TTC12 (tetratricopeptide repeat domain 12)

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Gene Gene information from NCBI Gene database.
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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.
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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
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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.
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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.
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MIM HGNC e!Ensembl
610732 23700 ENSG00000149292
Protein Protein information from UniProt database.
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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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ciliary dyskinesia, primary, 45 Pathogenic rs782603932, rs201244916, rs781864891, rs372955658 RCV001007631
RCV001007632
RCV001007633
RCV001007634
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma Pathogenic rs201244916 RCV005912372
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (16)
Phenotype Name Clinical Significance Source Reference Evidence Score
Cervical cancer Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign; Conflicting classifications of pathogenicity; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (13)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 28624582 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 28624582
★★★★★
★☆☆☆☆
Found in Text Mining only
Ciliary Motility Disorders Ciliary dyskinesia Pubtator 31978331 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cognition Disorders Cognition disorder Pubtator 34285142 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 31978331 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders Disruptive, impulse control, and conduct disorders Pubtator 28624582 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 29942085
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
melanoma Melanoma BEFREE 12964006
★★★★★
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood Disorder GWASCAT_DG 29942085
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 12964006
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
HYDIN 2 shared diseasesCiliary dyskinesia, Teratozoospermia 7 shared evidence sourcesHPO (Ciliary dyskinesia), Disgenet (Ciliary dyskinesia), ClinGen (Ciliary dyskinesia), ClinVar (Ciliary dyskinesia), GWAS catalog (Ciliary dyskinesia), Orphanet (Ciliary dyskinesia), Disgenet (Teratozoospermia) Related via 2 shared diseases including Ciliary dyskinesia, Teratozoospermia — evidence mostly Disgenet. DNAH1 2 shared diseasesCiliary dyskinesia, Teratozoospermia 7 shared evidence sourcesHPO (Ciliary dyskinesia), Disgenet (Ciliary dyskinesia), ClinGen (Ciliary dyskinesia), ClinVar (Ciliary dyskinesia), GWAS catalog (Ciliary dyskinesia), Orphanet (Ciliary dyskinesia), Disgenet (Teratozoospermia) Related via 2 shared diseases including Ciliary dyskinesia, Teratozoospermia — evidence mostly Disgenet. MCIDAS 1 shared diseaseCiliary dyskinesia 6 shared evidence sourcesHPO (Ciliary dyskinesia), Disgenet (Ciliary dyskinesia), ClinGen (Ciliary dyskinesia), ClinVar (Ciliary dyskinesia), GWAS catalog (Ciliary dyskinesia), Orphanet (Ciliary dyskinesia) Related via 1 shared disease including Ciliary dyskinesia — evidence mostly HPO. NME5 1 shared diseaseCiliary dyskinesia 6 shared evidence sourcesHPO (Ciliary dyskinesia), Disgenet (Ciliary dyskinesia), ClinGen (Ciliary dyskinesia), ClinVar (Ciliary dyskinesia), GWAS catalog (Ciliary dyskinesia), Orphanet (Ciliary dyskinesia) Related via 1 shared disease including Ciliary dyskinesia — evidence mostly HPO. CLXN 1 shared diseaseCiliary dyskinesia 6 shared evidence sourcesHPO (Ciliary dyskinesia), Disgenet (Ciliary dyskinesia), ClinGen (Ciliary dyskinesia), ClinVar (Ciliary dyskinesia), GWAS catalog (Ciliary dyskinesia), Orphanet (Ciliary dyskinesia) Related via 1 shared disease including Ciliary dyskinesia — evidence mostly HPO.
Alzheimer disease Linked via 3 of 5 related genesHYDIN, NME5, CLXN Obstructive pulmonary disease Linked via 2 of 5 related genesHYDIN, MCIDAS Color vision deficiency Linked via 2 of 5 related genesHYDIN, CLXN Diabetes mellitus type 2 Linked via 2 of 5 related genesDNAH1, NME5 Ovarian cancer Linked via 2 of 5 related genesMCIDAS, CLXN