OR9A2 (olfactory receptor family 9 subfamily A member 2) - Rat Genome Database

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Gene: OR9A2 (olfactory receptor family 9 subfamily A member 2) Homo sapiens
Analyze
Symbol: OR9A2
Name: olfactory receptor family 9 subfamily A member 2
RGD ID: 1348029
HGNC Page HGNC:15093
Description: Predicted to enable G protein-coupled receptor activity and olfactory receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: olfactory receptor 9A2; olfactory receptor OR7-2; olfactory receptor, family 9, subfamily A, member 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh387143,026,200 - 143,027,132 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7143,026,200 - 143,027,132 (-)EnsemblGRCh38hg38GRCh38
GRCh377142,723,287 - 142,724,219 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,433,409 - 142,434,341 (-)NCBINCBI36Build 36hg18NCBI36
Build 347142,240,123 - 142,241,056NCBI
Celera7137,560,149 - 137,561,081 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7137,061,545 - 137,062,477 (-)NCBIHuRef
CHM1_17142,660,172 - 142,661,104 (-)NCBICHM1_1
T2T-CHM13v2.07144,381,613 - 144,382,545 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27142,125,157 - 142,126,089 (-)NCBI
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

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:12477932   PMID:12732197   PMID:12908129   PMID:14983052  


