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Aliases for TMC6 Gene

Aliases for TMC6 Gene

  • Transmembrane Channel Like 6 2 3 5
  • Epidermodysplasia Verruciformis Protein 1 3 4
  • Epidermodysplasia Verruciformis 1 2 3
  • Protein LAK-4 3 4
  • EVER1 3 4
  • EVIN1 3 4
  • Expressed In Activated T/LAK Lymphocytes 3
  • Transmembrane Channel-Like Protein 6 3
  • LAK-4P 3
  • EV1 3

External Ids for TMC6 Gene

Previous HGNC Symbols for TMC6 Gene

  • EVER1

Previous GeneCards Identifiers for TMC6 Gene

  • GC17M073619
  • GC17M076108
  • GC17M071533

Summaries for TMC6 Gene

Entrez Gene Summary for TMC6 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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]

GeneCards Summary for TMC6 Gene

TMC6 (Transmembrane Channel Like 6) is a Protein Coding gene. Diseases associated with TMC6 include Epidermodysplasia Verruciformis and Superficial Mycosis. Among its related pathways are Immune System. An important paralog of this gene is TMC5.

UniProtKB/Swiss-Prot for TMC6 Gene

  • Probable ion channel.

Gene Wiki entry for TMC6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMC6 Gene

Genomics for TMC6 Gene

Regulatory Elements for TMC6 Gene

Enhancers for TMC6 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
GH17F078120 1.5 FANTOM5 ENCODE 20.9 +4.5 4458 14.8 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A YBX1 FEZF1 TMC6 TMC8 SYNGR2 AFMID TK1 TNRC6C-AS1 ENGASE PGS1 TNRC6C
GH17F078250 1.5 FANTOM5 ENCODE 9.3 -120.5 -120458 4.7 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 THA1P TMC8 TK1 AFMID LGALS3BP TMC6 TMEM235 TNRC6C ENSG00000279886 PIR55590
GH17F078265 1.8 FANTOM5 Ensembl ENCODE 7.6 -137.3 -137346 9.3 HDGF PKNOX1 MLX ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 PGS1 TMEM235 ENSG00000200063 TMC8 TMC6 SOCS3 TNRC6C LINC01993 THA1P
GH17F077886 1.6 FANTOM5 Ensembl ENCODE 6.4 +244.9 244906 2.6 ATF1 PKNOX1 CREB3L1 ARID4B ZNF2 ZNF121 GLIS2 SP3 ZHX2 ZNF592 PGS1 TMC8 TNRC6C TMC6 SOCS3 LINC01973 GC17P077921
GH17F077957 1.8 FANTOM5 Ensembl ENCODE 5.3 +172.4 172438 5.7 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 RNU1-80P LINC01973 TMC8 TNRC6C TMC6 SOCS3 TMEM235 PGS1 GC17P077979
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMC6 on UCSC Golden Path with GeneCards custom track

Promoters for TMC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001538423 807 2001 HDGF PKNOX1 MLX SIN3A ARID4B DMAP1 ZNF48 SLC30A9 GLIS2 SP5

Genomic Location for TMC6 Gene

Chromosome:
17
Start:
78,110,458 bp from pter
End:
78,132,407 bp from pter
Size:
21,950 bases
Orientation:
Minus strand

Genomic View for TMC6 Gene

Genes around TMC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC6 Gene

Proteins for TMC6 Gene

  • Protein details for TMC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z403-TMC6_HUMAN
    Recommended name:
    Transmembrane channel-like protein 6
    Protein Accession:
    Q7Z403
    Secondary Accessions:
    • O43284
    • Q45VJ2
    • Q8IU98
    • Q8IUI7
    • Q8IWU8
    • Q8TEQ7
    • Q9HAG5

    Protein attributes for TMC6 Gene

    Size:
    805 amino acids
    Molecular mass:
    90045 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH35648.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA24179.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB84891.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TMC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMC6 Gene

Post-translational modifications for TMC6 Gene

  • Ubiquitination at Lys 151 and Lys 409
  • Glycosylation at Asn 103 and Asn 312
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TMC6

No data available for DME Specific Peptides for TMC6 Gene

Domains & Families for TMC6 Gene

Gene Families for TMC6 Gene

Protein Domains for TMC6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TMC6 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z403

UniProtKB/Swiss-Prot:

TMC6_HUMAN :
  • Belongs to the TMC family.
Family:
  • Belongs to the TMC family.
genes like me logo Genes that share domains with TMC6: view

Function for TMC6 Gene

Molecular function for TMC6 Gene

UniProtKB/Swiss-Prot Function:
Probable ion channel.

