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Aliases for TMC8 Gene

Aliases for TMC8 Gene

  • Transmembrane Channel Like 8 2 3 5
  • Epidermodysplasia Verruciformis Protein 2 3 4
  • Epidermodysplasia Verruciformis 2 2 3
  • EVER2 3 4
  • EVIN2 3 4
  • Transmembrane Channel-Like Protein 8 3
  • EV2 3

External Ids for TMC8 Gene

Previous HGNC Symbols for TMC8 Gene

  • EVER2

Previous GeneCards Identifiers for TMC8 Gene

  • GC17P073639
  • GC17P076126
  • GC17P071551

Summaries for TMC8 Gene

Entrez Gene Summary for TMC8 Gene

  • Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]

GeneCards Summary for TMC8 Gene

TMC8 (Transmembrane Channel Like 8) is a Protein Coding gene. Diseases associated with TMC8 include Epidermodysplasia Verruciformis and Superficial Mycosis. GO annotations related to this gene include receptor binding. An important paralog of this gene is TMC4.

UniProtKB/Swiss-Prot for TMC8 Gene

  • Probable ion channel.

Gene Wiki entry for TMC8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMC8 Gene

Genomics for TMC8 Gene

Regulatory Elements for TMC8 Gene

Enhancers for TMC8 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
GH17G078120 2 FANTOM5 Ensembl ENCODE dbSUPER 16.9 -0.9 -902 14.8 CREB3L1 MLX AGO1 ZFP64 YBX1 FEZF1 DMAP1 SLC30A9 ZNF143 ZNF263 TMC6 TMC8 SYNGR2 TK1 AFMID TNRC6C-AS1 ENGASE PGS1 TNRC6C
GH17G078250 1.8 FANTOM5 ENCODE dbSUPER 13.1 +124.0 124014 4.7 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 THA1P TMC8 AFMID TK1 TMC6 TMEM235 TNRC6C ENSG00000279886 PIR55590
GH17G078268 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +142.7 142721 5.6 CREB3L1 MLX AGO1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D PGS1 TMEM235 ENSG00000200063 TMC8 TMC6 SOCS3 TNRC6C LINC01993 THA1P
GH17G077887 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -241.0 -240982 1.6 PKNOX1 ATF1 CREB3L1 ARID4B ZNF2 ZNF121 GLIS2 SP3 ZHX2 ZNF592 TMC8 TNRC6C TMC6 PGS1 SOCS3 LINC01973 GC17P077921
GH17G078143 1.6 Ensembl ENCODE dbSUPER 8.6 +17.4 17350 5.8 HDGF PKNOX1 MLX ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 TMC8 TMC6 C17orf99 EIF5AP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMC8 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TMC8 gene promoter:

Genomic Location for TMC8 Gene

Chromosome:
17
Start:
78,128,851 bp from pter
End:
78,142,968 bp from pter
Size:
14,118 bases
Orientation:
Plus strand

Genomic View for TMC8 Gene

Genes around TMC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC8 Gene

Proteins for TMC8 Gene

  • Protein details for TMC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IU68-TMC8_HUMAN
    Recommended name:
    Transmembrane channel-like protein 8
    Protein Accession:
    Q8IU68
    Secondary Accessions:
    • Q2YDC0
    • Q8IWU7
    • Q8N358
    • Q8NF04

    Protein attributes for TMC8 Gene

    Size:
    726 amino acids
    Molecular mass:
    81641 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03459.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BC028076; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMC8 Gene

Post-translational modifications for TMC8 Gene

  • Glycosylation at posLast=148148 and Asn567
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMC8 Gene

Domains & Families for TMC8 Gene

Gene Families for TMC8 Gene

Protein Domains for TMC8 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8IU68

UniProtKB/Swiss-Prot:

TMC8_HUMAN :
  • Belongs to the TMC family.
Family:
  • Belongs to the TMC family.
genes like me logo Genes that share domains with TMC8: view

Function for TMC8 Gene

Molecular function for TMC8 Gene

UniProtKB/Swiss-Prot Function:
Probable ion channel.

Gene Ontology (GO) - Molecular Function for TMC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 23429285
GO:0005515 protein binding IPI 18158319
genes like me logo Genes that share ontologies with TMC8: view
genes like me logo Genes that share phenotypes with TMC8: view

Human Phenotype Ontology for TMC8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TMC8 Gene

miRTarBase miRNAs that target TMC8

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TMC8 Gene

Localization for TMC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMC8 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 TMC8 gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
peroxisome 3

Gene Ontology (GO) - Cellular Components for TMC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IDA 12426567
GO:0005783 endoplasmic reticulum IEA,IDA 12426567
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IDA 18158319
genes like me logo Genes that share ontologies with TMC8: view

Pathways & Interactions for TMC8 Gene

No Data Available

Interacting Proteins for TMC8 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000325561%0d%0a9606.ENSP00000247668%0d%0a9606.ENSP00000362994%0d%0a
Selected Interacting proteins: ENSP00000325561 Q8IU68-TMC8_HUMAN for TMC8 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TMC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IDA 18158319
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0032091 negative regulation of protein binding IDA 23429285
GO:0032460 negative regulation of protein oligomerization IDA 23429285
genes like me logo Genes that share ontologies with TMC8: view

