This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat fa... See more...

Aliases for TTC4 Gene

Aliases for TTC4 Gene

  • Tetratricopeptide Repeat Domain 4 2 3 5
  • Tetratricopeptide Repeat Protein 4 3 4
  • TPR Repeat Protein 4 3 4
  • CNS1 3

External Ids for TTC4 Gene

Previous GeneCards Identifiers for TTC4 Gene

  • GC01P055018
  • GC01P054008
  • GC01P054466
  • GC01P054551
  • GC01P054893
  • GC01P055181
  • GC01P053295

Summaries for TTC4 Gene

Entrez Gene Summary for TTC4 Gene

  • This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]

GeneCards Summary for TTC4 Gene

TTC4 (Tetratricopeptide Repeat Domain 4) is a Protein Coding gene. Diseases associated with TTC4 include Sporadic Breast Cancer and N Syndrome. An important paralog of this gene is TTC12.

Gene Wiki entry for TTC4 Gene

Additional gene information for TTC4 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTC4 Gene

Genomics for TTC4 Gene

GeneHancer (GH) Regulatory Elements for TTC4 Gene

Promoters and enhancers for TTC4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTC4 gene promoter:
  • Bach2
  • Evi-1
  • FAC1
  • GATA-1
  • Lmo2
  • Pax-2
  • Pax-2a
  • POU2F1
  • POU2F1a
  • SEF-1 (1)

Genomic Locations for TTC4 Gene

Genomic Locations for TTC4 Gene
chr1:54,715,822-54,742,657
(GRCh38/hg38)
Size:
26,836 bases
Orientation:
Plus strand
chr1:55,181,495-55,208,330
(GRCh37/hg19)
Size:
26,836 bases
Orientation:
Plus strand

Genomic View for TTC4 Gene

Genes around TTC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC4 Gene

Proteins for TTC4 Gene

  • Protein details for TTC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95801-TTC4_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 4
    Protein Accession:
    O95801
    Secondary Accessions:
    • Q53Y95
    • Q5TA96
    • Q9H3I2

    Protein attributes for TTC4 Gene

    Size:
    387 amino acids
    Molecular mass:
    44679 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD19853.1; Type=Frameshift; Positions=322; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TTC4 Gene

neXtProt entry for TTC4 Gene

Post-translational modifications for TTC4 Gene

  • Ubiquitination at Lys227
  • Modification sites at PhosphoSitePlus

Other Protein References for TTC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TTC4 Gene

Domains & Families for TTC4 Gene

Gene Families for TTC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TTC4 Gene

Suggested Antigen Peptide Sequences for TTC4 Gene

GenScript: Design optimal peptide antigens:
  • Tetratricopeptide repeat protein 4 (TTC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95801

UniProtKB/Swiss-Prot:

TTC4_HUMAN :
  • Belongs to the TTC4 family.
Family:
  • Belongs to the TTC4 family.
genes like me logo Genes that share domains with TTC4: view

Function for TTC4 Gene

Molecular function for TTC4 Gene

GENATLAS Biochemistry:
tetratricopeptide-repeat containing gene isoform 4,ubiquitously expressed,localized within critical region,deleted in sporadic breast cancer

Phenotypes From GWAS Catalog for TTC4 Gene

Gene Ontology (GO) - Molecular Function for TTC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18320024
genes like me logo Genes that share ontologies with TTC4: view
genes like me logo Genes that share phenotypes with TTC4: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC4 Gene

Localization for TTC4 Gene

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 TTC4 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for TTC4 Gene

Pathways & Interactions for TTC4 Gene

PathCards logo

SuperPathways for TTC4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TTC4 Gene

Drugs & Compounds for TTC4 Gene

No Compound Related Data Available

Transcripts for TTC4 Gene

mRNA/cDNA for TTC4 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC4 Gene

No ASD Table

Relevant External Links for TTC4 Gene

GeneLoc Exon Structure for
TTC4
ECgene alternative splicing isoforms for
TTC4

Expression for TTC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTC4 Gene

Protein differential expression in normal tissues from HIPED for TTC4 Gene

This gene is overexpressed in Testis (26.8), Peripheral blood mononuclear cells (14.5), Lymph node (6.6), and Fetal ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTC4 Gene



