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Aliases for TMTC4 Gene

Aliases for TMTC4 Gene

  • Transmembrane And Tetratricopeptide Repeat Containing 4 2 3 5

External Ids for TMTC4 Gene

Previous GeneCards Identifiers for TMTC4 Gene

  • GC13M100055
  • GC13M101256
  • GC13M081852

Summaries for TMTC4 Gene

Entrez Gene Summary for TMTC4 Gene

  • This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]

GeneCards Summary for TMTC4 Gene

TMTC4 (Transmembrane And Tetratricopeptide Repeat Containing 4) is a Protein Coding gene. GO annotations related to this gene include identical protein binding. An important paralog of this gene is TMTC1.

Gene Wiki entry for TMTC4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMTC4 Gene

Genomics for TMTC4 Gene

Regulatory Elements for TMTC4 Gene

Enhancers for TMTC4 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
GH13G100672 1.3 ENCODE dbSUPER 29.7 +0.7 744 3.0 PKNOX1 SIN3A ARID4B ZNF143 ZNF207 FOS ZNF263 SP3 SP5 MXD4 TMTC4 GC13P100663
GH13G100644 0.6 dbSUPER 40.2 +25.7 25719 10.4 CTCF HLF ZNF426 MNT RAD21 ZNF366 SMARCA4 SMC3 MAFK HOMEZ TMTC4 GGACT COX5BP6 GC13P100660 PIR32013 GC13P100625
GH13G100608 1 Ensembl ENCODE 21.1 +65.5 65498 2.8 CTCF CBX3 ETV1 MAX FOSL1 ZNF316 GATA2 EGR1 POLR2A FOS TMTC4 GC13M100461 GC13M100582
GH13G100667 0.7 dbSUPER 28.2 +5.1 5116 5.5 SAP130 JUN ZNF384 EP300 RARA NR2F2 ZNF121 POLR2A NCOR1 SMARCA4 TMTC4 GC13P100663
GH13G100631 0.5 dbSUPER 37.3 +44.0 44046 0.5 CTCF TCF7 ZNF652 TMTC4 COX5BP6 GC13P100625 PIR32013 GC13P100660
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMTC4 on UCSC Golden Path with GeneCards custom track

Promoters for TMTC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000065222 293 2001 PKNOX1 SIN3A ARID4B ZNF143 FOS ZNF263 SP3 SP5 MXD4 NFYC

Genomic Location for TMTC4 Gene

Chromosome:
13
Start:
100,603,836 bp from pter
End:
100,675,093 bp from pter
Size:
71,258 bases
Orientation:
Minus strand

Genomic View for TMTC4 Gene

Genes around TMTC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMTC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMTC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMTC4 Gene

Proteins for TMTC4 Gene

  • Protein details for TMTC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T4D3-TMTC4_HUMAN
    Recommended name:
    Transmembrane and TPR repeat-containing protein 4
    Protein Accession:
    Q5T4D3
    Secondary Accessions:
    • A6NLI7
    • B7Z666
    • Q5T4D4
    • Q5T4D5
    • Q5T4D6
    • Q8WV63
    • Q96SU8

    Protein attributes for TMTC4 Gene

    Size:
    741 amino acids
    Molecular mass:
    82991 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH18707.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AK056409; Type=Frameshift; Positions=268; Evidence={ECO:0000305}; Sequence=BAB55179.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI11004.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI11005.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI11006.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TMTC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMTC4 Gene

Post-translational modifications for TMTC4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMTC4 Gene

Domains & Families for TMTC4 Gene

Gene Families for TMTC4 Gene

Protein Domains for TMTC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T4D3

UniProtKB/Swiss-Prot:

TMTC4_HUMAN :
  • Belongs to the TMTC family.
Family:
  • Belongs to the TMTC family.
genes like me logo Genes that share domains with TMTC4: view

Function for TMTC4 Gene

Phenotypes for TMTC4 Gene

genes like me logo Genes that share phenotypes with TMTC4: view

Animal Models for TMTC4 Gene

MGI Knock Outs for TMTC4:

