TTC26 (tetratricopeptide repeat domain 26)

2014-11-01  

Identity

HGNC
LOCATION
7q34
LOCUSID
ALIAS
DYF13,IFT56,dyf-13
FUSION GENES

Other Information

Locus ID:

NCBI: 79989
MIM: 617453
HGNC: 21882
Ensembl: ENSG00000105948

Variants:

dbSNP: 79989
ClinVar: 79989
TCGA: ENSG00000105948
COSMIC: TTC26

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105948ENST00000343187A0AVF1
ENSG00000105948ENST00000430935A0AVF1
ENSG00000105948ENST00000464848A0AVF1
ENSG00000105948ENST00000474035Q96CU4
ENSG00000105948ENST00000476296F8WEZ4
ENSG00000105948ENST00000478836B7Z6R6
ENSG00000105948ENST00000495038B7Z2T3

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
315955282020Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.14
326179642020Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.3
315955282020Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.14
326179642020Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.3
245961492014TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.47
245961492014TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.47
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

Citation

Dessen P

TTC26 (tetratricopeptide repeat domain 26)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75279/chromosome-explorer/gene-explorer/