The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016] See more...

Aliases for ELP2 Gene

Aliases for ELP2 Gene

  • Elongator Acetyltransferase Complex Subunit 2 2 3 5
  • Signal Transducer And Activator Of Transcription 3 Interacting Protein 1 2 3
  • Elongator Complex Protein 2 3 4
  • STAT3-Interacting Protein 1 3 4
  • SHINC-2 3 4
  • STATIP1 3 4
  • StIP 2 3
  • Elongation Protein 2 Homolog (S. Cerevisiae) 2
  • Elongation Protein 2 Homolog 3
  • Elongator Protein 2 3
  • FLJ10879 2
  • MRT58 3
  • StIP1 4
  • ELP2 5

External Ids for ELP2 Gene

Previous HGNC Symbols for ELP2 Gene

  • STATIP1

Previous GeneCards Identifiers for ELP2 Gene

  • GC18P033739
  • GC18P031964
  • GC18P030568
  • GC18P033709

Summaries for ELP2 Gene

Entrez Gene Summary for ELP2 Gene

  • The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

GeneCards Summary for ELP2 Gene

ELP2 (Elongator Acetyltransferase Complex Subunit 2) is a Protein Coding gene. Diseases associated with ELP2 include Mental Retardation, Autosomal Recessive 58 and Autosomal Recessive Intellectual Disability 58. Among its related pathways are Chromatin organization and TGF-Beta Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and RNA polymerase II complex binding.

UniProtKB/Swiss-Prot Summary for ELP2 Gene

  • Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244).

Gene Wiki entry for ELP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELP2 Gene

Genomics for ELP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELP2

Top Transcription factor binding sites by QIAGEN in the ELP2 gene promoter:
  • AREB6
  • C/EBPalpha
  • CP2
  • FOXO1
  • FOXO1a
  • FOXO4
  • GATA-1
  • Gfi-1
  • NCX

Genomic Locations for ELP2 Gene

Genomic Locations for ELP2 Gene
chr18:36,129,444-36,180,557
(GRCh38/hg38)
Size:
51,114 bases
Orientation:
Plus strand
chr18:33,709,407-33,757,909
(GRCh37/hg19)
Size:
48,503 bases
Orientation:
Plus strand

Genomic View for ELP2 Gene

Genes around ELP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELP2 Gene

Proteins for ELP2 Gene

  • Protein details for ELP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IA86-ELP2_HUMAN
    Recommended name:
    Elongator complex protein 2
    Protein Accession:
    Q6IA86
    Secondary Accessions:
    • A8KAI6
    • B4DTG0
    • B4DXP0
    • E7EP23
    • E9PCX0
    • Q53GZ0
    • Q687Y8
    • Q8N5C2
    • Q96GV4
    • Q96PI7
    • Q9H9N0
    • Q9NV81

    Protein attributes for ELP2 Gene

    Size:
    826 amino acids
    Molecular mass:
    92500 Da
    Quaternary structure:
    • Component of the RNA polymerase II elongator complex (Elongator), which consists of ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6 (PubMed:11714725, PubMed:11818576, PubMed:22854966). Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit (PubMed:11714725, PubMed:11818576, PubMed:22854966). Interacts with STAT3 and JAKs (By similarity).
    Miscellaneous:
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for ELP2 Gene

neXtProt entry for ELP2 Gene

Post-translational modifications for ELP2 Gene

  • Ubiquitination at Lys419, Lys459, and Lys682
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ELP2 Gene

Domains & Families for ELP2 Gene

Gene Families for ELP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ELP2 Gene

Suggested Antigen Peptide Sequences for ELP2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58621, highly similar to Stat3-interacting protein (B4DTG0_HUMAN)
  • STAT3-interacting protein 1 (ELP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6IA86

UniProtKB/Swiss-Prot:

ELP2_HUMAN :
  • Belongs to the WD repeat ELP2 family.
Family:
  • Belongs to the WD repeat ELP2 family.
genes like me logo Genes that share domains with ELP2: view

Function for ELP2 Gene

Molecular function for ELP2 Gene

UniProtKB/Swiss-Prot Function:
Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244).

