TMC8 Gene (Protein Coding)

Transmembrane Channel Like 8

GC17P078130
GIFtS:
41
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 local... See more...

Aliases for TMC8 Gene

Aliases for TMC8 Gene

  • Transmembrane Channel Like 8 2 3 5
  • EVIN2 2 3 4
  • Epidermodysplasia Verruciformis Protein 2 3 4
  • Transmembrane Channel-Like Protein 8 3 4
  • Epidermodysplasia Verruciformis 2 2 3
  • EVER2 3 4
  • TMC8 5
  • 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 2 and Epidermodysplasia Verruciformis 1. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is TMC4.

UniProtKB/Swiss-Prot Summary for TMC8 Gene

Gene Wiki entry for TMC8 Gene

Additional gene information for TMC8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMC8 Gene

Genomics for TMC8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TMC8 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMC8

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

Genomic Locations for TMC8 Gene

Latest Assembly
chr17:78,129,298-78,142,968
(GRCh38/hg38)
Size:
13,671 bases
Orientation:
Plus strand

Previous Assembly
chr17:76,126,852-76,139,049
(GRCh37/hg19 by Entrez Gene)
Size:
12,198 bases
Orientation:
Plus strand

chr17:76,126,851-76,139,049
(GRCh37/hg19 by Ensembl)
Size:
12,199 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 Structure • Gene Density

RefSeq DNA sequence for TMC8 Gene

Proteins for TMC8 Gene

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  • 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:
    • Interacts with CIB1.
    SequenceCaution:
    • Sequence=BAC03459.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Protein Expression for TMC8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TMC8 Gene

  • Glycosylation at Asn148 and Asn567
  • Modification sites at PhosphoSitePlus

Other Protein References for TMC8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMC8 Gene

Domains & Families for TMC8 Gene

Gene Families for TMC8 Gene

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

Protein Domains for TMC8 Gene

InterPro:
Blocks:
  • TMC
ProtoNet:

Suggested Antigen Peptide Sequences for TMC8 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane channel-like 8 (A5D8Y4_HUMAN)
  • cDNA FLJ61017, highly similar to Transmembrane channel-like protein 8 (B4E0S0_HUMAN)
  • Epidermodysplasia verruciformis protein 2 (TMC8_HUMAN)

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

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  6. Cell Lines for research

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:0005515 protein binding IPI 18158319
GO:0008381 mechanosensitive ion channel activity IBA 21873635
GO:0043120 tumor necrosis factor binding IPI 23429285
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMC8

Clone products for research

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
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
extracellular 4
peroxisome 2
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1

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 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

PathCards logo

SuperPathways for TMC8 Gene

No Data Available

Interacting Proteins for TMC8 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000325561 Q8IU68-TMC8_HUMAN for TMC8 Gene via STRING IID

GPS-Prot Interaction Network for TMC8

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:0031333 negative regulation of protein complex assembly IDA 23429285
GO:0032091 negative regulation of protein binding IDA 23429285
GO:0034220 ion transmembrane transport IEA --
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

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TMC8 Gene

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mRNA/cDNA for TMC8 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMC8

Clone products for research

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

Expression for TMC8 Gene

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

mRNA expression in normal human tissues for TMC8 Gene
mRNA expression by BioGPS for TMC8 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Blood(4.4)
  • Liver(4.2)
  • Lymph node(2.4)
  • Bone marrow(2.2)
  • Intestine(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Regions:
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 for research

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 30 31
  • 98.57 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TMC8 30 31
  • 85.55 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TMC8 30 31
  • 84.56 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tmc8 30 17 31
  • 82.05 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tmc8 30
  • 81.78 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TMC8 31
  • 63 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TMC8 31
  • 42 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii TMC8 31
  • 31 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 29 (a)
 OneToMany
Species where no ortholog for TMC8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
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:

  • TMC8_HUMAN
  • A5D8Y4_HUMAN
  • K7EJ72_HUMAN
genes like me logo Genes that share paralogs with TMC8: view

Variants for TMC8 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMC8 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
836154 Uncertain Significance: Epidermodysplasia verruciformis 78,141,023(+) G/A
NM_152468.5(TMC8):c.2092G>A (p.Ala698Thr) 		MISSENSE
838905 Uncertain Significance: Epidermodysplasia verruciformis 78,134,412(+) C/G
NM_152468.5(TMC8):c.835C>G (p.Arg279Gly) 		MISSENSE
844669 Uncertain Significance: Epidermodysplasia verruciformis 78,138,064(+) T/G
NM_152468.5(TMC8):c.1409T>G (p.Leu470Arg) 		MISSENSE
845524 Uncertain Significance: Epidermodysplasia verruciformis 78,133,948(+) G/A
NM_152468.5(TMC8):c.764G>A (p.Arg255Gln) 		MISSENSE
846234 Uncertain Significance: Epidermodysplasia verruciformis 78,137,342(+) A/G
NM_152468.5(TMC8):c.1235A>G (p.Asn412Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMC8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
TMC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMC8

SNP Genotyping and Copy Number Assays for research

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

Disorders for TMC8 Gene

MalaCards: The human disease database

(16) MalaCards diseases for TMC8 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
epidermodysplasia verruciformis 2
  • epidermodysplasia verruciformis, susceptibility to, 2
epidermodysplasia verruciformis 1
  • epidermodysplasia verruciformis, susceptibility to, 1
pityriasis versicolor
  • infection by pityrosporum furfur
superficial mycosis
  • piedra
skin carcinoma
  • carcinoma of skin
- 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 2 (EV2) [MIM:618231]: A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. {ECO:0000269 PubMed:12426567, ECO:0000269 PubMed:28646613}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TMC8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23 74
  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 23
  3. The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. (PMID: 30068544) de Jong SJ … Casanova JL (The Journal of experimental medicine 2018) 3 4
  4. Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. (PMID: 28646613) Imahorn E … Burger B (Journal of the European Academy of Dermatology and Venereology : JEADV 2017) 3 4
  5. Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation. (PMID: 19706093) McDermott DF … Hwang ST (Pediatric dermatology 2009) 3 23

ExternalLinks

View latest publications for TMC8 gene in Mastermind

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