OR4C12 Gene (Protein Coding)

Olfactory Receptor Family 4 Subfamily C Member 12

GC11M066360
GIFtS:
29
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 OR4C12 Gene

Aliases for OR4C12 Gene

  • Olfactory Receptor Family 4 Subfamily C Member 12 2 3 5
  • Olfactory Receptor OR11-259 3 4
  • Olfactory Receptor 4C12 3 4
  • Olfactory Receptor, Family 4, Subfamily C, Member 12 2
  • Seven Transmembrane Helix Receptor 3
  • OR11-259 3
  • OR4C12 5

External Ids for OR4C12 Gene

Previous GeneCards Identifiers for OR4C12 Gene

  • GC11U990545
  • GC11M049959
  • GC11M049894
  • GC11M050076
  • GC11M050568
  • GC11M050625
  • GC11M055869
  • GC11M056109
  • GC11M056255
  • GC11M059761
  • GC11M050845
  • GC11M051637
  • GC11M052299
  • GC11M052959
  • GC11M053628
  • GC11M054293
  • GC11M054960
  • GC11M055669
  • GC11M061199
  • GC11M063665

Summaries for OR4C12 Gene

Entrez Gene Summary for OR4C12 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 OR4C12 Gene

OR4C12 (Olfactory Receptor Family 4 Subfamily C Member 12) is a Protein Coding gene. Diseases associated with OR4C12 include Childhood Central Nervous System Primitive Neuroectodermal Neoplasm and Pineoblastoma. 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 OR4C13.

UniProtKB/Swiss-Prot Summary for OR4C12 Gene

Gene Wiki entry for OR4C12 Gene

Additional gene information for OR4C12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR4C12 Gene

Genomics for OR4C12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR4C12

Top Transcription factor binding sites by QIAGEN in the OR4C12 gene promoter:
  • AML1a
  • E47
  • GATA-1
  • GATA-2
  • LyF-1
  • Nkx6-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Tal-1

Genomic Locations for OR4C12 Gene

Latest Assembly
chr11:49,981,473-49,982,535
(GRCh38/hg38)
Size:
1,063 bases
Orientation:
Minus strand

Previous Assembly
chr11:50,003,009-50,004,071
(GRCh37/hg19 by Entrez Gene)
Size:
1,063 bases
Orientation:
Minus strand

chr11:50,003,009-50,004,071
(GRCh37/hg19 by Ensembl)
Size:
1,063 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr11(PATCHES):23,101-24,163 (-)

Genomic View for OR4C12 Gene

Genes around OR4C12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR4C12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR4C12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for OR4C12 Gene

Proteins for OR4C12 Gene

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  • Protein details for OR4C12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96R67-OR4CC_HUMAN
    Recommended name:
    Olfactory receptor 4C12
    Protein Accession:
    Q96R67
    Secondary Accessions:
    • B2RNF0
    • Q6IF49

    Protein attributes for OR4C12 Gene

    Size:
    309 amino acids
    Molecular mass:
    34491 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR4C12 Gene

Post-translational modifications for OR4C12 Gene

  • Glycosylation at Asn6
  • Modification sites at PhosphoSitePlus

Other Protein References for OR4C12 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR4C12 Gene

Domains & Families for OR4C12 Gene

Gene Families for OR4C12 Gene

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

Protein Domains for OR4C12 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR4C12 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR11-259 (OR4CC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96R67

UniProtKB/Swiss-Prot:

OR4CC_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 OR4C12: view

Function for OR4C12 Gene

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  6. Cell Lines for research

Molecular function for OR4C12 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR4C12 Gene

Gene Ontology (GO) - Molecular Function for OR4C12 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 OR4C12: view
genes like me logo Genes that share phenotypes with OR4C12: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR4C12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR4C12 Gene

Localization for OR4C12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR4C12 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 OR4C12 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR4C12 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 OR4C12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR4C12 Gene

Pathways & Interactions for OR4C12 Gene

genes like me logo Genes that share pathways with OR4C12: view

Pathways by source for OR4C12 Gene

1 KEGG pathway for OR4C12 Gene

Interacting Proteins for OR4C12 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 23)
STRING Interaction Network
Selected Interacting proteins: ENSP00000334418 Q96R67-OR4CC_HUMAN for OR4C12 Gene via STRING IID

