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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
  • TMEM226 3 4
  • TMEM8C 3 4
  • Protein Myomaker 3
  • 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. An important paralog of this gene is TMEM8B.

UniProtKB/Swiss-Prot for MYMK Gene

  • Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Actively participates in the membrane fusion reaction (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 , fRNAdb sequence ontologies and piRNA Summary for MYMK Gene

Genomics for MYMK Gene

Regulatory Elements for MYMK Gene

Enhancers for MYMK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H133505 1.3 Ensembl ENCODE 11.4 +22.1 22148 2 FOXA2 ARID4B DMAP1 YY1 TCF12 ZNF766 FOS MXD4 REST MIER2 ADAMTSL2 MYMK FAM163B LOC102723855
GH09H133485 1.2 Ensembl ENCODE 11.1 +42.2 42178 1.1 RB1 ARID4B SIN3A ZNF2 RAD21 ZEB1 ZNF143 RCOR1 ATF7 CREM CACFD1 ADAMTS13 REXO4 ENSG00000230064 ENSG00000201451 SURF6 SURF4 STKLD1 MYMK ADAMTSL2
GH09H133557 1.1 Ensembl ENCODE 11.9 -30.0 -30018 2.5 INSM2 KLF17 EGR1 FOS RUNX3 IKZF2 HDAC8 MEF2D ZFP69B ZNF589 ENSG00000273249 TSC1 ADAMTSL2 MYMK FAM163B DBH GTF3C5 BRD3 DDX31
GH09H133583 0.8 ENCODE 12 -56.5 -56510 2.7 RING1 KLF1 ZIC2 ZFHX2 GLIS2 POLR2A PATZ1 SCRT2 ZNF600 RCOR1 ENSG00000273249 TSC1 ADAMTSL2 MYMK DBH GTF3C5 CACFD1 ADAMTS13 BRD3 DDX31
GH09H133743 0.9 ENCODE 10.6 -214.7 -214742 0.2 ELF3 PKNOX1 RB1 ARID4B THRB ZSCAN9 RAD21 RARA RFX5 SLC30A9 DBH ADAMTSL2 MYMK SARDH PIR52009
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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)

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-TMM8C_HUMAN
    Recommended name:
    Protein myomaker
    Protein Accession:
    A6NI61

    Protein attributes for MYMK Gene

    Size:
    221 amino acids
    Molecular mass:
    24699 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MYMK Gene

Post-translational modifications for MYMK Gene

  • 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

Protein Domains for MYMK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYMK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NI61

UniProtKB/Swiss-Prot:

TMM8C_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. Actively participates in the membrane fusion reaction (By similarity).
genes like me logo Genes that share phenotypes with MYMK: view

Animal Models for MYMK Gene

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

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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. Note=Localizes on the cell surface of myoblasts during fusion and is down-regulated thereafter. {ECO:0000250}.

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
extracellular 3
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MYMK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
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

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 ISS,IEA --
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 where relevant :

Inhibitory RNA 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

Primer Products

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 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM8C 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM8C 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM8C 34 33
  • 89.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM8C 34 33
  • 87.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem8c 34 33
  • 86.27 (n)
OneToOne
Mymk 16
chicken
(Gallus gallus)
Aves TMEM8C 34 33
  • 82.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM8C 34
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem8c 34 33
  • 73.64 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13654 34
  • 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)

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 Sequence Context AA Info Type
rs1000010646 -- 133,522,872(+) TGATG(C/G)TCACA intron-variant
rs1000130584 -- 133,517,858(+) CCCCA(C/T)AGCCG intron-variant
rs1000327716 -- 133,520,025(+) CACAA(A/C)CCTGA intron-variant
rs1000436247 -- 133,525,221(+) TGGGA(A/T)GACAG upstream-variant-2KB
rs1000481285 -- 133,517,580(+) AGAAT(C/T)GCTTC intron-variant

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

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

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)

Relevant External Links 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

(1) MalaCards diseases for MYMK Gene - From: OMIM, ClinVar, and Orphanet

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

Relevant External Links for MYMK

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYMK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYMK
genes like me logo Genes that share disorders with MYMK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYMK Gene

Publications for MYMK Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 60
  2. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. (PMID: 28681861) Di Gioia SA … Engle EC (Nature communications 2017) 3

Products for MYMK Gene

Sources for MYMK Gene

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