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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	389827
Gene name Gene Name - the full gene name approved by the HGNC.	Myomaker, myoblast fusion factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYMK
Synonyms (NCBI Gene) Gene synonyms aliases	MYOMAKER, TMEM226, TMEM8C
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.2

Show/Hide all(5)

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

Show/Hide all(17)

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

MIM	HGNC	e!Ensembl
615345	33778	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

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Carey Fineman Ziter Syndrome	Carey-Fineman-Ziter syndrome 1	N/A	N/A	GenCC

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Fused Kidney	Associate	32717927

MYMK (myomaker, myoblast fusion factor)