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Aliases for ELP4 Gene

Aliases for ELP4 Gene

  • Elongator Acetyltransferase Complex Subunit 4 2 3 5
  • PAX6 Neighbor Gene Protein 3 4
  • C11orf19 3 4
  • PAXNEB 3 4
  • HELP4 3 4
  • Elongation Protein 4 Homolog (S. Cerevisiae) 2
  • Chromosome 11 Open Reading Frame 19 2
  • Elongation Protein 4 Homolog 3
  • Elongator Complex Protein 4 3
  • DJ68P15A.1 3
  • PAX6NEB 3
  • AN2 3
  • AN 3

External Ids for ELP4 Gene

Previous HGNC Symbols for ELP4 Gene

  • C11orf19

Previous GeneCards Identifiers for ELP4 Gene

  • GC11U990232
  • GC11P032306
  • GC11P031570
  • GC11P031495
  • GC11P031226

Summaries for ELP4 Gene

Entrez Gene Summary for ELP4 Gene

  • This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for ELP4 Gene

ELP4 (Elongator Acetyltransferase Complex Subunit 4) is a Protein Coding gene. Diseases associated with ELP4 include Aniridia 2 and Aniridia. Among its related pathways are Mesodermal Commitment Pathway and Chromatin organization. GO annotations related to this gene include histone acetyltransferase activity and phosphorylase kinase regulator activity.

UniProtKB/Swiss-Prot for ELP4 Gene

  • Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4.

Gene Wiki entry for ELP4 Gene

Additional gene information for ELP4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELP4 Gene

Genomics for ELP4 Gene

Regulatory Elements for ELP4 Gene

Enhancers for ELP4 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
GH11H031645 0.9 Ensembl ENCODE 4.9 +136.5 136518 1.7 JUN CEBPB EP300 FOSL1 ZSCAN21 NFIC JUND MAFF POLR2A NCOR1 ELP4 GC11P031684
GH11H031508 1.1 ENCODE 0.7 +0.4 357 3.6 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 BRCA1 YY1 ETS1 IMMP1L ELP4 GC11P031684
GH11H031143 0.3 FANTOM5 2 -365.7 -365710 0 DNAJC24 IMMP1L ELP4 GC11P031127 GC11M031165
GH11H031429 0.3 FANTOM5 1.6 -80.4 -80449 0.1 DNAJC24 PAX6 ELP4 IMMP1L GC11M031425
GH11H031635 1.7 dbSUPER 0.1 +130.7 130662 8.9 CTCF PKNOX1 RAD21 YY1 GATA3 POLR2A ZNF366 SMC3 ZNF143 ZNF654 DCDC1 IMMP1L GC11P031684 ELP4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELP4 on UCSC Golden Path with GeneCards custom track

Promoters for ELP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for ELP4 Gene

Genomic Locations for ELP4 Gene
280,629 bases
Plus strand

Genomic View for ELP4 Gene

Genes around ELP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELP4 Gene

Proteins for ELP4 Gene

  • Protein details for ELP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Elongator complex protein 4
    Protein Accession:
    Secondary Accessions:
    • B4E3W0
    • E7EPZ6
    • Q9H4E8
    • Q9NX11

    Protein attributes for ELP4 Gene

    424 amino acids
    Molecular mass:
    46588 Da
    Quaternary structure:
    • Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit.

    Alternative splice isoforms for ELP4 Gene


neXtProt entry for ELP4 Gene

Post-translational modifications for ELP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ELP4 Gene

Domains & Families for ELP4 Gene

Gene Families for ELP4 Gene

Protein Domains for ELP4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ELP4 family.
  • Belongs to the ELP4 family.
genes like me logo Genes that share domains with ELP4: view

Function for ELP4 Gene

Molecular function for ELP4 Gene

UniProtKB/Swiss-Prot Function:
Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4.

Phenotypes From GWAS Catalog for ELP4 Gene

Gene Ontology (GO) - Molecular Function for ELP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 contributes_to RNA polymerase II core binding IDA 11714725
GO:0004402 contributes_to histone acetyltransferase activity IDA 11714725
GO:0005515 protein binding IPI 17577209
GO:0008607 phosphorylase kinase regulator activity IDA 11818576
genes like me logo Genes that share ontologies with ELP4: view
genes like me logo Genes that share phenotypes with ELP4: view

Human Phenotype Ontology for ELP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ELP4 Gene

miRTarBase miRNAs that target ELP4

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ELP4 Gene

Localization for ELP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELP4 Gene

Cytoplasm. Nucleus.

Subcellular locations from

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 ELP4 gene
Compartment Confidence
nucleus 5
mitochondrion 2
peroxisome 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ELP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 11714725
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 11818576
GO:0008023 transcription elongation factor complex IDA 11714725
genes like me logo Genes that share ontologies with ELP4: view

Pathways & Interactions for ELP4 Gene

genes like me logo Genes that share pathways with ELP4: view

Pathways by source for ELP4 Gene

Gene Ontology (GO) - Biological Process for ELP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 11714725
GO:0006368 transcription elongation from RNA polymerase II promoter TAS 11714725
GO:0043966 histone H3 acetylation IDA 11714725
genes like me logo Genes that share ontologies with ELP4: view

No data available for SIGNOR curated interactions for ELP4 Gene

Drugs & Compounds for ELP4 Gene

No Compound Related Data Available

Transcripts for ELP4 Gene

Unigene Clusters for ELP4 Gene

Elongator acetyltransferase complex subunit 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELP4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP2: - -

Relevant External Links for ELP4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ELP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELP4 Gene

Protein differential expression in normal tissues from HIPED for ELP4 Gene

This gene is overexpressed in Breast (36.7) and Peripheral blood mononuclear cells (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELP4 Gene

