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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. Gene Ontology (GO) annotations related to this gene include signaling 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for TMC8 Gene

Promoters and enhancers for TMC8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J078120 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 677.8 -0.9 -901 14.8 MLX ZFP64 YBX1 FEZF1 DMAP1 SLC30A9 ZNF143 SP3 NFYC MEF2D TMC8 TMC6 USP36 SYNGR2 AFMID TK1 TNRC6C-AS1 ENGASE PGS1 TNRC6C
GH17J077137 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.7 -985.4 -985412 12.5 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SEPT9 SEC14L1 LOC105371901 SRSF2 ENSG00000267546 METTL23 TMC8 MFSD11 RHBDF2 ENSG00000272386
GH17J078250 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +124.0 124014 4.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC ENSG00000279886 THA1P USP36 TMC8 SEPT9 TK1 AFMID TMC6 TMEM235 TNRC6C
GH17J077415 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -696.9 -696894 32.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 METTL23 SRSF2 MFSD11 TMC8 RHBDF2 SEPT9 ENSG00000279801 ENSG00000200651 GC17P077466 GC17M077408
GH17J077887 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -241.0 -240982 1.6 PKNOX1 ATF1 ARID4B ZNF2 GLIS2 ATF7 SP3 RXRA ZHX2 ZNF592 TMC8 TNRC6C TMC6 PGS1 SOCS3 LINC01973 GC17P077921
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMC8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMC8 gene promoter:
  • c-Ets-1

Genomic Locations for TMC8 Gene

Genomic Locations for TMC8 Gene
14,118 bases
Plus strand
12,199 bases
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:
    Recommended name:
    Transmembrane channel-like protein 8
    Protein Accession:
    Secondary Accessions:
    • Q2YDC0
    • Q8IWU7
    • Q8N358
    • Q8NF04

    Protein attributes for TMC8 Gene

    726 amino acids
    Molecular mass:
    81641 Da
    Quaternary structure:
    No Data Available
    • 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


neXtProt entry for TMC8 Gene

Post-translational modifications for TMC8 Gene

  • Glycosylation at posLast=567567 and isoforms=148
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMC8 Gene

Domains & Families for TMC8 Gene

Gene Families for TMC8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMC8 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TMC 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.

Phenotypes From GWAS Catalog for TMC8 Gene

Gene Ontology (GO) - Molecular Function for TMC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling 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

Clone 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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IDA 12426567
GO:0005783 endoplasmic reticulum IDA,IEA 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)
Selected Interacting proteins: Q8IU68-TMC8_HUMAN ENSP00000325561 for TMC8 Gene via IID STRING

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:0006811 ion transport IEA --
GO:0032091 negative regulation of protein binding IDA 23429285
GO:0032460 negative regulation of protein oligomerization IDA 23429285
GO:0055069 zinc ion homeostasis IDA 18158319
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

Drugs & Compounds for TMC8 Gene

No Compound Related Data Available

Transcripts for TMC8 Gene

Unigene Clusters for TMC8 Gene

Transmembrane channel-like 8:
Representative Sequences:

Clone 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: - -
SP9: - -
SP10: -

ExUns: 14 ^ 15a · 15b

Relevant External Links for TMC8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for TMC8 Gene:


mRNA Expression by UniProt/SwissProt for TMC8 Gene:

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
  • cardiovascular
  • immune
  • integumentary
  • digit
  • foot
  • lower limb
  • toe
  • blood
  • blood vessel
  • hair
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TMC8: view

Orthologs for TMC8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMC8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMC8 34 33
  • 98.57 (n)
(Bos Taurus)
Mammalia TMC8 34 33
  • 85.55 (n)
(Canis familiaris)
Mammalia TMC8 34 33
  • 84.56 (n)
(Mus musculus)
Mammalia Tmc8 16 34 33
  • 82.05 (n)
(Rattus norvegicus)
Mammalia Tmc8 33
  • 81.78 (n)
(Monodelphis domestica)
Mammalia TMC8 34
  • 63 (a)
(Anolis carolinensis)
Reptilia TMC8 34
  • 42 (a)
(Danio rerio)
Actinopterygii TMC8 34
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
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

Gene Tree for TMC8 (if available)
Gene Tree for TMC8 (if available)
Evolutionary constrained regions (ECRs) for TMC8: view image

Paralogs for TMC8 Gene

Paralogs for TMC8 Gene

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

  • A5D8Y4_HUMAN
  • K7EJ72_HUMAN
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 Variation AA Info Type
rs112802399 benign, EPIDERMODYSPLASIA VERRUCIFORMIS 78,134,906(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs11651675 benign, EPIDERMODYSPLASIA VERRUCIFORMIS 78,138,156(+) G/A 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs11651864 benign, EPIDERMODYSPLASIA VERRUCIFORMIS 78,138,569(+) G/A/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs121908330 pathogenic, EPIDERMODYSPLASIA VERRUCIFORMIS 78,134,966(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs139972217 benign, EPIDERMODYSPLASIA VERRUCIFORMIS 78,140,913(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for TMC8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TMC8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMC8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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


  • 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.

Additional Disease Information for 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 (Nature genetics 2002) 2 3 4 22 58
  2. Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. (PMID: 12906855) Kurima K … Griffith AJ (Genomics 2003) 3 4 22 58
  3. Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation. (PMID: 19706093) McDermott DF … Hwang ST (Pediatric dermatology 2009) 3 22 58
  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 (The Journal of experimental medicine 2008) 3 22 58
  5. Cutaneous human papillomavirus infection, the EVER2 gene and incidence of squamous cell carcinoma: a case-control study. (PMID: 18224692) Patel AS … Nelson HH (International journal of cancer 2008) 3 22 58

Products for TMC8 Gene

Sources for TMC8 Gene

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