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MYF6 myogenic factor 6 [ Homo sapiens (human) ]

Gene ID: 4618, updated on 21-Dec-2019

Summary

Official Symbol
MYF6provided by HGNC
Official Full Name
myogenic factor 6provided by HGNC
Primary source
HGNC:HGNC:7566
See related
Ensembl:ENSG00000111046 MIM:159991
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNM3; MRF4; myf-6; bHLHc4
Summary
The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
Expression
Biased expression in prostate (RPKM 5.4) and esophagus (RPKM 2.8) See more
Orthologs

Genomic context

See MYF6 in Genome Data Viewer
Location:
12q21.31
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (80707634..80709474)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (81101408..81103257)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene otogelin like Neighboring gene RN7SK pseudogene 261 Neighboring gene protein tyrosine phosphatase receptor type Q Neighboring gene uncharacterized LOC105369867 Neighboring gene akirin 1 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 1490 Neighboring gene myogenic factor 5

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
muscle cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
positive regulation of muscle cell differentiation TAS
Traceable Author Statement
more info
 
positive regulation of myoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of myoblast fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of skeletal muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
skeletal muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle tissue development TAS
Traceable Author Statement
more info
PubMed 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
myogenic factor 6
Names
class C basic helix-loop-helix protein 4
muscle-specific regulatory factor 4
myogenic factor 6 (herculin)

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_021392.1 RefSeqGene

    Range
    5006..6846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002469.3NP_002460.1  myogenic factor 6

    See identical proteins and their annotated locations for NP_002460.1

    Status: REVIEWED

    Source sequence(s)
    AA176491, BC017834, DA899591
    Consensus CDS
    CCDS9019.1
    UniProtKB/Swiss-Prot
    P23409
    Related
    ENSP00000228641.3, ENST00000228641.4
    Conserved Domains (2) summary
    pfam00010
    Location:94145
    HLH; Helix-loop-helix DNA-binding domain
    cl11603
    Location:398
    Basic; Myogenic Basic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    80707634..80709474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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