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Aliases for TMC6 Gene

Aliases for TMC6 Gene

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

External Ids for TMC6 Gene

Previous Symbols for TMC6 Gene

  • EVER1

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 pityriasis versicolor. An important paralog of this gene is TMC7.

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

Genomic Location for TMC6 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC6 Gene

Regulatory Elements for TMC6 Gene

Transcription factor binding sites by QIAGEN in the TMC6 gene promoter:

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

Proteomics data for TMC6 Gene at MOPED

Post-translational modifications for TMC6 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys151 and Lys409
  • Glycosylation at Asn103 and Asn312

No data available for DME Specific Peptides for TMC6 Gene

Domains for TMC6 Gene

Protein Domains for TMC6 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TMC6_HUMAN
Family:
  • Belongs to the TMC family.:
    • Q7Z403
genes like me logo Genes that share domains with TMC6: view

No data available for Gene Families for TMC6 Gene

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

miRNA for TMC6 Gene

miRTarBase miRNAs that target TMC6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for TMC6 Gene COMPARTMENTS Subcellular localization image for TMC6 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 2
endosome 1

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 IDA 12426567
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IDA 18158319
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMC6: view

Pathways for TMC6 Gene

SuperPathways for TMC6 Gene

No Data Available

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 for TMC6 Gene via STRING

Gene Ontology (GO) - Biological Process for TMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 Pathways by source for TMC6 Gene

Transcripts for TMC6 Gene

Unigene Clusters for TMC6 Gene

Transmembrane channel-like 6:
Representative Sequences:

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 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 (6.2) and Spleen (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TMC6 Gene

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 expressions 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 36
  • 99.55 (n)
  • 99.04 (a)
TMC6 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMC6 36
  • 84.17 (n)
  • 78.5 (a)
TMC6 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMC6 36
  • 83.93 (n)
  • 79.1 (a)
TMC6 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmc6 36
  • 78.95 (n)
  • 75.81 (a)
Tmc6 16
Tmc6 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMC6 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMC6 37
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859142 36
  • 66.31 (n)
  • 59.52 (a)
TMC6 37
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMC6 37
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6120 36
tropical clawed frog
(Silurana tropicalis)
Amphibia tmc6 36
  • 56.19 (n)
  • 53.85 (a)
zebrafish
(Danio rerio)
Actinopterygii TMC6 (1 of 2) 37
  • 44 (a)
OneToMany
tmc6a 37
  • 42 (a)
OneToMany
tmc6b 36
  • 59.22 (n)
  • 52.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3280 37
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tmc-1 37
  • 11 (a)
ManyToMany
tmc-2 37
  • 12 (a)
ManyToMany
Species with no ortholog for TMC6:
  • 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

Selected 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 MAF
rs736963 -- 78,126,139(-) CGGGC(C/T)CCTAG intron-variant
rs743047 -- 78,119,936(-) GTGTG(G/T)TGGCT intron-variant
rs761772 -- 78,125,997(-) AAAGG(A/G/T)TTTTC intron-variant
rs1474865 -- 78,122,806(-) TCTCC(C/G)CTTGG intron-variant
rs1997978 -- 78,121,890(-) CTCTG(C/T)GCCTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833554 CNV Gain+Loss 17160897
nsv908860 CNV Loss 21882294
dgv3275n71 CNV Loss 21882294
dgv3276n71 CNV Loss 21882294
dgv3277n71 CNV Loss 21882294
dgv3278n71 CNV Loss 21882294
nsv908871 CNV Loss 21882294
esv2716301 CNV Deletion 23290073
esv2716302 CNV Deletion 23290073
esv2716304 CNV Deletion 23290073
esv2716303 CNV Deletion 23290073
nsv515500 CNV Loss 19592680
nsv470607 CNV Loss 18288195

Relevant External Links for TMC6 Gene

HapMap Linkage Disequilibrium report
TMC6
Human Gene Mutation Database (HGMD)
TMC6
Locus Specific Mutation Databases (LSDB)
TMC6

Disorders for TMC6 Gene

(1) OMIM Diseases for TMC6 Gene (605828)

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.

(3) University of Copenhagen DISEASES for TMC6 Gene

(2) Novoseek inferred disease relationships for TMC6 Gene

Disease -log(P) Hits PubMed IDs
epidermodysplasia verruciformis 95.5 5
skin carcinoma 77.1 1

Relevant External Links for TMC6

Genetic Association Database (GAD)
TMC6
Human Genome Epidemiology (HuGE) Navigator
TMC6
genes like me logo Genes that share disorders with TMC6: view

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 23
  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 23
  3. 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 23
  4. TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. (PMID: 12812529) Keresztes G. … Heller S. (BMC Genomics 2003) 3 23
  5. Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. (PMID: 17008061) Zuo Y.G. … Wang B. (J. Dermatol. Sci. 2006) 3 23

Products for TMC6 Gene

Sources for TMC6 Gene

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