OR2A4 (olfactory receptor family 2 subfamily A member 4) - Rat Genome Database

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Gene: OR2A4 (olfactory receptor family 2 subfamily A member 4) Homo sapiens
Analyze
No known orthologs.
Symbol: OR2A4
Name: olfactory receptor family 2 subfamily A member 4
RGD ID: 1352196
HGNC Page HGNC:14729
Description: Predicted to enable odorant binding activity and olfactory receptor activity. Involved in positive regulation of cytokinesis and regulation of actin cytoskeleton organization. Located in several cellular components, including Flemming body; cleavage furrow; and mitotic spindle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: olfactory receptor 2A10; olfactory receptor 2A4; olfactory receptor OR6-37; olfactory receptor, family 2, subfamily A, member 10; olfactory receptor, family 2, subfamily A, member 4; OR2A10; OR2A7
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386131,699,644 - 131,701,401 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6131,699,644 - 131,701,401 (-)EnsemblGRCh38hg38GRCh38
GRCh376132,020,784 - 132,022,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366132,063,302 - 132,064,234 (-)NCBINCBI36Build 36hg18NCBI36
Build 346132,063,301 - 132,064,234NCBI
Celera6132,768,253 - 132,769,185 (-)NCBICelera
Cytogenetic Map6q23.2NCBI
HuRef6129,603,346 - 129,604,278 (-)NCBIHuRef
CHM1_16132,285,391 - 132,286,323 (-)NCBICHM1_1
T2T-CHM13v2.06132,894,117 - 132,895,874 (-)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

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:8889548   PMID:10737800   PMID:12477932   PMID:14574404   PMID:14983052   PMID:15489334   PMID:16344560   PMID:21873635   PMID:22888021   PMID:27315375   PMID:33961781  


Genomics

Variants

.
Variants in OR2A4
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3		 pathogenic
GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3 copy number gain not specified [RCV003986663] Chr6:131569837..145572239 [GRCh37]
Chr6:6q23.2-24.2		 pathogenic
GRCh37/hg19 6q23.1-23.2(chr6:130983223-132108647)x3 copy number gain not specified [RCV003986670] Chr6:130983223..132108647 [GRCh37]
Chr6:6q23.1-23.2		 uncertain significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
NM_030908.2(OR2A4):c.835C>T (p.Leu279Phe) single nucleotide variant Malignant melanoma [RCV000061314] Chr6:131700567 [GRCh38]
Chr6:132021707 [GRCh37]
Chr6:132063400 [NCBI36]
Chr6:6q23.2		 not provided
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1 copy number loss See cases [RCV000142349] Chr6:129191313..132131620 [GRCh38]
Chr6:129512458..132452760 [GRCh37]
Chr6:129554151..132494453 [NCBI36]
Chr6:6q22.33-23.2		 likely pathogenic
GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1 copy number loss See cases [RCV000142805] Chr6:126494533..132497855 [GRCh38]
Chr6:126815679..132818994 [GRCh37]
Chr6:126857372..132860687 [NCBI36]
Chr6:6q22.32-23.2		 likely pathogenic
GRCh37/hg19 6q23.2(chr6:131624204-132219490)x3 copy number gain See cases [RCV000447116] Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q23.2(chr6:131605284-132219490)x1 copy number loss See cases [RCV000511614] Chr6:131605284..132219490 [GRCh37]
Chr6:6q23.2		 likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q23.2(chr6:131703293-132212694)x3 copy number gain See cases [RCV000599566] Chr6:131703293..132212694 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2		 drug response
GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1 copy number loss not provided [RCV000682724] Chr6:131388023..137469640 [GRCh37]
Chr6:6q23.2-23.3		 pathogenic
GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1 copy number loss not provided [RCV000682725] Chr6:132002460..137160850 [GRCh37]
Chr6:6q23.2-23.3		 pathogenic
GRCh37/hg19 6q23.2(chr6:131957855-132424554)x3 copy number gain not provided [RCV000746036] Chr6:131957855..132424554 [GRCh37]
Chr6:6q23.2		 benign
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991) copy number loss not provided [RCV000767715] Chr6:129513837..132618991 [GRCh37]
Chr6:6q22.33-23.2		 likely pathogenic
GRCh37/hg19 6q23.2(chr6:131958069-132444234)x3 copy number gain not provided [RCV000848075] Chr6:131958069..132444234 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1 copy number loss not provided [RCV000848451] Chr6:131673206..132706248 [GRCh37]
Chr6:6q23.2		 uncertain significance
NC_000006.11:g.(?_131894423)_(132211651_?)dup duplication Arginase deficiency [RCV001294718] Chr6:131894423..132211651 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q23.2(chr6:131958038-132444269)x3 copy number gain not provided [RCV001834442] Chr6:131958038..132444269 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1 copy number loss not provided [RCV001829086] Chr6:130769034..136009217 [GRCh37]
Chr6:6q23.1-23.3		 pathogenic
GRCh37/hg19 6q23.2(chr6:131624204-132219490) copy number gain not specified [RCV002053623] Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2		 uncertain significance
NC_000006.12:g.131688637_132215008del deletion Arterial calcification, generalized, of infancy, 1 [RCV002273892] Chr6:131688637..132215008 [GRCh38]
Chr6:6q23.2		 pathogenic
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2		 pathogenic
NM_030908.2(OR2A4):c.705A>T (p.Lys235Asn) single nucleotide variant not specified [RCV004126552] Chr6:131700697 [GRCh38]
Chr6:132021837 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.163C>T (p.His55Tyr) single nucleotide variant not specified [RCV004132276] Chr6:131701239 [GRCh38]
Chr6:132022379 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.17C>T (p.Thr6Ile) single nucleotide variant not specified [RCV004199828] Chr6:131701385 [GRCh38]
Chr6:132022525 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.748G>T (p.Val250Phe) single nucleotide variant not specified [RCV004181886] Chr6:131700654 [GRCh38]
Chr6:132021794 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.254T>G (p.Leu85Arg) single nucleotide variant not specified [RCV004134193] Chr6:131701148 [GRCh38]
Chr6:132022288 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.553A>G (p.Lys185Glu) single nucleotide variant not specified [RCV004147077] Chr6:131700849 [GRCh38]
Chr6:132021989 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.803A>G (p.Glu268Gly) single nucleotide variant not specified [RCV004218109] Chr6:131700599 [GRCh38]
Chr6:132021739 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1 copy number loss not provided [RCV004577479] Chr6:129969121..132499298 [GRCh37]
Chr6:6q22.33-23.2		 uncertain significance
NM_030908.2(OR2A4):c.274T>A (p.Ser92Thr) single nucleotide variant not specified [RCV004281217] Chr6:131701128 [GRCh38]
Chr6:132022268 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.583G>A (p.Glu195Lys) single nucleotide variant not specified [RCV004332570] Chr6:131700819 [GRCh38]
Chr6:132021959 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q23.2(chr6:131624205-132219490)x3 copy number gain not provided [RCV003484651] Chr6:131624205..132219490 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 copy number loss not provided [RCV003482930] Chr6:120218852..137160850 [GRCh37]
Chr6:6q22.31-23.3		 pathogenic
NM_030908.2(OR2A4):c.541T>G (p.Leu181Val) single nucleotide variant not specified [RCV004501878] Chr6:131700861 [GRCh38]
Chr6:132022001 [GRCh37]
Chr6:6q23.2		 likely benign
NM_030908.2(OR2A4):c.86T>C (p.Leu29Pro) single nucleotide variant not specified [RCV004501879] Chr6:131701316 [GRCh38]
Chr6:132022456 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.899T>C (p.Leu300Ser) single nucleotide variant not specified [RCV004501880] Chr6:131700503 [GRCh38]
Chr6:132021643 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.52G>A (p.Val18Ile) single nucleotide variant not specified [RCV004501877] Chr6:131701350 [GRCh38]
Chr6:132022490 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_030908.2(OR2A4):c.281C>T (p.Ala94Val) single nucleotide variant not specified [RCV004501876] Chr6:131701121 [GRCh38]
Chr6:132022261 [GRCh37]
Chr6:6q23.2		 uncertain significance
NC_000006.11:g.(?_131894423)_(133849943_?)del deletion not provided [RCV004578838] Chr6:131894423..133849943 [GRCh37]
Chr6:6q23.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:132
Count of miRNA genes:132
Interacting mature miRNAs:132
Transcripts:ENST00000315453
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

