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 OR2AK2 Gene

Aliases for OR2AK2 Gene

  • Olfactory Receptor Family 2 Subfamily AK Member 2 2 3 5
  • Olfactory Receptor OR1-47 3 4
  • Olfactory Receptor 2AK2 3 4
  • Olfactory Receptor 2AK1 3 4
  • OR2AK1P 3 4
  • Olfactory Receptor, Family 2, Subfamily AK, Member 1 Pseudogene 3
  • Olfactory Receptor, Family 2, Subfamily AK, Member 2 2
  • OR1-47 3
  • OR2AK2 5

External Ids for OR2AK2 Gene

Previous HGNC Symbols for OR2AK2 Gene

  • OR2AK1P

Previous GeneCards Identifiers for OR2AK2 Gene

  • GC00U903038
  • GC01P245027
  • GC01P244440
  • GC01P246195
  • GC01P248128

Summaries for OR2AK2 Gene

Entrez Gene Summary for OR2AK2 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 OR2AK2 Gene

OR2AK2 (Olfactory Receptor Family 2 Subfamily AK Member 2) is a Protein Coding gene. Diseases associated with OR2AK2 include Immunodeficiency 40 and Retinal Arteries, Tortuosity Of. 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 OR2L8.

UniProtKB/Swiss-Prot Summary for OR2AK2 Gene

Gene Wiki entry for OR2AK2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR2AK2 Gene

Genomics for OR2AK2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR2AK2 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
GH01J247962 Enhancer 0.2 Ensembl 250.7 -1.9 -1932 0.2 OR2AK2 OR2L2 OR2L8 OR2L13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR2AK2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR2AK2

Top Transcription factor binding sites by QIAGEN in the OR2AK2 gene promoter:
  • Brachyury
  • CUTL1
  • GATA-3
  • HNF-3beta
  • ITF-2
  • MRF-2
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1beta

Genomic Locations for OR2AK2 Gene

Latest Assembly
chr1:247,965,233-247,966,386
(GRCh38/hg38)
Size:
1,154 bases
Orientation:
Plus strand

Previous Assembly
chr1:248,128,634-248,129,641
(GRCh37/hg19 by Entrez Gene)
Size:
1,008 bases
Orientation:
Plus strand

chr1:248,128,535-248,129,641
(GRCh37/hg19 by Ensembl)
Size:
1,107 bases
Orientation:
Plus strand

Genomic View for OR2AK2 Gene

Genes around OR2AK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR2AK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR2AK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR2AK2 Gene

Proteins for OR2AK2 Gene

  • Protein details for OR2AK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NG84-O2AK2_HUMAN
    Recommended name:
    Olfactory receptor 2AK2
    Protein Accession:
    Q8NG84
    Secondary Accessions:
    • B2RND1
    • Q6IF05

    Protein attributes for OR2AK2 Gene

    Size:
    335 amino acids
    Molecular mass:
    37763 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC06164.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for OR2AK2 Gene

Post-translational modifications for OR2AK2 Gene

  • Glycosylation at Asn20
  • Modification sites at PhosphoSitePlus

Other Protein References for OR2AK2 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR2AK2 Gene

Domains & Families for OR2AK2 Gene

Gene Families for OR2AK2 Gene

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

Protein Domains for OR2AK2 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR2AK2 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR1-47 (O2AK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NG84

UniProtKB/Swiss-Prot:

O2AK2_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 OR2AK2: view

Function for OR2AK2 Gene

Molecular function for OR2AK2 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Gene Ontology (GO) - Molecular Function for OR2AK2 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 OR2AK2: view
genes like me logo Genes that share phenotypes with OR2AK2: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR2AK2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR2AK2 Gene

Localization for OR2AK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR2AK2 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 OR2AK2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR2AK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OR2AK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR2AK2 Gene

Pathways & Interactions for OR2AK2 Gene

genes like me logo Genes that share pathways with OR2AK2: view

Pathways by source for OR2AK2 Gene

Interacting Proteins for OR2AK2 Gene

Gene Ontology (GO) - Biological Process for OR2AK2 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 OR2AK2: view

