbol: OR2A7
Name: olfactory receptor family 2 subfamily A member 7
RGD ID: 1348744
HGNC Page HGNC:8234
Description: Predicted to enable odorant binding activity and olfactory receptor activity. Predicted to be involved in detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in plasma membrane. Predicted to be active in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: HSDJ0798C17; olfactory receptor 2A7; olfactory receptor OR7-18; olfactory receptor OR7-20; olfactory receptor, family 2, subfamily A, member 21; olfactory receptor, family 2, subfamily A, member 7; OR2A21
RGD Orthologs
Mouse
Rat
Dog
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387144,257,663 - 144,264,792 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7144,257,663 - 144,264,792 (-)EnsemblGRCh38hg38GRCh38
GRCh377143,954,756 - 143,961,885 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367143,586,722 - 143,587,654 (-)NCBINCBI36Build 36hg18NCBI36
Build 347143,393,436 - 143,394,369NCBI
Celera6132,768,253 - 132,769,185 (-)NCBICelera
Cytogenetic Map7q35NCBI
HuRef7138,089,781 - 138,090,713 (+)NCBIHuRef
CHM1_17143,893,176 - 143,894,108 (-)NCBICHM1_1
CRA_TCAGchr7v27143,294,047 - 143,294,979 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
membrane  (IBA,IEA)
plasma membrane  (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:12213199   PMID:12477932   PMID:14983052   PMID:21873635   PMID:27315375  


Genomics

Comparative Map Data
OR2A7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387144,257,663 - 144,264,792 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7144,257,663 - 144,264,792 (-)EnsemblGRCh38hg38GRCh38
GRCh377143,954,756 - 143,961,885 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367143,586,722 - 143,587,654 (-)NCBINCBI36Build 36hg18NCBI36
Build 347143,393,436 - 143,394,369NCBI
Celera6132,768,253 - 132,769,185 (-)NCBICelera
Cytogenetic Map7q35NCBI
HuRef7138,089,781 - 138,090,713 (+)NCBIHuRef
CHM1_17143,893,176 - 143,894,108 (-)NCBICHM1_1
CRA_TCAGchr7v27143,294,047 - 143,294,979 (-)NCBI
Or2a7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39643,150,922 - 43,151,854 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl643,149,074 - 43,154,394 (+)EnsemblGRCm39 Ensembl
GRCm38643,173,988 - 43,174,920 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl643,172,140 - 43,177,460 (+)EnsemblGRCm38mm10GRCm38
MGSCv37643,123,987 - 43,124,919 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36643,103,595 - 43,104,527 (+)NCBIMGSCv36mm8
Celera643,121,688 - 43,122,620 (+)NCBICelera
Cytogenetic Map6B2.1NCBI
cM Map621.1NCBI
Or2a7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8472,979,036 - 72,979,968 (+)NCBIGRCr8
mRatBN7.2471,979,026 - 71,979,958 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl471,976,693 - 71,980,863 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx476,970,375 - 76,971,307 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0472,883,605 - 72,884,537 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0471,272,943 - 71,273,875 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0472,603,242 - 72,604,174 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl472,603,242 - 72,604,174 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04137,305,509 - 137,306,191 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4470,919,543 - 70,920,475 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1471,195,672 - 71,196,605 (+)NCBI
Celera466,924,820 - 66,925,752 (+)NCBICelera
Cytogenetic Map4q24NCBI
OR2A7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1165,725,634 - 5,730,268 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl165,725,751 - 5,726,683 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha166,837,769 - 6,838,701 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0165,590,151 - 5,594,791 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl165,590,268 - 5,591,200 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1165,519,547 - 5,520,479 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0165,377,978 - 5,378,910 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0165,449,155 - 5,450,087 (-)NCBIUU_Cfam_GSD_1.0
LOC100511466
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.19113,457,987 - 113,458,928 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29124,906,828 - 124,907,760 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103227416
