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Aliases for TMC3 Gene

Aliases for TMC3 Gene

  • Transmembrane Channel Like 3 2 3 5

External Ids for TMC3 Gene

Previous GeneCards Identifiers for TMC3 Gene

  • GC15M079192
  • GC15M079339
  • GC15M079410
  • GC15M081624
  • GC15M058383

Summaries for TMC3 Gene

GeneCards Summary for TMC3 Gene

TMC3 (Transmembrane Channel Like 3) is a Protein Coding gene. Diseases associated with TMC3 include Epidermodysplasia Verruciformis and Deafness, Autosomal Recessive 48. An important paralog of this gene is TMC2.

UniProtKB/Swiss-Prot for TMC3 Gene

  • Probable ion channel.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMC3 Gene

Genomics for TMC3 Gene

Regulatory Elements for TMC3 Gene

Enhancers for TMC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G081337 1.4 Ensembl ENCODE dbSUPER 19.4 +35.9 35915 2.2 PKNOX1 INSM2 SIN3A FEZF1 ZNF366 SCRT2 FOS ZNF263 ZNF362 YY2 TMC3 TMC3-AS1 STARD5 ENSG00000273920
GH15G081310 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +60.6 60638 6.1 PKNOX1 NFIB WRNIP1 SIN3A NFXL1 FEZF1 ZNF335 ZNF366 RELB FOS TLNRD1 TMC3 ENSG00000271725 STARD5 IL16 PIR43838 GC15P081312
GH15G081291 1.6 FANTOM5 ENCODE dbSUPER 10.8 +75.8 75832 14.7 HDGF PKNOX1 WRNIP1 SIN3A YY1 GATA2 ELK1 ZNF143 ZNF207 FOS TLNRD1 STARD5 IL16 TMC3 ENSG00000271725 PIR53519 PIR47037
GH15G081284 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +87.4 87357 5.1 HDGF ARID3A POLR2A WRNIP1 NR2F2 TLNRD1 STARD5 TMC3 ENSG00000271725 IL16 PIR39910 GC15P081268
GH15G081266 1.1 Ensembl ENCODE 10.8 +108.0 108039 1.1 HDAC1 TBP ATF1 RB1 CREB3L1 ARNT KLF17 DMAP1 ZNF2 RAD21 MESD TMC3 IL16 GC15P081268 GC15M081220
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMC3 Gene

Chromosome:
15
Start:
81,331,217 bp from pter
End:
81,374,213 bp from pter
Size:
42,997 bases
Orientation:
Minus strand

Genomic View for TMC3 Gene

Genes around TMC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC3 Gene

Proteins for TMC3 Gene

  • Protein details for TMC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5M5-TMC3_HUMAN
    Recommended name:
    Transmembrane channel-like protein 3
    Protein Accession:
    Q7Z5M5
    Secondary Accessions:
    • A2RTY2
    • B2RXJ3
    • Q7Z405

    Protein attributes for TMC3 Gene

    Size:
    1100 amino acids
    Molecular mass:
    125685 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAP78778.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Due to an insert of 27 undefined residues.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMC3 Gene

Post-translational modifications for TMC3 Gene

  • Glycosylation at isoforms=2264
  • Modification sites at PhosphoSitePlus

Other Protein References for TMC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMC3 Gene

Domains & Families for TMC3 Gene

Gene Families for TMC3 Gene

Protein Domains for TMC3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TMC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z5M5

UniProtKB/Swiss-Prot:

TMC3_HUMAN :
  • Belongs to the TMC family.
Family:
  • Belongs to the TMC family.
genes like me logo Genes that share domains with TMC3: view

Function for TMC3 Gene

Molecular function for TMC3 Gene

UniProtKB/Swiss-Prot Function:
Probable ion channel.
genes like me logo Genes that share phenotypes with TMC3: view

Animal Model Products

CRISPR Products

miRNA for TMC3 Gene

miRTarBase miRNAs that target TMC3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMC3 Gene

