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 OR5H6 Gene

Aliases for OR5H6 Gene

  • Olfactory Receptor Family 5 Subfamily H Member 6 2 3 5
  • Olfactory Receptor OR3-11 3 4
  • Olfactory Receptor 5H6 3 4
  • Olfactory Receptor, Family 5, Subfamily H, Member 6 (Gene/Pseudogene) 2
  • Olfactory Receptor Family 5 Subfamily H Member 6 (Gene/Pseudogene) 2
  • Olfactory Receptor, Family 5, Subfamily H, Member 6 2
  • OR3-11 3
  • OR5H6 5

External Ids for OR5H6 Gene

Previous GeneCards Identifiers for OR5H6 Gene

  • GC03U990191
  • GC03P099466
  • GC03P097983

Summaries for OR5H6 Gene

Entrez Gene Summary for OR5H6 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

GeneCards Summary for OR5H6 Gene

OR5H6 (Olfactory Receptor Family 5 Subfamily H Member 6) is a Protein Coding gene. Diseases associated with OR5H6 include Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome and Porencephaly. 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 odorant binding. An important paralog of this gene is OR5H14.

UniProtKB/Swiss-Prot Summary for OR5H6 Gene

Gene Wiki entry for OR5H6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR5H6 Gene

Genomics for OR5H6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR5H6 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
GH03J098550 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.7 +291.8 291810 8.2 BCLAF1 SP1 MYC NCOR1 IKZF1 ZNF592 POLR2A BCL11A TARDBP TRIM22 CLDND1 CPOX GPR15 DCBLD2 ST3GAL6-AS1 OR5H6 OR5H2 L13714-325 HSALNG0027490 ENSG00000285635
GH03J098573 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 2.8 +310.3 310251 0.9 ZNF654 ZIC2 REST TRIM22 FEZF1 CTCF RAD21 SMC3 PRDM6 TAF1 CPOX CLDND1 OR5H6 OR5H2 ENSG00000286602 L13714-325 piR-35729-041 ENSG00000285635 GPR15
GH03J098341 Enhancer 0.2 FANTOM5 10.9 +78.0 78048 0 OR5H2 OR5H6 OR5K4 OR5AC2 piR-30791-067 ENSG00000251088
GH03J098240 Enhancer 0.5 Ensembl 0.4 -22.0 -21951 2.6 JUND ATF2 NANOG FOS ATF7 EZH2 OR5H5P OR5H7P ENSG00000251088 piR-36575-044 OR5H6 OR5H15
GH03J098255 Enhancer 0.3 Ensembl ENCODE 0.4 -7.0 -7041 0.8 piR-36575-044 piR-46847-155 piR-61157-033 OR5H2 OR5H5P OR5H6 ENSG00000251088 OR5H15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR5H6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR5H6

Top Transcription factor binding sites by QIAGEN in the OR5H6 gene promoter:
  • E47
  • Evi-1
  • FOXD1
  • GATA-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • Lmo2
  • MyoD
  • TBP

Genomic Locations for OR5H6 Gene

Latest Assembly
chr3:98,263,252-98,265,356
(GRCh38/hg38)
Size:
2,105 bases
Orientation:
Plus strand

Previous Assembly
chr3:97,983,088-97,984,200
(GRCh37/hg19 by Entrez Gene)
Size:
1,113 bases
Orientation:
Plus strand

chr3:97,983,088-97,984,200
(GRCh37/hg19 by Ensembl)
Size:
1,113 bases
Orientation:
Plus strand

Genomic View for OR5H6 Gene

Genes around OR5H6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR5H6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR5H6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR5H6 Gene

Proteins for OR5H6 Gene

  • Protein details for OR5H6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NGV6-OR5H6_HUMAN
    Recommended name:
    Olfactory receptor 5H6
    Protein Accession:
    Q8NGV6
    Secondary Accessions:
    • Q6IF88

    Protein attributes for OR5H6 Gene

    Size:
    325 amino acids
    Molecular mass:
    36713 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05893.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for OR5H6 Gene

Post-translational modifications for OR5H6 Gene

  • Glycosylation at Asn21
  • Modification sites at PhosphoSitePlus

Other Protein References for OR5H6 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR5H6 Gene

Domains & Families for OR5H6 Gene

Gene Families for OR5H6 Gene

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

Protein Domains for OR5H6 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR5H6 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR3-11 (OR5H6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NGV6

