Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMC2 Gene

Aliases for TMC2 Gene

  • Transmembrane Channel Like 2 2 3 5
  • Transmembrane Cochlear-Expressed Protein 2 3 4
  • C20orf145 3 4
  • Transmembrane Cochlear-Expressed Gene 2 3
  • Transmembrane, Cochlear Expressed, 2 2
  • Transmembrane Channel-Like 2 3

External Ids for TMC2 Gene

Previous HGNC Symbols for TMC2 Gene

  • C20orf145

Previous GeneCards Identifiers for TMC2 Gene

  • GC20P002505
  • GC20P002512
  • GC20P002465

Summaries for TMC2 Gene

Entrez Gene Summary for TMC2 Gene

  • This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]

GeneCards Summary for TMC2 Gene

TMC2 (Transmembrane Channel Like 2) is a Protein Coding gene. Diseases associated with TMC2 include hearing loss/deafness and deafness, autosomal recessive 103. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is TMC4.

UniProtKB/Swiss-Prot for TMC2 Gene

  • Probable ion channel required for the normal function of cochlear hair cells.

Gene Wiki entry for TMC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMC2 Gene

Genomics for TMC2 Gene

Regulatory Elements for TMC2 Gene

Genomic Location for TMC2 Gene

Chromosome:
20
Start:
2,536,607 bp from pter
End:
2,641,869 bp from pter
Size:
105,263 bases
Orientation:
Plus strand

Genomic View for TMC2 Gene

Genes around TMC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC2 Gene

Proteins for TMC2 Gene

  • Protein details for TMC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDI7-TMC2_HUMAN
    Recommended name:
    Transmembrane channel-like protein 2
    Protein Accession:
    Q8TDI7
    Secondary Accessions:
    • Q5JXT0
    • Q5JXT1
    • Q6UWW4
    • Q6ZS41
    • Q8N9F3
    • Q9BYN2
    • Q9BYN3
    • Q9BYN4
    • Q9BYN5

    Protein attributes for TMC2 Gene

    Size:
    906 amino acids
    Molecular mass:
    102610 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88976.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04423.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMC2 Gene

Proteomics data for TMC2 Gene at MOPED

Post-translational modifications for TMC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMC2 Gene

Domains & Families for TMC2 Gene

Gene Families for TMC2 Gene

Protein Domains for TMC2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TMC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDI7

UniProtKB/Swiss-Prot:

TMC2_HUMAN :
  • Belongs to the TMC family.
Family:
  • Belongs to the TMC family.
genes like me logo Genes that share domains with TMC2: view

Function for TMC2 Gene

Molecular function for TMC2 Gene

UniProtKB/Swiss-Prot Function:
Probable ion channel required for the normal function of cochlear hair cells.
genes like me logo Genes that share phenotypes with TMC2: view

Animal Models for TMC2 Gene

MGI Knock Outs for TMC2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMC2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TMC2 Gene

Localization for TMC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMC2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMC2 Gene COMPARTMENTS Subcellular localization image for TMC2 gene
Compartment Confidence
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for TMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMC2: view

Pathways & Interactions for TMC2 Gene

SuperPathways for TMC2 Gene

No Data Available

Interacting Proteins for TMC2 Gene

Gene Ontology (GO) - Biological Process for TMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound IEA --
genes like me logo Genes that share ontologies with TMC2: view

No data available for Pathways by source and SIGNOR curated interactions for TMC2 Gene

Drugs & Compounds for TMC2 Gene

No Compound Related Data Available

Transcripts for TMC2 Gene

mRNA/cDNA for TMC2 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMC2 Gene

Transmembrane channel-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMC2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - -
SP2:
SP3:

Relevant External Links for TMC2 Gene

GeneLoc Exon Structure for
TMC2
ECgene alternative splicing isoforms for
TMC2

Expression for TMC2 Gene

mRNA expression in normal human tissues for TMC2 Gene

mRNA differential expression in normal tissues according to GTEx for TMC2 Gene

This gene is overexpressed in Brain - Cerebellum (x16.0), Brain - Cerebellar Hemisphere (x15.1), and Pituitary (x6.6).

