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Aliases for TMC5 Gene

Aliases for TMC5 Gene

  • Transmembrane Channel Like 5 2 3 5

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. An important paralog of this gene is TMC6.

UniProtKB/Swiss-Prot for TMC5 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 TMC5 Gene

Genomics for TMC5 Gene

Regulatory Elements for TMC5 Gene

Enhancers for TMC5 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
GH16G019381 0.9 ENCODE 34.6 -27.9 -27878 1.6 FOXA2 SIN3A FEZF1 GLIS2 FOS SMARCA4 NBN HMBOX1 HNF4A PRDM4 TMC5 SYT17 GDE1 GC16P019387 GC16P019371
GH16G019392 1.2 Ensembl ENCODE 15.2 -15.4 -15408 5.5 FEZF1 YY1 TCF12 FOS ZNF579 SMARCA4 STAT3 NBN HMBOX1 HNF4A TMC5 SYT17 RNU4-46P COQ7 ENSG00000280265 ENSG00000259925
GH16G019428 1.4 Ensembl ENCODE dbSUPER 12.5 +20.9 20880 5.2 HDAC1 ELF3 TBP FOXA2 YBX1 BMI1 ZBTB40 RAD21 YY1 ZNF366 TMC5 RNU4-46P COQ7 CCP110 ENSG00000259925 GC16P019423 GC16P019447
GH16G019384 0.9 ENCODE 17.9 -25.6 -25613 1.1 HDAC1 NFIB FEZF1 ZNF335 TCF12 FOS RCOR1 CEBPB ZEB2 NR2F2 TMC5 SYT17 KNOP1 GC16P019387 GC16P019371
GH16G019409 1.1 Ensembl ENCODE 14.6 +0.4 386 1.8 SIN3A ZNF2 RAD21 GTF3C2 ZNF121 GLIS2 SCRT2 DEK ZNF263 ZEB2 TMC5 SYT17 ENSG00000259925 KNOP1 ENSG00000260681
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMC5 on UCSC Golden Path with GeneCards custom track

Promoters for TMC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084166 378 601 SIN3A ZNF2 RAD21 ZNF121 GLIS2 SCRT2 DEK ZNF263 ZEB2 ZNF398

Genomic Location for TMC5 Gene

Chromosome:
16
Start:
19,410,496 bp from pter
End:
19,499,113 bp from pter
Size:
88,618 bases
Orientation:
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:
    Q6UXY8-TMC5_HUMAN
    Recommended name:
    Transmembrane channel-like protein 5
    Protein Accession:
    Q6UXY8
    Secondary Accessions:
    • Q68DK8
    • Q8IY20
    • Q8NHV6
    • Q9H8I7

    Protein attributes for TMC5 Gene

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

    Alternative splice isoforms for TMC5 Gene

    UniProtKB/Swiss-Prot:

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TMC5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UXY8

UniProtKB/Swiss-Prot:

TMC5_HUMAN :
  • Belongs to the TMC family.
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 for TMC5 Gene

genes like me logo Genes that share phenotypes with TMC5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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 TMC5 gene
Compartment Confidence
extracellular 5
plasma membrane 3
peroxisome 2
nucleus 2

Gene Ontology (GO) - Cellular Components for TMC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with TMC5: view

Pathways & Interactions 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 --
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

Unigene Clusters for TMC5 Gene

Transmembrane channel-like 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
TMC5
ECgene alternative splicing isoforms for
TMC5

Expression for TMC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of TMC5 Gene:

TMC5

SOURCE GeneReport for Unigene cluster for TMC5 Gene:

Hs.115838

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia TMC5 34 35
  • 98.94 (n)
dog
(Canis familiaris)
Mammalia TMC5 34 35
  • 85.19 (n)
cow
(Bos Taurus)
Mammalia TMC5 34 35
  • 84.41 (n)
mouse
(Mus musculus)
Mammalia Tmc5 34 16 35
  • 80.3 (n)
rat
(Rattus norvegicus)
Mammalia Tmc5 34
  • 79.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMC5 35
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMC5 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMC5 34 35
  • 60.06 (n)
lizard
(Anolis carolinensis)
Reptilia TMC5 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmc5 34
  • 57.48 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC561497 34
  • 57.63 (n)
TMC5 35
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000578 34
  • 45.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3280 35
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tmc-2 35
  • 13 (a)
ManyToMany
tmc-1 35
  • 11 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for TMC5 (if available)
TreeFam:
Gene Tree for TMC5 (if available)

Paralogs for TMC5 Gene

Paralogs for TMC5 Gene

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

genes like me logo Genes that share paralogs with TMC5: view

Variants for TMC5 Gene

Sequence variations from dbSNP and Humsavar for TMC5 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000076011 -- 19,448,653(+) TAATT(G/T)TTTAT intron-variant
rs1000150371 -- 19,425,349(+) TTTCC(C/T)GTGCA intron-variant
rs1000164080 -- 19,495,521(+) TTGTT(C/T)CTATG intron-variant
rs1000211259 -- 19,448,475(+) TTAGC(C/T)AGGCA intron-variant
rs1000220024 -- 19,475,515(+) GAGAT(A/C)CGGCT intron-variant

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)

Relevant External Links for TMC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMC5 Gene

Disorders for TMC5 Gene

Relevant External Links for TMC5

Genetic Association Database (GAD)
TMC5
Human Genome Epidemiology (HuGE) Navigator
TMC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMC5

No disorders were found for TMC5 Gene.

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

Publications for TMC5 Gene

  1. 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
  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 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PMID: 18649358) Ng D. … Taylor P.R. (Int. J. Cancer 2008) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TMC5 Gene

Sources for TMC5 Gene

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