Aliases for TMC7 Gene

Aliases for TMC7 Gene

  • Transmembrane Channel Like 7 2 3 5
  • Transmembrane Channel-Like Protein 7 3 4
  • FLJ21240 2
  • TMC7 5

External Ids for TMC7 Gene

Previous GeneCards Identifiers for TMC7 Gene

  • GC16P018922
  • GC16P018961
  • GC16P018902
  • GC16P017531
  • GC16P018995

Summaries for TMC7 Gene

GeneCards Summary for TMC7 Gene

TMC7 (Transmembrane Channel Like 7) is a Protein Coding gene. Diseases associated with TMC7 include Epidermodysplasia Verruciformis 1. An important paralog of this gene is TMC4.

UniProtKB/Swiss-Prot Summary for TMC7 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMC7 Gene

Genomics for TMC7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMC7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J018983 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.6 +0.2 226 1.7 ZNF221 HNRNPL GATAD2A CTCF ZNF629 SOX13 IKZF1 KDM1A RCOR2 JUND TMC7 piR-45275-001 PKD1P4 NPIPA8 NPIPA9 PKD1P5 COQ7 ENSG00000261465
GH16J019066 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5.6 +83.8 83767 3 CEBPG SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 TFE3 COQ7 ENSG00000261465 ENSG00000261357 LOC102723385 TMC7 ITPRIPL2
GH16J018945 Enhancer 0.9 ENCODE 11.8 -37.6 -37594 1.3 GATAD2A CTCF PRDM10 LEF1 KDM1A BACH1 JUND PRDM1 RXRB PATZ1 NPIPA9 PKD1P5 NPIPA8 PKD1P4 TMC7 ARL6IP1 COQ7 SMG1
GH16J019005 Enhancer 1.1 Ensembl ENCODE 8.2 +23.0 22966 5 CEBPG HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 SOX13 RCOR2 ZNF7 NPIPA9 RPS15A TMC7 COQ7 piR-53431-245 RNU6-1340P RF00026-387
GH16J018997 Enhancer 1.1 Ensembl ENCODE 6.7 +16.1 16067 6 CREB1 GATAD2A ZNF629 TFE3 SOX13 ZNF692 RCOR2 JUND FOXA1 PKNOX1 RF00017-1997 TMC7 ENSG00000261465 COQ7 NPIPA9 piR-53338-050
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMC7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMC7

Top Transcription factor binding sites by QIAGEN in the TMC7 gene promoter:
  • ATF-2
  • c-Jun
  • Zic1

Genomic Locations for TMC7 Gene

Genomic Locations for TMC7 Gene
chr16:18,983,934-19,063,942
(GRCh38/hg38)
Size:
80,009 bases
Orientation:
Plus strand
chr16:18,995,256-19,075,264
(GRCh37/hg19)
Size:
80,009 bases
Orientation:
Plus strand

Genomic View for TMC7 Gene

Genes around TMC7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMC7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMC7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC7 Gene

Proteins for TMC7 Gene

  • Protein details for TMC7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z402-TMC7_HUMAN
    Recommended name:
    Transmembrane channel-like protein 7
    Protein Accession:
    Q7Z402
    Secondary Accessions:
    • E7ERB6
    • Q5H9Q8
    • Q7Z5M4
    • Q86WX0
    • Q9H766

    Protein attributes for TMC7 Gene

    Size:
    723 amino acids
    Molecular mass:
    83502 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15032.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMC7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMC7 Gene

Post-translational modifications for TMC7 Gene

  • Glycosylation at Asn24, Asn84, Asn96, Asn259, and Asn638
  • Modification sites at PhosphoSitePlus

Other Protein References for TMC7 Gene

No data available for DME Specific Peptides for TMC7 Gene

Domains & Families for TMC7 Gene

Gene Families for TMC7 Gene

Protein Domains for TMC7 Gene

InterPro:
Blocks:
  • TMC
ProtoNet:

Suggested Antigen Peptide Sequences for TMC7 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane channel-like protein 7 (TMC7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z402

UniProtKB/Swiss-Prot:

TMC7_HUMAN :
  • Belongs to the TMC family.
Family:
  • Belongs to the TMC family.
genes like me logo Genes that share domains with TMC7: view

Function for TMC7 Gene

Molecular function for TMC7 Gene

UniProtKB/Swiss-Prot Function:
Probable ion channel.

