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

Gene ID: 58523, updated on 5-Mar-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 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 non-syndromic intellectual disability. Orthologous to human ELP2 (elongator acetyltransferase complex subunit 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 45.7), CNS E14 (RPKM 36.0) and 25 other tissues See more
Orthologs
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Genomic context

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)
  • Gene trapped (1) 
  • Endonuclease-mediated (3)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to RNA polymerase II complex binding ISO
Inferred from Sequence Orthology
more info
 
enables protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm 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
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
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)

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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.

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 ...