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

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: human all
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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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Elp2 role in the development of the ureter obstruction induced renal fibrosis.Elp2 regulates Stat3 and TGF-beta1 and NF-kappa B pathways in the renal fibrosis.
Title: Suppression of Elp2 prevents renal fibrosis and inflammation induced by unilateral ureter obstruction (UUO) via inactivating Stat3-regulated TGF-β1 and NF-κB pathways.
Targeting ELP2 activity as a novel therapeutic option to limit the inhibition of osteoblast differentiation by inflammatory microenvironment.
Title: Quantitative proteomics reveals ELP2 as a regulator to the inhibitory effect of TNF-α on osteoblast differentiation.
US28 induces proliferation in HCMV-infected tumors by establishing a positive feedback loop through activation of the IL-6-STAT3 signaling axis.
Title: HCMV-encoded chemokine receptor US28 mediates proliferative signaling through the IL-6-STAT3 axis.
Data show that HMGA1a binding activity in nuclear fractions from murine retina, but not from hippocampus, resulted in STAT3 interacting protein 1 (StIP1) that formed a novel complex with HMGA1a, STAT3 and homeodomain-interacting protein kinase 2 (HIPK2).
Title: Novel interaction between HMGA1a and StIP1 in murine terminally differentiated retina.
STAT3 interacts with STRA13 and modulates transcription of STAT3-dependent targets.
Title: STRA13 interacts with STAT3 and modulates transcription of STAT3-dependent targets.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU023723 (e-PCR)
- UniSTS:164632

NoName (e-PCR)
- UniSTS:237756

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within regulation of receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within tRNA processing	IEA Inferred from Electronic Annotation more info
involved_in tRNA wobble uridine modification	IEA Inferred from Electronic Annotation more info

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

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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)

NM_001360909.1 → NP_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:595 → 783

WD40; WD40 repeat [General function prediction only]

sd00039
Location:526 → 568

7WD40; WD40 repeat [structural motif]

cl25539
Location:54 → 371

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 ...
NM_021448.2 → NP_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:94 → 467

WD40; WD40 repeat [General function prediction only]

cd00200
Location:54 → 415

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 → 825

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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

24737018..24771887

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (2) summary

sd00039
Location:260 → 302

7WD40; WD40 repeat [structural motif]

cl29593
Location:249 → 515

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 ...