OR12D2 Gene (Protein Coding)

Olfactory Receptor Family 12 Subfamily D Member 2

GC06P051880
GIFtS:
31
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 OR12D2 Gene

Aliases for OR12D2 Gene

  • Olfactory Receptor Family 12 Subfamily D Member 2 2 3 5
  • Olfactory Receptor OR6-28 3 4
  • Olfactory Receptor 12D2 3 4
  • Hs6M1-20 2 4
  • Olfactory Receptor, Family 12, Subfamily D, Member 2 (Gene/Pseudogene) 2
  • Olfactory Receptor Family 12 Subfamily D Member 2 (Gene/Pseudogene) 2
  • Olfactory Receptor, Family 12, Subfamily D, Member 2 2
  • DJ994E9.8 3
  • HS6M1-20 3
  • OR12D2 5

External Ids for OR12D2 Gene

Previous GeneCards Identifiers for OR12D2 Gene

  • GC06P029421
  • GC06P029135
  • GC06P029472
  • GC06P029364
  • GC06P029172
  • GC06P029401
  • GC06P029403
  • GC06P029410
  • GC06P029411
  • GC06P029409
  • GC06P029408
  • GC06P029405
  • GC06P029406
  • GC06P049236

Summaries for OR12D2 Gene

Entrez Gene Summary for OR12D2 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, Jun 2015]

GeneCards Summary for OR12D2 Gene

OR12D2 (Olfactory Receptor Family 12 Subfamily D Member 2) is a Protein Coding gene. Diseases associated with OR12D2 include Deafness, Autosomal Dominant 13. 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 transmembrane signaling receptor activity. An important paralog of this gene is OR12D3.

UniProtKB/Swiss-Prot Summary for OR12D2 Gene

Gene Wiki entry for OR12D2 Gene

Additional gene information for OR12D2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR12D2 Gene

Genomics for OR12D2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for OR12D2 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
GH06J029394 Enhancer 0.2 Ensembl 250.7 -0.7 -730 0.2 OR12D2 OR10C1 OR5V1 OR11A1 OR2H1 GABBR1 SUMO2P1 OR2H2 MICD ZFP57
GH06J029467 Enhancer 0.2 FANTOM5 2.5 +72.1 72068 0.3 OR10C1 ZFP57 MAS1L OR11A1 OR14J1 OR2W1 OR2J3 OR2B3 OR12D2 OR5V1
GH06J029414 Enhancer 0.4 Ensembl 0.4 +19.3 19270 0.2 CTCF SCRT1 RAD21 SCRT2 OR12D1 OR10C1 OR5V1 OR11A1 OR2H1 OR12D2 LOC105379641
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR12D2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR12D2

Top Transcription factor binding sites by QIAGEN in the OR12D2 gene promoter:
  • AML1a
  • Brachyury
  • FOXF2
  • GR
  • GR-alpha
  • GR-beta
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for OR12D2 Gene

Latest Assembly
chr6:29,395,631-29,398,008
(GRCh38/hg38)
Size:
2,378 bases
Orientation:
Plus strand

Previous Assembly
chr6:29,363,408-29,365,785
(GRCh37/hg19 by Entrez Gene)
Size:
2,378 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_2):882,235-884,469 (+)
  • chr6(ALT_REF_LOCI_3):661,283-663,517 (+)
  • chr6(ALT_REF_LOCI_4):660,919-663,153 (+)
  • chr6(ALT_REF_LOCI_5):661,148-663,382 (+)
  • chr6(ALT_REF_LOCI_7):704,779-707,013 (+)

Genomic View for OR12D2 Gene

Genes around OR12D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR12D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR12D2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

Proteins for OR12D2 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for OR12D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58182-O12D2_HUMAN
    Recommended name:
    Olfactory receptor 12D2
    Protein Accession:
    P58182
    Secondary Accessions:
    • B0S862
    • Q5SUN9
    • Q6IET9

    Protein attributes for OR12D2 Gene

    Size:
    307 amino acids
    Molecular mass:
    34813 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR12D2 Gene

Post-translational modifications for OR12D2 Gene

  • Glycosylation at Asn3
  • Modification sites at PhosphoSitePlus

Other Protein References for OR12D2 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR12D2 Gene

Domains & Families for OR12D2 Gene

Gene Families for OR12D2 Gene

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

Protein Domains for OR12D2 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR12D2 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR6-28 (O12D2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P58182

UniProtKB/Swiss-Prot:

O12D2_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 OR12D2: view

Function for OR12D2 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for OR12D2 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.
GENATLAS Biochemistry:
olfactory receptor,family 12,subfamily D,member 2,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for OR12D2 Gene