No data available for SIGNOR curated interactions for OR2AK2 Gene

Drugs & Compounds for OR2AK2 Gene

No Compound Related Data Available

Transcripts for OR2AK2 Gene

mRNA/cDNA for OR2AK2 Gene

1 REFSEQ mRNAs :
1 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 OR2AK2

Alternative Splicing Database (ASD) splice patterns (SP) for OR2AK2 Gene

No ASD Table

Relevant External Links for OR2AK2 Gene

GeneLoc Exon Structure for
OR2AK2

Expression for OR2AK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR2AK2 Gene

mRNA differential expression in normal tissues according to GTEx for OR2AK2 Gene

This gene is overexpressed in Testis (x8.2), Brain - Nucleus accumbens (basal ganglia) (x4.2), and Brain - Spinal cord (cervical c-1) (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR2AK2

SOURCE GeneReport for Unigene cluster for OR2AK2 Gene:

Hs.690413
genes like me logo Genes that share expression patterns with OR2AK2: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR2AK2 Gene

Orthologs for OR2AK2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR2AK2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC469755 29
  • 99.3 (n)
Cow
(Bos Taurus)
Mammalia OR2AK2 30
  • 78 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia OR2AK2 30
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Or2ak5 45 Olfr318 29 16 30
  • 77.23 (n)
OneToMany
Or2ak4 45 Olfr316 16 30
  • 75 (a)
OneToMany
Or2ak7 45 Olfr320 16 30
  • 75 (a)
OneToMany
Or2ak6 45 Olfr319 30
  • 72 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 52 (a)
OneToMany
Species where no ortholog for OR2AK2 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 OR2AK2 Gene

ENSEMBL:
Gene Tree for OR2AK2 (if available)
TreeFam:
Gene Tree for OR2AK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR2AK2: view image
Alliance of Genome Resources:
Additional Orthologs for OR2AK2

Paralogs for OR2AK2 Gene

(444) SIMAP similar genes for OR2AK2 Gene using alignment to 1 proteins:

  • O2AK2_HUMAN

Pseudogenes.org Pseudogenes for OR2AK2 Gene

genes like me logo Genes that share paralogs with OR2AK2: view

Variants for OR2AK2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR2AK2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs74153215 Benign: not provided 247,965,423(+) G/A
NM_001004491.1(OR2AK2):c.92G>A (p.Gly31Asp)
MISSENSE_VARIANT,INTRON
rs74153216 Benign: not provided 247,965,679(+) G/A
NM_001004491.1(OR2AK2):c.348G>A (p.Thr116=)
SYNONYMOUS_VARIANT,INTRON
rs74153217 Benign: not provided 247,965,871(+) G/A
NM_001004491.1(OR2AK2):c.540G>A (p.Gln180=)
SYNONYMOUS_VARIANT,INTRON
rs74153219 Benign: not provided 247,966,000(+) A/G
NM_001004491.1(OR2AK2):c.669A>G (p.Leu223=)
SYNONYMOUS_VARIANT,INTRON
rs74153221 Benign: not provided 247,966,199(+) G/A
NM_001004491.1(OR2AK2):c.868G>A (p.Ala290Thr)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR2AK2 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 OR2AK2 Gene

Variant ID Type Subtype PubMed ID
dgv604n100 CNV gain 25217958
dgv605n100 CNV gain 25217958
dgv606n100 CNV gain 25217958
dgv607n100 CNV loss 25217958
dgv608n100 CNV gain 25217958
esv2727929 CNV deletion 23290073
esv2750832 CNV gain 17911159
esv2759014 CNV gain+loss 17122850
esv2762235 CNV gain 21179565
esv33129 CNV gain+loss 17666407
esv34503 CNV gain 17911159
esv3589522 CNV gain 21293372
esv3891415 CNV gain 25118596
nsv1008024 CNV gain 25217958
nsv1013273 CNV gain 25217958
nsv508070 OTHER sequence alteration 20534489
nsv515858 CNV gain+loss 19592680
nsv549597 CNV gain 21841781
nsv549601 CNV loss 21841781
nsv549602 CNV loss 21841781
nsv549603 CNV loss 21841781
nsv549604 CNV gain 21841781
nsv9080 CNV gain 18304495

Variation tolerance for OR2AK2 Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.19; 90.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR2AK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR2AK2
Leiden Open Variation Database (LOVD)
OR2AK2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR2AK2 Gene

Disorders for OR2AK2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for OR2AK2 Gene - From: COP

Disorder Aliases PubMed IDs
immunodeficiency 40
  • imd40
retinal arteries, tortuosity of
  • rator
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OR2AK2

genes like me logo Genes that share disorders with OR2AK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR2AK2 Gene

Publications for OR2AK2 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. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4
  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) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for OR2AK2 Gene

Sources for OR2AK2 Gene