Aliases for MYMK Gene

Aliases for MYMK Gene

  • Myomaker, Myoblast Fusion Factor 2 3 5
  • Transmembrane Protein 226 2 3 4
  • Transmembrane Protein 8C 2 3 4
  • Myoblast Fusion Maker 3 4
  • Protein Myomaker 3 4
  • TMEM226 3 4
  • TMEM8C 3 4
  • MYOMAKER 3

External Ids for MYMK Gene

Previous HGNC Symbols for MYMK Gene

  • TMEM8C

Summaries for MYMK Gene

GeneCards Summary for MYMK Gene

MYMK (Myomaker, Myoblast Fusion Factor) is a Protein Coding gene. Diseases associated with MYMK include Carey-Fineman-Ziter Syndrome and Muscle Hypertrophy. An important paralog of this gene is TMEM8B.

UniProtKB/Swiss-Prot Summary for MYMK Gene

  • 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 lipids (hemifusion) upstream of MYMX. Acts independently of MYMX (By similarity). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (By similarity). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satellite cells with myofibers (By similarity).

Additional gene information for MYMK Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYMK Gene

Genomics for MYMK Gene

GeneHancer (GH) Regulatory Elements for MYMK Gene

Promoters and enhancers for MYMK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J133526 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +1.1 1111 3.8 FOXA1 FOXA2 SCRT2 SCRT1 USF1 POLR2A ETS1 ZSCAN16 SIN3A RXRA MYMK SARDH ADAMTS13 DBH LOC102723855
GH09J133529 Enhancer 0.4 Ensembl dbSUPER 750.6 -1.2 -1189 0.4 NFXL1 MYMK ADAMTSL2
GH09J133505 Enhancer 1.1 ENCODE CraniofacialAtlas 11.4 +22.2 22233 2.2 FOXA1 RBPJ SMARCE1 NR2F1 NR2F6 MIXL1 RAD21 TEAD4 RERE ELF3 ADAMTSL2 MYMK FAM163B LOC102723855
GH09J133583 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 12 -56.3 -56288 3.8 GLIS2 ZIC2 POLR2A ZBTB8A ZEB2 PATZ1 SP2 ZNF561 SCRT2 ZXDB ADAMTSL2 MYMK DBH CACFD1 ADAMTS13 HSALNG0075019 FAM163B
GH09J133485 Enhancer 1 Ensembl ENCODE 11.1 +42.9 42911 2.2 CTCF CC2D1A RAD21 MNT SP7 RELA IKZF1 GLIS2 ZIC2 ARID2 RF00017-8040 CACFD1 ADAMTS13 REXO4 ENSG00000201451 ENSG00000230064 SURF6 STKLD1 SURF4 MYMK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYMK on UCSC Golden Path with GeneCards custom track

Genomic Locations for MYMK Gene

Genomic Locations for MYMK Gene
chr9:133,514,586-133,528,612
(GRCh38/hg38)
Size:
14,027 bases
Orientation:
Minus strand
chr9:136,379,708-136,393,734
(GRCh37/hg19)
Size:
14,027 bases
Orientation:
Minus strand

Genomic View for MYMK Gene

Genes around MYMK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYMK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYMK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYMK Gene

Proteins for MYMK Gene

  • Protein details for MYMK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NI61-MYMK_HUMAN
    Recommended name:
    Protein myomaker
    Protein Accession:
    A6NI61

    Protein attributes for MYMK Gene

    Size:
    221 amino acids
    Molecular mass:
    24699 Da
    Quaternary structure:
    • Interacts with MYMX.

neXtProt entry for MYMK Gene

Post-translational modifications for MYMK Gene

  • Palmitoylated at the C-terminus; palmitoylation promotes localization to the Golgi apparatus.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYMK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYMK Gene

Domains & Families for MYMK Gene

Gene Families for MYMK Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for MYMK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYMK Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 8C (TMM8C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NI61

UniProtKB/Swiss-Prot:

MYMK_HUMAN :
  • Belongs to the TMEM8 family.
Family:
  • Belongs to the TMEM8 family.
genes like me logo Genes that share domains with MYMK: view

Function for MYMK Gene

Molecular function for MYMK Gene

UniProtKB/Swiss-Prot 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 lipids (hemifusion) upstream of MYMX. Acts independently of MYMX (By similarity). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (By similarity). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satellite cells with myofibers (By similarity).

