TTC37 (tetratricopeptide repeat domain 37)

2014-11-01  

Identity

HGNC
TTC37
LOCATION
5q15
LOCUSID
9652
ALIAS
KIAA0372,Ski3,THES
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9652
MIM: 614589
HGNC: 23639
Ensembl: ENSG00000198677

Variants:

dbSNP: 9652
ClinVar: 9652
TCGA: ENSG00000198677
COSMIC: TTC37

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198677ENST00000358746Q6PGP7
ENSG00000198677ENST00000505578H0Y964
ENSG00000198677ENST00000513232H0Y915
ENSG00000198677ENST00000513823D6RDA0
ENSG00000198677ENST00000514952D6RCE2
ENSG00000198677ENST00000649566Q6PGP7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

Pathways

PathwaySourceExternal ID
RNA degradationKEGGko03018
RNA degradationKEGGhsa03018
Ski complexKEGGhsa_M00392
Ski complexKEGGM00392
Gene ExpressionREACTOMER-HSA-74160
Deadenylation-dependent mRNA decayREACTOMER-HSA-429914
mRNA decay by 3' to 5' exoribonucleaseREACTOMER-HSA-429958

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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10066duloxetineChemicalClinicalAnnotation, VariantAnnotationassociatedPD29407288
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotation, VariantAnnotationassociatedPD29407288

References

Pubmed IDYearTitleCitations
340373102021Expanding the clinical spectrum in trichohepatoenteric syndrome.3
340373102021Expanding the clinical spectrum in trichohepatoenteric syndrome.3
293838422018A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.4
295277912018Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.25
293838422018A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.4
295277912018Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.25
269453922016Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.10
270503102016Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.15
269453922016Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.10
270503102016Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.15
259767262015Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.9
259767262015Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.9
211209492011Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.24
211209492011Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.24
201760272010Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).54

Citation

Dessen P

TTC37 (tetratricopeptide repeat domain 37)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75289/cancer-prone-explorer/meetings/js/lib/gene-fusions/?id=75289