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

    Gene ID: 55250, updated on 3-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
    mouse all
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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. 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
    2. ELP2 is a novel gene implicated in neurodevelopmental disabilities. Cohen JS, et al. Am J Med Genet A, 2015 Jun. PMID 25847581
    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. 4-Phenylbutyrate stimulates Hsp70 expression through the Elp2 component of elongator and STAT-3 in cystic fibrosis epithelial cells. Suaud L, et al. J Biol Chem, 2011 Dec 30. PMID 22069317, Free PMC Article

    See all (63) 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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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