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 OR12D3 Gene

Aliases for OR12D3 Gene

  • Olfactory Receptor Family 12 Subfamily D Member 3 2 3 5
  • Hs6M1-27 2 3 4
  • Olfactory Receptor OR6-27 3 4
  • Olfactory Receptor 12D3 3 4
  • Olfactory Receptor, Family 12, Subfamily D, Member 3 2
  • OR12D3 5

External Ids for OR12D3 Gene

Previous GeneCards Identifiers for OR12D3 Gene

  • GC06M029399
  • GC06M029449
  • GC06M029346
  • GC06M029237
  • GC06Mo29271

Summaries for OR12D3 Gene

Entrez Gene Summary for OR12D3 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 OR12D3 Gene

OR12D3 (Olfactory Receptor Family 12 Subfamily D Member 3) is a Protein Coding gene. Diseases associated with OR12D3 include Ichthyosis, Congenital, Autosomal Recessive 11 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is OR12D2.

UniProtKB/Swiss-Prot Summary for OR12D3 Gene

Gene Wiki entry for OR12D3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR12D3 Gene

Genomics for OR12D3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR12D3 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
GH06J029477 Enhancer 0.2 FANTOM5 10.9 -102.8 -102807 0.6 HSALNG0049060-001 lnc-MAS1L-1 MAS1L OR12D3 OR5V1 UBD LINC01015 OR2H2 OR14J1 MAS1LP1
GH06J029394 Enhancer 0.2 Ensembl 0.4 -19.6 -19610 0.2 OR12D2 OR10C1 OR5V1 OR11A1 OR2H1 GABBR1 SUMO2P1 OR2H2 MICD ZFP57
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR12D3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR12D3

Top Transcription factor binding sites by QIAGEN in the OR12D3 gene promoter:
  • FOXF2
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • STAT5A
  • TBP

Genomic Locations for OR12D3 Gene

Latest Assembly
chr6:29,373,423-29,375,291
(GRCh38/hg38)
Size:
1,869 bases
Orientation:
Minus strand

Previous Assembly
chr6:29,341,200-29,343,068
(GRCh37/hg19 by Entrez Gene)
Size:
1,869 bases
Orientation:
Minus strand

chr6:29,341,200-29,343,068
(GRCh37/hg19 by Ensembl)
Size:
1,869 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_2):860,028-861,896 (-)
  • chr6(ALT_REF_LOCI_3):639,071-640,939 (-)
  • chr6(ALT_REF_LOCI_4):638,713-640,581 (-)
  • chr6(ALT_REF_LOCI_5):638,936-640,804 (-)
  • chr6(ALT_REF_LOCI_7):682,548-684,416 (-)

Genomic View for OR12D3 Gene

Genes around OR12D3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR12D3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR12D3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for OR12D3 Gene

  • Protein details for OR12D3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGF7-O12D3_HUMAN
    Recommended name:
    Olfactory receptor 12D3
    Protein Accession:
    Q9UGF7
    Secondary Accessions:
    • A2BDZ1
    • Q5SQI8
    • Q6IF23

    Protein attributes for OR12D3 Gene

    Size:
    316 amino acids
    Molecular mass:
    35791 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR12D3 Gene

Post-translational modifications for OR12D3 Gene

  • Glycosylation at Asn3

Other Protein References for OR12D3 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR12D3 Gene

Domains & Families for OR12D3 Gene

Gene Families for OR12D3 Gene

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

Protein Domains for OR12D3 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR12D3 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor, family 12, subfamily D, member 3 (D2XT27_HUMAN)
  • Olfactory receptor OR6-27 (O12D3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UGF7

UniProtKB/Swiss-Prot:

O12D3_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 OR12D3: view

Function for OR12D3 Gene

Molecular function for OR12D3 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR12D3 Gene

Gene Ontology (GO) - Molecular Function for OR12D3 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 OR12D3: view
genes like me logo Genes that share phenotypes with OR12D3: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR12D3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR12D3 Gene

Localization for OR12D3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR12D3 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 OR12D3 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR12D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with OR12D3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR12D3 Gene

Pathways & Interactions for OR12D3 Gene

genes like me logo Genes that share pathways with OR12D3: view

Pathways by source for OR12D3 Gene

1 BioSystems pathway for OR12D3 Gene
1 KEGG pathway for OR12D3 Gene

Interacting Proteins for OR12D3 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 23)
STRING Interaction Network
Selected Interacting proteins: ENSP00000380023 Q9UGF7-O12D3_HUMAN for OR12D3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for OR12D3 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 IBA 21873635
genes like me logo Genes that share ontologies with OR12D3: view

No data available for SIGNOR curated interactions for OR12D3 Gene

Drugs & Compounds for OR12D3 Gene

No Compound Related Data Available

Transcripts for OR12D3 Gene

mRNA/cDNA for OR12D3 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 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 OR12D3

Alternative Splicing Database (ASD) splice patterns (SP) for OR12D3 Gene

No ASD Table

Relevant External Links for OR12D3 Gene

GeneLoc Exon Structure for
OR12D3

Expression for OR12D3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR12D3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR12D3

SOURCE GeneReport for Unigene cluster for OR12D3 Gene:

Hs.272280
genes like me logo Genes that share expression patterns with OR12D3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 OR12D3 Gene

Orthologs for OR12D3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OR12D3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC471938 29
  • 99.5 (n)
Cow
(Bos Taurus)
Mammalia OR12D3 29 30
  • 83.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Or12d17 45 Olfr109 29 16 30
  • 80.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Olr1868 29
  • 80.32 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 62 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 39 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 58 (a)
OneToMany
Species where no ortholog for OR12D3 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)
  • 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 OR12D3 Gene

ENSEMBL:
Gene Tree for OR12D3 (if available)
TreeFam:
Gene Tree for OR12D3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR12D3: view image
Alliance of Genome Resources:
Additional Orthologs for OR12D3

Paralogs for OR12D3 Gene

(446) SIMAP similar genes for OR12D3 Gene using alignment to 3 proteins:

  • O12D3_HUMAN
  • D2XT27_HUMAN
  • L8ECK8_HUMAN
genes like me logo Genes that share paralogs with OR12D3: view

Variants for OR12D3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR12D3 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs545611345 A breast cancer sample p.Phe250Leu
rs3749971 -- p.Thr97Ile
rs9380122 -- p.Tyr277His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR12D3 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 OR12D3 Gene

Variant ID Type Subtype PubMed ID
dgv10338n54 CNV gain 21841781
esv3608477 CNV loss 21293372
nsv1015796 CNV gain 25217958
nsv1020683 CNV gain 25217958
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1145096 CNV deletion 24896259
nsv601223 CNV loss 21841781
nsv830624 CNV loss 17160897

Variation tolerance for OR12D3 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR12D3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR12D3
Leiden Open Variation Database (LOVD)
OR12D3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR12D3 Gene

Disorders for OR12D3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for OR12D3 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OR12D3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OR12D3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR12D3 Gene

Publications for OR12D3 Gene

  1. Host determinants of HIV-1 control in African Americans. (PMID: 20205591) Pelak K … National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology (CHAVI) (The Journal of infectious diseases 2010) 3 40
  2. Refining the association of MHC with multiple sclerosis in African Americans. (PMID: 20466734) McElroy JP … Gourraud PA (Human molecular genetics 2010) 3 40
  3. 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 40
  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 OR12D3 Gene

Sources for OR12D3 Gene