TTC7A (tetratricopeptide repeat domain 7A)

2017-10-01  

Identity

HGNC
LOCATION
2p21
LOCUSID
ALIAS
GIDID,MINAT,TTC7
FUSION GENES

Other Information

Locus ID:

NCBI: 57217
MIM: 609332
HGNC: 19750
Ensembl: ENSG00000068724

Variants:

dbSNP: 57217
ClinVar: 57217
TCGA: ENSG00000068724
COSMIC: TTC7A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068724ENST00000319190Q9ULT0
ENSG00000068724ENST00000394850Q9ULT0
ENSG00000068724ENST00000409245G5E9G4
ENSG00000068724ENST00000409825H0Y3V7
ENSG00000068724ENST00000440051H7C1P2
ENSG00000068724ENST00000441914H7C055

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198984812009Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.131
244178192014Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.55
238301462013Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.38
242927122014TTC7A mutations disrupt intestinal epithelial apicobasal polarity.35
234239842013Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.34
251748672014Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.14
257451862015Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.6
274186422016Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.6
270595362016Ichthyosis as the dermatological phenotype associated with TTC7A mutations.2
291740942018Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.2

Citation

Dessen P

TTC7A (tetratricopeptide repeat domain 7A)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57080/ttc7a