Gene Ontology (GO) - Molecular Function for ELP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 contributes_to RNA polymerase II complex binding IDA 11714725
GO:0005515 protein binding IEA --
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with ELP2: view
genes like me logo Genes that share phenotypes with ELP2: view

Human Phenotype Ontology for ELP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ELP2 Gene

miRTarBase miRNAs that target ELP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ELP2 Gene

Localization for ELP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELP2 Gene

Cytoplasm. 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 ELP2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm NAS 11714725
GO:0005829 cytosol IDA --
GO:0008023 transcription elongation factor complex IDA 11714725
genes like me logo Genes that share ontologies with ELP2: view

Pathways & Interactions for ELP2 Gene

PathCards logo

SuperPathways for ELP2 Gene

SuperPathway Contained pathways
1 Chromatin organization
2 TGF-Beta Pathway
.57
genes like me logo Genes that share pathways with ELP2: view

Pathways by source for ELP2 Gene

1 Qiagen pathway for ELP2 Gene
  • JAK-STAT Pathway

UniProtKB/Swiss-Prot Q6IA86-ELP2_HUMAN

  • Pathway: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.

Gene Ontology (GO) - Biological Process for ELP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002098 tRNA wobble uridine modification IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS 11714725
GO:0006368 transcription elongation from RNA polymerase II promoter TAS 11714725
GO:0008033 tRNA processing IEA --
GO:0046425 regulation of JAK-STAT cascade IEA --
genes like me logo Genes that share ontologies with ELP2: view

No data available for SIGNOR curated interactions for ELP2 Gene

Drugs & Compounds for ELP2 Gene

No Compound Related Data Available

Transcripts for ELP2 Gene

mRNA/cDNA for ELP2 Gene

11 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP2

Alternative Splicing Database (ASD) splice patterns (SP) for ELP2 Gene

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

ExUns: 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15: - - - - -
SP16:
SP17:
SP18: - - -
SP19:
SP20:

Relevant External Links for ELP2 Gene

GeneLoc Exon Structure for
ELP2

Expression for ELP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELP2 Gene

Protein differential expression in normal tissues from HIPED for ELP2 Gene

This gene is overexpressed in Lymph node (18.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELP2 Gene



Protein tissue co-expression partners for ELP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELP2

SOURCE GeneReport for Unigene cluster for ELP2 Gene:

Hs.8739

Evidence on tissue expression from TISSUES for ELP2 Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Blood(4.4)
  • Skin(2.4)
  • Intestine(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with ELP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELP2 Gene

Orthologs for ELP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ELP2 30 31
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ELP2 30 31
  • 91.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ELP2 30 31
  • 89.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Elp2 30 17 31
  • 81.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Elp2 30
  • 81.36 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ELP2 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ELP2 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ELP2 30 31
  • 69.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELP2 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elp2 30
  • 65.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii elp2 30 31
  • 61.04 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Elp2 30 31
  • 50.9 (n)
OneToOne
CG11887 32
  • 40 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006889 30
  • 47.57 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y111B2A.17 32
  • 34 (a)
elpc-2 31
  • 31 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELP2 30 31 33
  • 48.77 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22000g 30
  • 46.58 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACL116W 30
  • 45.86 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ELP2 30
  • 49.21 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0493900 30
  • 50.66 (n)
Os.19179 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes elp2 30
  • 46.49 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU04176 30
  • 43.84 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14172 30
Species where no ortholog for ELP2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 ELP2 Gene

ENSEMBL:
Gene Tree for ELP2 (if available)
TreeFam:
Gene Tree for ELP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELP2: view image

Paralogs for ELP2 Gene

No data available for Paralogs for ELP2 Gene

Variants for ELP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELP2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
710518 Likely Benign: not provided 36,136,313(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
710519 Benign: not provided 36,171,050(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
711217 Benign: not provided 36,171,085(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
721087 Likely Benign: not provided 36,156,549(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
721352 Likely Benign: not provided 36,170,128(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ELP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ELP2 Gene

Variant ID Type Subtype PubMed ID
nsv526055 CNV loss 19592680
nsv576651 CNV loss 21841781
nsv576652 CNV loss 21841781

Variation tolerance for ELP2 Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.97; 94.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELP2 Gene

Human Gene Mutation Database (HGMD)
ELP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELP2 Gene

Disorders for ELP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ELP2 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ELP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ELP2_HUMAN
  • Mental retardation, autosomal recessive 58 (MRT58) [MIM:617270]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT58 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:25847581}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with ELP2: view

No data available for Genatlas for ELP2 Gene

Publications for ELP2 Gene

  1. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes NA … Svejstrup JQ (The Journal of biological chemistry 2002) 2 3 4
  2. A Stat3-interacting protein (StIP1) regulates cytokine signal transduction. (PMID: 10954736) Collum RG … Schindler C (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 23
  3. ELP2 is a novel gene implicated in neurodevelopmental disabilities. (PMID: 25847581) Cohen JS … Fatemi A (American journal of medical genetics. Part A 2015) 3 4
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ELP2 Gene

  • Signalway Proteins for ELP2

Sources for ELP2 Gene