MYOG myogenin [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYOGprovided by HGNC
Official Full Name: myogeninprovided by HGNC
Primary source: HGNC:HGNC:7612
See related: Ensembl:ENSG00000122180 MIM:159980; AllianceGenome:HGNC:7612
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: MYF4; myf-4; bHLHc3
Summary: Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008]
Expression: Biased expression in prostate (RPKM 2.6) and esophagus (RPKM 0.9) See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (203083129..203086012, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (202345882..202348764, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (203052257..203055140, complement)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myogenin suppresses apoptosis induced by angiotensin II in human induced pluripotent stem cell-derived cardiomyocytes.
Title: Myogenin suppresses apoptosis induced by angiotensin II in human induced pluripotent stem cell-derived cardiomyocytes.
The SMYD3 methyltransferase promotes myogenesis by activating the myogenin regulatory network.
Title: The SMYD3 methyltransferase promotes myogenesis by activating the myogenin regulatory network.
Dual-specificity phosphatase 29 is induced during neurogenic skeletal muscle atrophy and attenuates glucocorticoid receptor activity in muscle cell culture.
Title: Dual-specificity phosphatase 29 is induced during neurogenic skeletal muscle atrophy and attenuates glucocorticoid receptor activity in muscle cell culture.
CASZ1 plays a critical role in inducing skeletal myogenesis and co-operating to form a feed-forward loop with MYOD and MYOG that is critical for Embryonal rhabdomyosarcoma differentiation.
Title: CASZ1 induces skeletal muscle and rhabdomyosarcoma differentiation through a feed-forward loop with MYOD and MYOG.
PRMT1 promotes MyoD-mediated myogenin expression, for which the enzymatic activity of PRMT1 is needed. The arginine methylation of MyoD by PRMT1 enhances its DNA binding activity and transactivation.
Title: PRMT1 activates myogenin transcription via MyoD arginine methylation at R121.
Among these targets, dehydrogenase/reductase member 2 DHRS2 and MYO1B were directly regulated by miR1453p in esophageal squamous cell carcinoma (ESCC) cells by dual luciferase reporter assays. Aberrantly expressed DHRS2 and MYOIB were detected in ESCC clinical specimens, and their overexpression enhanced cancer cell aggressiveness.
Title: Molecular pathogenesis of esophageal squamous cell carcinoma: Identification of the antitumor effects of miR‑145‑3p on gene regulation.
Findings indicate a interplay between A-kinase anchoring protein 6 (AKAP6) and myogenin.
Title: AKAP6 inhibition impairs myoblast differentiation and muscle regeneration: Positive loop between AKAP6 and myogenin.
results indicate that myogenin is a positive regulator in transcriptional regulation of MEGF10 in skeletal muscle
Title: Myogenin is a positive regulator of MEGF10 expression in skeletal muscle.
Sustained GSK3beta activity represses a critical regulatory step in the myogenic cascade, contributing to the undifferentiated, proliferative phenotype in alveolar rhabdomyosarcoma.
Title: Glycogen synthase kinase 3β represses MYOGENIN function in alveolar rhabdomyosarcoma.
Our study illustrates that focal myogenin immunoreactivity occurs uncommonly in fibroepithelial polyps of the lower female genital tract.
Title: Myogenin expression in vulvovaginal spindle cell lesions: analysis of a series of cases with an emphasis on diagnostic pitfalls.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G15880 (e-PCR)
- UniSTS:24835

SHGC-11939 (e-PCR)
- UniSTS:20748

STS-X17651 (e-PCR)
- UniSTS:62224

MYOG_8492 (e-PCR)
- UniSTS:467789

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables E-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to estradiol stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lithium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in muscle cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of muscle atrophy	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myotube differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of skeletal muscle fiber development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of skeletal muscle fiber development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of myoblast fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of skeletal muscle satellite cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to denervation involved in regulation of muscle adaptation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to electrical stimulus involved in regulation of muscle adaptation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to muscle activity involved in regulation of muscle adaptation	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	TAS Traceable Author Statement more info	PubMed
involved_in striated muscle atrophy	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-DNA complex	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: myogenin

Names: class C basic helix-loop-helix protein 3; myogenic factor 4

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_002479.6 → NP_002470.2 myogenin

See identical proteins and their annotated locations for NP_002470.2

Status: VALIDATED

Source sequence(s)

AC105940, BC053899

Consensus CDS

CCDS1433.1

UniProtKB/Swiss-Prot

P15173, Q53XW6

UniProtKB/TrEMBL

Q9HCA4

Related

ENSP00000241651.4, ENST00000241651.5

Conserved Domains (2) summary

smart00520
Location:1 → 86

BASIC; Basic domain in HLH proteins of MYOD family

cd18935
Location:81 → 139

bHLH_TS_MYOG_Myf4; basic helix-loop-helix (bHLH) domain found in myogenin (MYOG) and similar proteins