Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	101929726
Gene name	Myomixer, myoblast fusion factor
Gene symbol	MYMX
Synonyms (NCBI Gene)	CFZS2MINIONhMINION
Chromosome	6
Chromosome location	6p21.1

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007517	Process	Muscle organ development	IEA
GO:0007520	Process	Myoblast fusion	IBA
GO:0007520	Process	Myoblast fusion	IEA
GO:0007520	Process	Myoblast fusion	IGI	28569745
GO:0007520	Process	Myoblast fusion	ISS
GO:0014905	Process	Myoblast fusion involved in skeletal muscle regeneration	IEA
GO:0014905	Process	Myoblast fusion involved in skeletal muscle regeneration	IMP	35642635
GO:0014905	Process	Myoblast fusion involved in skeletal muscle regeneration	ISS
GO:0016020	Component	Membrane	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	ISS
GO:0045026	Process	Plasma membrane fusion	IBA
GO:0045026	Process	Plasma membrane fusion	IEA
GO:0045026	Process	Plasma membrane fusion	ISS
GO:0060538	Process	Skeletal muscle organ development	IBA
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0060538	Process	Skeletal muscle organ development	ISS

MIM	HGNC	e!Ensembl
619912	52391	ENSG00000262179

A0A1B0GTQ4

Protein name

Protein myomixer (Microprotein inducer of fusion) (Protein minion) (hMINION)

Protein function

Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28569745, PubMed:35642635). Involved in membrane fusion downstream of the lipid mixing step mediated by MYMK (B

Family and domains

Sequence

MPTPLLPLLLRLLLSCLLLPAARLARQYLLPLLRRLARRLGSQDMREALLGCLLFILSQR
HSPDAGEASRVDRLERRERLGPQK

Sequence length

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carey-Fineman-Ziter syndrome 2	Pathogenic	rs1370240821	RCV002260936	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CAREY-FINEMAN-ZITER SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Fused Kidney	Associate	32717927	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Associate	29851527	★★★★★ ★☆☆☆☆ Found in Text Mining only

MYMX (myomixer, myoblast fusion factor)