Human Gene EHD4 (uc001zou.2) Description and Page Index
  Description: Homo sapiens EH-domain containing 4 (EHD4), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr15:42,233,802-42,264,755 Size: 30,954 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr15:42,235,206-42,264,692 Size: 29,487 Coding Exon Count: 3 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:42,233,802-42,264,755)mRNA (may differ from genome)Protein (189 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCETreefamWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EHD4
CDC HuGE Published Literature: EHD4
Positive Disease Associations: Heart Rate , Lymphocytes , Neutrophils
Related Studies:
  1. Heart Rate
    Christopher Newton-Cheh et al. BMC medical genetics 2007, Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study., BMC medical genetics. [PubMed 17903306]
    In the community-based Framingham Heart Study none of the ECG and HRV results individually attained genomewide significance. However, the presence of bona fide QT-associated SNPs among the top 117 results for QT duration supports the importance of efforts to validate top results from the reported scans. Finding genetic variants associated with ECG and HRV quantitative traits may identify novel genes and pathways implicated in arrhythmogenesis and allow for improved recognition of individuals at high risk for arrhythmias in the general population.
  2. Lymphocytes
    , , . [PubMed 0]
  3. Neutrophils
    , , . [PubMed 0]
           more ... click here to view the complete list

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.22 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 545.38 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.4063-0.371 Picture PostScript Text
3' UTR -553.501404-0.394 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.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  LF205850 - JP 2014500723-A/13353: Polycomb-Associated Non-Coding RNAs.
BC077716 - Homo sapiens cDNA clone IMAGE:5020413, containing frame-shift errors.
AF454953 - Homo sapiens EH domain-containing protein-4 mRNA, complete cds.
BC006287 - Homo sapiens EH-domain containing 4, mRNA (cDNA clone MGC:10536 IMAGE:3958645), complete cds.
BC051823 - Homo sapiens EH-domain containing 4, mRNA (cDNA clone MGC:60080 IMAGE:4944876), complete cds.
AK024902 - Homo sapiens cDNA: FLJ21249 fis, clone COL01244, highly similar to AF181265 Homo sapiens EH domain containing 4 (EHD4) mRNA.
AF181265 - Homo sapiens EH domain containing 4 (EHD4) mRNA, partial cds.
AF323924 - Homo sapiens hepatocellular carcinoma-associated protein HCA11 mRNA, complete cds.
AF307137 - Homo sapiens EH domain-containing protein FKSG7 (FKSG7) mRNA, complete cds.
AK292634 - Homo sapiens cDNA FLJ77391 complete cds, highly similar to Homo sapiens EH-domain containing 4 (EHD4), mRNA.
KJ906140 - Synthetic construct Homo sapiens clone ccsbBroadEn_15810 EHD4 gene, encodes complete protein.
DQ892745 - Synthetic construct clone IMAGE:100005375; FLH189305.01X; RZPDo839D0974D EH-domain containing 4 (EHD4) gene, encodes complete protein.
DQ895991 - Synthetic construct Homo sapiens clone IMAGE:100010451; FLH189301.01L; RZPDo839D0964D EH-domain containing 4 (EHD4) gene, encodes complete protein.
MA441427 - JP 2018138019-A/13353: Polycomb-Associated Non-Coding RNAs.
CU690850 - Synthetic construct Homo sapiens gateway clone IMAGE:100021441 5' read EHD4 mRNA.
AK074621 - Homo sapiens cDNA FLJ90140 fis, clone HEMBB1001048.
LF348873 - JP 2014500723-A/156376: Polycomb-Associated Non-Coding RNAs.
LF348877 - JP 2014500723-A/156380: Polycomb-Associated Non-Coding RNAs.
JD204150 - Sequence 185174 from Patent EP1572962.
MA584450 - JP 2018138019-A/156376: Polycomb-Associated Non-Coding RNAs.
MA584454 - JP 2018138019-A/156380: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

-  Other Names for This Gene
  Alternate Gene Symbols: AK074621, NM_139265, NP_644670
UCSC ID: uc001zou.2
RefSeq Accession: NM_139265

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK074621.1
exon count: 3CDS single in 3' UTR: no RNA size: 2030
ORF size: 570CDS single in intron: no Alignment % ID: 99.85
txCdsPredict score: 1286.00frame shift in genome: no % Coverage: 100.00
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: 1463# 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.