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Aliases for TTC7A Gene

Aliases for TTC7A Gene

  • Tetratricopeptide Repeat Domain 7A 2 3
  • TPR Repeat Protein 7A 3 4
  • TTC7 3 4
  • Tetratricopeptide Repeat Domain 7 2
  • KIAA1140 4
  • GIDID 3
  • MINAT 3

External Ids for TTC7A Gene

Previous HGNC Symbols for TTC7A Gene

  • TTC7

Previous GeneCards Identifiers for TTC7A Gene

  • GC02P047143
  • GC02P047079
  • GC02P047021

Summaries for TTC7A Gene

Entrez Gene Summary for TTC7A Gene

  • This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for TTC7A Gene

TTC7A (Tetratricopeptide Repeat Domain 7A) is a Protein Coding gene. Diseases associated with TTC7A include gastrointestinal defects and immunodeficiency syndrome and intestinal atresia. An important paralog of this gene is TTC7B.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC7A Gene

Genomics for TTC7A Gene

Regulatory Elements for TTC7A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TTC7A Gene

46,916,129 bp from pter
47,076,137 bp from pter
160,009 bases
Plus strand

Genomic View for TTC7A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTC7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC7A Gene

Proteins for TTC7A Gene

  • Protein details for TTC7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tetratricopeptide repeat protein 7A
    Protein Accession:
    Secondary Accessions:
    • Q2T9J9
    • Q6PIX4
    • Q8ND67
    • Q9BUS3

    Protein attributes for TTC7A Gene

    858 amino acids
    Molecular mass:
    96185 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA86454.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC7A Gene


neXtProt entry for TTC7A Gene

Proteomics data for TTC7A Gene at MOPED

Post-translational modifications for TTC7A Gene

  • Ubiquitination at Lys 157, Lys 172, Lys 758, Lys 765, and Lys 800
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTC7A Gene

Domains & Families for TTC7A Gene

Gene Families for TTC7A Gene

Protein Domains for TTC7A Gene

Suggested Antigen Peptide Sequences for TTC7A Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 9 TPR repeats.
  • Contains 9 TPR repeats.
genes like me logo Genes that share domains with TTC7A: view

Function for TTC7A Gene

Gene Ontology (GO) - Molecular Function for TTC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TTC7A: view
genes like me logo Genes that share phenotypes with TTC7A: view

Animal Model Products

CRISPR Products

miRNA for TTC7A Gene

miRTarBase miRNAs that target TTC7A

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TTC7A

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC7A Gene

Localization for TTC7A Gene

Subcellular locations from

Jensen Localization Image for TTC7A Gene COMPARTMENTS Subcellular localization image for TTC7A gene
Compartment Confidence
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TTC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with TTC7A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TTC7A Gene

Pathways & Interactions for TTC7A Gene

SuperPathways for TTC7A Gene

No Data Available

Interacting Proteins for TTC7A Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
Selected Interacting proteins: ENSP00000316699 for TTC7A Gene via STRING

Gene Ontology (GO) - Biological Process for TTC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis IEA --
GO:0030097 hemopoiesis IEA --
genes like me logo Genes that share ontologies with TTC7A: view

No data available for Pathways by source and SIGNOR curated interactions for TTC7A Gene

Drugs & Compounds for TTC7A Gene

No Compound Related Data Available

Transcripts for TTC7A Gene

mRNA/cDNA for TTC7A Gene

(9) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TTC7A Gene

Tetratricopeptide repeat domain 7A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TTC7A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC7A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - -
SP5: -
SP7: -

ExUns: 23 ^ 24a · 24b

Relevant External Links for TTC7A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TTC7A Gene

mRNA expression in normal human tissues for TTC7A Gene

Protein differential expression in normal tissues from HIPED for TTC7A Gene

This gene is overexpressed in Breast (40.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTC7A Gene

SOURCE GeneReport for Unigene cluster for TTC7A Gene Hs.370603

genes like me logo Genes that share expression patterns with TTC7A: view

Protein tissue co-expression partners for TTC7A Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TTC7A Gene

