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Aliases for OR6C2 Gene

Aliases for OR6C2 Gene

  • Olfactory Receptor Family 6 Subfamily C Member 2 2 3 5
  • HSA3 3 4
  • Olfactory Receptor, Family 6, Subfamily C, Member 2 2
  • Olfactory Receptor 6C2 3
  • OR6C67 3

External Ids for OR6C2 Gene

Previous GeneCards Identifiers for OR6C2 Gene

  • GC00U990939
  • GC12P054132
  • GC12P055845

Summaries for OR6C2 Gene

Entrez Gene Summary for OR6C2 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 OR6C2 Gene

OR6C2 (Olfactory Receptor Family 6 Subfamily C Member 2) is a Protein Coding gene. Diseases associated with OR6C2 include Cataract 21, Multiple Types and Cataract 37. Among its related pathways are GPCRs, Other and Signaling by GPCR. 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 OR6C68.

UniProtKB/Swiss-Prot for OR6C2 Gene

  • Odorant receptor.

Gene Wiki entry for OR6C2 Gene

Additional gene information for OR6C2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OR6C2 Gene

Genomics for OR6C2 Gene

GeneHancer (GH) Regulatory Elements for OR6C2 Gene

Promoters and enhancers for OR6C2 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
GH12J055020 Enhancer 0.4 FANTOM5 dbSUPER 5 -423.2 -423219 0 NEUROD4 OR6C3 OR6C65 OR9K2 OR6C75 OR6C6 OR6C2 OR10A7 OR6C74 OR6C76
GH12J055881 Enhancer 0.4 FANTOM5 ENCODE 3.8 +437.2 437246 0.3 GC12P055881 OR10P1 OR6C4 MMP19 ORMDL2 SARNP CDK2 PMEL RAB5B OR6C65
GH12J055825 Enhancer 0.6 FANTOM5 Ensembl 1.5 +381.2 381195 0.5 GLIS1 OR10P1 OR6C4 OR6C65 OR6C3 IKZF4 OR6C2 ENSG00000257390 DNAJC14 ORMDL2
GH12J055629 Enhancer 0.4 FANTOM5 dbSUPER 1.9 +185.2 185213 0 MMP19 OR6C4 OR10P1 OR6C65 ZC3H10 OR6C74 OR9K2 OR6C3 OR6C2 OR6C6
GH12J055467 Enhancer 0.3 FANTOM5 0.3 +24.0 24022 0.3 ETV6 GC12M055463 OR6C68 OR10A7 MMP19 OR6C2 ENSG00000258763
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR6C2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OR6C2 gene promoter:
  • FOXL1
  • AML1a
  • POU2F1a
  • POU2F1
  • Nkx3-1 v4
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1

Genomic Locations for OR6C2 Gene

Genomic Locations for OR6C2 Gene
chr12:55,444,069-55,453,347
(GRCh38/hg38)
Size:
9,279 bases
Orientation:
Plus strand
chr12:55,845,998-55,846,936
(GRCh37/hg19)
Size:
939 bases
Orientation:
Plus strand

Genomic View for OR6C2 Gene

Genes around OR6C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR6C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR6C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR6C2 Gene

Proteins for OR6C2 Gene

  • Protein details for OR6C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZP2-OR6C2_HUMAN
    Recommended name:
    Olfactory receptor 6C2
    Protein Accession:
    Q9NZP2

    Protein attributes for OR6C2 Gene

    Size:
    312 amino acids
    Molecular mass:
    35178 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR6C2 Gene

Post-translational modifications for OR6C2 Gene

  • Glycosylation at Asn82 and isoforms=3
  • Modification sites at PhosphoSitePlus

Other Protein References for OR6C2 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR6C2 Gene

Domains & Families for OR6C2 Gene

Gene Families for OR6C2 Gene

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

Protein Domains for OR6C2 Gene

Suggested Antigen Peptide Sequences for OR6C2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZP2

UniProtKB/Swiss-Prot:

OR6C2_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 OR6C2: view

Function for OR6C2 Gene

Molecular function for OR6C2 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Gene Ontology (GO) - Molecular Function for OR6C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004984 olfactory receptor activity NAS 10706615
genes like me logo Genes that share ontologies with OR6C2: view
genes like me logo Genes that share phenotypes with OR6C2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR6C2 Gene

Localization for OR6C2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR6C2 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 OR6C2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR6C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10706615
genes like me logo Genes that share ontologies with OR6C2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR6C2 Gene

Pathways & Interactions for OR6C2 Gene

genes like me logo Genes that share pathways with OR6C2: view

Pathways by source for OR6C2 Gene

1 BioSystems pathway for OR6C2 Gene
1 KEGG pathway for OR6C2 Gene

Interacting Proteins for OR6C2 Gene

Gene Ontology (GO) - Biological Process for OR6C2 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 NAS 10706615
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 OR6C2: view

