Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone rec... See more...

Aliases for OR2H2 Gene

Aliases for OR2H2 Gene

  • Olfactory Receptor Family 2 Subfamily H Member 2 2 3 5
  • Hs6M1-12 2 3 4
  • Olfactory Receptor-Like Protein FAT11 3 4
  • Olfactory Receptor 2H2 3 4
  • Olfactory Receptor 2H3 3 4
  • FAT11 3 4
  • OLFR2 3 4
  • OR2H3 3 4
  • Olfactory Receptor, Family 2, Subfamily H, Member 2 2
  • Olfactory Receptor, Family 2, Subfamily H, Member 3 3
  • Olfactory Receptor OR6-36 3
  • Olfactory Receptor 2 3
  • DJ271M21.2 3
  • OLFR42B 3
  • OR2H2 5

External Ids for OR2H2 Gene

Previous GeneCards Identifiers for OR2H2 Gene

  • GC06U990208
  • GC06P029666
  • GC06P029650
  • GC06P029667
  • GC06P029555
  • GC06P029636
  • GC06P030071
  • GC06P032160
  • GC06P032406
  • GC06P032484
  • GC06P033154
  • GC06P030322
  • GC06P030474
  • GC06P030669
  • GC06P030836
  • GC06P030998
  • GC06P031155
  • GC06P031322
  • GC06P031567

Summaries for OR2H2 Gene

Entrez Gene Summary for OR2H2 Gene

  • Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

GeneCards Summary for OR2H2 Gene

OR2H2 (Olfactory Receptor Family 2 Subfamily H Member 2) is a Protein Coding gene. Diseases associated with OR2H2 include Acute Pulmonary Heart Disease and Acute Cor Pulmonale. Among its related pathways are Signaling by GPCR and Olfactory transduction. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR2H1.

UniProtKB/Swiss-Prot Summary for OR2H2 Gene

Gene Wiki entry for OR2H2 Gene

Additional gene information for OR2H2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR2H2 Gene

Genomics for OR2H2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR2H2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J029626 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.9 +45.4 45411 8.7 ARHGAP35 CREB1 CTCF PRDM10 ZNF629 ZNF512 IKZF1 ZNF692 JUND PRDM1 GABBR1 TRIM39 POLR1H ABCF1 PAIP1P1 ETF1P1 HLA-H PPP1R10 ZFP57 TRIM26
GH06J029963 Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.7 +381.1 381128 4.8 SP1 HNRNPL GATAD2A PRDM10 ZNF629 REST TFE3 ZNF512 LEF1 SOX13 HLA-A HLA-K ENSG00000237669 PPP1R10 POLR1H HLA-W TRIM26 PAIP1P1 TRIM39 HLA-H
GH06J029516 Enhancer 0.8 Ensembl 9.9 -68.7 -68669 0.7 PRDM10 ZNF629 ZNF692 ZIC2 ZNF600 ZNF561 SCRT2 ZBTB44 KLF9 ARID3A ZFP57 OR11A1 OR2H1 OR5V1 OR2H2 HLA-W piR-37170-058 LINC02829 MAS1L UBD
GH06J029657 Promoter/Enhancer 0.8 EPDnew Ensembl dbSUPER 9.2 +71.1 71080 2 MEF2D MOG ZFP57 HLA-H GABBR1 ZNRD1ASP OR2H2 lnc-GABBR1-2
GH06J029510 Enhancer 0.6 Ensembl 10.1 -74.8 -74820 0.2 PRDM10 ZIC2 ZNF561 RAD21 CTCF ZBTB48 HIC1 BHLHE40 ZNF366 GLIS1 OR11A1 OR2H1 OR5V1 OR10C1 OR2H2 HLA-W MAS1LP1 piR-37170-058 LINC02829 MAS1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR2H2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR2H2

Top Transcription factor binding sites by QIAGEN in the OR2H2 gene promoter:
  • E47
  • Egr-3
  • Hand1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • YY1

Genomic Locations for OR2H2 Gene

Genomic Locations for OR2H2 Gene
chr6:29,585,121-29,592,506
(GRCh38/hg38)
Size:
7,386 bases
Orientation:
Plus strand
chr6:29,555,683-29,556,745
(GRCh37/hg19)
Size:
1,063 bases
Orientation:
Plus strand

Genomic View for OR2H2 Gene

Genes around OR2H2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR2H2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR2H2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for OR2H2 Gene

  • Protein details for OR2H2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95918-OR2H2_HUMAN
    Recommended name:
    Olfactory receptor 2H2
    Protein Accession:
    O95918
    Secondary Accessions:
    • Q15062
    • Q2M1Y3
    • Q5STL8
    • Q5SUK1
    • Q6IFN7
    • Q6NTB7
    • Q96R14

    Protein attributes for OR2H2 Gene

    Size:
    312 amino acids
    Molecular mass:
    34763 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR2H2 Gene

Post-translational modifications for OR2H2 Gene

  • Glycosylation at Asn3
  • Modification sites at PhosphoSitePlus

Other Protein References for OR2H2 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR2H2 Gene

