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Aliases for TTC7A Gene

Aliases for TTC7A Gene

  • Tetratricopeptide Repeat Domain 7A 2 3 5
  • TPR Repeat Protein 7A 3 4
  • TTC7 3 4
  • Tetratricopeptide Repeat Protein 7A 3
  • 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.

UniProtKB/Swiss-Prot for TTC7A Gene

  • Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity).

Additional gene information for TTC7A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC7A Gene

Genomics for TTC7A Gene

GeneHancer (GH) Regulatory Elements for TTC7A Gene

Promoters and enhancers for TTC7A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I046939 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 564 +26.4 26446 6.9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 E2F8 ZNF263 MCFD2 TTC7A ENSG00000225187 ENSG00000228925 ENSG00000272814
GH02I046913 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.9 -907 4 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A MCFD2 GC02P046913 TTC7A ENSG00000228925
GH02I046917 Enhancer 0.7 ENCODE 550.8 +1.7 1668 0.2 MEIS2 LEF1 SMAD1 BACH1 BATF IRF4 FOXK2 NFATC1 ATF7 IKZF2 TTC7A MCFD2 GC02P046913 GC02M046933
GH02I046919 Enhancer 0.7 ENCODE 550.8 +1.5 1468 0.2 MEIS2 LEF1 BACH1 IRF4 FOXK2 NFATC1 IKZF2 RUNX3 CBFB TRIM22 TTC7A GC02P046913 GC02M046933 MCFD2
GH02I046963 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 42 +52.0 51986 9 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 SLC30A9 FOS TTC7A MCFD2 CALM2 MSH6 ENSG00000228925 RHOQ GC02M046968 PIR42793
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTC7A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTC7A gene promoter:

Genomic Locations for TTC7A Gene

Genomic Locations for TTC7A Gene
160,009 bases
Plus strand

Genomic View for TTC7A Gene

Genes around TTC7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:24417819). Interacts with PI4KA, interaction is direct (By similarity). Interacts with EFR3 (EFR3A or EFR3B), interaction is direct (By similarity). Interacts with FAM126 (FAM126A or FAM126B), interaction is direct (By similarity). Association with the PI4K complex is strongly reduced by TMEM150A (By similarity).
    • 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

Post-translational modifications for TTC7A Gene

  • Ubiquitination at isoforms=4157, isoforms=4172, posLast=758758, isoforms=4765, and posLast=800800
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTC7A Gene

Domains & Families for TTC7A Gene

Gene Families for TTC7A Gene

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

Protein Domains for TTC7A Gene

Suggested Antigen Peptide Sequences for TTC7A Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for TTC7A Gene

Function for TTC7A Gene

Molecular function for TTC7A Gene

UniProtKB/Swiss-Prot Function:
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity).

Phenotypes From GWAS Catalog for TTC7A Gene

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

Human Phenotype Ontology for TTC7A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TTC7A Gene

miRTarBase miRNAs that target TTC7A

Inhibitory RNA Products

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

Localization for TTC7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC7A Gene

Cytoplasm. Cell membrane. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with EFR3 (EFR3A or EFR3B). {ECO:0000250 UniProtKB:Q86TV6}.

Subcellular locations from

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 TTC7A gene
Compartment Confidence
plasma membrane 4
cytosol 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TTC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TTC7A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TTC7A Gene

Pathways & Interactions for TTC7A Gene

SuperPathways for TTC7A Gene

No Data Available

Interacting Proteins for TTC7A Gene

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 --
GO:0072659 protein localization to plasma membrane IDA 23229899
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

Unigene Clusters for TTC7A Gene

Tetratricopeptide repeat domain 7A:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TTC7A Gene

Protein tissue co-expression partners for TTC7A Gene

NURSA nuclear receptor signaling pathways regulating expression of TTC7A Gene:


SOURCE GeneReport for Unigene cluster for TTC7A Gene:


mRNA Expression by UniProt/SwissProt for TTC7A Gene:

Tissue specificity: Expressed in epithelial cells of the intestine, thymus, and pancreas (at protein level).