Phenotypes From GWAS Catalog for MYMK Gene

genes like me logo Genes that share phenotypes with MYMK: view

Human Phenotype Ontology for MYMK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYMK Gene

MGI Knock Outs for MYMK:
  • Mymk Mymk<tm1e(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for MYMK Gene

Localization for MYMK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYMK Gene

Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Localizes on the plasma membrane of myoblasts, where it mediates myoblasts fusion. Also localizes in the Golgi apparatus and post-Golgi following palmitoylation; the role of Golgi localization is unclear. {ECO:0000250 UniProtKB:Q9D1N4}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYMK gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
extracellular 2
cytoskeleton 1
mitochondrion 0
cytosol 0

Gene Ontology (GO) - Cellular Components for MYMK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IBA,ISS --
GO:0005887 integral component of plasma membrane ISS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MYMK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYMK Gene

Pathways & Interactions for MYMK Gene

PathCards logo

SuperPathways for MYMK Gene

No Data Available

Interacting Proteins for MYMK Gene

Gene Ontology (GO) - Biological Process for MYMK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development IEA --
GO:0007520 myoblast fusion IEA,ISS --
GO:0014905 myoblast fusion involved in skeletal muscle regeneration IEA --
GO:0043403 skeletal muscle tissue regeneration IEA --
GO:0045026 plasma membrane fusion IEA,ISS --
genes like me logo Genes that share ontologies with MYMK: view

No data available for Pathways by source and SIGNOR curated interactions for MYMK Gene

Drugs & Compounds for MYMK Gene

No Compound Related Data Available

Transcripts for MYMK Gene

mRNA/cDNA for MYMK Gene

(1) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYMK Gene

No ASD Table

Relevant External Links for MYMK Gene

GeneLoc Exon Structure for
MYMK
ECgene alternative splicing isoforms for
MYMK

Expression for MYMK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of MYMK Gene:

MYMK
genes like me logo Genes that share expression patterns with MYMK: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYMK Gene

Orthologs for MYMK Gene

This gene was present in the common ancestor of animals.

Orthologs for MYMK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM8C 33
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM8C 33
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM8C 33
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM8C 33 32
  • 89.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM8C 33 32
  • 87.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem8c 33 32
  • 86.27 (n)
OneToOne
Mymk 17
chicken
(Gallus gallus)
Aves TMEM8C 33 32
  • 82.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM8C 33
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem8c 33 32
  • 73.64 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13654 33
  • 6 (a)
OneToMany
Species where no ortholog for MYMK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYMK Gene

ENSEMBL:
Gene Tree for MYMK (if available)
TreeFam:
Gene Tree for MYMK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYMK: view image

Paralogs for MYMK Gene

Paralogs for MYMK Gene

genes like me logo Genes that share paralogs with MYMK: view

Variants for MYMK Gene

Sequence variations from dbSNP and Humsavar for MYMK Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1131692247 pathogenic, Congenital nonprogressive myopathy with Moebius and Robin sequences, Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940] 133,514,749(-) A/G coding_sequence_variant, missense_variant
rs1131692248 pathogenic, Congenital nonprogressive myopathy with Moebius and Robin sequences 133,524,843(-) A/T initiator_codon_variant, missense_variant
rs1131692249 pathogenic, Congenital nonprogressive myopathy with Moebius and Robin sequences, Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940] 133,515,546(-) A/G coding_sequence_variant, missense_variant
rs137868995 pathogenic, Congenital nonprogressive myopathy with Moebius and Robin sequences, Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940] 133,519,002(-) G/T coding_sequence_variant, missense_variant
rs964335184 pathogenic, Congenital nonprogressive myopathy with Moebius and Robin sequences, Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940] 133,518,975(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MYMK Gene

Variant ID Type Subtype PubMed ID
esv2171055 CNV deletion 18987734
esv2739138 CNV deletion 23290073
esv6067 CNV loss 19470904
nsv1125319 OTHER inversion 24896259
nsv951799 CNV deletion 24416366

Variation tolerance for MYMK Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYMK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYMK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYMK Gene

Disorders for MYMK Gene

MalaCards: The human disease database

(2) MalaCards diseases for MYMK Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carey-fineman-ziter syndrome
  • cfzs
muscle hypertrophy
  • mslhp
- elite association - COSMIC cancer census association via MalaCards
Search MYMK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYMK_HUMAN
  • Carey-Fineman-Ziter syndrome (CFZS) [MIM:254940]: An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high-arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive. {ECO:0000269 PubMed:28681861, ECO:0000269 PubMed:30065953}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYMK

genes like me logo Genes that share disorders with MYMK: view

No data available for Genatlas for MYMK Gene

Publications for MYMK Gene

  1. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. (PMID: 28681861) Di Gioia SA … Engle EC (Nature communications 2017) 3 4 56
  2. Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. (PMID: 30065953) Hedberg-Oldfors C … Oldfors A (Neurology. Genetics 2018) 4 56
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 56

Products for MYMK Gene

Sources for MYMK Gene