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Aliases for TMEM8C Gene

Aliases for TMEM8C Gene

  • Transmembrane Protein 8C 2 3 4 5
  • Transmembrane Protein 226 2 3 4
  • TMEM226 3 4
  • MYOMAKER 3

External Ids for TMEM8C Gene

Previous GeneCards Identifiers for TMEM8C Gene

  • GC09M135372
  • GC09M136379
  • GC09M105880

Summaries for TMEM8C Gene

GeneCards Summary for TMEM8C Gene

TMEM8C (Transmembrane Protein 8C) is a Protein Coding gene. An important paralog of this gene is TMEM8B.

UniProtKB/Swiss-Prot for TMEM8C 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM8C Gene

Genomics for TMEM8C Gene

Genomic Location for TMEM8C Gene

Chromosome:
9
Start:
133,514,586 bp from pter
End:
133,528,612 bp from pter
Size:
14,027 bases
Orientation:
Minus strand

Genomic View for TMEM8C Gene

Genes around TMEM8C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM8C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM8C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM8C Gene

No data available for Regulatory Elements for TMEM8C Gene

Proteins for TMEM8C Gene

  • Protein details for TMEM8C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NI61-TMM8C_HUMAN
    Recommended name:
    Protein myomaker
    Protein Accession:
    A6NI61

    Protein attributes for TMEM8C Gene

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

neXtProt entry for TMEM8C Gene

Proteomics data for TMEM8C Gene at MOPED

Post-translational modifications for TMEM8C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM8C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM8C Gene

Domains & Families for TMEM8C Gene

Protein Domains for TMEM8C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM8C 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 TMEM8C: view

No data available for Gene Families for TMEM8C Gene

Function for TMEM8C Gene

Molecular function for TMEM8C 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 TMEM8C: view

Animal Models for TMEM8C Gene

MGI Knock Outs for TMEM8C:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM8C Gene

Localization for TMEM8C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM8C 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
Jensen Localization Image for TMEM8C Gene COMPARTMENTS Subcellular localization image for TMEM8C gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytosol 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for TMEM8C Gene

Pathways & Interactions for TMEM8C Gene

SuperPathways for TMEM8C Gene

No Data Available

Interacting Proteins for TMEM8C Gene

Gene Ontology (GO) - Biological Process for TMEM8C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007520 myoblast fusion IEA,ISS --
genes like me logo Genes that share ontologies with TMEM8C: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM8C Gene

Drugs & Compounds for TMEM8C Gene

No Compound Related Data Available

Transcripts for TMEM8C Gene

mRNA/cDNA for TMEM8C Gene

(2) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM8C Gene

Transmembrane protein 8C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM8C Gene

No ASD Table

Relevant External Links for TMEM8C Gene

GeneLoc Exon Structure for
TMEM8C
ECgene alternative splicing isoforms for
TMEM8C

Expression for TMEM8C Gene

mRNA expression in normal human tissues for TMEM8C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM8C Gene

This gene is overexpressed in Nerve - Tibial (x10.7) and Muscle - Skeletal (x7.7).

Protein differential expression in normal tissues from HIPED for TMEM8C Gene

This gene is overexpressed in Pancreatic juice (45.7) and Monocytes (23.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM8C Gene



SOURCE GeneReport for Unigene cluster for TMEM8C Gene Hs.512467

genes like me logo Genes that share expression patterns with TMEM8C: view

Protein tissue co-expression partners for TMEM8C Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TMEM8C Gene

Orthologs for TMEM8C Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM8C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMEM8C 35
  • 87.93 (n)
  • 91.4 (a)
TMEM8C 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM8C 35
  • 89.89 (n)
  • 95.48 (a)
TMEM8C 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem8c 35
  • 86.27 (n)
  • 88.69 (a)
Tmem8c 16
Tmem8c 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM8C 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM8C 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMEM8C 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM8C 35
  • 82.42 (n)
  • 86.82 (a)
TMEM8C 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM8C 36
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem8c 35
  • 73.64 (n)
  • 75.45 (a)
tmem8c 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13654 36
  • 6 (a)
OneToMany
Species with no ortholog for TMEM8C:
  • 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 TMEM8C Gene

ENSEMBL:
Gene Tree for TMEM8C (if available)
TreeFam:
Gene Tree for TMEM8C (if available)

Paralogs for TMEM8C Gene

Paralogs for TMEM8C Gene

(2) SIMAP similar genes for TMEM8C Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TMEM8C: view

Variants for TMEM8C Gene

Sequence variations from dbSNP and Humsavar for TMEM8C Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs954052 -- 133,516,910(+) GAGGG(A/C/G/T)GGATT intron-variant
rs2073871 -- 133,524,268(+) TCCCT(A/G)AACCC intron-variant
rs2073872 -- 133,524,994(+) GCCCT(A/G/T)GACGG intron-variant, upstream-variant-2KB
rs9802272 -- 133,520,315(+) GTCAC(A/G/T)GCACA intron-variant
rs9802273 -- 133,520,331(+) GCCAG(A/G)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM8C Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
dgv8325n71 CNV Loss 21882294
nsv894081 CNV Loss 21882294
dgv8328n71 CNV Loss 21882294
nsv894086 CNV Gain 21882294
nsv894094 CNV Loss 21882294
nsv894097 CNV Loss 21882294
dgv8330n71 CNV Loss 21882294
nsv894100 CNV Gain 21882294
nsv894101 CNV Loss 21882294
esv2171055 CNV Deletion 18987734
nsv894102 CNV Loss 21882294

Variation tolerance for TMEM8C 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 TMEM8C Gene

HapMap Linkage Disequilibrium report
TMEM8C
Human Gene Mutation Database (HGMD)
TMEM8C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM8C Gene

Disorders for TMEM8C Gene

Relevant External Links for TMEM8C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM8C

No disorders were found for TMEM8C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM8C Gene

Publications for TMEM8C Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4 67

Products for TMEM8C Gene

Sources for TMEM8C Gene

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