Aliases for TMC4 Gene

Aliases for TMC4 Gene

  • Transmembrane Channel Like 4 2 3 5
  • Transmembrane Channel-Like Protein 4 3 4
  • Testicular Tissue Protein Li 204 3
  • TMC4 5

External Ids for TMC4 Gene

Previous GeneCards Identifiers for TMC4 Gene

  • GC19M059339
  • GC19M059355
  • GC19M054663
  • GC19M050980

Summaries for TMC4 Gene

GeneCards Summary for TMC4 Gene

TMC4 (Transmembrane Channel Like 4) is a Protein Coding gene. Diseases associated with TMC4 include Epidermodysplasia Verruciformis 1 and Bardet-Biedl Syndrome 1. An important paralog of this gene is TMC7.

UniProtKB/Swiss-Prot Summary for TMC4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMC4 Gene

Genomics for TMC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMC4 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
GH19J054172 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 303.5 +0.4 432 2 IKZF1 ZIC2 ETS1 ZEB1 SIN3A ZNF217 THAP11 ELF1 POLR2A CTCF TMC4 HSALNG0127481 LOC112268246 lnc-MBOAT7-2 LENG1 MBOAT7
GH19J054164 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 278.8 +8.6 8642 0.8 REST PKNOX1 ZNF384 TAF1 SP1 NRF1 KLF1 SP3 KDM1A ZBTB33 TMC4 lnc-LENG1-1 LENG1 LOC112268246
GH19J054158 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 36.8 +12.4 12449 5.2 SP1 ZNF207 MYC ZNF580 POLR2A ZSCAN16 ZBTB10 YY1 MXD4 CTCF LENG1 lnc-TMC4-1 CNOT3 PRPF31 LENG8-AS1 TMC4 LENG8 ZNF765 ENSG00000269001 ZNF845
GH19J054136 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 36.1 +35.5 35513 5.1 SP1 ZNF207 MYC IKZF1 ZNF600 POLR2A ZIC2 YY1 NONO CTCF CNOT3 HSALNG0127476 lnc-TFPT-3 TMC4 ZNF765 LENG8-AS1 PRPF31 ZNF525 ZNF845 LENG8
GH19J054168 Promoter/Enhancer 1.1 Ensembl ENCODE 31.2 +4.7 4662 0.4 IKZF1 CTCF REST TRIM22 MNT SIN3A ELF1 KLF9 RAD21 SMC3 CNOT3 LENG8 TMC4 LENG8-AS1 PRPF31 ENSG00000269001 ZNF845 ZNF525 ENSG00000235681 TPM3P6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMC4

Top Transcription factor binding sites by QIAGEN in the TMC4 gene promoter:
  • c-Ets-1
  • C/EBPbeta
  • Egr-3
  • NF-1
  • NF-AT
  • NF-AT1
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • XBP-1

Genomic Locations for TMC4 Gene

Latest Assembly
13,156 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
13,009 bases
Minus strand

(GRCh37/hg19 by Ensembl)
13,099 bases
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr19(ALT_REF_LOCI_1):134,958-147,932 (-)
  • chr19(ALT_REF_LOCI_2):134,959-147,968 (-)
  • chr19(ALT_REF_LOCI_3):134,959-147,968 (-)
  • chr19(ALT_REF_LOCI_4):134,959-147,968 (-)
  • chr19(ALT_REF_LOCI_5):134,959-147,968 (-)
  • chr19(ALT_REF_LOCI_6):134,959-147,968 (-)
  • chr19(ALT_REF_LOCI_7):134,959-147,938 (-)
  • chr19(ALT_REF_LOCI_8):134,959-147,968 (-)
  • chr19(ALT_REF_LOCI_9):134,959-147,968 (-)

Genomic View for TMC4 Gene

Genes around TMC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC4 Gene

Proteins for TMC4 Gene

  • Protein details for TMC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane channel-like protein 4
    Protein Accession:
    Secondary Accessions:
    • Q7Z5M3
    • Q8N5E4
    • Q8TBS7

    Protein attributes for TMC4 Gene

    712 amino acids
    Molecular mass:
    79208 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMC4 Gene


neXtProt entry for TMC4 Gene

Post-translational modifications for TMC4 Gene

  • Glycosylation at Asn107
  • Modification sites at PhosphoSitePlus

Other Protein References for TMC4 Gene

No data available for DME Specific Peptides for TMC4 Gene

Domains & Families for TMC4 Gene

Gene Families for TMC4 Gene

Protein Domains for TMC4 Gene

  • TMC

Suggested Antigen Peptide Sequences for TMC4 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane channel-like 4 (A9C4B3_HUMAN)
  • Transmembrane channel-like 4 (A9C4B4_HUMAN)
  • Transmembrane channel-like 4 (B0V3I3_HUMAN)
  • Transmembrane channel-like 4 (B0V3I4_HUMAN)
  • Transmembrane channel-like protein 4 (TMC4_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 TMC4: view

Function for TMC4 Gene

Molecular function for TMC4 Gene

UniProtKB/Swiss-Prot Function:
Probable ion channel.