Phenotypes From GWAS Catalog for TMC7 Gene

Gene Ontology (GO) - Molecular Function for TMC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IBA --
GO:0008381 mechanosensitive ion channel activity IBA 21873635
genes like me logo Genes that share ontologies with TMC7: view
genes like me logo Genes that share phenotypes with TMC7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMC7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMC7 Gene

Localization for TMC7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMC7 Gene

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 TMC7 gene
Compartment Confidence
plasma membrane 4
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMC7: view

Pathways & Interactions for TMC7 Gene

PathCards logo

SuperPathways for TMC7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMC7: view

No data available for Pathways by source and SIGNOR curated interactions for TMC7 Gene

Drugs & Compounds for TMC7 Gene

No Compound Related Data Available

Transcripts for TMC7 Gene

mRNA/cDNA for TMC7 Gene

6 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMC7

Alternative Splicing Database (ASD) splice patterns (SP) for TMC7 Gene

No ASD Table

Relevant External Links for TMC7 Gene

GeneLoc Exon Structure for
TMC7

Expression for TMC7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMC7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMC7 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.6) and Brain - Substantia nigra (x4.3).

Protein differential expression in normal tissues from HIPED for TMC7 Gene

This gene is overexpressed in Urine (33.7), Heart (18.2), and Placenta (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMC7 Gene



Protein tissue co-expression partners for TMC7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMC7

SOURCE GeneReport for Unigene cluster for TMC7 Gene:

Hs.187377

Evidence on tissue expression from TISSUES for TMC7 Gene

  • Nervous system(4.4)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with TMC7: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMC7 Gene

Orthologs for TMC7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMC7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMC7 30 31
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMC7 30 31
  • 89.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMC7 30 31
  • 88.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmc7 30 17 31
  • 85.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmc7 30
  • 85.54 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMC7 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMC7 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMC7 30 31
  • 64.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMC7 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100493700 30
  • 61.35 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13901 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Species where no ortholog for TMC7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TMC7 Gene

ENSEMBL:
Gene Tree for TMC7 (if available)
TreeFam:
Gene Tree for TMC7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMC7: view image

Paralogs for TMC7 Gene

Paralogs for TMC7 Gene

(2) SIMAP similar genes for TMC7 Gene using alignment to 3 proteins:

  • TMC7_HUMAN
  • E7ERB6_HUMAN
  • H3BNW8_HUMAN
genes like me logo Genes that share paralogs with TMC7: view

Variants for TMC7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMC7 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
714686 Benign: not provided 19,040,419(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
786287 Benign: not provided 19,045,446(+) C/T INTRON_VARIANT
rs11864159 - p.Thr635Ile
rs17854512 - p.Arg59Trp
rs4072393 - p.Gly254Glu

Additional dbSNP identifiers (rs#s) for TMC7 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMC7 Gene

Variant ID Type Subtype PubMed ID
dgv2787n100 CNV gain 25217958
esv27011 CNV loss 19812545
esv2758634 CNV gain+loss 17122850
esv34419 CNV gain 17911159
esv3570409 CNV gain 25503493
esv3638119 CNV loss 21293372
esv3892806 CNV gain 25118596
nsv1045019 CNV gain 25217958
nsv1047485 CNV gain 25217958
nsv1051531 CNV gain 25217958
nsv436835 CNV insertion 17901297
nsv509603 CNV insertion 20534489
nsv571579 CNV gain 21841781
nsv571580 CNV gain 21841781
nsv571582 CNV gain 21841781
nsv817724 CNV gain 17921354
nsv9387 CNV loss 18304495
nsv984286 CNV duplication 23825009

Variation tolerance for TMC7 Gene

Residual Variation Intolerance Score: 50.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.95; 74.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMC7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMC7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMC7 Gene

Disorders for TMC7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMC7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epidermodysplasia verruciformis 1
  • epidermodysplasia verruciformis, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search TMC7 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with TMC7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMC7 Gene

Publications for TMC7 Gene

  1. 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) 2 3 4
  2. 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) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4

Products for TMC7 Gene

Sources for TMC7 Gene