TTC12 (tetratricopeptide repeat domain 12)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54970
Gene name Gene Name - the full gene name approved by the HGNC.
Tetratricopeptide repeat domain 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTC12
Synonyms (NCBI Gene) Gene synonyms aliases
CILD45, TPARM
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.2
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610732 23700 ENSG00000149292
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary dyskinesia Ciliary dyskinesia, primary, 45 rs782603932, rs201244916, rs781864891, rs372955658 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neuroticism Neuroticism N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease 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