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Aliases for TTC25 Gene

Aliases for TTC25 Gene

  • Tetratricopeptide Repeat Domain 25 2 3 5
  • TPR Repeat Protein 25 4

External Ids for TTC25 Gene

Previous GeneCards Identifiers for TTC25 Gene

  • GC17P037341
  • GC17P040086
  • GC17P035848

Summaries for TTC25 Gene

Entrez Gene Summary for TTC25 Gene

  • This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]

GeneCards Summary for TTC25 Gene

TTC25 (Tetratricopeptide Repeat Domain 25) is a Protein Coding gene. Diseases associated with TTC25 include Primary Ciliary Dyskinesia 35 and Situs Inversus.

UniProtKB/Swiss-Prot for TTC25 Gene

  • Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility.

Gene Wiki entry for TTC25 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC25 Gene

Genomics for TTC25 Gene

Regulatory Elements for TTC25 Gene

Enhancers for TTC25 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
GH17G041674 2 FANTOM5 Ensembl ENCODE dbSUPER 13.7 -252.9 -252909 5.6 HNRNPUL1 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 SIN3A YBX1 ZNF2 ENSG00000267758 TTC25 DHX58 EIF1 HAP1 RAB5C KRT13 NKIRAS2 DNAJC7 GC17M041665
GH17G042392 1.2 ENCODE dbSUPER 13.6 +462.4 462376 0.9 HDGF ZNF493 ZFP64 YY1 ZNF302 ZNF202 JUNB REST TSHZ1 ZNF623 ENSG00000267340 ENSG00000267002 ENSG00000267765 ENSG00000259623 CNTNAP1 HMGN1P29 LOC108783654 TUBG2 KLHL10 HSD17B1
GH17G041026 1.1 Ensembl ENCODE 13.6 -903.4 -903408 1.2 ZNF493 ZNF121 ZNF138 FOS EGR2 ZNF202 ZNF680 ZBTB11 ZNF426 TSHZ1 ENSG00000259623 KLHL10 TMEM99 SNORD124 TTC25 KLHL11 MSL1 IGFBP4 KRTAP1-5 KRTAP1-4
GH17G041781 1.4 ENCODE dbSUPER 6.4 -146.0 -146033 6.8 CREB3L1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D ZNF610 GLIS1 JUP DHX58 ENSG00000267765 ENSG00000267758 HSD17B1 NT5C3B TTC25 TUBG2 HAP1
GH17G041798 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.5 -130.1 -130116 3.5 HDGF ARID4B SIN3A ZNF2 SLC30A9 ZNF143 DEK PAF1 ZNF263 SP3 JUP NT5C3B KLHL11 KLHL10 CNP TTC25 KRT19 KRT17 KRT15 KRT16
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTC25 on UCSC Golden Path with GeneCards custom track

Promoters for TTC25 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094306 -117 1401 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for TTC25 Gene

Chromosome:
17
Start:
41,930,617 bp from pter
End:
41,965,651 bp from pter
Size:
35,035 bases
Orientation:
Plus strand

Genomic View for TTC25 Gene

Genes around TTC25 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC25 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC25 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC25 Gene

Proteins for TTC25 Gene

  • Protein details for TTC25 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NG3-TTC25_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 25
    Protein Accession:
    Q96NG3
    Secondary Accessions:
    • Q6NX40
    • Q6PJ04
    • Q9H0K5

    Protein attributes for TTC25 Gene

    Size:
    672 amino acids
    Molecular mass:
    76655 Da
    Quaternary structure:
    • Interacts with CCDC114 (PubMed:27486780). Interacts with components of the IFT complex A, including IFT140, TTC21B/IFT139 and WDR19/IFT144, and the IFT complex B, including IFT46, IFT52 and IFT57 (PubMed:25860617).
    SequenceCaution:
    • Sequence=AAH67297.1; Type=Frameshift; Positions=661; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC25 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC25 Gene

Post-translational modifications for TTC25 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTC25 Gene

No data available for DME Specific Peptides for TTC25 Gene

Domains & Families for TTC25 Gene

Gene Families for TTC25 Gene

Protein Domains for TTC25 Gene

Suggested Antigen Peptide Sequences for TTC25 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TTC25: view

No data available for UniProtKB/Swiss-Prot for TTC25 Gene

Function for TTC25 Gene

Molecular function for TTC25 Gene

UniProtKB/Swiss-Prot Function:
Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility.

