This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011] See more...

Aliases for TTC22 Gene

Aliases for TTC22 Gene

  • Tetratricopeptide Repeat Domain 22 2 3 5
  • Tetratricopeptide Repeat Protein 22 3 4
  • TPR Repeat Protein 22 3 4
  • FLJ20619 2
  • TTC22 5

External Ids for TTC22 Gene

Previous GeneCards Identifiers for TTC22 Gene

  • GC01M054963
  • GC01M055022
  • GC01M055246
  • GC01M053360

Summaries for TTC22 Gene

Entrez Gene Summary for TTC22 Gene

  • This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

GeneCards Summary for TTC22 Gene

TTC22 (Tetratricopeptide Repeat Domain 22) is a Protein Coding gene. Diseases associated with TTC22 include Dystonia 23 and Corneal Dystrophy, Posterior Polymorphous, 1.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTC22 Gene

Genomics for TTC22 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TTC22 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 TTC22 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTC22

Top Transcription factor binding sites by QIAGEN in the TTC22 gene promoter:
  • AML1a
  • CREB
  • NRSF form 1
  • NRSF form 2

Genomic Locations for TTC22 Gene

Latest Assembly
chr1:54,779,696-54,802,379
(GRCh38/hg38)
Size:
22,684 bases
Orientation:
Minus strand

Previous Assembly
chr1:55,245,385-55,266,996
(GRCh37/hg19 by Entrez Gene)
Size:
21,612 bases
Orientation:
Minus strand

chr1:55,245,385-55,266,940
(GRCh37/hg19 by Ensembl)
Size:
21,556 bases
Orientation:
Minus strand

Genomic View for TTC22 Gene

Genes around TTC22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC22 Gene

Proteins for TTC22 Gene

  • Protein details for TTC22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TAA0-TTC22_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 22
    Protein Accession:
    Q5TAA0
    Secondary Accessions:
    • Q9NWT4

    Protein attributes for TTC22 Gene

    Size:
    569 amino acids
    Molecular mass:
    63361 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TTC22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC22 Gene

Post-translational modifications for TTC22 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTC22 Gene

No data available for DME Specific Peptides for TTC22 Gene

Domains & Families for TTC22 Gene

Gene Families for TTC22 Gene

Protein Domains for TTC22 Gene

Suggested Antigen Peptide Sequences for TTC22 Gene

GenScript: Design optimal peptide antigens:
  • Tetratricopeptide repeat domain 22 (Q5TAA1_HUMAN)
  • Tetratricopeptide repeat protein 22 (TTC22_HUMAN)
genes like me logo Genes that share domains with TTC22: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TTC22 Gene

Function for TTC22 Gene

Phenotypes From GWAS Catalog for TTC22 Gene

Gene Ontology (GO) - Molecular Function for TTC22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with TTC22: view
genes like me logo Genes that share phenotypes with TTC22: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC22

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC22 Gene

Localization for TTC22 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 TTC22 gene
Compartment Confidence
nucleus 2
cytosol 2

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 TTC22 Gene

Pathways & Interactions for TTC22 Gene

PathCards logo

SuperPathways for TTC22 Gene

No Data Available

Interacting Proteins for TTC22 Gene

Gene Ontology (GO) - Biological Process for TTC22 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TTC22 Gene

Drugs & Compounds for TTC22 Gene

No Compound Related Data Available

Transcripts for TTC22 Gene

mRNA/cDNA for TTC22 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC22

Alternative Splicing Database (ASD) splice patterns (SP) for TTC22 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b
SP1: - -
SP2: - -
SP3:

Relevant External Links for TTC22 Gene

GeneLoc Exon Structure for
TTC22

Expression for TTC22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTC22 Gene

mRNA differential expression in normal tissues according to GTEx for TTC22 Gene

This gene is overexpressed in Esophagus - Mucosa (x16.2) and Vagina (x6.2).

Protein differential expression in normal tissues from HIPED for TTC22 Gene

This gene is overexpressed in Cervix (65.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TTC22 Gene



Protein tissue co-expression partners for TTC22 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTC22

SOURCE GeneReport for Unigene cluster for TTC22 Gene:

Hs.16230
genes like me logo Genes that share expression patterns with TTC22: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC22 Gene

Orthologs for TTC22 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TTC22 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TTC22 29 30
  • 99.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TTC22 29 30
  • 90.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TTC22 29 30
  • 88.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ttc22 29 16 30
  • 84.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ttc22 29
  • 83.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia TTC22 30
  • 67 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TTC22 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ttc22 29
  • 56.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii ttc22 29 30
  • 56.11 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToOne
Species where no ortholog for TTC22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 TTC22 Gene

ENSEMBL:
Gene Tree for TTC22 (if available)
TreeFam:
Gene Tree for TTC22 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTC22: view image
Alliance of Genome Resources:
Additional Orthologs for TTC22

Paralogs for TTC22 Gene

Pseudogenes.org Pseudogenes for TTC22 Gene

genes like me logo Genes that share paralogs with TTC22: view

No data available for Paralogs for TTC22 Gene

Variants for TTC22 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTC22 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs671108 -- p.Leu14Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTC22 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TTC22 Gene

Variant ID Type Subtype PubMed ID
dgv166n100 CNV gain 25217958
dgv38e212 CNV gain 25503493
nsv1000673 CNV gain 25217958
nsv461561 CNV gain 19166990
nsv546266 CNV gain 21841781
nsv546300 CNV loss 21841781
nsv817614 CNV gain 22305530

Variation tolerance for TTC22 Gene

Gene Damage Index Score: 12.07; 93.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTC22 Gene

Human Gene Mutation Database (HGMD)
TTC22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC22
Leiden Open Variation Database (LOVD)
TTC22

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC22 Gene

Disorders for TTC22 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TTC22 Gene - From: COP

Disorder Aliases PubMed IDs
dystonia 23
  • dyt23
corneal dystrophy, posterior polymorphous, 1
  • ppcd1
- elite association - COSMIC cancer census association via MalaCards
Search TTC22 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTC22

genes like me logo Genes that share disorders with TTC22: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTC22 Gene

Publications for TTC22 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  4. miR663a‑TTC22V1 axis inhibits colon cancer metastasis. (PMID: 30664167) Tian W … Deng D (Oncology reports 2019) 3
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3

Products for TTC22 Gene

Sources for TTC22 Gene