Gene Ontology (GO) - Molecular Function for TMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18158319
genes like me logo Genes that share ontologies with TMC6: view
genes like me logo Genes that share phenotypes with TMC6: view

Human Phenotype Ontology for TMC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMC6 Gene

MGI Knock Outs for TMC6:
  • Tmc6 tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for TMC6 Gene

miRTarBase miRNAs that target TMC6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TMC6 Gene

Localization for TMC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMC6 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 TMC6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 2

Gene Ontology (GO) - Cellular Components for TMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12426567
GO:0005783 endoplasmic reticulum IEA,IDA 12426567
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IDA 18158319
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TMC6: view

Pathways & Interactions for TMC6 Gene

SuperPathway Contained pathways
1 Immune System
genes like me logo Genes that share pathways with TMC6: view

Pathways by source for TMC6 Gene

2 Reactome pathways for TMC6 Gene

Interacting Proteins for TMC6 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.ENSP00000313408%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000403397%0d%0a
Selected Interacting proteins: ENSP00000313408 Q7Z403-TMC6_HUMAN for TMC6 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMC6: view

No data available for SIGNOR curated interactions for TMC6 Gene

Transcripts for TMC6 Gene

Unigene Clusters for TMC6 Gene

Transmembrane channel-like 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMC6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f · 3g ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^
SP1: - - - - - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5:
SP6: - - - - - - - -
SP7:
SP8: - - - - - - - - - - - - -
SP9: - - - - - - - -
SP10: - - - -
SP11: - - - - - -
SP12:
SP13: - - -
SP14: - -
SP15:
SP16: - - - - -
SP17: - - - -
SP18:
SP19:

ExUns: 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - -
SP6:
SP7: - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for TMC6 Gene

GeneLoc Exon Structure for
TMC6
ECgene alternative splicing isoforms for
TMC6

Expression for TMC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMC6 Gene

This gene is overexpressed in Whole Blood (x6.2) and Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for TMC6 Gene

This gene is overexpressed in Monocytes (22.6), Plasma (12.6), Peripheral blood mononuclear cells (10.5), NK cells (6.9), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMC6 Gene



Protein tissue co-expression partners for TMC6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMC6 Gene:

TMC6

SOURCE GeneReport for Unigene cluster for TMC6 Gene:

Hs.632227

mRNA Expression by UniProt/SwissProt for TMC6 Gene:

Q7Z403-TMC6_HUMAN
Tissue specificity: Expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes.
genes like me logo Genes that share expression patterns with TMC6: view

Orthologs for TMC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMC6 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia TMC6 34 35
  • 84.17 (n)
dog
(Canis familiaris)
Mammalia TMC6 34 35
  • 83.93 (n)
mouse
(Mus musculus)
Mammalia Tmc6 34 16 35
  • 78.95 (n)
oppossum
(Monodelphis domestica)
Mammalia TMC6 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMC6 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859142 34
  • 66.31 (n)
TMC6 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMC6 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmc6 34
  • 56.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6120 34
zebrafish
(Danio rerio)
Actinopterygii tmc6b 34
  • 59.22 (n)
TMC6 (1 of 2) 35
  • 44 (a)
OneToMany
tmc6a 35
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3280 35
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tmc-2 35
  • 12 (a)
ManyToMany
tmc-1 35
  • 11 (a)
ManyToMany
Species where no ortholog for TMC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TMC6 Gene

ENSEMBL:
Gene Tree for TMC6 (if available)
TreeFam:
Gene Tree for TMC6 (if available)

Paralogs for TMC6 Gene

Paralogs for TMC6 Gene

(1) SIMAP similar genes for TMC6 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for TMC6 Gene

genes like me logo Genes that share paralogs with TMC6: view

Variants for TMC6 Gene

Sequence variations from dbSNP and Humsavar for TMC6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121908327 Pathogenic 78,125,876(-) GCAGC(C/T)GAGGT nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs121908328 Pathogenic 78,119,382(-) TCTCC(A/G/T)AGAAG intron-variant, nc-transcript-variant, reference, missense, stop-gained
rs121908329 Pathogenic 78,124,671(-) TCCTA(A/C)TTCCT intron-variant, nc-transcript-variant, reference, stop-gained
rs769471844 Pathogenic 78,124,181(+) AACCC(A/T)GCCAC splice-acceptor-variant
rs1012373 -- 78,108,540(+) AGGGT(A/G)TGCAA intron-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TMC6 Gene

Variant ID Type Subtype PubMed ID
esv2716301 CNV deletion 23290073
esv2716302 CNV deletion 23290073
esv2716303 CNV deletion 23290073
esv2716304 CNV deletion 23290073
nsv1113890 CNV deletion 24896259
nsv470607 CNV loss 18288195
nsv515500 CNV loss 19592680
nsv833554 CNV gain+loss 17160897

Variation tolerance for TMC6 Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.76; 94.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMC6 Gene

Human Gene Mutation Database (HGMD)
TMC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMC6 Gene

Disorders for TMC6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TMC6 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
- elite association - COSMIC cancer census association via MalaCards
Search TMC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TMC6_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, ECO:0000269 PubMed:15042430}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMC6

Genetic Association Database (GAD)
TMC6
Human Genome Epidemiology (HuGE) Navigator
TMC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMC6
genes like me logo Genes that share disorders with TMC6: view

No data available for Genatlas for TMC6 Gene

Publications for TMC6 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. Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. (PMID: 15042430) Tate G. … Mitsuya T. (J. Hum. Genet. 2004) 3 4 22 64
  3. 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
  4. 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
  5. 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

Products for TMC6 Gene

Sources for TMC6 Gene

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