Property Summary

NCBI Gene PubMed Count 19
PubMed Score 24.58
PubTator Score 19.42

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -2.664 2.0e-10
posterior fossa group A ependymoma 1.800 3.7e-11
active ulcerative colitis 1.183 1.6e-02
aldosterone-producing adenoma -1.104 7.5e-03

Pathway (1)

Protein-protein Interaction (1)

Gene RIF (8)

PMID Text
25745186 identified a perfectly segregating homozygous missense mutation in TTC7A in a consanguinous Turkish pedigree causing combined immunodeficiency with mild structural intestinal defects
25174867 Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
24417819 Identify loss of function mutations in TTC7A in 5 infants with very early onset inflammatory bowel disease.
24292712 TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells in multiple intestinal atresia.
24162774 HIV-1 gp120 upregulates the expression of tetratricopeptide repeat domain 7A (TTC7A) in human B cells
23830146 These data strongly suggest that TTC7A gene defects cause combined immunodeficiency with multiple intestinal atresias.
23423984 Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
19898481 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLA      1 - 70
EALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDA     71 - 140
ISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVF    141 - 210
LQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFK    211 - 280
VMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLL    281 - 350
ISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQV    351 - 420
ALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGY    421 - 490
LALGLTYSLQATDATLKSKQDELHRKALQTLERAQQLAPSDPQVILYVSLQLALVRQISSAMEQLQEALK    491 - 560
VRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLW    561 - 630
QTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPSSVLK    631 - 700
QGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKE    701 - 770
ALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTAL    771 - 840
ELEASSPVLPFSIIPREL                                                        841 - 858
//

Text Mined References (30)

PMID Year Title
25745186 2015 Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
25546680 2014 Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.
25534311 2015 Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
25174867 2014 Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
24931897 2014 Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
24417819 2014 Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
24292712 2014 TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23830146 2013 Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
23423984 2013 Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
23229899 2012 PtdIns4P synthesis by PI4KIII? at the plasma membrane and its impact on plasma membrane identity.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20932654 2010 Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
20339536 2010 Genome-wide association of lipid-lowering response to statins in combined study populations.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19898481 2009 Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15718100 2005 Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
10574461 1999 Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.