No data available for SIGNOR curated interactions for OR6C2 Gene

Drugs & Compounds for OR6C2 Gene

No Compound Related Data Available

Transcripts for OR6C2 Gene

mRNA/cDNA for OR6C2 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OR6C2 Gene

Olfactory receptor, family 6, subfamily C, member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OR6C2 Gene

No ASD Table

Relevant External Links for OR6C2 Gene

GeneLoc Exon Structure for
OR6C2
ECgene alternative splicing isoforms for
OR6C2

Expression for OR6C2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OR6C2 Gene

mRNA differential expression in normal tissues according to GTEx for OR6C2 Gene

This gene is overexpressed in Testis (x14.8), Heart - Atrial Appendage (x12.4), and Whole Blood (x7.2).

NURSA nuclear receptor signaling pathways regulating expression of OR6C2 Gene:

OR6C2

SOURCE GeneReport for Unigene cluster for OR6C2 Gene:

Hs.524483
genes like me logo Genes that share expression patterns with OR6C2: view

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 OR6C2 Gene

Orthologs for OR6C2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OR6C2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LOC100683387 33
  • 88.25 (n)
-- 34
  • 88 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Or6c2 51 Olfr791 16 34 33
  • 86.22 (n)
Or6c201 51 Olfr770
  • chr10:129,132,834-129,133,766
Or6c203 51 Olfr772
  • chr10:129,174,087-129,175,019
Or6c204 51 Olfr773
  • chr10:129,186,487-129,187,419
Or6c207 51 Olfr777
  • chr10:129,268,389-129,269,321
Or6c209 51 Olfr799
  • chr10:129,647,130-129,648,062
Or6c210 51 Olfr800
  • chr10:129,659,808-129,660,740
Or6c220-ps 51 Olfr277-ps1
  • chr14:124,589,037-124,589,336
Or6c2b 51 Olfr769
  • chr10:129,111,488-129,112,423
Or6c35 51 Olfr781
  • chr10:129,332,883-129,333,815
Or6c88 51 Olfr794
  • chr10:129,570,657-129,571,616
rat
(Rattus norvegicus)
Mammalia Olr892 33
  • 85.79 (n)
cow
(Bos Taurus)
Mammalia OR6C2 34
  • 81 (a)
OneToOne
LOC782624 33
  • 77.17 (n)
chimpanzee
(Pan troglodytes)
Mammalia LOC467023 33
  • 77.6 (n)
-- 34
  • 75 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
ManyToMany
-- 34
  • 76 (a)
ManyToMany
-- 34
  • 75 (a)
ManyToMany
-- 34
  • 75 (a)
ManyToMany
-- 34
  • 74 (a)
ManyToMany
-- 34
  • 74 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
-- 34
  • 71 (a)
ManyToMany
-- 34
  • 69 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497273 33
  • 52.09 (n)
Species where no ortholog for OR6C2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 OR6C2 Gene

ENSEMBL:
Gene Tree for OR6C2 (if available)
TreeFam:
Gene Tree for OR6C2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR6C2: view image

Paralogs for OR6C2 Gene

Paralogs for OR6C2 Gene

(443) SIMAP similar genes for OR6C2 Gene using alignment to 1 proteins:

  • OR6C2_HUMAN
genes like me logo Genes that share paralogs with OR6C2: view

Variants for OR6C2 Gene

Sequence variations from dbSNP and Humsavar for OR6C2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000333280 -- 55,452,158(+) C/A upstream_transcript_variant
rs1001247169 -- 55,451,303(+) C/G/T upstream_transcript_variant
rs1002687715 -- 55,451,181(+) T/C upstream_transcript_variant
rs1003704953 -- 55,451,616(+) T/C upstream_transcript_variant
rs1004146306 -- 55,452,826(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for OR6C2 Gene

Variant ID Type Subtype PubMed ID
nsv1054105 CNV loss 25217958
nsv559001 CNV loss 21841781
nsv832422 CNV loss 17160897

Variation tolerance for OR6C2 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.16; 69.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR6C2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR6C2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR6C2 Gene

Disorders for OR6C2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for OR6C2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cataract 21, multiple types
  • ctrct21
cataract 37
  • ctrct37
- elite association - COSMIC cancer census association via MalaCards
Search OR6C2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OR6C2

genes like me logo Genes that share disorders with OR6C2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR6C2 Gene

Publications for OR6C2 Gene

  1. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4 58
  2. The olfactory receptor gene repertoire in primates and mouse: evidence for reduction of the functional fraction in primates. (PMID: 10706615) Rouquier S … Giorgi D (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58
  3. Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. (PMID: 24152035) Goodbourn PT … Mollon JD (Genes, brain, and behavior 2014) 3 58
  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 OR6C2 Gene

Sources for OR6C2 Gene

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