Genomics

Comparative Map Data
OR9A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387143,026,200 - 143,027,132 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7143,026,200 - 143,027,132 (-)EnsemblGRCh38hg38GRCh38
GRCh377142,723,287 - 142,724,219 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,433,409 - 142,434,341 (-)NCBINCBI36Build 36hg18NCBI36
Build 347142,240,123 - 142,241,056NCBI
Celera7137,560,149 - 137,561,081 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7137,061,545 - 137,062,477 (-)NCBIHuRef
CHM1_17142,660,172 - 142,661,104 (-)NCBICHM1_1
T2T-CHM13v2.07144,381,613 - 144,382,545 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27142,125,157 - 142,126,089 (-)NCBI
Or9a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39641,748,287 - 41,749,231 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl641,745,704 - 41,752,111 (-)EnsemblGRCm39 Ensembl
GRCm38641,771,353 - 41,772,297 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl641,768,770 - 41,775,177 (-)EnsemblGRCm38mm10GRCm38
MGSCv37641,721,352 - 41,722,296 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36641,700,960 - 41,701,904 (-)NCBIMGSCv36mm8
Celera641,723,933 - 41,724,877 (-)NCBICelera
Cytogenetic Map6B2.1NCBI
cM Map619.96NCBI
Or9a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8471,638,088 - 71,639,032 (-)NCBIGRCr8
mRatBN7.2470,671,451 - 70,672,395 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl470,670,720 - 70,673,686 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx475,588,926 - 75,589,870 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0471,502,175 - 71,503,119 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0469,907,006 - 69,907,950 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0471,079,555 - 71,080,499 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl471,079,555 - 71,080,499 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04135,871,426 - 135,872,370 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera465,629,240 - 65,630,184 (-)NCBICelera
Cytogenetic Map4q24NCBI
LOC102029408
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955494618,271 - 619,213 (+)NCBIChiLan1.0ChiLan1.0
LOC100989032
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26179,873,893 - 179,874,827 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1731,884,150 - 31,885,084 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07135,016,486 - 135,017,420 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17147,507,388 - 147,508,322 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7147,507,388 - 147,508,322 (-)Ensemblpanpan1.1panPan2
OR9A8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1166,577,571 - 6,580,293 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl166,578,449 - 6,579,390 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0166,489,350 - 6,490,291 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl166,489,350 - 6,490,291 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1166,437,152 - 6,438,093 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0166,288,629 - 6,289,570 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0166,352,876 - 6,353,817 (+)NCBIUU_Cfam_GSD_1.0
LOC101962398
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511812,435,414 - 12,436,610 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936527467,003 - 467,947 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936527467,003 - 467,944 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100621164
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl187,206,092 - 7,207,036 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1187,203,365 - 7,211,874 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2187,454,977 - 7,455,921 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103227121
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121111,902,324 - 111,904,268 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660728,624,223 - 8,629,406 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in OR9A2
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35
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 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 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 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 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
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
NM_001001658.1(OR9A2):c.96C>T (p.Phe32=) single nucleotide variant Malignant melanoma [RCV000061577] Chr7:143027037 [GRCh38]
Chr7:142724124 [GRCh37]
Chr7:142434246 [NCBI36]
Chr7:7q34
not provided
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 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 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 7q34-36.3(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 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 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 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 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 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 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
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 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(chr7:132438072-159327017)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
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 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 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
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 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
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 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
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 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
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
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 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 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 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 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35
benign
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 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 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
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
NM_001001658.1(OR9A2):c.33C>A (p.Phe11Leu) single nucleotide variant Inborn genetic diseases [RCV003268605] Chr7:143027100 [GRCh38]
Chr7:142724187 [GRCh37]
Chr7:7q34
uncertain significance
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 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35
pathogenic
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 7q34-35(chr7:142691458-143193361) copy number gain not specified [RCV002053738] Chr7:142691458..143193361 [GRCh37]
Chr7:7q34-35
uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
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_001001658.1(OR9A2):c.715T>C (p.Ser239Pro) single nucleotide variant Inborn genetic diseases [RCV002683244] Chr7:143026418 [GRCh38]
Chr7:142723505 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.845A>T (p.Asn282Ile) single nucleotide variant Inborn genetic diseases [RCV002728867] Chr7:143026288 [GRCh38]
Chr7:142723375 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.349G>A (p.Asp117Asn) single nucleotide variant Inborn genetic diseases [RCV002707744] Chr7:143026784 [GRCh38]
Chr7:142723871 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.733G>T (p.Val245Leu) single nucleotide variant Inborn genetic diseases [RCV002737463] Chr7:143026400 [GRCh38]
Chr7:142723487 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.157C>T (p.Arg53Cys) single nucleotide variant Inborn genetic diseases [RCV002664535] Chr7:143026976 [GRCh38]
Chr7:142724063 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.184C>T (p.Leu62Phe) single nucleotide variant Inborn genetic diseases [RCV002875497] Chr7:143026949 [GRCh38]
Chr7:142724036 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.689G>A (p.Arg230Gln) single nucleotide variant Inborn genetic diseases [RCV002745218] Chr7:143026444 [GRCh38]
Chr7:142723531 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.712G>A (p.Ala238Thr) single nucleotide variant Inborn genetic diseases [RCV002832579] Chr7:143026421 [GRCh38]
Chr7:142723508 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.218C>T (p.Thr73Ile) single nucleotide variant Inborn genetic diseases [RCV002855913] Chr7:143026915 [GRCh38]
Chr7:142724002 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.457A>G (p.Ile153Val) single nucleotide variant Inborn genetic diseases [RCV002655337] Chr7:143026676 [GRCh38]
Chr7:142723763 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.908G>A (p.Arg303His) single nucleotide variant Inborn genetic diseases [RCV003215410] Chr7:143026225 [GRCh38]
Chr7:142723312 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.196T>C (p.Ser66Pro) single nucleotide variant Inborn genetic diseases [RCV003208609] Chr7:143026937 [GRCh38]
Chr7:142724024 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001658.1(OR9A2):c.860C>G (p.Thr287Ser) single nucleotide variant Inborn genetic diseases [RCV003186041] Chr7:143026273 [GRCh38]
Chr7:142723360 [GRCh37]
Chr7:7q34
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
NM_001001658.1(OR9A2):c.341T>C (p.Met114Thr) single nucleotide variant Inborn genetic diseases [RCV003305131] Chr7:143026792 [GRCh38]
Chr7:142723879 [GRCh37]
Chr7:7q34
uncertain significance
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_001001658.1(OR9A2):c.275A>G (p.Tyr92Cys) single nucleotide variant Inborn genetic diseases [RCV003359384] Chr7:143026858 [GRCh38]
Chr7:142723945 [GRCh37]
Chr7:7q34
likely benign
NM_001001658.1(OR9A2):c.674C>T (p.Pro225Leu) single nucleotide variant Inborn genetic diseases [RCV003361489] Chr7:143026459 [GRCh38]
Chr7:142723546 [GRCh37]
Chr7:7q34
uncertain significance
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 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:126
Count of miRNA genes:124
Interacting mature miRNAs:125
Transcripts:ENST00000350513
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
OR9A2__5780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,723,172 - 142,723,723UniSTSGRCh37
Build 367142,433,294 - 142,433,845RGDNCBI36
Celera7137,560,034 - 137,560,585RGD
HuRef7137,061,430 - 137,061,981UniSTS
CRA_TCAGchr7v27142,125,042 - 142,125,593UniSTS