Localization for TMC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMC3 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 TMC3 gene
Compartment Confidence
plasma membrane 3
cytosol 3
cytoskeleton 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMC3: view

Pathways & Interactions for TMC3 Gene

No Data Available

Interacting Proteins for TMC3 Gene

Gene Ontology (GO) - Biological Process for TMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with TMC3: view

No data available for Pathways by source and SIGNOR curated interactions for TMC3 Gene

Transcripts for TMC3 Gene

mRNA/cDNA for TMC3 Gene

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

Unigene Clusters for TMC3 Gene

Transmembrane channel-like 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMC3 Gene

No ASD Table

Relevant External Links for TMC3 Gene

GeneLoc Exon Structure for
TMC3
ECgene alternative splicing isoforms for
TMC3

Expression for TMC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMC3 Gene:

TMC3

SOURCE GeneReport for Unigene cluster for TMC3 Gene:

Hs.253489

Evidence on tissue expression from TISSUES for TMC3 Gene

  • Heart(4)
  • Lung(4)
genes like me logo Genes that share expression patterns with TMC3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMC3 Gene

Orthologs for TMC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMC3 34 35
  • 98.91 (n)
cow
(Bos Taurus)
Mammalia TMC3 34 35
  • 84.36 (n)
dog
(Canis familiaris)
Mammalia TMC3 34 35
  • 84.24 (n)
rat
(Rattus norvegicus)
Mammalia Tmc3 34
  • 82.58 (n)
mouse
(Mus musculus)
Mammalia Tmc3 34 16 35
  • 82.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMC3 35
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMC3 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMC3 34 35
  • 70.1 (n)
lizard
(Anolis carolinensis)
Reptilia TMC3 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmc3 34
  • 65.65 (n)
zebrafish
(Danio rerio)
Actinopterygii TMC3 35
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3280 35
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tmc-2 35
  • 28 (a)
ManyToMany
tmc-1 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToOne
Species where no ortholog for TMC3 was found in the sources mined by GeneCards:
  • 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 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 TMC3 Gene

ENSEMBL:
Gene Tree for TMC3 (if available)
TreeFam:
Gene Tree for TMC3 (if available)

Paralogs for TMC3 Gene

Paralogs for TMC3 Gene

(2) SIMAP similar genes for TMC3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TMC3: view

Variants for TMC3 Gene

Sequence variations from dbSNP and Humsavar for TMC3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs150843673 Benign 81,332,588(+) CTGCC(A/G/T)ACACG intron-variant, reference, stop-gained
rs1000003947 -- 81,341,124(+) CATTT(A/G)CGATT intron-variant
rs1000085876 -- 81,351,166(+) TTTGA(A/C)TCAAA intron-variant
rs1000174733 -- 81,335,546(+) TGTAG(A/G)CTTCT intron-variant
rs1000177469 -- 81,338,216(+) TTTGC(A/G)GTCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMC3 Gene

Variant ID Type Subtype PubMed ID
nsv1048106 CNV gain 25217958
nsv1048788 CNV loss 25217958
nsv1054305 CNV gain 25217958
nsv1108970 CNV deletion 24896259
nsv520339 CNV loss 19592680

Variation tolerance for TMC3 Gene

Residual Variation Intolerance Score: 92.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.98; 84.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMC3 Gene

Human Gene Mutation Database (HGMD)
TMC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMC3 Gene

Disorders for TMC3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMC3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epidermodysplasia verruciformis
  • lewandowsky-lutz syndrome
deafness, autosomal recessive 48
  • autosomal recessive nonsyndromic deafness 48
- elite association - COSMIC cancer census association via MalaCards
Search TMC3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TMC3

Genetic Association Database (GAD)
TMC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMC3
genes like me logo Genes that share disorders with TMC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMC3 Gene

Publications for TMC3 Gene

  1. 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 4 22 64
  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 64
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64
  4. Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function. (PMID: 24983941) Tang W. … Cassano P.A. (PLoS ONE 2014) 3 64
  5. 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 64

Products for TMC3 Gene

Sources for TMC3 Gene

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