GPS-Prot Interaction Network for OR4C12

Gene Ontology (GO) - Biological Process for OR4C12 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 OR4C12: view

No data available for SIGNOR curated interactions for OR4C12 Gene

Drugs & Compounds for OR4C12 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for OR4C12 Gene

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mRNA/cDNA for OR4C12 Gene

1 REFSEQ mRNAs :
2 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 OR4C12

Alternative Splicing Database (ASD) splice patterns (SP) for OR4C12 Gene

No ASD Table

Relevant External Links for OR4C12 Gene

GeneLoc Exon Structure for
OR4C12

Expression for OR4C12 Gene

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR4C12 Gene

mRNA expression in normal human tissues for OR4C12 Gene
mRNA expression by BioGPS for OR4C12 GenemRNA expression by GTEx for OR4C12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR4C12

SOURCE GeneReport for Unigene cluster for OR4C12 Gene:

Hs.553669
genes like me logo Genes that share expression patterns with OR4C12: 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 OR4C12 Gene

Orthologs for OR4C12 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR4C12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LOC466885 29
  • 99.14 (n)
OR4C12 30
  • 98 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia OR4C12 29
  • 87.38 (n)
-- 30
  • 86 (a)
 OneToMany
-- 30
  • 84 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia OR4C12 29
  • 85.87 (n)
-- 30
  • 82 (a)
 OneToMany
-- 30
  • 82 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Or4c12b 45 Olfr1255 29 16 30
  • 85.31 (n)
 OneToMany
Or4c12 45 Olfr1259 30
  • 83 (a)
 OneToMany
Or4c58 45 Olfr48
  • chr2:89,844,069-89,844,971
Platypus
(Ornithorhynchus anatinus)
 Mammalia OR4C12 30
  • 71 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 67 (a)
 ManyToMany
Species where no ortholog for OR4C12 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)
  • 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 OR4C12 Gene

ENSEMBL:
Gene Tree for OR4C12 (if available)
TreeFam:
Gene Tree for OR4C12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR4C12: view image
Alliance of Genome Resources:
Additional Orthologs for OR4C12

Paralogs for OR4C12 Gene

Paralogs for OR4C12 Gene

(447) SIMAP similar genes for OR4C12 Gene using alignment to 1 proteins:

  • OR4CC_HUMAN

Pseudogenes.org Pseudogenes for OR4C12 Gene

genes like me logo Genes that share paralogs with OR4C12: view

Variants for OR4C12 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR4C12 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs193920780 Uncertain Significance: Malignant tumor of prostate 49,982,428(-) G/A
NM_001005270.4(OR4C12):c.74C>T (p.Thr25Met) 		MISSENSE
rs4598671 -- p.Val283Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR4C12 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 OR4C12 Gene

Variant ID Type Subtype PubMed ID
dgv1128n100 CNV gain 25217958
dgv1130n100 CNV gain 25217958
dgv1813n54 CNV gain 21841781
esv2760533 CNV gain+loss 21179565
esv33425 CNV gain 17666407
esv3626326 CNV gain 21293372
esv3892002 CNV gain 25118596
esv3892003 CNV gain 25118596
nsv1048074 CNV gain 25217958
nsv428254 CNV loss 18775914
nsv467876 CNV gain 19166990

Variation tolerance for OR4C12 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.72; 91.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR4C12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR4C12
Leiden Open Variation Database (LOVD)
OR4C12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR4C12 Gene

Disorders for OR4C12 Gene

MalaCards: The human disease database

(4) MalaCards diseases for OR4C12 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OR4C12

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 OR4C12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR4C12 Gene

Publications for OR4C12 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. DEFOG: a practical scheme for deciphering families of genes. (PMID: 12213199) Fuchs T … Shamir R (Genomics 2002) 3 4
  3. Genome-wide molecular characterization of central nervous system primitive neuroectodermal tumor and pineoblastoma. (PMID: 21798848) Miller S … Grundy RG (Neuro-oncology 2011) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 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

ExternalLinks

View latest publications for OR4C12 gene in Mastermind

Products for OR4C12 Gene

Sources for OR4C12 Gene