Domains & Families for OR2H2 Gene

Gene Families for OR2H2 Gene

HGNC:
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for OR2H2 Gene

InterPro:
Blocks:
  • Olfactory receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for OR2H2 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor-like protein FAT11 (OR2H2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95918

UniProtKB/Swiss-Prot:

OR2H2_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with OR2H2: view

Function for OR2H2 Gene

Molecular function for OR2H2 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.
GENATLAS Biochemistry:
olfactory receptor,family 2,subfamily H,member 2,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for OR2H2 Gene

Gene Ontology (GO) - Molecular Function for OR2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity TAS,IEA --
genes like me logo Genes that share ontologies with OR2H2: view
genes like me logo Genes that share phenotypes with OR2H2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR2H2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR2H2 Gene

Localization for OR2H2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR2H2 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OR2H2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for OR2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OR2H2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR2H2 Gene

Pathways & Interactions for OR2H2 Gene

genes like me logo Genes that share pathways with OR2H2: view

Pathways by source for OR2H2 Gene

1 KEGG pathway for OR2H2 Gene

Interacting Proteins for OR2H2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 23)
STRING Interaction Network
Selected Interacting proteins: ENSP00000373136 O95918-OR2H2_HUMAN for OR2H2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for OR2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response TAS 7665158
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007608 sensory perception of smell IEA --
GO:0007618 mating TAS 7665158
genes like me logo Genes that share ontologies with OR2H2: view

No data available for SIGNOR curated interactions for OR2H2 Gene

Drugs & Compounds for OR2H2 Gene

No Compound Related Data Available

Transcripts for OR2H2 Gene

mRNA/cDNA for OR2H2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR2H2

Alternative Splicing Database (ASD) splice patterns (SP) for OR2H2 Gene

No ASD Table

Relevant External Links for OR2H2 Gene

GeneLoc Exon Structure for
OR2H2

Expression for OR2H2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR2H2 Gene

mRNA differential expression in normal tissues according to GTEx for OR2H2 Gene

This gene is overexpressed in Testis (x6.4), Brain - Putamen (basal ganglia) (x5.1), Brain - Nucleus accumbens (basal ganglia) (x5.0), and Brain - Caudate (basal ganglia) (x4.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR2H2

SOURCE GeneReport for Unigene cluster for OR2H2 Gene:

Hs.529493

Evidence on tissue expression from TISSUES for OR2H2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with OR2H2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR2H2 Gene

Orthologs for OR2H2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR2H2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC100615382 30
  • 97.01 (n)
OR2H2 31
  • 95 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Olr1750 30
  • 86.86 (n)
Mouse
(Mus musculus)
Mammalia Or2h2 46 Olfr90 30 17
  • 85.88 (n)
Olfr132 31
  • 60 (a)
ManyToMany
Or2h2b-ps 46 Olfr753-ps1
  • chr17:37,169,711-37,170,646
Or2h2c 46 Olfr92
  • chr17:37,111,045-37,111,980
Cow
(Bos Taurus)
Mammalia -- 31
  • 84 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 58 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 52 (a)
OneToMany
Species where no ortholog for OR2H2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for OR2H2 Gene

ENSEMBL:
Gene Tree for OR2H2 (if available)
TreeFam:
Gene Tree for OR2H2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR2H2: view image

Paralogs for OR2H2 Gene

(449) SIMAP similar genes for OR2H2 Gene using alignment to 1 proteins:

  • OR2H2_HUMAN
genes like me logo Genes that share paralogs with OR2H2: view

Variants for OR2H2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR2H2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs3129034 -. - p.Leu30Ilep.Leu30Phe
rs11966382 - p.Val38Met
rs1233387 - p.Ala48Val
rs141430371 - p.Thr220Ala
VAR_010227 - p.Leu30Ser

Additional dbSNP identifiers (rs#s) for OR2H2 Gene

Structural Variations from Database of Genomic Variants (DGV) for OR2H2 Gene

Variant ID Type Subtype PubMed ID
esv2759411 CNV gain+loss 17122850
esv3608481 CNV loss 21293372
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1145096 CNV deletion 24896259
nsv519288 CNV loss 19592680
nsv5239 CNV deletion 18451855
nsv970099 CNV duplication 23825009

Variation tolerance for OR2H2 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.63; 86.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR2H2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR2H2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR2H2 Gene

Disorders for OR2H2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for OR2H2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acute pulmonary heart disease
acute cor pulmonale
intestinal tuberculosis
  • tuberculosis of intestine
gastrointestinal tuberculosis
  • tuberculosis of gastrointestinal tract
abdominal tuberculosis
- elite association - COSMIC cancer census association via MalaCards
Search OR2H2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OR2H2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with OR2H2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR2H2 Gene

Publications for OR2H2 Gene

  1. Sequence variations at the human leukocyte antigen-linked olfactory receptor cluster do not influence female preferences for male odors. (PMID: 19833159) Thompson EE … Ober C (Human immunology 2010) 3 41
  2. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41
  3. SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians. (PMID: 17971048) Burfoot RK … Rubio JP (Tissue antigens 2008) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The human olfactory receptor gene family. (PMID: 14983052) Malnic B … Buck LB (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4

Products for OR2H2 Gene

Sources for OR2H2 Gene