Orthologs for TTC7A Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC7A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TTC7A 35
  • 90.13 (n)
  • 93.01 (a)
TTC7A 36
  • 93 (a)
(Canis familiaris)
Mammalia TTC7A 35
  • 90.09 (n)
  • 93.95 (a)
TTC7A 36
  • 94 (a)
(Mus musculus)
Mammalia Ttc7 35
  • 86.89 (n)
  • 88.45 (a)
Ttc7 16
Ttc7 36
  • 88 (a)
(Pan troglodytes)
Mammalia TTC7A 35
  • 99.61 (n)
  • 99.53 (a)
TTC7A 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ttc7a 35
  • 87.13 (n)
  • 88.45 (a)
(Monodelphis domestica)
Mammalia TTC7A 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia TTC7A 36
  • 72 (a)
(Gallus gallus)
Aves TTC7A 35
  • 69.72 (n)
  • 73.06 (a)
TTC7A 36
  • 72 (a)
(Anolis carolinensis)
Reptilia TTC7A 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc7a 35
  • 68.23 (n)
  • 68.23 (a)
(Danio rerio)
Actinopterygii ttc7a 35
  • 59.66 (n)
  • 54.57 (a)
ttc7a 36
  • 51 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)k14710 36
  • 33 (a)
(Caenorhabditis elegans)
Secernentea Y39A3CR.3 36
  • 22 (a)
Species with no ortholog for TTC7A:
  • A. gosspyii yeast (Ashbya 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)
  • 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 TTC7A Gene

Gene Tree for TTC7A (if available)
Gene Tree for TTC7A (if available)

Paralogs for TTC7A Gene

Paralogs for TTC7A Gene

genes like me logo Genes that share paralogs with TTC7A: view

Variants for TTC7A Gene

Sequence variations from dbSNP and Humsavar for TTC7A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs734269 -- 47,038,021(+) cgagg(C/T)gggcg intron-variant
rs735887 -- 46,972,807(+) GCTGT(G/T)CTAGG intron-variant
rs735888 -- 46,972,886(+) TGGCC(A/G)GAGAT intron-variant
rs736147 -- 47,069,245(-) GACGA(A/G)CCTCC intron-variant
rs736148 -- 47,069,242(-) GAACC(A/T)CCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC7A Gene

Variant ID Type Subtype PubMed ID
nsv457352 CNV Loss 19166990
nsv524970 CNV Loss 19592680
esv1009804 CNV Deletion 20482838
nsv525197 CNV Loss 19592680
nsv517929 CNV Loss 19592680
nsv518312 CNV Loss 19592680
nsv519298 CNV Loss 19592680
nsv521400 CNV Loss 19592680
nsv519217 CNV Gain 19592680
nsv521030 CNV Loss 19592680
nsv525855 CNV Loss 19592680
nsv457363 CNV Loss 19166990
nsv528091 CNV Loss 19592680
esv1004687 CNV Gain 20482838
nsv873998 CNV Loss 21882294

Variation tolerance for TTC7A Gene

Residual Variation Intolerance Score: 58.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.41; 81.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC7A Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC7A Gene

Disorders for TTC7A Gene

MalaCards: The human disease database

(3) MalaCards diseases for TTC7A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gastrointestinal defects and immunodeficiency syndrome
  • multiple intestinal atresia
intestinal atresia
inflammatory bowel disease 25, early onset, autosomal recessive
  • inflammatory bowel disease 25, autosomal recessive
- elite association
Search TTC7A in MalaCards View complete list of genes associated with diseases


  • Gastrointestinal defects and immunodeficiency syndrome (GIDID) [MIM:243150]: A rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. {ECO:0000269 PubMed:23423984}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTC7A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TTC7A: view

No data available for Genatlas for TTC7A Gene

Publications for TTC7A Gene

  1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 67
  2. Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. (PMID: 25745186) Woutsas S. … Boztug K. (Blood 2015) 67
  3. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. (PMID: 25174867) Lemoine R. … de Saint Basile G. (J. Allergy Clin. Immunol. 2014) 67
  4. TTC7A mutations disrupt intestinal epithelial apicobasal polarity. (PMID: 24292712) Bigorgne A.E. … de Saint Basile G. (J. Clin. Invest. 2014) 67
  5. Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease. (PMID: 24417819) Avitzur Y. … Muise A.M. (Gastroenterology 2014) 67

Products for TTC7A Gene

Sources for TTC7A Gene

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