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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
  • Elongation Protein 2 Homolog (S. Cerevisiae) 2
  • Elongation Protein 2 Homolog 3
  • Elongator Complex Protein 2 3
  • Elongator Protein 2 3
  • MRT58 3
  • StIP1 4
  • 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

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 Mental Retardation, Autosomal Recessive 48. 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

Additional gene information for ELP2 Gene

No data available for CIViC 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 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
GH18H036127 1.4 ENCODE dbSUPER 46.6 +1.1 1090 5.2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ELP2 ENSG00000268573 ZNF397 KIAA1328 LOC101927809 MOCOS LOC791126 SLC39A6 PIR50550
GH18H035495 1.4 ENCODE dbSUPER 40.7 -632.4 -632399 3.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 ZC3H11A MEF2D ZNF397 ENSG00000268573 ELP2 ZSCAN30 RPRD1A C18orf21 ZNF271P ZNF396 INO80C ENSG00000267140
GH18H036178 1.2 Ensembl ENCODE dbSUPER 37 +50.5 50458 3.7 ZNF316 POLR2A ZSCAN29 PRDM10 MAFK CREM STAT1 HLF CEBPB TEAD2 ELP2 MOCOS LOC791126 GC18P036175 LOC101927809
GH18H036175 1.3 ENCODE dbSUPER 33.2 +46.9 46935 2.7 FOXA2 ATF1 MLX ARID4B DMAP1 BRCA1 YY1 SLC30A9 GATA2 ATF7 ELP2 MOCOS GC18P036175 LOC101927809
GH18H036155 1.1 FANTOM5 Ensembl ENCODE 38.1 +28.2 28167 4.1 PAF1 JUN FOS HNF4A REST PRDM1 ELP2 PIR50550 GC18P036175
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000102278 356 2801 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9

Genomic Locations for ELP2 Gene

Genomic Locations for ELP2 Gene
chr18:36,129,444-36,180,556
(GRCh38/hg38)
Size:
51,113 bases
Orientation:
Plus strand
chr18:33,709,407-33,757,909
(GRCh37/hg19)

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

Post-translational modifications for ELP2 Gene

  • Ubiquitination at posLast=419419, isoforms=2, 3, 4, 5, 6, 7459, and posLast=682682
  • 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):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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.
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:
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:0000993 contributes_to RNA polymerase II core binding IDA 11714725
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with ELP2: view

Phenotypes for ELP2 Gene

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

Clone Products

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 11714725
GO:0005634 nucleus IEA --
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

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: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: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

Unigene Clusters for ELP2 Gene

Elongator acetyltransferase complex subunit 2:
Representative Sequences:

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for ELP2 Gene



Protein tissue co-expression partners for ELP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELP2 Gene:

ELP2

SOURCE GeneReport for Unigene cluster for ELP2 Gene:

Hs.8739

Evidence on tissue expression from TISSUES for ELP2 Gene

  • Liver(4.3)
  • Nervous system(4.2)
  • Blood(4.1)
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 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia ELP2 33 34
  • 91.04 (n)
cow
(Bos Taurus)
Mammalia ELP2 33 34
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Elp2 33 16 34
  • 81.5 (n)
rat
(Rattus norvegicus)
Mammalia Elp2 33
  • 81.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELP2 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELP2 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELP2 33 34
  • 69.4 (n)
lizard
(Anolis carolinensis)
Reptilia ELP2 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elp2 33
  • 65.16 (n)
zebrafish
(Danio rerio)
Actinopterygii elp2 33 34
  • 61.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta Elp2 33 34
  • 50.9 (n)
CG11887 35
  • 40 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006889 33
  • 47.57 (n)
worm
(Caenorhabditis elegans)
Secernentea Y111B2A.17 35
  • 34 (a)
elpc-2 34
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELP2 33 34 36
  • 48.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F22000g 33
  • 46.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL116W 33
  • 45.86 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ELP2 33
  • 49.21 (n)
rice
(Oryza sativa)
Liliopsida Os08g0493900 33
  • 50.66 (n)
Os.19179 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes elp2 33
  • 46.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04176 33
  • 43.84 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14172 33
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)

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
rs767713084 Pathogenic, Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269] 36,156,574(+) TTCTT(C/T)GGGTT nc-transcript-variant, reference, missense
rs773432002 Pathogenic, Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269] 36,142,309(+) TGGAC(A/G)TGAGG intron-variant, nc-transcript-variant, reference, missense
rs371310428 Pathogenic 36,156,575(+) TCTTC(A/G/T)GGTTT nc-transcript-variant, reference, missense
rs772450541 Pathogenic 36,159,990(+) AGAAT(A/C/G)CTTTG nc-transcript-variant, reference, missense
rs748677134 Uncertain significance 36,174,504(+) TGGCT(A/G)TCAGA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv576652 CNV loss 21841781
nsv576651 CNV loss 21841781
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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELP2

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

Disorders for ELP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ELP2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 58
  • mrt58
mental retardation, autosomal recessive 48
  • progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
dysautonomia, familial
  • riley-day syndrome
- 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 48 (MRT48) [MIM:616269]: 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. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. {ECO:0000269 PubMed:25847581}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 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 60
  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 22 60
  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 60
  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 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for ELP2 Gene

Sources for ELP2 Gene

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