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Aliases for EDC4 Gene

Aliases for EDC4 Gene

  • Enhancer Of MRNA Decapping 4 2 3 5
  • Human Enhancer Of Decapping Large Subunit 3 4
  • Autoantigen RCD-8 3 4
  • Autoantigen Ge-1 3 4
  • HEDLS 3 4
  • Enhancer Of MRNA-Decapping Protein 4 3
  • HEDL5 3
  • RCD-8 3
  • Ge-1 3
  • RCD8 3
  • GE1 3

External Ids for EDC4 Gene

Previous GeneCards Identifiers for EDC4 Gene

  • GC16P066465
  • GC16P067906
  • GC16P053780

Summaries for EDC4 Gene

GeneCards Summary for EDC4 Gene

EDC4 (Enhancer Of MRNA Decapping 4) is a Protein Coding gene. Diseases associated with EDC4 include Griscelli Syndrome, Type 1 and Focal Hand Dystonia. Among its related pathways are Translational Control and Deadenylation-dependent mRNA decay.

UniProtKB/Swiss-Prot for EDC4 Gene

  • In the process of mRNA degradation, seems to play a role in mRNA decapping. Component of a complex containing DCP2 and DCP1A which functions in decapping of ARE-containing mRNAs. Promotes complex formation between DCP1A and DCP2. Enhances the catalytic activity of DCP2 (in vitro).

Additional gene information for EDC4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDC4 Gene

Genomics for EDC4 Gene

Regulatory Elements for EDC4 Gene

Enhancers for EDC4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H067555 1.5 Ensembl ENCODE dbSUPER 87.6 -316.7 -316715 2 ZNF493 ZFP64 ZNF121 FOS KLF7 ZNF202 ZC3H11A REST ZNF623 ZNF518A ZDHHC1 EDC4 CENPT ENSG00000260465 CTCF ENKD1 NAE1 E2F4 ENSG00000263276 ACD
GH16H067992 1.6 FANTOM5 ENCODE dbSUPER 39.2 +121.9 121856 4.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 SP3 PRMT7 EDC4 ACD CENPT CTCF ENSG00000263276 DDX28 E2F4 KIAA0895L SLC7A6OS
GH16H068842 1.1 ENCODE 51.3 +970.9 970874 1.9 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 EDC4 CHTF8 CENPT NONOP1 ZFP90 NFAT5 SNTB2 ENSG00000263276 SLC7A6OS PSKH1
GH16H067987 1.1 Ensembl ENCODE 48.4 +114.6 114620 1 ELF3 ZNF493 ZFP64 ARID4B RAD21 KLF7 ZNF680 ZC3H11A REST ZNF518A ZDHHC1 EDC4 CENPT ENKD1 CTCF E2F4 FBXL8 ACD ENSG00000263276 KIAA0895L
GH16H068750 1.5 Ensembl ENCODE dbSUPER 33.3 +881.4 881442 8.8 HDGF PKNOX1 SIN3A TCF12 GTF3C2 GATA2 ZNF207 FOS ATF7 RUNX3 EDC4 CENPT NFAT5 CHTF8 PRMT7 ZFP90 SNTB2 NIP7 ENSG00000263276 ENSG00000262514
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDC4 on UCSC Golden Path with GeneCards custom track

Promoters for EDC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087190 377 1201 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Locations for EDC4 Gene

Genomic Locations for EDC4 Gene
chr16:67,873,023-67,884,514
(GRCh38/hg38)
Size:
11,492 bases
Orientation:
Plus strand
chr16:67,906,926-67,918,406
(GRCh37/hg19)

Genomic View for EDC4 Gene

Genes around EDC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDC4 Gene

Proteins for EDC4 Gene

  • Protein details for EDC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P2E9-EDC4_HUMAN
    Recommended name:
    Enhancer of mRNA-decapping protein 4
    Protein Accession:
    Q6P2E9
    Secondary Accessions:
    • A6NGM1
    • A8K4T4
    • Q13025
    • Q13826
    • Q6ZR12
    • Q7Z6H7

