Aliases for TMC5 Gene

Aliases for TMC5 Gene

  • Transmembrane Channel Like 5 2 3 5
  • Transmembrane Channel-Like Protein 5 3 4

External Ids for TMC5 Gene

Previous GeneCards Identifiers for TMC5 Gene

  • GC16P019379
  • GC16P019434
  • GC16P019375
  • GC16P019329
  • GC16P017959

Summaries for TMC5 Gene

GeneCards Summary for TMC5 Gene

TMC5 (Transmembrane Channel Like 5) is a Protein Coding gene. Diseases associated with TMC5 include Pachyonychia Congenita 1. An important paralog of this gene is TMC6.

UniProtKB/Swiss-Prot Summary for TMC5 Gene

Additional gene information for TMC5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMC5 Gene

Genomics for TMC5 Gene

GeneHancer (GH) Regulatory Elements for TMC5 Gene

Promoters and enhancers for TMC5 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
GH16J019409 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 514.6 +0.6 603 2.2 CTCF TCF12 MYC USF1 ZFX ZIC2 ZBTB26 UBTF EZH2 ATF2 TMC5 ENSG00000260681 lnc-TMC5-2 SYT17 ENSG00000259925 KNOP1
GH16J019416 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 511.7 +8.1 8090 4.2 TCF12 CTCF EP300 RBM25 ESRRA KDM1A CREB1 BRCA1 FOS POLR2A TMC5 SYT17 ENSG00000259925 ENSG00000260681 lnc-TMC5-2 piR-32214-246
GH16J019392 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 515.3 -15.4 -15408 5.5 ZNF217 TCF12 ZNF10 POLR2A AFF1 RFX1 HES1 CTBP1 GATAD2B FOXA2 TMC5 ENSG00000280265 LOC105371114 SYT17 RNU4-46P COQ7 ENSG00000259925
GH16J019456 Promoter 0.3 EPDnew 500.3 +45.9 45949 0.1 TMC5 piR-32214-246 ENSG00000260681
GH16J019381 Enhancer 0.9 Ensembl ENCODE 34.7 -26.8 -26797 3.8 ZIC2 TEAD1 CTBP1 OSR2 FOXA2 ZBTB17 CEBPB ELF1 GATA3 SMAD4 TMC5 SYT17 KNOP1 GDE1 piR-31199-125 piR-42694-059 LOC105371114 ENSG00000259925
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMC5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMC5

Top Transcription factor binding sites by QIAGEN in the TMC5 gene promoter:
  • AREB6
  • FOXI1
  • Gfi-1
  • HFH-3
  • PPAR-gamma1
  • PPAR-gamma2
  • SRY
  • XBP-1

Genomic Locations for TMC5 Gene

Genomic Locations for TMC5 Gene
88,618 bases
Plus strand
88,618 bases
Plus strand

Genomic View for TMC5 Gene

Genes around TMC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC5 Gene

Proteins for TMC5 Gene

  • Protein details for TMC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane channel-like protein 5
    Protein Accession:
    Secondary Accessions:
    • Q68DK8
    • Q8IY20
    • Q8NHV6
    • Q9H8I7

    Protein attributes for TMC5 Gene

    1006 amino acids
    Molecular mass:
    114797 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB14629.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMC5 Gene


neXtProt entry for TMC5 Gene

Post-translational modifications for TMC5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMC5 Gene

Domains & Families for TMC5 Gene

Gene Families for TMC5 Gene

Protein Domains for TMC5 Gene

  • TMC

Suggested Antigen Peptide Sequences for TMC5 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane channel-like protein 5 (TMC5_HUMAN)

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 TMC5: view

Function for TMC5 Gene

Molecular function for TMC5 Gene

UniProtKB/Swiss-Prot Function:
Probable ion channel.

Phenotypes From GWAS Catalog for TMC5 Gene

Gene Ontology (GO) - Molecular Function for TMC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IBA 21873635
GO:0008381 mechanosensitive ion channel activity IBA 21873635
genes like me logo Genes that share ontologies with TMC5: view
genes like me logo Genes that share phenotypes with TMC5: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMC5 Gene

Localization for TMC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMC5 Gene

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 TMC5 gene
Compartment Confidence
plasma membrane 4
peroxisome 2
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMC5 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 --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with TMC5: view

Pathways & Interactions for TMC5 Gene

PathCards logo

SuperPathways for TMC5 Gene

No Data Available

Interacting Proteins for TMC5 Gene

Selected Interacting proteins: Q6UXY8-TMC5_HUMAN for TMC5 Gene via IID


Gene Ontology (GO) - Biological Process for TMC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMC5: view

