TTC37 (tetratricopeptide repeat domain 37)

2014-11-01  

Identity

HGNC
LOCATION
5q15
LOCUSID
ALIAS
KIAA0372,Ski3,THES
FUSION GENES

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10066duloxetineChemicalClinicalAnnotation, VariantAnnotationassociatedPD29407288
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotation, VariantAnnotationassociatedPD29407288

References

Pubmed IDYearTitleCitations
201760272010Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).33
211209492011Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.14
270503102016Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.7
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.6
295277912018Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.5
259767262015Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.4
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.1

Citation

Dessen P

TTC37 (tetratricopeptide repeat domain 37)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75289/ttc37