Human Gene EHF (uc021qfu.1) Description and Page Index
  Description: Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.
RefSeq Summary (NM_001206616): This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011].
Transcript (Including UTRs)
   Position: hg19 chr11:34,654,011-34,684,834 Size: 30,824 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr11:34,654,137-34,680,478 Size: 26,342 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:34,654,011-34,684,834)mRNA (may differ from genome)Protein (322 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E9PSB2_HUMAN
DESCRIPTION: SubName: Full=ETS homologous factor;
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EHF
CDC HuGE Published Literature: EHF
Positive Disease Associations: Antipsychotic Agents , Body Weight , Lipoproteins, VLDL , Stroke , Triglycerides , Volumetric brain MRI
Related Studies:
  1. Antipsychotic Agents
    Joseph L McClay et al. Neuropsychopharmacology 2011, Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia., Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. [PubMed 21107309]
  2. Body Weight
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  3. Lipoproteins, VLDL
    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.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: EHF
Diseases sorted by gene-association score: allergic urticaria (2), neurodermatitis (1), vertebrobasilar insufficiency (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 72.88 RPKM in Minor Salivary Gland
Total median expression: 301.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.02126-0.318 Picture PostScript Text
3' UTR -1217.214356-0.279 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
IPR000418 - Ets
IPR003118 - Pointed_dom
IPR013761 - SAM/pointed
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00178 - Ets-domain
PF02198 - Sterile alpha motif (SAM)/Pointed domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
47769 - SAM/Pointed domain

ModBase Predicted Comparative 3D Structure on E9PSB2
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 orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
    WormBase 
    Protein Sequence 
    Alignment 

-  Descriptions from all associated GenBank mRNAs
  AF212848 - Homo sapiens Ets domain transcription factor (ESEJ) mRNA, complete cds.
AF203977 - Homo sapiens ETS-family transcription factor EHF (EHF) mRNA, complete cds.
AF170583 - Homo sapiens ets homologous factor (EHF) mRNA, complete cds.
AF124438 - Homo sapiens transcription factor ESE-3A (ESE-3) mRNA, complete cds.
AF124439 - Homo sapiens transcription factor ESE-3B (ESE-3) mRNA, complete cds.
BC038995 - Homo sapiens ets homologous factor, mRNA (cDNA clone MGC:47678 IMAGE:6055934), complete cds.
AK309318 - Homo sapiens cDNA, FLJ99359.
AK310867 - Homo sapiens cDNA, FLJ17909.
AK025244 - Homo sapiens cDNA: FLJ21591 fis, clone COL07023.
EU446870 - Synthetic construct Homo sapiens clone IMAGE:100070253; IMAGE:100012079; FLH257318.01L ets homologous factor (EHF) gene, encodes complete protein.
CU691630 - Synthetic construct Homo sapiens gateway clone IMAGE:100020822 5' read EHF mRNA.
KJ893562 - Synthetic construct Homo sapiens clone ccsbBroadEn_02956 EHF gene, encodes complete protein.
AY882601 - Homo sapiens ESE3 transcription factor (ESE3B) mRNA, complete cds.
JD506700 - Sequence 487724 from Patent EP1572962.
JD327669 - Sequence 308693 from Patent EP1572962.
JD360471 - Sequence 341495 from Patent EP1572962.
JD077029 - Sequence 58053 from Patent EP1572962.
JD300375 - Sequence 281399 from Patent EP1572962.
JD563337 - Sequence 544361 from Patent EP1572962.
JD142995 - Sequence 124019 from Patent EP1572962.
JD199743 - Sequence 180767 from Patent EP1572962.
JD347824 - Sequence 328848 from Patent EP1572962.
JD503229 - Sequence 484253 from Patent EP1572962.
JD503042 - Sequence 484066 from Patent EP1572962.
JD372623 - Sequence 353647 from Patent EP1572962.
JD548577 - Sequence 529601 from Patent EP1572962.
JD538929 - Sequence 519953 from Patent EP1572962.
JD512220 - Sequence 493244 from Patent EP1572962.
JD116804 - Sequence 97828 from Patent EP1572962.
JD089318 - Sequence 70342 from Patent EP1572962.
JD268398 - Sequence 249422 from Patent EP1572962.
JD235398 - Sequence 216422 from Patent EP1572962.
JD557022 - Sequence 538046 from Patent EP1572962.
JD058744 - Sequence 39768 from Patent EP1572962.
JD411111 - Sequence 392135 from Patent EP1572962.
JD554218 - Sequence 535242 from Patent EP1572962.
JD148126 - Sequence 129150 from Patent EP1572962.
JD376912 - Sequence 357936 from Patent EP1572962.
JD299070 - Sequence 280094 from Patent EP1572962.
JD371388 - Sequence 352412 from Patent EP1572962.
JD206403 - Sequence 187427 from Patent EP1572962.
JD177825 - Sequence 158849 from Patent EP1572962.
JD086208 - Sequence 67232 from Patent EP1572962.
JD213862 - Sequence 194886 from Patent EP1572962.
JD062618 - Sequence 43642 from Patent EP1572962.
JD340574 - Sequence 321598 from Patent EP1572962.
AK026517 - Homo sapiens cDNA: FLJ22864 fis, clone KAT02164.

-  Other Names for This Gene
  Alternate Gene Symbols: E9PSB2, E9PSB2_HUMAN, NM_001206616, NP_036285
UCSC ID: uc021qfu.1
RefSeq Accession: NM_001206616
Protein: E9PSB2 CCDS: CCDS55752.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001206616.1
exon count: 9CDS single in 3' UTR: no RNA size: 5467
ORF size: 969CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 2138.00frame shift in genome: no % Coverage: 99.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.