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

Gene ID: 55250, updated on 3-Jun-2018
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; Vega:OTTHUMG00000132589
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
See ELP2 in Genome Data Viewer
Location:
18q12.2
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (36129874..36177931)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33709837..33754688)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene regulation of nuclear pre-mRNA domain containing 1A Neighboring gene solute carrier family 39 member 6 Neighboring gene uncharacterized LOC101927809 Neighboring gene molybdenum cofactor sulfurase Neighboring gene RNA, U4 small nuclear 3, pseudogene

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ10879

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to RNA polymerase II core binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of JAK-STAT cascade IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
tRNA wobble uridine modification IEA
Inferred from Electronic Annotation
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Elongator holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Elongator holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription elongation factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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_050745.1 RefSeqGene

    Range
    5001..53049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242875.2NP_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, OTTHUMP00000237085, ENST00000442325.6, OTTHUMT00000396661
    Conserved Domains (3) summary
    COG2319
    Location:203761
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:635677
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54481
    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_001242876.2NP_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, OTTHUMP00000237089, ENST00000350494.10, OTTHUMT00000396667
    Conserved Domains (3) summary
    COG2319
    Location:188691
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:565607
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54411
    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_001242877.2NP_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, OTTHUMP00000237083, ENST00000351393.10, OTTHUMT00000396658
    Conserved Domains (3) summary
    COG2319
    Location:54439
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:544586
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54390
    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_001242878.2NP_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, OTTHUMP00000237090, ENST00000542824.5, OTTHUMT00000396668
    Conserved Domains (3) summary
    COG2319
    Location:54626
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500542
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54346
    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_001242879.2NP_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, OTTHUMP00000237086, ENST00000423854.6, OTTHUMT00000396662
    Conserved Domains (3) summary
    COG2319
    Location:167626
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500542
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:54346
    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_001324465.1NP_001311394.1  elongator complex protein 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060
  7. NM_001324466.1NP_001311395.1  elongator complex protein 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060
  8. NM_001324467.1NP_001311396.1  elongator complex protein 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060
  9. NM_001324468.1NP_001311397.1  elongator complex protein 2 isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060
  10. NM_018255.3NP_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
    Q6IA86
    Related
    ENSP00000350967.6, OTTHUMP00000163412, ENST00000358232.10, OTTHUMT00000255800
    Conserved Domains (4) summary
    COG2319
    Location:106696
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:54416
    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:570612
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:559818
    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_040110.2 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
    Related
    OTTHUMT00000396663
  2. NR_136897.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060
  3. NR_136898.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060
  4. NR_137173.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023043, AC091060

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    36129874..36177931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_430081.2 RNA Sequence

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.
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