    Protein attributes for EDC4 Gene

    Size:
    1401 amino acids
    Molecular mass:
    151661 Da
    Quaternary structure:
    • Part of a decapping complex consisting of DCP1A, DCP2, EDC3, EDC4 and probably DDX6. Part of a complex consisting of DCP1A, EDC3, EDC4 and DDX6. Part of a complex consisting of DCP1B, EDC3, EDC4 and DDX6. Interacts with DCP2 (PubMed:16364915). Interacts with RC3H1 (By similarity). Interacts with NBDY (PubMed:27918561).
    SequenceCaution:
    • Sequence=AAA21833.1; Type=Frameshift; Positions=1189; Evidence={ECO:0000305}; Sequence=AAB51444.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH53598.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EDC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDC4 Gene

Post-translational modifications for EDC4 Gene

  • Ubiquitination at posLast=11571157
  • Modification sites at PhosphoSitePlus

Other Protein References for EDC4 Gene

No data available for DME Specific Peptides for EDC4 Gene

Domains & Families for EDC4 Gene

Gene Families for EDC4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EDC4 Gene

Suggested Antigen Peptide Sequences for EDC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6P2E9

UniProtKB/Swiss-Prot:

EDC4_HUMAN :
  • Belongs to the WD repeat EDC4 family.
Family:
  • Belongs to the WD repeat EDC4 family.
genes like me logo Genes that share domains with EDC4: view

Function for EDC4 Gene

Molecular function for EDC4 Gene

UniProtKB/Swiss-Prot Function:
In the process of mRNA degradation, seems to play a role in mRNA decapping. Component of a complex containing DCP2 and DCP1A which functions in decapping of ARE-containing mRNAs. Promotes complex formation between DCP1A and DCP2. Enhances the catalytic activity of DCP2 (in vitro).

Phenotypes From GWAS Catalog for EDC4 Gene

Gene Ontology (GO) - Molecular Function for EDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15231747
genes like me logo Genes that share ontologies with EDC4: view
genes like me logo Genes that share phenotypes with EDC4: view

Animal Models for EDC4 Gene

MGI Knock Outs for EDC4:
  • Edc4 tm1a(EUCOMM)Wtsi

miRNA for EDC4 Gene

Clone Products

  • Addgene plasmids for EDC4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EDC4 Gene

Localization for EDC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDC4 Gene

Cytoplasm, P-body. Nucleus.

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 EDC4 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (4)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IDA 20826699
GO:0005634 nucleus IEA,IDA 7520377
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 9067524
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with EDC4: view

Pathways & Interactions for EDC4 Gene

genes like me logo Genes that share pathways with EDC4: view

Pathways by source for EDC4 Gene

1 Cell Signaling Technology pathway for EDC4 Gene
1 KEGG pathway for EDC4 Gene

Gene Ontology (GO) - Biological Process for EDC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031087 deadenylation-independent decapping of nuclear-transcribed mRNA IBA --
GO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS --
genes like me logo Genes that share ontologies with EDC4: view

No data available for SIGNOR curated interactions for EDC4 Gene

Drugs & Compounds for EDC4 Gene

No Compound Related Data Available

Transcripts for EDC4 Gene

Unigene Clusters for EDC4 Gene

Enhancer of mRNA decapping 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for EDC4

Alternative Splicing Database (ASD) splice patterns (SP) for EDC4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 18a · 18b ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b ^ 27a · 27b · 27c · 27d · 27e ^ 28 ^ 29a ·
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20:
SP21:
SP22: - -
SP23:

ExUns: 29b · 29c ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b · 33c · 33d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - - -
SP19:
SP20:
SP21: - - - - - -
SP22: - - - -
SP23:

Relevant External Links for EDC4 Gene

GeneLoc Exon Structure for
EDC4
ECgene alternative splicing isoforms for
EDC4

Expression for EDC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EDC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EDC4 Gene

