Human Gene OR2H1 (uc011gon.1) Description and Page Index
  Description: Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.
Transcript (Including UTRs)
   Position: chr6_mann_hap4:730,515-734,950 Size: 4,436 Total Exon Count: 3 Strand: +
Coding Region
   Position: chr6_mann_hap4:732,515-733,465 Size: 951 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDRNA Structure
Protein StructureOther SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
  Press "+" in the title bar above to open this section.

-  Comments and Description Text from UniProtKB
  ID: OR2H1_HUMAN
DESCRIPTION: RecName: Full=Olfactory receptor 2H1; AltName: Full=Hs6M1-16; AltName: Full=OLFR42A-9004.14/9026.2; AltName: Full=Olfactory receptor 2H6; AltName: Full=Olfactory receptor 2H8; AltName: Full=Olfactory receptor 6-2; Short=OR6-2; AltName: Full=Olfactory receptor OR6-32;
FUNCTION: Odorant receptor (Potential).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
WEB RESOURCE: Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR2H1";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: OR2H1
CDC HuGE Published Literature: OR2H1
Positive Disease Associations: Cholesterol, HDL , Lupus Erythematosus, Systemic
Related Studies:
  1. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Lupus Erythematosus, Systemic
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -220.02709-0.310 Picture PostScript Text
3' UTR -133.59470-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_7TM
IPR000725 - Olfact_rcpt

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on Q9GZK4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AJ459844 - Homo sapiens mRNA for olfactory receptor (6M1-16 gene), 5'UTR variant 2.
BC036097 - Homo sapiens cDNA clone IMAGE:5299043, containing frame-shift errors.
BC048991 - Homo sapiens olfactory receptor, family 2, subfamily H, member 1, mRNA (cDNA clone MGC:57430 IMAGE:5271584), complete cds.
AK127984 - Homo sapiens cDNA FLJ46099 fis, clone TESTI2022323, highly similar to Olfactory receptor 2H1.
AJ459838 - Homo sapiens mRNA for olfactory receptor (HS6M1-16 gene), 5'UTR exon E1.
AJ459840 - Homo sapiens mRNA for olfactory receptor (6M1-16 gene), exon E variant 2.
AJ459843 - Homo sapiens mRNA for olfactory receptor (6M1-16 gene), 5'UTR variant 1.
AJ459845 - Homo sapiens mRNA for olfactory receptor (6M1-16 gene), 5'UTR variant 1.
AJ459846 - Homo sapiens mRNA for olfactory receptor (6M1-16 gene), 5'UTR variant 2.
AB463959 - Synthetic construct DNA, clone: pF1KB7129, Homo sapiens OR2H1 gene for olfactory receptor, family 2, subfamily H, member 1, without stop codon, in Flexi system.
CU690598 - Synthetic construct Homo sapiens gateway clone IMAGE:100020861 5' read OR2H1 mRNA.
HQ447990 - Synthetic construct Homo sapiens clone IMAGE:100071358; CCSB010743_01 olfactory receptor, family 2, subfamily H, member 1 (OR2H1) gene, encodes complete protein.
AJ459847 - Homo sapiens mRNA for olfactory receptor (6M1-16 gene).
AJ459849 - Homo sapiens mRNA for olfactory receptor (6M1-16 gene), 3'UTR exon B.
AJ459850 - Homo sapiens mRNA for olfactory receptor (6M1-16 gene), 3'UTR exon C.

-  Other Names for This Gene
  Alternate Gene Symbols: AK127984, B0S7T4, NM_030883, NP_112145, O43629, O43661, O43662, OR2H1_HUMAN, OR2H6, OR2H8, Q5SUN6, Q9GZK4, Q9GZK9
UCSC ID: uc011gon.1
Representative RNA: AK127984
Protein: Q9GZK4 (aka OR2H1_HUMAN