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
246 489 458 239 775 393 536 183 202 78 543 1114 987 11 385 272 592 351 105

Sequence


Ensembl Acc Id: ENST00000315453   ⟹   ENSP00000319546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,699,644 - 131,701,401 (-)Ensembl
RefSeq Acc Id: NM_030908   ⟹   NP_112170
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,699,644 - 131,701,401 (-)NCBI
GRCh376132,021,609 - 132,022,541 (-)RGD
Build 366132,063,302 - 132,064,234 (-)NCBI Archive
Celera6132,768,253 - 132,769,185 (-)RGD
HuRef6129,603,346 - 129,604,278 (-)ENTREZGENE
CHM1_16132,284,559 - 132,286,323 (-)NCBI
T2T-CHM13v2.06132,894,117 - 132,895,874 (-)NCBI
Sequence:
RefSeq Acc Id: NP_112170   ⟸   NM_030908
- UniProtKB: Q6IF18 (UniProtKB/Swiss-Prot),   Q0VAR3 (UniProtKB/Swiss-Prot),   Q9NQN0 (UniProtKB/Swiss-Prot),   O95047 (UniProtKB/Swiss-Prot),   A0A126GVW2 (UniProtKB/TrEMBL),   A0A126GVA9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000319546   ⟸   ENST00000315453
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95047-F1-model_v2 AlphaFold O95047 1-310 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14729 AgrOrtholog
COSMIC OR2A4 COSMIC
Ensembl Genes ENSG00000180658 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000315453 ENTREZGENE
  ENST00000315453.4 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000180658 GTEx
HGNC ID HGNC:14729 ENTREZGENE
Human Proteome Map OR2A4 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:79541 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79541 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 PA32117 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
  A0A126GVW2 ENTREZGENE, UniProtKB/TrEMBL
  O95047 ENTREZGENE, UniProtKB/Swiss-Prot
  Q0VAR3 ENTREZGENE
  Q6IF18 ENTREZGENE
  Q9NQN0 ENTREZGENE
UniProt Secondary Q0VAR3 UniProtKB/Swiss-Prot
  Q6IF18 UniProtKB/Swiss-Prot
  Q9NQN0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR2A4  olfactory receptor family 2 subfamily A member 4  OR2A4  olfactory receptor, family 2, subfamily A, member 4  Symbol and/or name change 5135510 APPROVED