TTC12 (tetratricopeptide repeat domain 12)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 54970
Gene name Tetratricopeptide repeat domain 12
Gene symbol TTC12
Synonyms (NCBI Gene)
CILD45TPARM
Chromosome 11
Chromosome location 11q23.2
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs201244916 C>G,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs372955658 T>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs781864891 A>- Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs782603932 A>C,T Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT038355 hsa-miR-296-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 26871637, 32296183, 32814053
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 31978331
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610732 23700 ENSG00000149292
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H892
Protein name Tetratricopeptide repeat protein 12 (TPR repeat protein 12)
Protein function Cytoplasmic protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both respiratory cells and sperm flagella.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00515 TPR_1 141 → 173 Tetratricopeptide repeat Repeat
PF13181 TPR_8 174 → 207 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in testis and in epithelial cells of trachea and bronchial tube. {ECO:0000269|PubMed:31978331}.
Sequence 
MDADKEKDLQKFLKNVDEISNLIQEMNSDDPVVQQKAVLETEKRLLLMEEDQEEDECRTT
LNKTMISPPQTAMKSAEEINSEAFLASVEKDAKERAKRRRENKVLADALKEKGNEAFAEG
NYETAILRYSEGLEKLKDMKVLYTNRAQAYMKLEDYEKALVDCEWALKCDEKCTKAYFHM
GKANLALKNYSVSRECYKKILEINPKLQTQVKGYLNQVDLQEKADLQEKEAHELLDSGKN
TAVTTKNLLETLSKPDQIPLFYAGGIEILTEMINECTEQTLFRMHNGFSIISDNEVIRRC
FSTAGNDAVEEMVCVSVLKLWQAVCSRNEENQRVLVIHHDRARLLAALLSSKVLAIRQQS
FALLLHLAQTESGRSLIINHLDLTRLLEALVSFLDFSDKEANTAMGLFTDLALEERFQVW
FQANLPGVLPALTGVLKTDPKVSSSSALCQCIAIMGNLSAEPTTRRHMAACEEFGDGCLS
LLARCEEDVDLFREVIYTLLGLMMNLCLQAPFVSEVWAVEVSRRCLSLLNSQDGGILTRA
AGVLSRTLSSSLKIVEEALRAGVVKKMMKFLKTGGETASRYAIKILAICTNSYHEAREEV
IRLDKKLSVMMKLLSSEDEVLVGNAALCLGNCMEVPNVASSLLKTDLLQVLLKLAGSDTQ
KTAVQVNAGIALGKLCTAEPRFAAQLRKLHGLEILNSTMKYISDS
Sequence length 705
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ciliary dyskinesia, primary, 45 Pathogenic rs782603932, rs201244916, rs781864891, rs372955658 RCV001007631
RCV001007632
RCV001007633
RCV001007634
Ovarian serous cystadenocarcinoma Pathogenic rs201244916 RCV005912372
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs77534773 RCV005936855
Familial cancer of breast Benign; Likely benign rs10891537, rs143340523, rs77534773 RCV005922053
RCV005933039
RCV005936851
Hepatocellular carcinoma Benign; Conflicting classifications of pathogenicity; Likely benign rs10891537, rs199526774, rs77534773 RCV005922054
RCV005931103
RCV005936853
Lung cancer Likely benign rs143340523 RCV005933041
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 28624582
Ciliary Motility Disorders Associate 31978331
Cognition Disorders Associate 34285142
Congenital Abnormalities Associate 31978331
Disruptive Impulse Control and Conduct Disorders Associate 28624582