MYEF2 myelin expression factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYEF2provided by HGNC
Official Full Name: myelin expression factor 2provided by HGNC
Primary source: HGNC:HGNC:17940
See related: Ensembl:ENSG00000104177 MIM:619395; AllianceGenome:HGNC:17940
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MEF-2; MST156; myEF-2; MSTP156; HsT18564
Summary: Enables RNA binding activity. Involved in myotube differentiation and neuron differentiation. Located in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in brain (RPKM 7.4), testis (RPKM 5.4) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (48134632..48178295, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (45942725..45986393, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (48426829..48470492, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression and function of myelin expression factor 2 in hepatocellular carcinoma.
Title: Expression and function of myelin expression factor 2 in hepatocellular carcinoma.
This study demonstrated that none of the associations between time-frequency phenotypes and MYEF2 were significant.
Title: What can time-frequency and phase coherence measures tell us about the genetic basis of P3 amplitude?
both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians
Title: Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation.
RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing
Title: RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of myelin expression factor 2 (MYEF2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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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

MYEF2_1816 (e-PCR)
- UniSTS:277518

WI-22694 (e-PCR)
- UniSTS:62498

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-79861 (e-PCR)
- UniSTS:101435

D10S16 (e-PCR)
- UniSTS:155756

RH68492 (e-PCR)
- UniSTS:82557

RH45837 (e-PCR)
- UniSTS:30863

SHGC-132846 (e-PCR)
- UniSTS:170924

STS-N31726 (e-PCR)
- UniSTS:47311

SHGC-53423 (e-PCR)
- UniSTS:77523

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in myotube differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in neuron differentiation	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myelin expression factor 2

Names: myelin gene expression factor 2

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_001301210.2 → NP_001288139.2 myelin expression factor 2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

AC066612, AC090526, KF456039

Consensus CDS

CCDS73722.1

UniProtKB/Swiss-Prot

A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5

UniProtKB/TrEMBL

A0A0A0MQW0

Related

ENSP00000267836.6, ENST00000267836.10

Conserved Domains (4) summary

TIGR01628
Location:124 → 572

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

cd12386
Location:235 → 308

RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins

cd12658
Location:101 → 176

RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)

cd12662
Location:500 → 576

RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)
NM_016132.5 → NP_057216.3 myelin expression factor 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AC066612, AC090526, KF456039

Consensus CDS

CCDS32230.1

UniProtKB/Swiss-Prot

A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5

UniProtKB/TrEMBL

A0A0A0MR39

Related

ENSP00000316950.7, ENST00000324324.12

Conserved Domains (4) summary

cd12386
Location:235 → 308

RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins

cd12658
Location:101 → 176

RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)

cd12662
Location:524 → 600

RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)

cl25887
Location:124 → 596

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

RNA

NR_125408.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' region, and also lacks several 3' exons but includes an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC066612, AC090526

Related

ENST00000561351.5

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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

48134632..48178295 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022287.2 → XP_016877776.1 myelin expression factor 2 isoform X6

UniProtKB/Swiss-Prot

A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5
XM_005254424.5 → XP_005254481.2 myelin expression factor 2 isoform X2

UniProtKB/Swiss-Prot

A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5

Conserved Domains (4) summary

TIGR01628
Location:124 → 555

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

cd12386
Location:235 → 308

RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins

cd12658
Location:101 → 176

RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)

cd12662
Location:483 → 559

RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)
XM_017022285.2 → XP_016877774.1 myelin expression factor 2 isoform X4

UniProtKB/Swiss-Prot

A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5
XM_005254422.5 → XP_005254479.2 myelin expression factor 2 isoform X1

UniProtKB/Swiss-Prot

A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5

Conserved Domains (4) summary

TIGR01628
Location:124 → 579

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

cd12386
Location:235 → 308

RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins

cd12658
Location:101 → 176

RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)

cd12662
Location:507 → 583

RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)
XM_017022286.2 → XP_016877775.1 myelin expression factor 2 isoform X5

UniProtKB/Swiss-Prot

A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5
XM_005254425.5 → XP_005254482.2 myelin expression factor 2 isoform X3

UniProtKB/Swiss-Prot

A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5

Conserved Domains (2) summary

cd12386
Location:235 → 308

RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins

cd12658
Location:101 → 176

RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)
XM_047432635.1 → XP_047288591.1 myelin expression factor 2 isoform X7
XM_047432636.1 → XP_047288592.1 myelin expression factor 2 isoform X9
XM_011521657.3 → XP_011519959.1 myelin expression factor 2 isoform X8

Conserved Domains (3) summary

COG0724
Location:334 → 436

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12386
Location:71 → 144

RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins

cd12662
Location:360 → 436

RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)
XM_005254427.5 → XP_005254484.1 myelin expression factor 2 isoform X10

Conserved Domains (2) summary

cd12386
Location:235 → 308

RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins

cd12658
Location:101 → 176

RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)