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 OR2T12 Gene

Aliases for OR2T12 Gene

  • Olfactory Receptor Family 2 Subfamily T Member 12 2 3 5
  • Olfactory Receptor OR1-57 3 4
  • Olfactory Receptor 2T12 3 4
  • Novel 7 Transmembrane Receptor (Rhodopsin Family) Protein 3
  • Olfactory Receptor, Family 2, Subfamily T, Member 12 2
  • OR1-57 3
  • OR2T12 5

External Ids for OR2T12 Gene

Previous GeneCards Identifiers for OR2T12 Gene

  • GC00U903057
  • GC01M245356
  • GC01M244785
  • GC01M246524
  • GC01M248457

Summaries for OR2T12 Gene

Entrez Gene Summary for OR2T12 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 OR2T12 Gene

OR2T12 (Olfactory Receptor Family 2 Subfamily T Member 12) is a Protein Coding gene. Diseases associated with OR2T12 include Mowat-Wilson Syndrome. 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 OR2T33.

UniProtKB/Swiss-Prot Summary for OR2T12 Gene

Gene Wiki entry for OR2T12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR2T12 Gene

Genomics for OR2T12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR2T12 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
GH01J247906 Enhancer 0.8 ENCODE 5.2 +396.6 396600 0.3 IKZF1 JUND IRF2 TAF9B PRDM1 TAL1 TCF7L2 NFE2 SKIL THRAP3 TRIM58 OR2T12 HSALNG0012281 piR-61365-004 OR2T8 OR2W3
GH01J248288 Enhancer 0.3 Ensembl 0.4 +14.8 14823 0.4 SPI1 RF00017-497 OR2T12 OR2T33 HSALNG0012288
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR2T12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR2T12

Top Transcription factor binding sites by QIAGEN in the OR2T12 gene promoter:
  • AML1a
  • COUP
  • COUP-TF
  • COUP-TF1
  • E4BP4
  • HEN1
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-alpha

Genomic Locations for OR2T12 Gene

Latest Assembly
chr1:248,290,139-248,303,424
(GRCh38/hg38)
Size:
13,286 bases
Orientation:
Minus strand

Previous Assembly
chr1:248,453,441-248,466,726
(GRCh37/hg19 by Entrez Gene)
Size:
13,286 bases
Orientation:
Minus strand

chr1:248,457,918-248,458,880
(GRCh37/hg19 by Ensembl)
Size:
963 bases
Orientation:
Minus strand

Genomic View for OR2T12 Gene

Genes around OR2T12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR2T12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR2T12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR2T12 Gene

Proteins for OR2T12 Gene

  • Protein details for OR2T12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NG77-O2T12_HUMAN
    Recommended name:
    Olfactory receptor 2T12
    Protein Accession:
    Q8NG77

    Protein attributes for OR2T12 Gene

    Size:
    320 amino acids
    Molecular mass:
    35946 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR2T12 Gene

Post-translational modifications for OR2T12 Gene

  • Glycosylation at Asn17

Other Protein References for OR2T12 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR2T12 Gene

Domains & Families for OR2T12 Gene

Gene Families for OR2T12 Gene

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

Protein Domains for OR2T12 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR2T12 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR1-57 (O2T12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NG77

UniProtKB/Swiss-Prot:

O2T12_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 OR2T12: view

Function for OR2T12 Gene

Molecular function for OR2T12 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR2T12 Gene

Gene Ontology (GO) - Molecular Function for OR2T12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity IEA --
genes like me logo Genes that share ontologies with OR2T12: view
genes like me logo Genes that share phenotypes with OR2T12: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR2T12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR2T12 Gene

Localization for OR2T12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR2T12 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 OR2T12 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR2T12 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 OR2T12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR2T12 Gene

Pathways & Interactions for OR2T12 Gene

genes like me logo Genes that share pathways with OR2T12: view

Pathways by source for OR2T12 Gene

Interacting Proteins for OR2T12 Gene

Gene Ontology (GO) - Biological Process for OR2T12 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 OR2T12: view

No data available for SIGNOR curated interactions for OR2T12 Gene

Drugs & Compounds for OR2T12 Gene

No Compound Related Data Available

Transcripts for OR2T12 Gene

mRNA/cDNA for OR2T12 Gene

1 REFSEQ mRNAs :
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 OR2T12

Alternative Splicing Database (ASD) splice patterns (SP) for OR2T12 Gene

No ASD Table

Relevant External Links for OR2T12 Gene

GeneLoc Exon Structure for
OR2T12

Expression for OR2T12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR2T12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR2T12

SOURCE GeneReport for Unigene cluster for OR2T12 Gene:

Hs.553582
genes like me logo Genes that share expression patterns with OR2T12: 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 OR2T12 Gene

Orthologs for OR2T12 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR2T12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC469761 29
  • 97.92 (n)
-- 30
  • 97 (a)
OneToMany
-- 30
  • 97 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia OR2T12 29
  • 79.94 (n)
-- 30
  • 75 (a)
ManyToMany
-- 30
  • 74 (a)
ManyToMany
-- 30
  • 71 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 77 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Olfr314 30
  • 70 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 57 (a)
OneToMany
Species where no ortholog for OR2T12 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 OR2T12 Gene

ENSEMBL:
Gene Tree for OR2T12 (if available)
TreeFam:
Gene Tree for OR2T12 (if available)
Alliance of Genome Resources:
Additional Orthologs for OR2T12

Paralogs for OR2T12 Gene

(449) SIMAP similar genes for OR2T12 Gene using alignment to 1 proteins:

  • O2T12_HUMAN
genes like me logo Genes that share paralogs with OR2T12: view

Variants for OR2T12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR2T12 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs11204625 -- p.Lys296Asn
rs12135684 -- p.Ala41Ser
rs12137982 -- p.Thr104Ser
rs6667171 -- p.Arg301Leu
rs6678138 -- p.Met69Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR2T12 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 OR2T12 Gene

Variant ID Type Subtype PubMed ID
dgv17e55 CNV loss 17911159
dgv606n100 CNV gain 25217958
dgv607n100 CNV loss 25217958
dgv608n100 CNV gain 25217958
dgv613n100 CNV loss 25217958
dgv905n54 CNV gain 21841781
esv2750832 CNV gain 17911159
esv3891415 CNV gain 25118596
nsv1001474 CNV gain 25217958
nsv1013273 CNV gain 25217958
nsv515858 CNV gain+loss 19592680
nsv549597 CNV gain 21841781
nsv549603 CNV loss 21841781
nsv549604 CNV gain 21841781
nsv549626 CNV loss 21841781
nsv549630 CNV loss 21841781
nsv9103 CNV loss 18304495
nsv945464 CNV duplication 23825009

Variation tolerance for OR2T12 Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.30; 88.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR2T12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR2T12
Leiden Open Variation Database (LOVD)
OR2T12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR2T12 Gene

Disorders for OR2T12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OR2T12 Gene - From: COP

Disorder Aliases PubMed IDs
mowat-wilson syndrome
  • mows
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OR2T12

genes like me logo Genes that share disorders with OR2T12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR2T12 Gene

Publications for OR2T12 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. 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
  3. Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons. (PMID: 32126975) Barnes IHA … Frankish A (BMC genomics 2020) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for OR2T12 Gene

Sources for OR2T12 Gene