Entity Details

Primary name TTC12
Entity type gene
Source Source Link

Details

PrimaryID54970
RefseqGene
SymbolTTC12
Nametetratricopeptide repeat domain 12
Chromosome11
Location11q23.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTTC12_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0007288 sperm axoneme assembly
GO:0070286 axonemal dynein complex assembly

Diseases

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Disease IDSourceNameDescription
618801 OMIMCiliary dyskinesia, primary, 45 (CILD45)A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm. The disease is caused by variants affecting the gene represented in this entry.

Interactions

10 interactions

InteractorPartnerSourcesPublicationsLink
TTC12MIPOL1BioGRID, IntAct25416956 26871637 details
TTC12HPCAL4BioGRID, IntAct25416956 details
TTC12C1orf109BioGRID, IntAct32296183 details
TTC12PAK1IntAct32814053 details
TTC12CDC42BioGRID31478661 details
TTC12PCM1BioGRID, IntAct26638075 details
TTC12SIGLECL1BioGRID, IntAct28514442 details
TTC12H1-2BioGRID, IntAct30021884 details
TTC12HNRNPLBioGRID28611215 details
TTC12VIRMABioGRID29507755 details