UniProtKB/Swiss-Prot:

OR5H6_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 OR5H6: view

Function for OR5H6 Gene

Molecular function for OR5H6 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR5H6 Gene

Gene Ontology (GO) - Molecular Function for OR5H6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity IBA 21873635
GO:0005549 odorant binding IBA 21873635
genes like me logo Genes that share ontologies with OR5H6: view

Phenotypes for OR5H6 Gene

genes like me logo Genes that share phenotypes with OR5H6: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR5H6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR5H6 Gene

Localization for OR5H6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR5H6 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 OR5H6 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR5H6 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 OR5H6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR5H6 Gene

Pathways & Interactions for OR5H6 Gene

genes like me logo Genes that share pathways with OR5H6: view

Pathways by source for OR5H6 Gene

Interacting Proteins for OR5H6 Gene

Gene Ontology (GO) - Biological Process for OR5H6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007608 sensory perception of smell IEA --
GO:0050896 response to stimulus IEA --
GO:0050911 detection of chemical stimulus involved in sensory perception of smell IEA --
genes like me logo Genes that share ontologies with OR5H6: view

No data available for SIGNOR curated interactions for OR5H6 Gene

Drugs & Compounds for OR5H6 Gene

No Compound Related Data Available

Transcripts for OR5H6 Gene

mRNA/cDNA for OR5H6 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR5H6

Alternative Splicing Database (ASD) splice patterns (SP) for OR5H6 Gene

No ASD Table

Relevant External Links for OR5H6 Gene

GeneLoc Exon Structure for
OR5H6

Expression for OR5H6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR5H6 Gene

mRNA differential expression in normal tissues according to GTEx for OR5H6 Gene

This gene is overexpressed in Testis (x17.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR5H6

SOURCE GeneReport for Unigene cluster for OR5H6 Gene:

Hs.554712
genes like me logo Genes that share expression patterns with OR5H6: view

Primer products for research

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR5H6 Gene

Orthologs for OR5H6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR5H6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC738707 29
  • 97.95 (n)
OR5H6 30
  • 97 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Olfr187 29 16
  • 78.39 (n)
Olfr193 30
  • 72 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 75 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 75 (a)
ManyToMany
-- 30
  • 74 (a)
ManyToMany
-- 30
  • 72 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 60 (a)
OneToMany
Species where no ortholog for OR5H6 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 OR5H6 Gene

ENSEMBL:
Gene Tree for OR5H6 (if available)
TreeFam:
Gene Tree for OR5H6 (if available)
Alliance of Genome Resources:
Additional Orthologs for OR5H6

Paralogs for OR5H6 Gene

(454) SIMAP similar genes for OR5H6 Gene using alignment to 1 proteins:

  • OR5H6_HUMAN

Pseudogenes.org Pseudogenes for OR5H6 Gene

genes like me logo Genes that share paralogs with OR5H6: view

Variants for OR5H6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR5H6 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs16846784 -- p.Ser179Leu
rs2173236 -- p.Ser88Leup.Ser88Trp
rs4241472 -- p.Ala46Glu
rs9289564 -- p.Ala145Pro
rs9853887 -- p.Cys195Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR5H6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OR5H6 Gene

Variant ID Type Subtype PubMed ID
dgv4818n100 CNV gain 25217958
esv2725674 CNV deletion 23290073
nsv1000834 CNV gain 25217958
nsv1013060 CNV gain 25217958
nsv834773 CNV gain 17160897
nsv963344 CNV duplication 23825009

Variation tolerance for OR5H6 Gene

Residual Variation Intolerance Score: 89.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.36; 96.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR5H6 Gene

Human Gene Mutation Database (HGMD)
OR5H6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR5H6
Leiden Open Variation Database (LOVD)
OR5H6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR5H6 Gene

Disorders for OR5H6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for OR5H6 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search OR5H6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OR5H6

genes like me logo Genes that share disorders with OR5H6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR5H6 Gene

Publications for OR5H6 Gene

  1. 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
  2. Personal receptor repertoires: olfaction as a model. (PMID: 22908908) Olender T … Lancet D (BMC genomics 2012) 3
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. A probabilistic classifier for olfactory receptor pseudogenes. (PMID: 16939646) Menashe I … Lancet D (BMC bioinformatics 2006) 3
  5. 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) 4

Products for OR5H6 Gene

Sources for OR5H6 Gene