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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
  • Myomaker 2 3
  • TMEM226 3 4
  • Protein 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. Diseases associated with TMEM8C include Skeletal Muscle Regeneration. 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

Regulatory Elements for TMEM8C Gene

Enhancers for TMEM8C 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
GH09F133505 1.3 Ensembl ENCODE 11.4 +22.2 22173 2.1 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 FOS SP5 MXD4 ADAMTSL2 TMEM8C FAM163B LOC102723855
GH09F133485 1.2 Ensembl ENCODE 11.1 +42.2 42225 1.2 WRNIP1 ARID4B ZNF48 ZNF2 RAD21 ZEB1 ZNF143 CREM DEK EGR2 CACFD1 ADAMTS13 REXO4 ENSG00000201451 ENSG00000230064 SURF6 SURF4 STKLD1 TMEM8C ADAMTSL2
GH09F133583 1.1 Ensembl ENCODE 12 -56.5 -56510 2.7 RING1 ZIC2 RAD21 ZFHX2 GLIS2 POLR2A PATZ1 SCRT2 ZNF600 EGR2 ENSG00000273249 TSC1 ADAMTSL2 TMEM8C DBH CACFD1 ADAMTS13 FAM163B
GH09F133557 1.1 Ensembl ENCODE 11.9 -30.0 -30018 2.5 INSM2 SIN3A KLF17 FOS JUNB MEF2D ZFP69B SMARCA4 IKZF1 ZNF341 ENSG00000273249 TSC1 ADAMTSL2 TMEM8C FAM163B DBH
GH09F133619 1 Ensembl ENCODE 11.2 -91.5 -91489 0.6 CTCF ZFP64 SIN3A ZNF2 RAD21 YY1 ZNF143 SMC3 PRDM10 CREM ADAMTSL2 DBH-AS1 TMEM8C SARDH FAM163B ENSG00000261018
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM8C on UCSC Golden Path with GeneCards custom track

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

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

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

Inhibitory RNA Products

Flow Cytometry 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
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 TMEM8C gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TMEM8C 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 TMEM8C: view

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:0007517 muscle organ development IEA --
GO:0007520 myoblast fusion ISS --
GO:0014905 myoblast fusion involved in skeletal muscle regeneration IEA --
GO:0043403 skeletal muscle tissue regeneration IEA --
GO:0045026 plasma membrane fusion 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

Transcripts for TMEM8C Gene

mRNA/cDNA for TMEM8C Gene

(1) 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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for TMEM8C Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM8C Gene:

TMEM8C

SOURCE GeneReport for Unigene cluster for TMEM8C Gene:

Hs.512467
genes like me logo Genes that share expression patterns with TMEM8C: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TMEM8C 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM8C 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM8C 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM8C 34 35
  • 89.89 (n)
cow
(Bos Taurus)
Mammalia TMEM8C 34 35
  • 87.93 (n)
mouse
(Mus musculus)
Mammalia Tmem8c 34 16 35
  • 86.27 (n)
chicken
(Gallus gallus)
Aves TMEM8C 34 35
  • 82.42 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM8C 35
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem8c 34 35
  • 73.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13654 35
  • 6 (a)
OneToMany
Species where no ortholog for TMEM8C 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 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
rs10114833 -- 133,520,647(+) GGGAC(C/T)CTACA intron-variant
rs111267825 -- 133,522,346(+) GTCGG(A/C/G/T)GGGGG intron-variant
rs111465072 -- 133,519,812(+) TATGA(C/T)AGTCT intron-variant
rs111786441 -- 133,514,678(+) TTGGC(C/T)GGGGT reference, synonymous-codon
rs111884841 -- 133,515,654(+) CACTG(C/G/T)GGAAC intron-variant

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

Human Gene Mutation Database (HGMD)
TMEM8C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM8C

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

Disorders for TMEM8C Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM8C Gene - From: GeneCards

Disorder Aliases PubMed IDs
skeletal muscle regeneration
  • nonaka myopathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM8C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM8C
genes like me logo Genes that share disorders with TMEM8C: view

No data available for 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 64

Products for TMEM8C Gene

Sources for TMEM8C Gene

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