No data available for Pathways by source and SIGNOR curated interactions for TMC5 Gene

Drugs & Compounds for TMC5 Gene

No Compound Related Data Available

Transcripts for TMC5 Gene

mRNA/cDNA for TMC5 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMC5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b · 19c
SP1: - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: -
SP6: - -

Relevant External Links for TMC5 Gene

GeneLoc Exon Structure for

Expression for TMC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMC5 Gene

This gene is overexpressed in Minor Salivary Gland (x11.3), Small Intestine - Terminal Ileum (x9.0), Colon - Transverse (x6.9), Stomach (x6.6), and Lung (x5.1).

Protein differential expression in normal tissues from HIPED for TMC5 Gene

This gene is overexpressed in Nasal epithelium (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMC5 Gene

Protein tissue co-expression partners for TMC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMC5

SOURCE GeneReport for Unigene cluster for TMC5 Gene:


Evidence on tissue expression from TISSUES for TMC5 Gene

  • Intestine(2.4)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with TMC5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMC5 Gene

Orthologs for TMC5 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMC5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMC5 31 30
  • 98.94 (n)
(Canis familiaris)
Mammalia TMC5 31 30
  • 85.19 (n)
(Bos Taurus)
Mammalia TMC5 31 30
  • 84.41 (n)
(Mus musculus)
Mammalia Tmc5 17 31 30
  • 80.3 (n)
(Rattus norvegicus)
Mammalia Tmc5 30
  • 79.57 (n)
(Ornithorhynchus anatinus)
Mammalia TMC5 31
  • 54 (a)
(Monodelphis domestica)
Mammalia TMC5 31
  • 52 (a)
(Gallus gallus)
Aves TMC5 31 30
  • 60.06 (n)
(Anolis carolinensis)
Reptilia TMC5 31
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmc5 30
  • 57.48 (n)
(Danio rerio)
Actinopterygii LOC561497 30
  • 57.63 (n)
TMC5 31
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000578 30
  • 45.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3280 31
  • 8 (a)
(Caenorhabditis elegans)
Secernentea tmc-2 31
  • 13 (a)
tmc-1 31
  • 11 (a)
Species where no ortholog for TMC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 TMC5 Gene

Gene Tree for TMC5 (if available)
Gene Tree for TMC5 (if available)
Evolutionary constrained regions (ECRs) for TMC5: view image

Paralogs for TMC5 Gene

Paralogs for TMC5 Gene

(1) SIMAP similar genes for TMC5 Gene using alignment to 5 proteins:

  • H3BN68_HUMAN
  • I3L0P3_HUMAN
  • I3L469_HUMAN
genes like me logo Genes that share paralogs with TMC5: view

Variants for TMC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMC5 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs16972013 - p.Ser328Asn
rs36019638 - p.Ala355Thr

Additional dbSNP identifiers (rs#s) for TMC5 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMC5 Gene

Variant ID Type Subtype PubMed ID
dgv1312n106 CNV deletion 24896259
esv2116787 CNV deletion 18987734
esv2678457 CNV deletion 23128226
esv2714051 CNV deletion 23290073
esv2714053 CNV deletion 23290073
esv2714054 CNV deletion 23290073
esv27832 CNV loss 19812545
esv3553202 CNV deletion 23714750
esv3553203 CNV deletion 23714750
esv3553207 CNV deletion 23714750
esv3582073 CNV loss 25503493
esv3792 CNV loss 18987735
nsv1070339 CNV deletion 25765185
nsv1070501 CNV deletion 25765185
nsv1071275 CNV deletion 25765185
nsv1113765 CNV deletion 24896259
nsv1116118 CNV deletion 24896259
nsv436835 CNV insertion 17901297
nsv478473 CNV novel sequence insertion 20440878
nsv571582 CNV gain 21841781
nsv833162 CNV loss 17160897
nsv833163 CNV gain 17160897
nsv958193 CNV deletion 24416366

Variation tolerance for TMC5 Gene

Residual Variation Intolerance Score: 93.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMC5 Gene

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 TMC5 Gene

Disorders for TMC5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMC5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pachyonychia congenita 1
  • pc1
- elite association - COSMIC cancer census association via MalaCards
Search TMC5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMC5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TMC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMC5 Gene

Publications for TMC5 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 54
  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 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PMID: 18649358) Ng D … Taylor PR (International journal of cancer 2008) 3 41 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for TMC5 Gene

Sources for TMC5 Gene