Evidence on tissue expression from TISSUES for TTC7A Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC7A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • reproductive
  • skeleton
  • biliary tract
  • duodenum
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
  • anus
  • placenta
  • uterus
  • blood
genes like me logo Genes that share expression patterns with TTC7A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
(Pan troglodytes)
Mammalia TTC7A 33 34
  • 99.61 (n)
(Bos Taurus)
Mammalia TTC7A 33 34
  • 90.13 (n)
(Canis familiaris)
Mammalia TTC7A 33 34
  • 90.09 (n)
(Rattus norvegicus)
Mammalia Ttc7a 33
  • 87.13 (n)
(Mus musculus)
Mammalia Ttc7 33 16 34
  • 86.89 (n)
(Monodelphis domestica)
Mammalia TTC7A 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia TTC7A 34
  • 72 (a)
(Gallus gallus)
Aves TTC7A 33 34
  • 69.72 (n)
(Anolis carolinensis)
Reptilia TTC7A 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc7a 33
  • 68.23 (n)
(Danio rerio)
Actinopterygii ttc7a 33 34
  • 59.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(2)k14710 34
  • 33 (a)
(Caenorhabditis elegans)
Secernentea Y39A3CR.3 34
  • 22 (a)
Species where no ortholog for TTC7A was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057516047 pathogenic, Multiple gastrointestinal atresias 47,073,816(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained
rs113844968 benign, Multiple gastrointestinal atresias 47,005,951(+) G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs113997845 benign, Multiple gastrointestinal atresias 46,994,386(+) G/C coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs117304542 likely-benign, benign, not provided, Multiple gastrointestinal atresias 47,005,985(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs13427658 benign, Multiple gastrointestinal atresias 47,046,372(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv6847n54 CNV loss 21841781
dgv696e199 CNV deletion 23128226
esv1009804 CNV deletion 20482838
esv3590617 CNV loss 21293372
esv3590619 CNV loss 21293372
nsv1004828 CNV gain 25217958
nsv1071991 CNV deletion 25765185
nsv1138772 CNV deletion 24896259
nsv457352 CNV loss 19166990
nsv457363 CNV loss 19166990
nsv473632 CNV novel sequence insertion 20440878
nsv476840 CNV novel sequence insertion 20440878
nsv517929 CNV loss 19592680
nsv518312 CNV loss 19592680
nsv519217 CNV gain 19592680
nsv519298 CNV loss 19592680
nsv521030 CNV loss 19592680
nsv521400 CNV loss 19592680
nsv524970 CNV loss 19592680
nsv525197 CNV loss 19592680
nsv525855 CNV loss 19592680
nsv528091 CNV loss 19592680
nsv581749 CNV loss 21841781
nsv581750 CNV loss 21841781
nsv581751 CNV loss 21841781

Variation tolerance for TTC7A Gene

Residual Variation Intolerance Score: 58.6% 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)

Additional Variant Information for TTC7A Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TTC7A Gene

MalaCards: The human disease database

(5) MalaCards diseases for TTC7A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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, ECO:0000269 PubMed:23830146, ECO:0000269 PubMed:24292712, ECO:0000269 PubMed:24417819, ECO:0000269 PubMed:24931897, ECO:0000269 PubMed:25534311, ECO:0000269 PubMed:25546680, ECO:0000269 PubMed:25745186}. Note=The disease is caused by mutations affecting the gene represented in this entry. Phenotypic variations have been observed: the mildest case show intestinal aberrations consisting of bloody diarrhea, apoptotic enterocolitis, and acute graft-versus-host disease- (GVHD)-like symptoms, but no atresias (PubMed:25546680). Other patients show multiple intestinal atresias, some being associated with immunodeficiency syndrome, while other do not show immunodeficiency defects (PubMed:23423984). {ECO:0000269 PubMed:23423984, ECO:0000269 PubMed:25546680}.

Additional Disease Information for TTC7A

Genetic Association Database
Human Genome Epidemiology 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. (PMID: 25745186) Woutsas S … Boztug K (Blood 2015) 3 4 58
  3. TTC7A mutations disrupt intestinal epithelial apicobasal polarity. (PMID: 24292712) Bigorgne AE … de Saint Basile G (The Journal of clinical investigation 2014) 3 4 58
  4. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. (PMID: 24417819) Avitzur Y … Muise AM (Gastroenterology 2014) 3 4 58
  5. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. (PMID: 23423984) Samuels ME … Maranda B (Journal of medical genetics 2013) 3 4 58

Products for TTC7A Gene

Sources for TTC7A Gene

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