Gene Ontology (GO) - Molecular Function for OR12D2 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 OR12D2: view
genes like me logo Genes that share phenotypes with OR12D2: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR12D2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR12D2 Gene

Localization for OR12D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR12D2 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 OR12D2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR12D2 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 OR12D2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR12D2 Gene

Pathways & Interactions for OR12D2 Gene

genes like me logo Genes that share pathways with OR12D2: view

Pathways by source for OR12D2 Gene

1 KEGG pathway for OR12D2 Gene

Interacting Proteins for OR12D2 Gene

Selected Interacting proteins: P58182-O12D2_HUMAN for OR12D2 Gene via IID

GPS-Prot Interaction Network for OR12D2

Gene Ontology (GO) - Biological Process for OR12D2 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 OR12D2: view

No data available for SIGNOR curated interactions for OR12D2 Gene

Drugs & Compounds for OR12D2 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for OR12D2 Gene

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mRNA/cDNA for OR12D2 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 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 OR12D2

Alternative Splicing Database (ASD) splice patterns (SP) for OR12D2 Gene

No ASD Table

Relevant External Links for OR12D2 Gene

GeneLoc Exon Structure for
OR12D2

Expression for OR12D2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR12D2 Gene

mRNA expression in normal human tissues for OR12D2 Gene
mRNA expression by BioGPS for OR12D2 GenemRNA expression by GTEx for OR12D2 Gene

mRNA differential expression in normal tissues according to GTEx for OR12D2 Gene

This gene is overexpressed in Brain - Hypothalamus (x13.9), Brain - Caudate (basal ganglia) (x10.7), Brain - Hippocampus (x8.2), Brain - Nucleus accumbens (basal ganglia) (x5.0), and Cervix - Endocervix (x4.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR12D2

SOURCE GeneReport for Unigene cluster for OR12D2 Gene:

Hs.247862

Evidence on tissue expression from TISSUES for OR12D2 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with OR12D2: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR12D2 Gene

Orthologs for OR12D2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OR12D2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LOC471939 29
  • 98.91 (n)
Mouse
(Mus musculus)
 Mammalia Or12d2 45 Olfr102 29 16
  • 80.83 (n)
Or12d12 45 Olfr101 16
Or12d13 45 Olfr103
  • chr17:37,336,292-37,337,230
Or12d14-ps 45 Olfr104-ps1
  • chr17:37,362,158-37,363,084
Or12d15 45 Olfr105
  • chr17:37,382,641-37,383,483
Or12d16-ps 45 Olfr106-ps1
  • chr17:37,394,581-37,395,507
Rat
(Rattus norvegicus)
 Mammalia Olr1736 29
  • 80.39 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100497240 29
  • 58.97 (n)
Species where no ortholog for OR12D2 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)
  • Cow (Bos Taurus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for OR12D2 Gene

ENSEMBL:
Gene Tree for OR12D2 (if available)
TreeFam:
Gene Tree for OR12D2 (if available)
Alliance of Genome Resources:
Additional Orthologs for OR12D2

Paralogs for OR12D2 Gene

Paralogs for OR12D2 Gene

(449) SIMAP similar genes for OR12D2 Gene using alignment to 1 proteins:

  • O12D2_HUMAN
genes like me logo Genes that share paralogs with OR12D2: view

Variants for OR12D2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR12D2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs886043176 Uncertain Significance: not provided 29,397,420(+) GC/G
NM_013936.3(OR12D2):c.723del (p.Ser242fs) 		FRAMESHIFT
rs11752608 -- p.Val132Gly
rs2073151 -- p.Val159Ile
rs2073152 -- p.Ser121Cys
rs2073153 -- p.Leu120Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR12D2 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 OR12D2 Gene

Variant ID Type Subtype PubMed ID
dgv10340n54 CNV loss 21841781
esv2639371 CNV deletion 19546169
esv2667426 CNV deletion 23128226
esv2731760 CNV deletion 23290073
esv2731763 CNV deletion 23290073
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1145096 CNV deletion 24896259
nsv830624 CNV loss 17160897

Variation tolerance for OR12D2 Gene

Residual Variation Intolerance Score: 95.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.44; 97.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR12D2 Gene

Human Gene Mutation Database (HGMD)
OR12D2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR12D2
Leiden Open Variation Database (LOVD)
OR12D2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR12D2 Gene

Disorders for OR12D2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OR12D2 Gene - From: COP

Disorder Aliases PubMed IDs
deafness, autosomal dominant 13
  • dfna13
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OR12D2

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 OR12D2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR12D2 Gene

Publications for OR12D2 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 40
  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 40
  3. 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
  4. 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
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

ExternalLinks

View latest publications for OR12D2 gene in Mastermind

Products for OR12D2 Gene

Sources for OR12D2 Gene