Phenotypes From GWAS Catalog for TMC4 Gene

Gene Ontology (GO) - Molecular Function for TMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008381 mechanosensitive ion channel activity IBA 21873635
genes like me logo Genes that share ontologies with TMC4: view
genes like me logo Genes that share phenotypes with TMC4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMC4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TMC4 Gene

Localization for TMC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMC4 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 TMC4 gene
Compartment Confidence
plasma membrane 4
extracellular 4
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMC4 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 TMC4: view

Pathways & Interactions for TMC4 Gene

PathCards logo

SuperPathways for TMC4 Gene

No Data Available

Interacting Proteins for TMC4 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q7Z404-TMC4_HUMAN ENSP00000477627 for TMC4 Gene via UniProtKB STRING IID

Gene Ontology (GO) - Biological Process for TMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMC4: view

No data available for Pathways by source and SIGNOR curated interactions for TMC4 Gene

Drugs & Compounds for TMC4 Gene

No Compound Related Data Available

Transcripts for TMC4 Gene

mRNA/cDNA for TMC4 Gene

11 NCBI additional mRNA sequence :
10 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 TMC4

Alternative Splicing Database (ASD) splice patterns (SP) for TMC4 Gene

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

ExUns: 14a · 14b · 14c

Relevant External Links for TMC4 Gene

GeneLoc Exon Structure for

Expression for TMC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMC4 Gene

This gene is overexpressed in Colon - Transverse (x6.9) and Pancreas (x5.5).

Protein differential expression in normal tissues from HIPED for TMC4 Gene

This gene is overexpressed in Nasal epithelium (63.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMC4 Gene

Protein tissue co-expression partners for TMC4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMC4

SOURCE GeneReport for Unigene cluster for TMC4 Gene:


Evidence on tissue expression from TISSUES for TMC4 Gene

  • Intestine(4.3)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with TMC4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMC4 Gene

Orthologs for TMC4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMC4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMC4 29 30
  • 99.16 (n)
(Canis familiaris)
Mammalia TMC4 29 30
  • 83.47 (n)
(Bos Taurus)
Mammalia TMC4 30
  • 81 (a)
(Mus musculus)
Mammalia Tmc4 29 16 30
  • 79.7 (n)
(Monodelphis domestica)
Mammalia TMC4 30
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia TMC4 30
  • 57 (a)
(Anolis carolinensis)
Reptilia TMC4 30
  • 41 (a)
(Danio rerio)
Actinopterygii tmc4 30
  • 36 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 31 (a)
Species where no ortholog for TMC4 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 TMC4 Gene

Gene Tree for TMC4 (if available)
Gene Tree for TMC4 (if available)
Evolutionary constrained regions (ECRs) for TMC4: view image
Alliance of Genome Resources:
Additional Orthologs for TMC4

Paralogs for TMC4 Gene

Paralogs for TMC4 Gene

(2) SIMAP similar genes for TMC4 Gene using alignment to 3 proteins:

  • H7C039_HUMAN Pseudogenes for TMC4 Gene

genes like me logo Genes that share paralogs with TMC4: view

Variants for TMC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMC4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs36657 -- p.Gln689Glu
rs641738 -- p.Gly17Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMC4 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 TMC4 Gene

Variant ID Type Subtype PubMed ID
esv2718812 CNV deletion 23290073
esv2718857 CNV deletion 23290073
esv2758771 CNV gain+loss 17122850
nsv1072898 CNV deletion 25765185
nsv428371 CNV gain+loss 18775914
nsv510774 CNV deletion 20534489
nsv515623 CNV loss 19592680
nsv953613 CNV deletion 24416366
nsv9751 CNV gain 18304495

Variation tolerance for TMC4 Gene

Residual Variation Intolerance Score: 32.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.76; 91.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMC4 Gene

Disorders for TMC4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMC4 Gene - From: COP

Disorder Aliases PubMed IDs
epidermodysplasia verruciformis 1
  • epidermodysplasia verruciformis, susceptibility to, 1
bardet-biedl syndrome 1
  • bbs1
- elite association - COSMIC cancer census association via MalaCards
Search TMC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMC4

genes like me logo Genes that share disorders with TMC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMC4 Gene

Publications for TMC4 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 22
  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. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. (PMID: 30631154) Hu Q … Yang L (Cell research 2019) 3
  5. Lack of evidence supporting a role of TMC4-rs641738 missense variant-MBOAT7- intergenic downstream variant-in the Susceptibility to Nonalcoholic Fatty Liver Disease. (PMID: 29572551) Sookoian S … Pirola CJ (Scientific reports 2018) 3

Products for TMC4 Gene

Sources for TMC4 Gene