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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 Ciliary Dyskinesia, Primary, 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for TTC25 Gene

Promoters and enhancers for TTC25 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I041929 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.4 -357 2.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ACLY GC17M041929 TTC25 NT5C3B PLEKHH3 HSD17B1 ENSG00000259623 HSD17B1P1 CNTNAP1 TUBG2
GH17I041674 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13 -252.9 -252908 5.6 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT SIN3A YBX1 ZNF2 YY1 POLR2B ENSG00000267758 RETREG3 NKIRAS2 DHX58 TTC25 STAT5A ACLY STAT3 CAVIN1 LOC108783654
GH17I041781 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.4 -146.0 -146032 6.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZBTB7B YY1 POLR2B JUP KLHL10 ACLY ENSG00000267765 DHX58 KLHL11 ENSG00000267758 PLEKHH3 NT5C3B TTC25
GH17I041798 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.5 -130.1 -130116 3.5 HDGF CLOCK ARID4B SIN3A ZNF2 SLC30A9 ZNF213 ZNF143 DEK PAF1 JUP NT5C3B ENSG00000267758 KLHL11 KLHL10 RETREG3 STAT5A LOC108783654 CNP TTC25
GH17I041705 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -224.8 -224804 1.6 SOX13 FOXA2 ZNF384 ZFHX2 ZNF366 POLR2A CREM THAP11 EGR2 SOX5 HAP1 RN7SL399P FKBP10 P3H4 KLHL10 NT5C3B ENSG00000267765 ZNF385C TTC25 GAST
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTC25 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTC25 gene promoter:

Genomic Locations for TTC25 Gene

Genomic Locations for TTC25 Gene
chr17:41,930,617-41,965,651
(GRCh38/hg38)
Size:
35,035 bases
Orientation:
Plus strand
chr17:40,086,888-40,117,669
(GRCh37/hg19)

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

No Post-translational modifications

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for TTC25 Gene

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

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 and Subcellular locations from the Human Protein Atlas (HPA) 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:

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

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 33
  • 97.97 (n)
dog
(Canis familiaris)
Mammalia TTC25 33
  • 83.86 (n)
rat
(Rattus norvegicus)
Mammalia Ttc25 33
  • 81.59 (n)
mouse
(Mus musculus)
Mammalia Ttc25 33 16
  • 81.43 (n)
cow
(Bos Taurus)
Mammalia TTC25 33
  • 81.42 (n)
chicken
(Gallus gallus)
Aves TTC25 33
  • 68.72 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc25 33
  • 66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1507 33
zebrafish
(Danio rerio)
Actinopterygii LOC100538088 33
  • 62.15 (n)
zgc56362 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7662 33
fruit fly
(Drosophila melanogaster)
Insecta CG13502 33
  • 49.77 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1274 33
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 Variation AA Info Type
rs886037888 pathogenic, Ciliary dyskinesia, primary, 35 41,930,838(+) G/T splice_donor_variant
rs886037889 pathogenic, Ciliary dyskinesia, primary, 35 41,936,501(+) /T 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1000039535 -- 41,957,889(+) A/G intron_variant
rs1000054335 -- 41,952,300(+) G/A intron_variant
rs1000387628 -- 41,945,241(+) C/A/T 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

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 35
  • cild35
situs inversus
  • situs inversus viscerum
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.

Additional Disease Information for 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 (American journal of human genetics 2016) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Toward 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 research 2001) 3 4 58
  4. Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population. (PMID: 28513607) Vojinovic D … Amin N (European journal of human genetics : EJHG 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TTC25 Gene

Sources for TTC25 Gene

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