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Aliases for TMTC3 Gene

Aliases for TMTC3 Gene

  • Transmembrane And Tetratricopeptide Repeat Containing 3 2 3
  • Protein SMILE 4
  • SMILE 3

External Ids for TMTC3 Gene

Previous GeneCards Identifiers for TMTC3 Gene

  • GC12P087042
  • GC12P088536
  • GC12P085603

Summaries for TMTC3 Gene

Entrez Gene Summary for TMTC3 Gene

  • This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]

GeneCards Summary for TMTC3 Gene

TMTC3 (Transmembrane And Tetratricopeptide Repeat Containing 3) is a Protein Coding gene. An important paralog of this gene is TMTC2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMTC3 Gene

Genomics for TMTC3 Gene

Regulatory Elements for TMTC3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TMTC3 Gene

Chromosome:
12
Start:
88,142,296 bp from pter
End:
88,199,887 bp from pter
Size:
57,592 bases
Orientation:
Plus strand

Genomic View for TMTC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMTC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMTC3 Gene

Proteins for TMTC3 Gene

  • Protein details for TMTC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZXV5-TMTC3_HUMAN
    Recommended name:
    Transmembrane and TPR repeat-containing protein 3
    Protein Accession:
    Q6ZXV5
    Secondary Accessions:
    • Q5CZ86
    • Q5H9T6
    • Q68DQ6
    • Q68DX0
    • Q7Z332
    • Q8NC50

    Protein attributes for TMTC3 Gene

    Size:
    915 amino acids
    Molecular mass:
    104009 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11325.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TMTC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMTC3 Gene

Proteomics data for TMTC3 Gene at MOPED

Post-translational modifications for TMTC3 Gene

  • Ubiquitination at Lys 460 and Lys 738
  • Glycosylation at Asn 117, Asn 494, Asn 541, and Thr 844
  • Modification sites at PhosphoSitePlus

Other Protein References for TMTC3 Gene

No data available for DME Specific Peptides for TMTC3 Gene

Domains & Families for TMTC3 Gene

Gene Families for TMTC3 Gene

Protein Domains for TMTC3 Gene

Suggested Antigen Peptide Sequences for TMTC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZXV5

UniProtKB/Swiss-Prot:

TMTC3_HUMAN :
  • Belongs to the TMTC family.
  • Contains 10 TPR repeats.
Family:
  • Belongs to the TMTC family.
Similarity:
  • Contains 10 TPR repeats.
genes like me logo Genes that share domains with TMTC3: view

Function for TMTC3 Gene

Gene Ontology (GO) - Molecular Function for TMTC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMTC3: view
genes like me logo Genes that share phenotypes with TMTC3: view

Animal Model Products

miRNA for TMTC3 Gene

miRTarBase miRNAs that target TMTC3

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMTC3

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TMTC3 Gene

Localization for TMTC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMTC3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMTC3 Gene COMPARTMENTS Subcellular localization image for TMTC3 gene
Compartment Confidence
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for TMTC3 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 TMTC3: view

Pathways & Interactions for TMTC3 Gene

SuperPathways for TMTC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMTC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009791 post-embryonic development IEA --
GO:0010468 regulation of gene expression IEA --
GO:0030154 cell differentiation --
GO:0030324 lung development --
GO:0048286 lung alveolus development IEA --
genes like me logo Genes that share ontologies with TMTC3: view

No data available for Pathways by source and SIGNOR curated interactions for TMTC3 Gene

Drugs & Compounds for TMTC3 Gene

No Compound Related Data Available

Transcripts for TMTC3 Gene

Unigene Clusters for TMTC3 Gene

Transmembrane and tetratricopeptide repeat containing 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMTC3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMTC3 Gene

No ASD Table

Relevant External Links for TMTC3 Gene

GeneLoc Exon Structure for
TMTC3
ECgene alternative splicing isoforms for
TMTC3

Expression for TMTC3 Gene

mRNA expression in normal human tissues for TMTC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMTC3 Gene

This gene is overexpressed in Nasal epithelium (26.5), Breast (17.2), and Cervix (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMTC3 Gene



SOURCE GeneReport for Unigene cluster for TMTC3 Gene Hs.331268

genes like me logo Genes that share expression patterns with TMTC3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TMTC3 Gene

Orthologs for TMTC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMTC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMTC3 35
  • 92.38 (n)
  • 93.33 (a)
TMTC3 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMTC3 35
  • 93.29 (n)
  • 93.98 (a)
TMTC3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmtc3 35
  • 85.54 (n)
  • 90.58 (a)
Tmtc3 16
Tmtc3 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMTC3 35
  • 99.78 (n)
  • 99.89 (a)
TMTC3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmtc3 35
  • 86.67 (n)
  • 90.91 (a)
oppossum
(Monodelphis domestica)
Mammalia TMTC3 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMTC3 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMTC3 35
  • 78.44 (n)
  • 84.43 (a)
TMTC3 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMTC3 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10499 35
zebrafish
(Danio rerio)
Actinopterygii tmtc3 35
  • 66.45 (n)
  • 73.71 (a)
tmtc3 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010599 35
  • 56.36 (n)
  • 57.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4050 35
  • 53.84 (n)
  • 54.28 (a)
CG4050 36
  • 48 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToOne
Species with no ortholog for TMTC3:
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for TMTC3 Gene

ENSEMBL:
Gene Tree for TMTC3 (if available)
TreeFam:
Gene Tree for TMTC3 (if available)

Paralogs for TMTC3 Gene

Paralogs for TMTC3 Gene

(3) SIMAP similar genes for TMTC3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TMTC3: view

Variants for TMTC3 Gene

Sequence variations from dbSNP and Humsavar for TMTC3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1129136 -- 88,198,616(+) TTTAC(C/T)TTTAT utr-variant-3-prime
rs1129137 -- 88,198,910(+) CGCCA(A/G)CCATT utr-variant-3-prime
rs2468223 -- 88,144,858(+) ATATT(C/T)TTGAG intron-variant
rs2468224 -- 88,145,661(+) ATCTA(C/T)GTGTT intron-variant
rs2468225 -- 88,146,422(+) AAGCC(C/T)AAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMTC3 Gene

Variant ID Type Subtype PubMed ID
nsv899418 CNV Gain 21882294
nsv807 CNV Loss 18451855
esv272210 CNV Insertion 20981092
nsv826471 CNV Loss 20364138
nsv826472 CNV Gain 20364138

Variation tolerance for TMTC3 Gene

Residual Variation Intolerance Score: 11.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.91; 74.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMTC3 Gene

HapMap Linkage Disequilibrium report
TMTC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMTC3 Gene

Disorders for TMTC3 Gene

Relevant External Links for TMTC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMTC3
genes like me logo Genes that share disorders with TMTC3: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMTC3 Gene

Publications for TMTC3 Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein J.I. … Sullivan P.F. (Nat Commun 2014) 67
  5. mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development. (PMID: 21956870) Yun E.J. … Vu T.H. (Anat Rec (Hoboken) 2012) 67

Products for TMTC3 Gene

Sources for TMTC3 Gene

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