Protein differential expression in normal tissues from HIPED for TMC2 Gene

This gene is overexpressed in Plasma (63.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMC2 Gene



SOURCE GeneReport for Unigene cluster for TMC2 Gene Hs.352626

mRNA Expression by UniProt/SwissProt for TMC2 Gene

Q8TDI7-TMC2_HUMAN
Tissue specificity: Detected in fetal cochlea.
genes like me logo Genes that share expression patterns with TMC2: view

Protein tissue co-expression partners for TMC2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TMC2 Gene

Orthologs for TMC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMC2 36
  • 99 (a)
OneToOne
TMC2 35
  • 99.04 (n)
  • 98.78 (a)
cow
(Bos Taurus)
Mammalia TMC2 36
  • 88 (a)
OneToOne
TMC2 35
  • 89.11 (n)
  • 87.71 (a)
dog
(Canis familiaris)
Mammalia TMC2 35
  • 89.51 (n)
  • 88.56 (a)
TMC2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmc2 16
Tmc2 35
  • 84.46 (n)
  • 83.52 (a)
Tmc2 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMC2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMC2 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmc2 35
  • 84.44 (n)
  • 83.07 (a)
chicken
(Gallus gallus)
Aves TMC2 35
  • 71.43 (n)
  • 73.24 (a)
TMC2 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMC2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490320 35
  • 65.39 (n)
  • 68.02 (a)
zebrafish
(Danio rerio)
Actinopterygii TMC2 (1 of 2) 36
  • 58 (a)
OneToMany
TMC2 (2 of 2) 36
  • 65 (a)
OneToMany
si:dkey-267i17.6 35
  • 62.51 (n)
  • 61.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3280 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0416.1 37
  • 34 (a)
T13G4.3 37
  • 37 (a)
tmc-1 36
  • 22 (a)
ManyToMany
tmc-2 36
  • 22 (a)
ManyToMany
Species with no ortholog for TMC2:
  • A. gosspyii yeast (Ashbya 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)
  • 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 TMC2 Gene

ENSEMBL:
Gene Tree for TMC2 (if available)
TreeFam:
Gene Tree for TMC2 (if available)

Paralogs for TMC2 Gene

Paralogs for TMC2 Gene

(2) SIMAP similar genes for TMC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TMC2: view

Variants for TMC2 Gene

Sequence variations from dbSNP and Humsavar for TMC2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs6050063 - 2,558,741(+) GAGGA(A/G)GGAGG reference, missense
VAR_030621 -, -
VAR_030622 -, -
rs11908093 - 2,572,238(+) CAAGC(A/G/T)ACTAT reference, missense
rs34884202 - 2,579,149(-) GACCC(A/G)TTTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TMC2 Gene

Variant ID Type Subtype PubMed ID
nsv470535 CNV Gain 18288195
esv28094 CNV Gain 19812545
esv32983 CNV Gain 17666407

Variation tolerance for TMC2 Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.31; 76.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMC2 Gene

HapMap Linkage Disequilibrium report
TMC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMC2 Gene

Disorders for TMC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMC2 Gene - From: GeneTests

Disorder Aliases PubMed IDs
hearing loss/deafness
deafness, autosomal recessive 103
  • deafness, autosomal recessive, 103
- elite association - COSMIC cancer census association via MalaCards
Search TMC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TMC2

Genetic Association Database (GAD)
TMC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMC2
genes like me logo Genes that share disorders with TMC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMC2 Gene

Publications for TMC2 Gene

  1. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. (PMID: 11850618) Kurima K. … Griffith A.J. (Nat. Genet. 2002) 2 3 4 23 67
  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) 2 3 23
  3. Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation. (PMID: 25074487) Kawashima Y. … Holt J.R. (Pflugers Arch. 2015) 3
  4. Conductance and block of hair-cell mechanotransducer channels in transmembrane channel-like protein mutants. (PMID: 24981230) Beurg M. … Fettiplace R. (J. Gen. Physiol. 2014) 3
  5. TMC function in hair cell transduction. (PMID: 24423408) Holt J.R. … Asai Y. (Hear. Res. 2014) 3

Products for TMC2 Gene

Sources for TMC2 Gene

Back to Top

Content