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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
  • STAT3-Interacting Protein 1 3 4
  • STATIP1 3 4
  • SHINC-2 3 4
  • StIP1 3 4
  • Signal Transducer And Activator Of Transcription Interacting Protein 1 3
  • Elongation Protein 2 Homolog (S. Cerevisiae) 2
  • Elongation Protein 2 Homolog 3
  • Elongator Protein 2 3
  • StIP 3

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

GeneCards Summary for ELP2 Gene

ELP2 (Elongator Acetyltransferase Complex Subunit 2) is a Protein Coding gene. Diseases associated with ELP2 include Spastic Cerebral Palsy. Among its related pathways are Chromatin organization and TGF-Beta Pathway. GO annotations related to this gene include protein kinase binding and RNA polymerase II core binding.

UniProtKB/Swiss-Prot for ELP2 Gene

  • Regulates the ligand-dependent activation of STAT3.

  • 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 ELP2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELP2 Gene

Genomics for ELP2 Gene

Regulatory Elements for ELP2 Gene

Enhancers for ELP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ELP2 on UCSC Golden Path with GeneCards custom track

Promoters for ELP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELP2 Gene

Chromosome:
18
Start:
36,129,444 bp from pter
End:
36,180,556 bp from pter
Size:
51,113 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:
    • Interacts with STAT3 and JAKs (By similarity). Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, and two yet unidentified proteins, p30 and p38. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit.

    Alternative splice isoforms for ELP2 Gene

neXtProt entry for ELP2 Gene

Proteomics data for ELP2 Gene at MOPED

Post-translational modifications for ELP2 Gene

  • Ubiquitination at Lys 419, Lys 459, and Lys 682
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ELP2 Gene

Domains & Families for ELP2 Gene

Protein Domains for ELP2 Gene

Suggested Antigen Peptide Sequences for ELP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6IA86

UniProtKB/Swiss-Prot:

ELP2_HUMAN :
  • Belongs to the WD repeat ELP2 family.
  • Contains 14 WD repeats.
Family:
  • Belongs to the WD repeat ELP2 family.
Similarity:
  • Contains 14 WD repeats.
genes like me logo Genes that share domains with ELP2: view

Function for ELP2 Gene

Molecular function for ELP2 Gene

UniProtKB/Swiss-Prot Function:
Regulates the ligand-dependent activation of STAT3.
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.

Gene Ontology (GO) - Molecular Function for ELP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ELP2: view

Phenotypes for ELP2 Gene

GenomeRNAi human phenotypes for ELP2:
genes like me logo Genes that share phenotypes with ELP2: view

miRNA for ELP2 Gene

miRTarBase miRNAs that target ELP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for ELP2 Gene COMPARTMENTS Subcellular localization image for ELP2 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for ELP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 11714725
genes like me logo Genes that share ontologies with ELP2: view

Pathways & Interactions for ELP2 Gene

genes like me logo Genes that share pathways with ELP2: view

Pathways by source for ELP2 Gene

1 Qiagen pathway for ELP2 Gene

Gene Ontology (GO) - Biological Process for ELP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS 11714725
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

Unigene Clusters for ELP2 Gene

Elongator acetyltransferase complex subunit 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ELP2

Expression for ELP2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for ELP2 Gene



SOURCE GeneReport for Unigene cluster for ELP2 Gene Hs.8739

genes like me logo Genes that share expression patterns with ELP2: view

Protein tissue co-expression partners for ELP2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ELP2 35
  • 89.31 (n)
  • 89.1 (a)
ELP2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELP2 35
  • 91.04 (n)
  • 91.27 (a)
ELP2 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elp2 35
  • 81.5 (n)
  • 79.76 (a)
Elp2 16
Elp2 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ELP2 35
  • 99.56 (n)
  • 99.64 (a)
ELP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elp2 35
  • 81.36 (n)
  • 80.15 (a)
oppossum
(Monodelphis domestica)
Mammalia ELP2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELP2 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELP2 35
  • 69.4 (n)
  • 65.36 (a)
ELP2 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELP2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elp2 35
  • 65.16 (n)
  • 61.86 (a)
zebrafish
(Danio rerio)
Actinopterygii elp2 35
  • 61.04 (n)
  • 58.25 (a)
elp2 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11887 37
  • 40 (a)
Elp2 35
  • 50.9 (n)
  • 45.31 (a)
Elp2 36
  • 42 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006889 35
  • 47.57 (n)
  • 41.92 (a)
worm
(Caenorhabditis elegans)
Secernentea Y111B2A.17 37
  • 34 (a)
elpc-2 36
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL116W 35
  • 45.86 (n)
  • 36.42 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22000g 35
  • 46.58 (n)
  • 34.69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELP2 35
  • 48.77 (n)
  • 36.28 (a)
ELP2 36
  • 29 (a)
OneToOne
ELP2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ELP2 35
  • 49.21 (n)
  • 39.5 (a)
rice
(Oryza sativa)
Liliopsida Os.19179 35
Os08g0493900 35
  • 50.66 (n)
  • 40.24 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14172 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04176 35
  • 43.84 (n)
  • 34.94 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes elp2 35
  • 46.49 (n)
  • 37.07 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for ELP2:
  • 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)

Paralogs for ELP2 Gene

No data available for Paralogs for ELP2 Gene

Variants for ELP2 Gene

Sequence variations from dbSNP and Humsavar for ELP2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1785934 - 36,138,363(-) CAGTG(G/T)ACATA nc-transcript-variant, reference, missense
rs1785928 - 36,145,968(-) TCTCA(C/T)TGGCT nc-transcript-variant, reference, missense
rs16967474 - 36,146,332(+) TGCTC(A/G)TGCTT intron-variant, nc-transcript-variant, reference, missense
rs12607773 - 36,174,544(+) AACTG(A/G)ACAGA nc-transcript-variant, reference, missense
rs1044128 - 36,174,577(+) GTTAC(A/C)CTTTG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv526055 CNV Loss 19592680

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)

Relevant External Links for ELP2 Gene

Human Gene Mutation Database (HGMD)
ELP2

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

Disorders for ELP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic cerebral palsy
- elite association - COSMIC cancer census association via MalaCards
Search ELP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ELP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELP2
genes like me logo Genes that share disorders with ELP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELP2 Gene

Publications for ELP2 Gene

  1. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes N.A. … Svejstrup J.Q. (J. Biol. Chem. 2002) 2 3 4 67
  2. A Stat3-interacting protein (StIP1) regulates cytokine signal transduction. (PMID: 10954736) Collum R.G. … Schindler C. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 23
  3. ELP2 is a novel gene implicated in neurodevelopmental disabilities. (PMID: 25847581) Cohen J.S. … Fatemi A. (Am. J. Med. Genet. A 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ELP2 Gene

Sources for ELP2 Gene

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