Gene Ontology (GO) - Molecular Function for TTC25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TTC25: view

Phenotypes for TTC25 Gene

genes like me logo Genes that share phenotypes with TTC25: view

Human Phenotype Ontology for TTC25 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TTC25 Gene

Localization for TTC25 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC25 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Gene Ontology (GO) - Cellular Components for TTC25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TTC25: view

No data available for Subcellular locations from COMPARTMENTS for TTC25 Gene

Pathways & Interactions for TTC25 Gene

SuperPathways for TTC25 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC25 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TTC25 Gene

Drugs & Compounds for TTC25 Gene

No Compound Related Data Available

Transcripts for TTC25 Gene

Unigene Clusters for TTC25 Gene

Tetratricopeptide repeat domain 25:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC25 Gene

No ASD Table

Relevant External Links for TTC25 Gene

GeneLoc Exon Structure for
TTC25
ECgene alternative splicing isoforms for
TTC25

Expression for TTC25 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTC25 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTC25 Gene

This gene is overexpressed in Testis (x18.0).

Protein differential expression in normal tissues from HIPED for TTC25 Gene

This gene is overexpressed in Testis (32.2), Frontal cortex (18.9), and Rectum (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTC25 Gene



NURSA nuclear receptor signaling pathways regulating expression of TTC25 Gene:

TTC25

SOURCE GeneReport for Unigene cluster for TTC25 Gene:

Hs.201134

mRNA Expression by UniProt/SwissProt for TTC25 Gene:

Q96NG3-TTC25_HUMAN
Tissue specificity: Expressed in the nasal mucosa (at protein level).
genes like me logo Genes that share expression patterns with TTC25: view

Primer Products

No data available for Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC25 Gene

Orthologs for TTC25 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC25 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC25 34
  • 97.97 (n)
dog
(Canis familiaris)
Mammalia TTC25 34
  • 83.86 (n)
rat
(Rattus norvegicus)
Mammalia Ttc25 34
  • 81.59 (n)
mouse
(Mus musculus)
Mammalia Ttc25 34 16
  • 81.43 (n)
cow
(Bos Taurus)
Mammalia TTC25 34
  • 81.42 (n)
chicken
(Gallus gallus)
Aves TTC25 34
  • 68.72 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc25 34
  • 66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1507 34
zebrafish
(Danio rerio)
Actinopterygii LOC100538088 34
  • 62.15 (n)
zgc56362 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7662 34
fruit fly
(Drosophila melanogaster)
Insecta CG13502 34
  • 49.77 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1274 34
Species where no ortholog for TTC25 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 TTC25 Gene

ENSEMBL:
Gene Tree for TTC25 (if available)
TreeFam:
Gene Tree for TTC25 (if available)

Paralogs for TTC25 Gene

No data available for Paralogs for TTC25 Gene

Variants for TTC25 Gene

Sequence variations from dbSNP and Humsavar for TTC25 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs886037888 Pathogenic 41,930,838(+) GCAAC(G/T)TGAGT upstream-variant-2KB, splice-donor-variant
rs886037889 Pathogenic 41,936,500(+) AACAA(-/T)AGGGG nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs1000039535 -- 41,957,889(+) AAGAG(A/G)TAAGT intron-variant
rs1000054335 -- 41,952,300(+) GAGGC(A/G)GAGGT intron-variant
rs1000387628 -- 41,945,241(+) AATTG(A/C)CTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC25 Gene

Variant ID Type Subtype PubMed ID
esv994529 CNV insertion 20482838
nsv1146669 OTHER inversion 26484159
nsv2056 CNV insertion 18451855
nsv509658 CNV insertion 20534489
nsv833447 CNV loss 17160897

Relevant External Links for TTC25 Gene

Human Gene Mutation Database (HGMD)
TTC25
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC25

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for TTC25 Gene

Disorders for TTC25 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TTC25 Gene - From: ClinVar and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia 35
  • cild35
situs inversus
  • complete transposition
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TTC25 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TTC25_HUMAN
  • Ciliary dyskinesia, primary, 35 (CILD35) [MIM:617092]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD35 inheritance is autosomal recessive. {ECO:0000269 PubMed:27486780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTC25

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC25
genes like me logo Genes that share disorders with TTC25: view

No data available for Genatlas for TTC25 Gene

Publications for TTC25 Gene

  1. TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. (PMID: 27486780) Wallmeier J. … Omran H. (Am. J. Hum. Genet. 2016) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64
  4. Characterization of tetratricopeptide repeat-containing proteins critical for cilia formation and function. (PMID: 25860617) Xu Y. … Yan X. (PLoS ONE 2015) 4 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for TTC25 Gene

Sources for TTC25 Gene

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