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ELP2 elongator acetyltransferase complex subunit 2 [ Homo sapiens (human) ]

Gene ID: 55250, updated on 2-Nov-2024

Summary

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Official Symbol
ELP2provided by HGNC
Official Full Name
elongator acetyltransferase complex subunit 2provided by HGNC
Primary source
HGNC:HGNC:18248
See related
Ensembl:ENSG00000134759 MIM:616054; AllianceGenome:HGNC:18248
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
StIP; MRT58; SHINC-2; STATIP1
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 15.2), endometrium (RPKM 11.7) and 25 other tissues See more
Orthologs
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Genomic context

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See ELP2 in Genome Data Viewer
Location:
18q12.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (36129899..36180557)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (36321463..36372122)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33709862..33760520)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene regulation of nuclear pre-mRNA domain containing 1A Neighboring gene Sharpr-MPRA regulatory region 15530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:33647245-33647760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:33664612-33665166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:33666275-33666828 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:33678780-33678940 Neighboring gene solute carrier family 39 member 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33709101-33709606 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33709607-33710112 Neighboring gene MPRA-validated peak3116 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33765682-33766504 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:33767264-33767527 Neighboring gene uncharacterized LOC124904286 Neighboring gene cell fate and sterol metabolism associated divergent transcript of MOCOS Neighboring gene molybdenum cofactor sulfurase Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:33820153-33820688 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:33820689-33821222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:33827157-33827657 Neighboring gene RNA, U4 small nuclear 3, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ELP2 is a novel gene implicated in neurodevelopmental disabilities. Cohen JS, et al. Am J Med Genet A, 2015 Jun. PMID 25847581
  2. Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder. Dogan M, et al. Mol Biol Rep, 2021 Jan. PMID 33393008
  3. ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature. Russo A, et al. Eur J Med Genet, 2021 Dec. PMID 34653680
  4. Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings. Khalilov D, et al. Neurocase, 2022 Dec. PMID 36787709
  5. Inhibition of STAT3-interacting protein 1 (STATIP1) promotes STAT3 transcriptional up-regulation and imatinib mesylate resistance in the chronic myeloid leukemia. Mencalha AL, et al. BMC Cancer, 2014 Nov 23. PMID 25417721, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
    Title: Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
  2. ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.
    Title: ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.
  3. Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival.
    Title: Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival.
  4. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
    Title: Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
  5. Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.
    Title: Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.
  6. ELP2 mutation is implicated in severe intellectual disability, spastic diplegia, and self-injurious behavior described in two brothers.
    Title: ELP2 is a novel gene implicated in neurodevelopmental disabilities.
  7. Studied the possible relationship between STATIP1, STAT3 and CML resistance.
    Title: Inhibition of STAT3-interacting protein 1 (STATIP1) promotes STAT3 transcriptional up-regulation and imatinib mesylate resistance in the chronic myeloid leukemia.
  8. Elp2 and STAT-3 mediate, at least in part, the stimulation of Hsp70 expression by 4PBA.
    Title: 4-Phenylbutyrate stimulates Hsp70 expression through the Elp2 component of elongator and STAT-3 in cystic fibrosis epithelial cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual disability, autosomal recessive 58
MedGen: C4310641 OMIM: 617270 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10879

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to RNA polymerase II complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of receptor signaling pathway via JAK-STAT IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of translation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in tRNA wobble uridine modification NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in transcription elongation by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
part_of elongator holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of elongator holoenzyme complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of elongator holoenzyme complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of transcription elongation factor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
elongator complex protein 2
Names
STAT3-interacting protein 1
elongation protein 2 homolog
elongator protein 2
signal transducer and activator of transcription 3 interacting protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050745.2 RefSeqGene