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
Low 3 12 9 92 7 2 1 3 1
Below cutoff 314 358 195 79 272 21 652 297 1498 25 431 225 59 130 468 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001001658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB065696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB065874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY284292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK004391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP290173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000350513   ⟹   ENSP00000316518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7143,026,200 - 143,027,132 (-)Ensembl
RefSeq Acc Id: NM_001001658   ⟹   NP_001001658
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,026,200 - 143,027,132 (-)NCBI
GRCh377142,723,287 - 142,724,219 (-)RGD
Build 367142,433,409 - 142,434,341 (-)NCBI Archive
Celera7137,560,149 - 137,561,081 (-)RGD
HuRef7137,061,545 - 137,062,477 (-)RGD
CHM1_17142,660,172 - 142,661,104 (-)NCBI
T2T-CHM13v2.07144,381,613 - 144,382,545 (-)NCBI
CRA_TCAGchr7v27142,125,157 - 142,126,089 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_001001658   ⟸   NM_001001658
- UniProtKB: Q6IF71 (UniProtKB/Swiss-Prot),   B9EH51 (UniProtKB/Swiss-Prot),   Q8NGD9 (UniProtKB/Swiss-Prot),   Q8NGT5 (UniProtKB/Swiss-Prot),   A0A126GVB2 (UniProtKB/TrEMBL),   A4D2H9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000316518   ⟸   ENST00000350513
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NGT5-F1-model_v2 AlphaFold Q8NGT5 1-310 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15093 AgrOrtholog
COSMIC OR9A2 COSMIC
Ensembl Genes ENSG00000179468 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000273914 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000350513 ENTREZGENE
  ENST00000350513.3 UniProtKB/Swiss-Prot
  ENST00000619330.2 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179468 GTEx
  ENSG00000273914 GTEx
HGNC ID HGNC:15093 ENTREZGENE
Human Proteome Map OR9A2 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:135924 UniProtKB/Swiss-Prot
NCBI Gene 135924 ENTREZGENE
PANTHER G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORY RECEPTOR 9A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32785 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 A0A126GVB2 ENTREZGENE, UniProtKB/TrEMBL
  A4D2H9 ENTREZGENE, UniProtKB/TrEMBL
  B9EH51 ENTREZGENE
  OR9A2_HUMAN UniProtKB/Swiss-Prot
  Q6IF71 ENTREZGENE
  Q8NGD9 ENTREZGENE
  Q8NGT5 ENTREZGENE
UniProt Secondary B9EH51 UniProtKB/Swiss-Prot
  Q6IF71 UniProtKB/Swiss-Prot
  Q8NGD9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR9A2  olfactory receptor family 9 subfamily A member 2  OR9A2  olfactory receptor, family 9, subfamily A, member 2  Symbol and/or name change 5135510 APPROVED