MYMK (myomaker, myoblast fusion factor)

Gene

• Entrez ID: 389827
• Gene name: Myomaker, myoblast fusion factor
• Gene symbol: MYMK
• Synonyms (NCBI Gene): MYOMAKER, TMEM226, TMEM8C
• Chromosome: 9
• Chromosome location: 9q34.2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137868995	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs964335184	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131692247	A>G	Pathogenic	Coding sequence variant, missense variant
rs1131692248	A>T	Pathogenic	Initiator codon variant, missense variant
rs1131692249	A>G	Pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	28681861
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007517	Process	Muscle organ development	IEA
GO:0007520	Process	Myoblast fusion	IDA	28681861
GO:0007520	Process	Myoblast fusion	IEA
GO:0007520	Process	Myoblast fusion	ISS
GO:0014905	Process	Myoblast fusion involved in skeletal muscle regeneration	IEA
GO:0016020	Component	Membrane	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0045026	Process	Plasma membrane fusion	IEA
GO:0045026	Process	Plasma membrane fusion	ISS
GO:1904206	Process	Positive regulation of skeletal muscle hypertrophy	IEA
GO:1904206	Process	Positive regulation of skeletal muscle hypertrophy	ISS

Other IDs

• MIM: 615345
• HGNC: 33778
• e!Ensembl: ENSG00000187616

Protein

• UniProt ID: A6NI61
• Protein name: Protein myomaker (Myoblast fusion maker) (Transmembrane protein 226) (Transmembrane protein 8C)
• Protein function: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28681861). Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipid
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12036	DUF3522	3 → 185	Protein of unknown function (DUF3522)	Family

• Sequence:

  MGTLVAKLLLPTLSSLAFLPTVSIAAKRRFHMEAMVYLFTLFFVALHHACNGPGLSVLCF
  MRHDILEYFSVYGTALSMWVSLMALADFDEPKRSTFVMFGVLTIAVRIYHDRWGYGVYSG
  PIGTAILIIAAKWLQKMKEKKGLYPDKSVYTQQIGPGLCFGALALMLRFFFEDWDYTYVH
  SFYHCALAMSFVLLLPKVNKKAGSPGTPAKLDCSTLCCACV

• Sequence length: 221

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Carey-Fineman-Ziter syndrome 1	Likely pathogenic; Pathogenic	rs137868995	RCV003147484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital nonprogressive myopathy with Moebius and Robin sequences	Likely pathogenic; Pathogenic	rs137868995, rs1131692247, rs964335184, rs1131692248, rs1131692249, rs1432065625	RCV000495954 RCV000495947 RCV000495951 RCV000495944 RCV000495946 RCV001089958	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYMK-related disorder	Likely pathogenic; Pathogenic	rs137868995	RCV003424047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAREY-FINEMAN-ZITER SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR SALIVARY GLAND CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR SALIVARY GLAND CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carey-Fineman-Ziter syndrome	Carey Fineman Ziter Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	28681861		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias, balanic	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngostenosis	Laryngostenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, congenital nonprogressive with Moebius and Robin sequences	Carey Fineman Ziter syndrome	BEFREE	28681861, 30016436		★☆☆☆☆ Found in Text Mining only
Myopathy, congenital nonprogressive with Moebius and Robin sequences	Carey Fineman Ziter syndrome	CLINVAR_DG	28681861		★☆☆☆☆ Found in Text Mining only
Myopathy, congenital nonprogressive with Moebius and Robin sequences	Carey Fineman Ziter syndrome	GENOMICS_ENGLAND_DG	28681861		★☆☆☆☆ Found in Text Mining only
Myopathy, congenital nonprogressive with Moebius and Robin sequences	Carey Fineman Ziter syndrome	ORPHANET_DG	28681861		★☆☆☆☆ Found in Text Mining only
Myopathy, congenital nonprogressive with Moebius and Robin sequences	Carey Fineman Ziter syndrome	UNIPROT_DG	28681861, 30065953		★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	HPO_DG			★☆☆☆☆ Found in Text Mining only