Protein tissue co-expression partners for ELP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELP4 Gene:


SOURCE GeneReport for Unigene cluster for ELP4 Gene:


mRNA Expression by UniProt/SwissProt for ELP4 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for ELP4 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ELP4 Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ELP4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ELP4 Gene

Orthologs for ELP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELP4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ELP4 33 34
  • 99.29 (n)
(Canis familiaris)
Mammalia ELP4 33 34
  • 89.2 (n)
(Bos Taurus)
Mammalia ELP4 33 34
  • 89.05 (n)
(Mus musculus)
Mammalia Elp4 33 16 34
  • 83.41 (n)
(Rattus norvegicus)
Mammalia LOC365839 33
  • 83.25 (n)
(Ornithorhynchus anatinus)
Mammalia ELP4 34
  • 71 (a)
(Monodelphis domestica)
Mammalia ELP4 34
  • 64 (a)
(Gallus gallus)
Aves ELP4 33 34
  • 72.35 (n)
(Anolis carolinensis)
Reptilia ELP4 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia elp4 33
  • 66.17 (n)
(Danio rerio)
Actinopterygii elp4 33 34
  • 60.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010407 33
  • 49.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6907 33 34
  • 48.12 (n)
(Caenorhabditis elegans)
Secernentea elpc-4 33 34
  • 44.04 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ELO1 33
  • 41.22 (n)
(Oryza sativa)
Liliopsida Os06g0639600 33
  • 43.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
Species where no ortholog for ELP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ELP4 Gene

Gene Tree for ELP4 (if available)
Gene Tree for ELP4 (if available)

Paralogs for ELP4 Gene

genes like me logo Genes that share paralogs with ELP4: view

No data available for Paralogs for ELP4 Gene

Variants for ELP4 Gene

Sequence variations from dbSNP and Humsavar for ELP4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs606231388 Pathogenic 31,664,397(+) CGTAT(A/C)ACTTC intron-variant
rs146579778 Likely benign 31,784,826(+) AATAA(C/T)TGAAT downstream-variant-500B, utr-variant-3-prime
rs886048180 Uncertain significance 31,785,013(-) TTAGA(ATT/CACAGATTAAAAGAAATG)AAAAG downstream-variant-500B, utr-variant-3-prime
rs1000004488 -- 31,580,196(+) ACTAT(A/C)TTTGC intron-variant
rs1000004608 -- 31,722,500(+) AAGTT(G/T)TAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELP4 Gene

Variant ID Type Subtype PubMed ID
nsv951596 CNV duplication 24416366
nsv825814 CNV gain 20364138
nsv825813 CNV loss 20364138
nsv7727 CNV deletion 18451855
nsv7726 CNV deletion 18451855
nsv553989 CNV loss 21841781
nsv553988 CNV loss 21841781
nsv553949 CNV loss 21841781
nsv529004 CNV loss 19592680
nsv467785 CNV loss 19166990
nsv1054175 CNV gain 25217958
nsv1052451 CNV loss 25217958
nsv1047475 CNV loss 25217958
esv3625839 CNV loss 21293372
esv3625837 CNV gain 21293372
esv3625835 CNV loss 21293372
esv3625834 CNV loss 21293372
esv3625833 CNV loss 21293372
esv3625832 CNV gain 21293372
esv3625831 CNV loss 21293372
esv3625830 CNV gain 21293372
esv2751022 CNV loss 17911159
esv2671224 CNV deletion 23128226
esv2669864 CNV deletion 23128226
esv2659609 CNV deletion 23128226
dgv62n21 CNV loss 19592680
dgv339e212 CNV gain 25503493
dgv189e214 CNV loss 21293372
dgv1740n54 CNV loss 21841781
dgv1092n100 CNV loss 25217958
dgv1091n100 CNV loss 25217958
dgv1090n100 CNV loss 25217958
dgv1089n100 CNV loss 25217958

Variation tolerance for ELP4 Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELP4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELP4 Gene

Disorders for ELP4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ELP4 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aniridia 2
  • an2
  • cataract with late-onset corneal dystrophy
benign epilepsy with centrotemporal spikes
  • bcects
iris hypoplasia
  • hypoplasia of the iris
landau-kleffner syndrome
  • acquired epileptic aphasia
- elite association - COSMIC cancer census association via MalaCards
Search ELP4 in MalaCards View complete list of genes associated with diseases


  • Aniridia 2 (AN2) [MIM:617141]: A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269 PubMed:24290376}. Note=The disease is caused by mutations affecting the gene represented in this entry. A disease-causing mutation is located in intron 9 of ELP4. The mutation does not alter normal ELP4 expression and function, but disrupts a long-range cis-regulatory element of PAX6 expression, known as SIMO. SIMO is contained within ELP4 intron 9 and located 150 kb downstream of PAX6. {ECO:0000269 PubMed:24290376}.

Relevant External Links for ELP4

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ELP4: view

No data available for Genatlas for ELP4 Gene

Publications for ELP4 Gene

  1. Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance. (PMID: 11889558) Kleinjan DA … van Heyningen V (Mammalian genome : official journal of the International Mammalian Genome Society 2002) 2 3 4 22 60
  2. DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. (PMID: 22854966) Close P … Chariot A (The Journal of biological chemistry 2012) 3 4 60
  3. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes NA … Svejstrup JQ (The Journal of biological chemistry 2002) 3 4 60
  4. Human Elongator facilitates RNA polymerase II transcription through chromatin. (PMID: 11818576) Kim JH … Reinberg D (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 60
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 60

Products for ELP4 Gene

Sources for ELP4 Gene

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