Property Summary

NCBI Gene PubMed Count 19
Grant Count 4
R01 Count 1
Funding $264,530.17
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 0.000
posterior fossa group A ependymoma 1.800 0.000
active ulcerative colitis 1.183 0.016
aldosterone-producing adenoma -1.104 0.007

Synonym

Accession Q9ULT0 Q2T9J9 Q6PIX4 Q8ND67 Q9BUS3 TPR repeat protein 7A
Symbols TTC7
GIDID
MINAT

Gene

PANTHER Protein Class (2)

Pathway (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.
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