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MYF5 myogenic factor 5 [ Homo sapiens (human) ]

Gene ID: 4617, updated on 23-Nov-2021

Summary

Official Symbol
MYF5provided by HGNC
Official Full Name
myogenic factor 5provided by HGNC
Primary source
HGNC:HGNC:7565
See related
Ensembl:ENSG00000111049 MIM:159990
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
EORVA; bHLHc2
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See MYF5 in Genome Data Viewer
Location:
12q21.31
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (80716912..80719671)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (81110691..81113450)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369867 Neighboring gene Sharpr-MPRA regulatory region 776 Neighboring gene myogenic factor 6 Neighboring gene long intergenic non-protein coding RNA 1490 Neighboring gene lin-7 homolog A, crumbs cell polarity complex component Neighboring gene microRNA 617

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
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle organ development TAS
Traceable Author Statement
more info
PubMed 
involved_in muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in ossification IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of myoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of skeletal muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in skeletal muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in skeletal muscle tissue development TAS
Traceable Author Statement
more info
PubMed 
involved_in somitogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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
 

General protein information

Preferred Names
myogenic factor 5
Names
class C basic helix-loop-helix protein 2
myf-5

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_005593.3NP_005584.2  myogenic factor 5

    See identical proteins and their annotated locations for NP_005584.2

    Status: VALIDATED

    Source sequence(s)
    AC025568, BC069373, BP231293, BX089431, X14894
    Consensus CDS
    CCDS9020.1
    UniProtKB/Swiss-Prot
    P13349
    Related
    ENSP00000228644.3, ENST00000228644.4
    Conserved Domains (3) summary
    smart00520
    Location:188
    BASIC; Basic domain in HLH proteins of MYOD family
    pfam00010
    Location:84135
    HLH; Helix-loop-helix DNA-binding domain
    pfam12232
    Location:143214
    Myf5; Myogenic determination factor 5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    80716912..80719671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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