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    Elp2 elongator acetyltransferase complex subunit 2 [ Mus musculus (house mouse) ]

    Gene ID: 58523, updated on 27-Nov-2024

    Summary

    Official Symbol
    Elp2provided by MGI
    Official Full Name
    elongator acetyltransferase complex subunit 2provided by MGI
    Primary source
    MGI:MGI:1889642
    See related
    Ensembl:ENSMUSG00000024271 AllianceGenome:MGI:1889642
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Epl2; StIP1; Statip1
    Summary
    Enables protein kinase binding activity. Acts upstream of or within regulation of receptor signaling pathway via JAK-STAT. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of elongator holoenzyme complex; proteasome complex; and transcription elongation factor complex. Is expressed in central nervous system; liver; and retina nuclear layer. Used to study autism spectrum disorder and intellectual disability. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 58. Orthologous to human ELP2 (elongator acetyltransferase complex subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 45.7), CNS E14 (RPKM 36.0) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Elp2 in Genome Data Viewer
    Location:
    18 A2; 18 13.18 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (24737018..24771887)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (24603961..24638830)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9972 Neighboring gene STARR-seq mESC enhancer starr_44068 Neighboring gene regulation of nuclear pre-mRNA domain containing 1A Neighboring gene STARR-seq mESC enhancer starr_44069 Neighboring gene STARR-seq mESC enhancer starr_44070 Neighboring gene STARR-seq mESC enhancer starr_44071 Neighboring gene STARR-positive B cell enhancer ABC_E8706 Neighboring gene solute carrier family 39 (metal ion transporter), member 6 Neighboring gene STARR-positive B cell enhancer mm9_chr18:24835661-24835962 Neighboring gene molybdenum cofactor sulfurase Neighboring gene formin homology 2 domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_44073 Neighboring gene 39S ribosomal protein L42, mitochondrial pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Gene trapped (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA polymerase II complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to RNA polymerase II complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables endopeptidase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in proteasome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tRNA wobble uridine modification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription elongation by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    part_of elongator holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of elongator holoenzyme complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of elongator holoenzyme complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of proteasome complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of transcription elongation factor complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001360909.1NP_001347838.1  elongator complex protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. It encodes isoform 2 which is shorter compared, to isoform 1.
      Source sequence(s)
      AC131713
      Conserved Domains (3) summary
      COG2319
      Location:595783
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:526568
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:54371
      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_021448.2NP_067423.2  elongator complex protein 2 isoform 1

      See identical proteins and their annotated locations for NP_067423.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK034457, AK168370
      Consensus CDS
      CCDS29103.1
      UniProtKB/Swiss-Prot
      Q3TIH5, Q3TIT0, Q8CBW6, Q91WG4, Q9ESY7
      Related
      ENSMUSP00000157109.2, ENSMUST00000234266.2
      Conserved Domains (4) summary
      COG2319
      Location:94467
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:54415
      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:559825
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      24737018..24771887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526130.3XP_006526193.1  elongator complex protein 2 isoform X1

      Conserved Domains (2) summary
      sd00039
      Location:260302
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:249515
      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 ...