    Range
    5002..55660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242875.3 → NP_001229804.1  elongator complex protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC023043, AC091060, AK302062
    Consensus CDS
    CCDS56065.1
    UniProtKB/Swiss-Prot
    Q6IA86
    Related
    ENSP00000414851.2, ENST00000442325.6
    Conserved Domains (3) summary
    COG2319
    Location:203 → 761
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:635 → 677
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54 → 481
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. NM_001242876.3 → NP_001229805.1  elongator complex protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001229805.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame coding exon, compared to variant 1, resulting in a shorter protein (isoform 3).
    Source sequence(s)
    AC023043, AC091060, AK300201
    Consensus CDS
    CCDS56066.1
    UniProtKB/Swiss-Prot
    Q6IA86
    Related
    ENSP00000316051.6, ENST00000350494.10
    Conserved Domains (3) summary
    COG2319
    Location:188 → 691
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:565 → 607
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54 → 411
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. NM_001242877.3 → NP_001229806.1  elongator complex protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks 2 in-frame coding exons, compared to variant 1, resulting in a shorter protein (isoform 4).
    Source sequence(s)
    AC023043, AC091060, AK022709
    Consensus CDS
    CCDS56067.1
    UniProtKB/Swiss-Prot
    Q6IA86
    Related
    ENSP00000257191.7, ENST00000351393.10
    Conserved Domains (3) summary
    COG2319
    Location:54 → 439
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:544 → 586
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54 → 390
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  4. NM_001242878.3 → NP_001229807.1  elongator complex protein 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several alternate coding exons resulting in a shorter protein (isoform 5).
    Source sequence(s)
    AC023043, AC091060, AF332505
    Consensus CDS
    CCDS56068.1
    UniProtKB/Swiss-Prot
    Q6IA86
    Related
    ENSP00000443800.1, ENST00000542824.5
    Conserved Domains (3) summary
    COG2319
    Location:54 → 626
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500 → 542
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54 → 346
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  5. NM_001242879.3 → NP_001229808.1  elongator complex protein 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks several alternate coding exons, compared to variant 1, resulting in a shorter protein (isoform 6).
    Source sequence(s)
    AC023043, AC091060, BC032553
    Consensus CDS
    CCDS56069.1
    UniProtKB/Swiss-Prot
    Q6IA86
    Related
    ENSP00000391202.2, ENST00000423854.6
    Conserved Domains (3) summary
    COG2319
    Location:167 → 626
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500 → 542
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54 → 346
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  6. NM_001324465.2 → NP_001311394.1  elongator complex protein 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060

  7. NM_001324466.2 → NP_001311395.1  elongator complex protein 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060

  8. NM_001324467.2 → NP_001311396.1  elongator complex protein 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060

  9. NM_001324468.2 → NP_001311397.1  elongator complex protein 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060
    Conserved Domains (2) summary
    sd00039
    Location:421 → 463
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:16 → 267
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  10. NM_018255.4 → NP_060725.1  elongator complex protein 2 isoform 2

    See identical proteins and their annotated locations for NP_060725.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame alternate coding exon, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC023043, AC091060, AK001741
    Consensus CDS
    CCDS11918.1
    UniProtKB/Swiss-Prot
    A8KAI6, B4DTG0, B4DXP0, E7EP23, E9PCX0, Q53GZ0, Q687Y8, Q6IA86, Q8N5C2, Q96GV4, Q96PI7, Q9H9N0, Q9NV81
    Related
    ENSP00000350967.6, ENST00000358232.11
    Conserved Domains (4) summary
    COG2319
    Location:106 → 696
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:54 → 416
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:570 → 612
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:559 → 818
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. NR_040110.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks a coding exon and represents use of an alternate splice site, compared to variant 1. These differences result in a frameshift and premature stop codon. The transcript is predicted to be subject to nonsense-mediated decay (NMD) and thus is represented as non-coding.
    Source sequence(s)
    AC023043, AC091060, AF403223

  2. NR_136897.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060

  3. NR_136898.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060

  4. NR_137173.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    36129899..36180557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437610.1 → XP_047293566.1  elongator complex protein 2 isoform X1

    Related
    ENSP00000443555.1, ENST00000539560.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    36321463..36372122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318779.1 → XP_054174754.1  elongator complex protein 2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001324469.1: Suppressed sequence

    Description
    NM_001324469.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IA86.2 GenPept UniProtKB/Swiss-Prot:Q6IA86

Gene LinkOut

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