This gene is overexpressed in Bone (16.6), Breast (15.9), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EDC4 Gene



Protein tissue co-expression partners for EDC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EDC4 Gene:

EDC4

SOURCE GeneReport for Unigene cluster for EDC4 Gene:

Hs.75682

Evidence on tissue expression from TISSUES for EDC4 Gene

  • Blood(4.3)
  • Intestine(4.3)
  • Liver(4.3)
  • Skin(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with EDC4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EDC4 Gene

Orthologs for EDC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for EDC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDC4 33 34
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia EDC4 33 34
  • 90.8 (n)
cow
(Bos Taurus)
Mammalia EDC4 33 34
  • 89.79 (n)
rat
(Rattus norvegicus)
Mammalia Edc4 33
  • 88.82 (n)
mouse
(Mus musculus)
Mammalia Edc4 33 16 34
  • 88.54 (n)
oppossum
(Monodelphis domestica)
Mammalia EDC4 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDC4 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDC4 33 34
  • 73.25 (n)
lizard
(Anolis carolinensis)
Reptilia EDC4 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edc4 33
  • 63.63 (n)
Str.16020 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53087 33
zebrafish
(Danio rerio)
Actinopterygii edc4 33 34
  • 65.33 (n)
wufe26b05 33
fruit fly
(Drosophila melanogaster)
Insecta Ge-1 34
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y44E3A.6 34
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.563 34
  • 55 (a)
OneToMany
-- 34
  • 29 (a)
OneToMany
Species where no ortholog for EDC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for EDC4 Gene

ENSEMBL:
Gene Tree for EDC4 (if available)
TreeFam:
Gene Tree for EDC4 (if available)

Paralogs for EDC4 Gene

No data available for Paralogs for EDC4 Gene

Variants for EDC4 Gene

Sequence variations from dbSNP and Humsavar for EDC4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000217523 -- 67,880,426(+) GCCTC(A/G)TTTTT intron-variant
rs1000491813 -- 67,873,193(+) GGTGA(G/T)CGAGG utr-variant-5-prime
rs1000842486 -- 67,873,411(+) CCGCC(A/T)TTGGG intron-variant
rs1001072909 -- 67,876,814(+) GGGAT(A/G)TTGGG intron-variant
rs1001232055 -- 67,872,067(+) GGGGA(G/T)TCTTA upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for EDC4 Gene

Variant ID Type Subtype PubMed ID
nsv524363 CNV loss 19592680
nsv522852 CNV gain 19592680
nsv1844 CNV deletion 18451855

Variation tolerance for EDC4 Gene

Residual Variation Intolerance Score: 2.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDC4 Gene

Disorders for EDC4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EDC4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
griscelli syndrome, type 1
  • griscelli syndrome type 1
focal hand dystonia
  • organic writer's cramp
- elite association - COSMIC cancer census association via MalaCards
Search EDC4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EDC4

Genetic Association Database (GAD)
EDC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDC4
genes like me logo Genes that share disorders with EDC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EDC4 Gene

Publications for EDC4 Gene

  1. Cytoplasmic detection of a novel protein containing a nuclear localization sequence by human autoantibodies. (PMID: 9067524) Garcia-Lozano JR … Nuñez-Roldan A (Clinical and experimental immunology 1997) 2 3 4 60
  2. A human microprotein that interacts with the mRNA decapping complex. (PMID: 27918561) D'Lima NG … Slavoff SA (Nature chemical biology 2017) 3 4 60
  3. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (PMID: 22399527) Kristiansson K … Salomaa V (Circulation. Cardiovascular genetics 2012) 3 45 60
  4. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 45 60
  5. Multiple processing body factors and the ARE binding protein TTP activate mRNA decapping. (PMID: 16364915) Fenger-Grøn M … Lykke-Andersen J (Molecular cell 2005) 3 4 60

Products for EDC4 Gene

  • Addgene plasmids for EDC4

Sources for EDC4 Gene

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