TTC7A (tetratricopeptide repeat domain 7A)

2017-10-01  

Identity

HGNC
TTC7A
LOCATION
2p21
LOCUSID
57217
ALIAS
GIDID,MINAT,TTC7
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
373909002023Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.2
373909002023Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.2
349850462022Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.5
349850462022Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.5
349758482021A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.7
349758482021A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.7
318140652020TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.1
331227182020The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.5
318140652020TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.1
331227182020The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.5
291740942018Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.8
303507972018A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems.2
291740942018Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.8
303507972018A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems.2
270595362016Ichthyosis as the dermatological phenotype associated with TTC7A mutations.9

Citation

Dessen P

TTC7A (tetratricopeptide repeat domain 7A)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57080/js/lib/css/lib/dataTables.bootstrap.min.css