Protein tissue co-expression partners for TTC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTC4 Gene:

TTC4

SOURCE GeneReport for Unigene cluster for TTC4 Gene:

Hs.729029

Evidence on tissue expression from TISSUES for TTC4 Gene

  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with TTC4: view

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 TTC4 Gene

Orthologs for TTC4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TTC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC4 33 32
  • 99.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTC4 33 32
  • 88.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTC4 33 32
  • 88.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc4 17 33 32
  • 84.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTC4 33
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC4 33 32
  • 64.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC4 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc4 32
  • 64.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19066 32
zebrafish
(Danio rerio)
Actinopterygii ttc4 33 32
  • 62.52 (n)
OneToOne
zgc56411 32
fruit fly
(Drosophila melanogaster)
Insecta Dpit47 33 34 32
  • 44.63 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012044 32
  • 44.35 (n)
worm
(Caenorhabditis elegans)
Secernentea C17G10.2 33 34 32
  • 46.84 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B09966g 32
  • 44.69 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNS1 35 33 32
  • 43.12 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL268C 32
  • 42.97 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cns1 32
  • 44.68 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06340 32
  • 44.29 (n)
Species where no ortholog for TTC4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 TTC4 Gene

ENSEMBL:
Gene Tree for TTC4 (if available)
TreeFam:
Gene Tree for TTC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTC4: view image

Paralogs for TTC4 Gene

Pseudogenes.org Pseudogenes for TTC4 Gene

genes like me logo Genes that share paralogs with TTC4: view

Variants for TTC4 Gene

Sequence variations from dbSNP and Humsavar for TTC4 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1557751181 uncertain-significance, not provided 54,733,676(+) A/G coding_sequence_variant, intron_variant, missense_variant
rs1000162021 -- 54,730,026(+) A/G intron_variant
rs1000189006 -- 54,719,220(+) G/A intron_variant
rs1000235241 -- 54,732,455(+) T/G intron_variant
rs1000291350 -- 54,726,390(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TTC4 Gene

Variant ID Type Subtype PubMed ID
dgv166n100 CNV gain 25217958
dgv38e212 CNV gain 25503493
dgv90e59 CNV tandem duplication 20981092
esv3390763 CNV duplication 20981092
nsv1000673 CNV gain 25217958
nsv1004778 CNV gain 25217958
nsv461561 CNV gain 19166990
nsv461594 CNV gain 19166990
nsv546266 CNV gain 21841781
nsv546269 CNV gain 21841781
nsv817614 CNV gain 22305530
nsv829904 CNV loss 17160897

Variation tolerance for TTC4 Gene

Residual Variation Intolerance Score: 60.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTC4 Gene

Human Gene Mutation Database (HGMD)
TTC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC4 Gene

Disorders for TTC4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TTC4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sporadic breast cancer
  • sporadic breast carcinoma
n syndrome
  • nsx
hyperinsulinemic hypoglycemia, familial, 1
  • hhf1
central nervous system leukemia
  • leukemia of the cns
gliosarcoma
  • glioblastoma with sarcomatous component
- elite association - COSMIC cancer census association via MalaCards
Search TTC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTC4

genes like me logo Genes that share disorders with TTC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTC4 Gene

Publications for TTC4 Gene

  1. TTC4, a novel human gene containing the tetratricopeptide repeat and mapping to the region of chromosome 1p31 that is frequently deleted in sporadic breast cancer. (PMID: 9933562) Su G … Cowell JK (Genomics 1999) 2 3 4 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 56
  5. Mapping the Genetic Landscape of Human Cells. (PMID: 30033366) Horlbeck MA … Gilbert LA (Cell 2018) 3 56

Products for TTC4 Gene

Sources for TTC4 Gene