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121112,930,270 - 112,939,631 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660729,708,052 - 9,709,773 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in OR2A7
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3
pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1
pathogenic
NM_001005328.1(OR2A7):c.602G>A (p.Gly201Glu) single nucleotide variant Malignant melanoma [RCV000067735] Chr7:144259027 [GRCh38]
Chr7:143956120 [GRCh37]
Chr7:143587053 [NCBI36]
Chr7:7q35
not provided
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q35(chr7:143735880-144409525)x3 copy number gain See cases [RCV000136107] Chr7:143735880..144409525 [GRCh38]
Chr7:143432973..144106618 [GRCh37]
Chr7:143063906..143737551 [NCBI36]
Chr7:7q35
likely benign
GRCh38/hg38 7q35(chr7:144254868-144354157)x1 copy number loss See cases [RCV000136194] Chr7:144254868..144354157 [GRCh38]
Chr7:143951961..144051250 [GRCh37]
Chr7:143582894..143682183 [NCBI36]
Chr7:7q35
benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q35(chr7:144227698-144354186)x3 copy number gain See cases [RCV000138461] Chr7:144227698..144354186 [GRCh38]
Chr7:143924791..144051279 [GRCh37]
Chr7:143555724..143682212 [NCBI36]
Chr7:7q35
likely benign
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4 copy number gain See cases [RCV000138555] Chr7:143596735..150089125 [GRCh38]
Chr7:143293828..149786214 [GRCh37]
Chr7:143003950..149417147 [NCBI36]
Chr7:7q35-36.1
likely pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q35(chr7:144186919-144354186)x3 copy number gain See cases [RCV000138865] Chr7:144186919..144354186 [GRCh38]
Chr7:143884012..144051279 [GRCh37]
Chr7:143514945..143682212 [NCBI36]
Chr7:7q35
likely benign
GRCh38/hg38 7q35(chr7:144186919-144354186)x1 copy number loss See cases [RCV000138866] Chr7:144186919..144354186 [GRCh38]
Chr7:143884012..144051279 [GRCh37]
Chr7:143514945..143682212 [NCBI36]
Chr7:7q35
likely benign
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1
benign
GRCh37/hg19 7q35(chr7:143887276-144079906)x1 copy number loss not provided [RCV000747095] Chr7:143887276..144079906 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q35(chr7:143572320-144474990)x3 copy number gain not provided [RCV000848430] Chr7:143572320..144474990 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3
not provided
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q35(chr7:143425718-144075390)x1 copy number loss See cases [RCV002286335] Chr7:143425718..144075390 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
NM_001005328.2(OR2A7):c.664T>A (p.Cys222Ser) single nucleotide variant not specified [RCV004244416] Chr7:144258965 [GRCh38]
Chr7:143956058 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.383C>A (p.Pro128His) single nucleotide variant not specified [RCV004231676] Chr7:144259246 [GRCh38]
Chr7:143956339 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.14T>C (p.Ile5Thr) single nucleotide variant not specified [RCV004175977] Chr7:144259615 [GRCh38]
Chr7:143956708 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.257A>T (p.His86Leu) single nucleotide variant not specified [RCV004258978] Chr7:144259372 [GRCh38]
Chr7:143956465 [GRCh37]
Chr7:7q35
uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
NM_001005328.2(OR2A7):c.743G>T (p.Gly248Val) single nucleotide variant not specified [RCV004277033] Chr7:144258886 [GRCh38]
Chr7:143955979 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.809A>G (p.Lys270Arg) single nucleotide variant not specified [RCV004302267] Chr7:144258820 [GRCh38]
Chr7:143955913 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.454G>A (p.Val152Ile) single nucleotide variant not specified [RCV004313794] Chr7:144259175 [GRCh38]
Chr7:143956268 [GRCh37]
Chr7:7q35
uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3
likely pathogenic
NM_001005328.2(OR2A7):c.236G>A (p.Arg79Gln) single nucleotide variant not specified [RCV004342912] Chr7:144259393 [GRCh38]
Chr7:143956486 [GRCh37]
Chr7:7q35
likely benign
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1
pathogenic
NM_001005328.2(OR2A7):c.805C>A (p.Gln269Lys) single nucleotide variant not specified [RCV004352817] Chr7:144258824 [GRCh38]
Chr7:143955917 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.806A>G (p.Gln269Arg) single nucleotide variant not specified [RCV004352818] Chr7:144258823 [GRCh38]
Chr7:143955916 [GRCh37]
Chr7:7q35
uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_001005328.2(OR2A7):c.155C>G (p.Ser52Cys) single nucleotide variant not specified [RCV004501889] Chr7:144259474 [GRCh38]
Chr7:143956567 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.215A>G (p.Tyr72Cys) single nucleotide variant not specified [RCV004501890] Chr7:144259414 [GRCh38]
Chr7:143956507 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.140T>A (p.Leu47His) single nucleotide variant not specified [RCV004501888] Chr7:144259489 [GRCh38]
Chr7:143956582 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.238A>C (p.Met80Leu) single nucleotide variant not specified [RCV004501891] Chr7:144259391 [GRCh38]
Chr7:143956484 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.293T>C (p.Met98Thr) single nucleotide variant not specified [RCV004501892] Chr7:144259336 [GRCh38]
Chr7:143956429 [GRCh37]
Chr7:7q35
likely benign
NM_001005328.2(OR2A7):c.548T>C (p.Val183Ala) single nucleotide variant not specified [RCV004501893] Chr7:144259081 [GRCh38]
Chr7:143956174 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.582T>G (p.Asn194Lys) single nucleotide variant not specified [RCV004501894] Chr7:144259047 [GRCh38]
Chr7:143956140 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.859C>T (p.Leu287Phe) single nucleotide variant not specified [RCV004655371] Chr7:144258770 [GRCh38]
Chr7:143955863 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.235C>T (p.Arg79Trp) single nucleotide variant not specified [RCV004646294] Chr7:144259394 [GRCh38]
Chr7:143956487 [GRCh37]
Chr7:7q35
uncertain significance
NM_001005328.2(OR2A7):c.751T>C (p.Tyr251His) single nucleotide variant not specified [RCV004655370] Chr7:144258878 [GRCh38]
Chr7:143955971 [GRCh37]
Chr7:7q35
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:132
Count of miRNA genes:132
Interacting mature miRNAs:132
Transcripts:ENST00000493325
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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1200 2416 2509 2140 4177 1689 2265 4 600 1190 442 2233 6148 5592 36 2972 838 1708 1555 170

Sequence


Ensembl Acc Id: ENST00000493325   ⟹   ENSP00000420502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7144,258,607 - 144,259,722 (-)Ensembl
Ensembl Acc Id: ENST00000641841   ⟹   ENSP00000493320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7144,257,663 - 144,264,792 (-)Ensembl
RefSeq Acc Id: NM_001005328   ⟹   NP_001005328
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387144,257,663 - 144,264,792 (-)NCBI
GRCh377143,955,789 - 143,956,721 (-)RGD
Build 367143,586,722 - 143,587,654 (-)NCBI Archive
HuRef7138,089,781 - 138,090,713 (+)RGD
CHM1_17143,893,176 - 143,894,108 (-)NCBI
CRA_TCAGchr7v27143,294,047 - 143,294,979 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_001005328   ⟸   NM_001005328
- UniProtKB: Q96R45 (UniProtKB/Swiss-Prot),   Q6IFP4 (UniProtKB/Swiss-Prot),   B2RN57 (UniProtKB/Swiss-Prot),   A0A126GVA9 (UniProtKB/TrEMBL),   A0A126GWD8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000420502   ⟸   ENST00000493325
Ensembl Acc Id: ENSP00000493320   ⟸   ENST00000641841
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96R45-F1-model_v2 AlphaFold Q96R45 1-310 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8234 AgrOrtholog
COSMIC OR2A7 COSMIC
Ensembl Genes ENSG00000243896 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000284749 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000493325.1 UniProtKB/Swiss-Prot
  ENST00000641841 ENTREZGENE
  ENST00000641841.1 UniProtKB/Swiss-Prot
  ENST00000643586.2 UniProtKB/Swiss-Prot
  ENST00000643902.2 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000243896 GTEx
  ENSG00000284749 GTEx
HGNC ID HGNC:8234 ENTREZGENE
Human Proteome Map OR2A7 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:401427 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene OR2A7 ENTREZGENE
PANTHER OLFACTORY RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORY RECEPTOR 13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32120 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 A0A126GVA9 ENTREZGENE, UniProtKB/TrEMBL
  A0A126GWD8 ENTREZGENE, UniProtKB/TrEMBL
  B2RN57 ENTREZGENE
  OR2A7_HUMAN UniProtKB/Swiss-Prot
  Q6IFP4 ENTREZGENE
  Q96R45 ENTREZGENE
UniProt Secondary B2RN57 UniProtKB/Swiss-Prot
  Q6IFP4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR2A7  olfactory receptor family 2 subfamily A member 7  OR2A7  olfactory receptor, family 2, subfamily A, member 7  Symbol and/or name change 5135510 APPROVED