Human Gene EHF (ENST00000257831.8) from GENCODE V43
  Description: Homo sapiens ETS homologous factor (EHF), transcript variant 20, non-coding RNA. (from RefSeq NR_165390)
RefSeq Summary (NM_012153): 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].
Gencode Transcript: ENST00000257831.8
Gencode Gene: ENSG00000135373.13
Transcript (Including UTRs)
   Position: hg38 chr11:34,621,093-34,663,288 Size: 42,196 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr11:34,642,631-34,658,931 Size: 16,301 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-02-17 13:02:02

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:34,621,093-34,663,288)mRNA (may differ from genome)Protein (300 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=ETS homologous factor; Short=hEHF; AltName: Full=ETS domain-containing transcription factor; AltName: Full=Epithelium-specific Ets transcription factor 3; Short=ESE-3;
FUNCTION: Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen- activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets- binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene.
TISSUE SPECIFICITY: Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, prostate, and lung. Weakly expressed in kidney and colon. Not detected in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, testis, ovary, small intestine or peripheral blood leukocytes.
INDUCTION: By IL1B/interleukin-1 beta and TNF in bronchial smooth muscle cells and fibroblasts. By IL10/interleukin-10 and IFNG/IFN- gamma in monocyte-derived dendritic cells.
DOMAIN: The PNT domain acts as a transcriptional activator (By similarity).
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SIMILARITY: Contains 1 PNT (pointed) domain.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  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

-  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 -37.00139-0.266 Picture PostScript Text
3' UTR -1157.604357-0.266 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

ModBase Predicted Comparative 3D Structure on Q9NZC4
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0008283 cell proliferation
GO:0030855 epithelial cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050673 epithelial cell proliferation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus

-  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.
JD519285 - Sequence 500309 from Patent EP1572962.
JD070964 - Sequence 51988 from Patent EP1572962.
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: D3DR08, D3DR10, EHF_HUMAN, ENST00000257831.1, ENST00000257831.2, ENST00000257831.3, ENST00000257831.4, ENST00000257831.5, ENST00000257831.6, ENST00000257831.7, ESE3, ESE3B, ESEJ, NR_165390, Q9H509, Q9NZC4, Q9UKF9, Q9Y5V4, Q9Y5V5, uc001mvr.1, uc001mvr.2, uc001mvr.3, uc001mvr.4
UCSC ID: ENST00000257831.8
RefSeq Accession: NM_012153
Protein: Q9NZC4 (aka EHF_HUMAN)
CCDS: CCDS7894.1

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