Animal Model Products

CRISPR Products

miRNA for TMTC4 Gene

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMTC4 Gene

Localization for TMTC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMTC4 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 TMTC4 gene
Compartment Confidence
plasma membrane 3
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TMTC4 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 TMTC4: view

Pathways & Interactions for TMTC4 Gene

SuperPathways for TMTC4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMTC4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMTC4 Gene

Drugs & Compounds for TMTC4 Gene

No Compound Related Data Available

Transcripts for TMTC4 Gene

Unigene Clusters for TMTC4 Gene

Transmembrane and tetratricopeptide repeat containing 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMTC4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ·
SP1: - - - -
SP2: - - - - -
SP3: -
SP4:
SP5: - - -
SP6: - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10:
SP11:

ExUns: 18d ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TMTC4 Gene

GeneLoc Exon Structure for
TMTC4
ECgene alternative splicing isoforms for
TMTC4

Expression for TMTC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMTC4 Gene

Protein differential expression in normal tissues from HIPED for TMTC4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (54.8) and Retina (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMTC4 Gene



Protein tissue co-expression partners for TMTC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMTC4 Gene:

TMTC4

SOURCE GeneReport for Unigene cluster for TMTC4 Gene:

Hs.190983

Evidence on tissue expression from TISSUES for TMTC4 Gene

  • Nervous system(4.9)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with TMTC4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMTC4 Gene

Orthologs for TMTC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMTC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMTC4 34 35
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia TMTC4 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMTC4 34 35
  • 88.43 (n)
mouse
(Mus musculus)
Mammalia Tmtc4 34 16 35
  • 88.02 (n)
rat
(Rattus norvegicus)
Mammalia Tmtc4 34
  • 87.79 (n)
oppossum
(Monodelphis domestica)
Mammalia TMTC4 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMTC4 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMTC4 34 35
  • 77.55 (n)
lizard
(Anolis carolinensis)
Reptilia TMTC4 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmtc4 34
  • 71.33 (n)
zebrafish
(Danio rerio)
Actinopterygii tmtc4 34 35
  • 67.26 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG5038 34 35
  • 50.46 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003363 34
  • 48.68 (n)
worm
(Caenorhabditis elegans)
Secernentea F38B6.6 34 35
  • 48.34 (n)
Species where no ortholog for TMTC4 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 TMTC4 Gene

ENSEMBL:
Gene Tree for TMTC4 (if available)
TreeFam:
Gene Tree for TMTC4 (if available)

Paralogs for TMTC4 Gene

Paralogs for TMTC4 Gene

(3) SIMAP similar genes for TMTC4 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for TMTC4 Gene

genes like me logo Genes that share paralogs with TMTC4: view

Variants for TMTC4 Gene

Sequence variations from dbSNP and Humsavar for TMTC4 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs144940475 A breast cancer sample 100,612,442(+) GAACA(C/T)GAGAG reference, missense
rs587779382 Uncertain significance 100,636,542(-) ACGGC(C/T)ACAAG reference, missense
rs1000019729 -- 100,670,000(+) GTAAT(A/G)AAGGC intron-variant
rs1000037176 -- 100,655,091(+) ATCTC(A/G)GCTCA intron-variant
rs1000045000 -- 100,629,331(+) TAAGA(C/T)GGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMTC4 Gene

Variant ID Type Subtype PubMed ID
esv3550979 CNV deletion 23714750
nsv1037414 CNV loss 25217958
nsv1070608 CNV deletion 25765185
nsv1113596 CNV deletion 24896259
nsv1126351 CNV deletion 24896259
nsv522365 CNV loss 19592680
nsv7247 OTHER inversion 18451855

Variation tolerance for TMTC4 Gene

Residual Variation Intolerance Score: 8.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMTC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMTC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMTC4 Gene

Disorders for TMTC4 Gene

Relevant External Links for TMTC4

Genetic Association Database (GAD)
TMTC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMTC4

No disorders were found for TMTC4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMTC4 Gene

Publications for TMTC4 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Structural and functional discussion of the tetra-trico-peptide repeat, a protein interaction module. (PMID: 22404999) Zeytuni N. … Zarivach R. (Structure 2012) 3 64

Products for TMTC4 Gene

Sources for TMTC4 Gene

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