No data available for Pathways by source and SIGNOR curated interactions for TMC8 Gene

Transcripts for TMC8 Gene

Unigene Clusters for TMC8 Gene

Transmembrane channel-like 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMC8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13 ^
SP1: - - - - - - -
SP2: -
SP3: - - -
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8:
SP9: - -
SP10: -
SP11:
SP12:

ExUns: 14 ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for TMC8 Gene

GeneLoc Exon Structure for
TMC8
ECgene alternative splicing isoforms for
TMC8

Expression for TMC8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMC8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMC8 Gene

This gene is overexpressed in Whole Blood (x13.1), Spleen (x10.9), and Small Intestine - Terminal Ileum (x5.0).

Protein differential expression in normal tissues from HIPED for TMC8 Gene

This gene is overexpressed in Bone marrow stromal cell (41.2), Peripheral blood mononuclear cells (11.4), and Plasma (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMC8 Gene



Protein tissue co-expression partners for TMC8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMC8 Gene:

TMC8

SOURCE GeneReport for Unigene cluster for TMC8 Gene:

Hs.592102

mRNA Expression by UniProt/SwissProt for TMC8 Gene:

Q8IU68-TMC8_HUMAN
Tissue specificity: Expressed in placenta, prostate and testis.

Evidence on tissue expression from TISSUES for TMC8 Gene

  • Spleen(4.4)
  • Blood(4.2)
  • Liver(4.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMC8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Organs:
Limb:
  • digit
  • foot
  • lower limb
  • toe
General:
  • blood
  • blood vessel
  • hair
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TMC8: view

Primer Products

Orthologs for TMC8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMC8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMC8 34 35
  • 98.57 (n)
cow
(Bos Taurus)
Mammalia TMC8 34 35
  • 85.55 (n)
dog
(Canis familiaris)
Mammalia TMC8 34 35
  • 84.56 (n)
mouse
(Mus musculus)
Mammalia Tmc8 34 16 35
  • 82.05 (n)
rat
(Rattus norvegicus)
Mammalia Tmc8 34
  • 81.78 (n)
oppossum
(Monodelphis domestica)
Mammalia TMC8 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMC8 35
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii TMC8 35
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for TMC8 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 TMC8 Gene

ENSEMBL:
Gene Tree for TMC8 (if available)
TreeFam:
Gene Tree for TMC8 (if available)

Paralogs for TMC8 Gene

Paralogs for TMC8 Gene

(2) SIMAP similar genes for TMC8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TMC8: view

Variants for TMC8 Gene

Sequence variations from dbSNP and Humsavar for TMC8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121908330 Pathogenic 78,134,966(+) AGCTG(A/G/T)AGAAC nc-transcript-variant, reference, missense
rs1000348982 -- 78,128,182(+) AACCC(C/T)CACCC intron-variant, upstream-variant-2KB
rs1000351055 -- 78,128,184(+) CCCCC(A/C)CCCCA intron-variant, upstream-variant-2KB
rs1000436167 -- 78,141,929(+) CCAAG(A/C)TTGCG nc-transcript-variant, utr-variant-3-prime
rs1000511732 -- 78,143,308(+) TGTCC(C/T)CATGG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for TMC8 Gene

Variant ID Type Subtype PubMed ID
nsv470607 CNV loss 18288195
nsv515500 CNV loss 19592680
nsv833554 CNV gain+loss 17160897

Variation tolerance for TMC8 Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMC8 Gene

Human Gene Mutation Database (HGMD)
TMC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMC8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMC8 Gene

Disorders for TMC8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TMC8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermodysplasia verruciformis
  • lewandowsky-lutz syndrome
superficial mycosis
  • piedra
pityriasis versicolor
  • infection by pityrosporum furfur
actinic keratosis
  • seborrheic keratosis
integumentary system cancer
- elite association - COSMIC cancer census association via MalaCards
Search TMC8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TMC8_HUMAN
  • Epidermodysplasia verruciformis (EV) [MIM:226400]: Rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions. {ECO:0000269 PubMed:12426567}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMC8

Human Genome Epidemiology (HuGE) Navigator
TMC8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMC8
genes like me logo Genes that share disorders with TMC8: view

No data available for Genatlas for TMC8 Gene

Publications for TMC8 Gene

  1. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. (PMID: 12426567) Ramoz N. … Favre M. (Nat. Genet. 2002) 2 3 4 22 64
  2. Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. (PMID: 12906855) Kurima K. … Griffith A.J. (Genomics 2003) 3 4 22 64
  3. Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation. (PMID: 19706093) McDermott D.F. … Hwang S.T. (Pediatr Dermatol 2009) 3 22 64
  4. Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses. (PMID: 18158319) Lazarczyk M. … Favre M. (J. Exp. Med. 2008) 3 22 64
  5. Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study. (PMID: 18224692) Patel A.S. … Nelson H.H. (Int. J. Cancer 2008) 3 22 64

Products for TMC8 Gene

Sources for TMC8 Gene

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