Gene Gene information from NCBI Gene database.
Entrez ID 64927
Gene name Tetratricopeptide repeat domain 23
Gene symbol TTC23
Synonyms (NCBI Gene)
HCC-8
Chromosome 15
Chromosome location 15q26.3
miRNA miRNA information provided by mirtarbase database.
123
miRTarBase ID miRNA Experiments Reference
MIRT1461068 hsa-miR-1343 CLIP-seq
MIRT1461069 hsa-miR-3074-5p CLIP-seq
MIRT1461070 hsa-miR-3616-3p CLIP-seq
MIRT1461071 hsa-miR-4299 CLIP-seq
MIRT1461072 hsa-miR-4710 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 30886144, 31515488, 32296183, 32814053
GO:0005929 Component Cilium IEA
GO:0005929 Component Cilium ISS
GO:0042995 Component Cell projection IEA
GO:0045880 Process Positive regulation of smoothened signaling pathway ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5W5X9
Protein name Tetratricopeptide repeat protein 23 (TPR repeat protein 23) (Cervical cancer proto-oncogene 8 protein) (HCC-8)
Protein function Participates positively in the ciliary Hedgehog (Hh) signaling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13424 TPR_12 314 387 Repeat
Sequence
MQESQETHISNHLDEVVAAVSITHRKKFQNKLLQTALFQPPREKLHLCEEKAKSYSNSHE
YKQAVHELVRCVALTRICYGDSHWKLAEAHVNLAQGYLQLKGLSLQAKQHAEKARQILAN
SIVPPYSENTDVFKFSIELFHTMGRALLSLQKFKEAAENLTKAERLSKELLQCGRIIKEE
WIEIEARIRLSFAQVYQGQKKSKEALSHYQAALEYVEISKGETSRECVPILRELAGVEQA
LGLHDVSINHFLQAHLIILSRSPSQVEAADSAHIVAHAAVASGRHEHHDVAEQYFQESMA
HLKDSEGMGRTKFLSIQDEFCHFLQMTGQKERATSILRESLEAKVEAFGDFSPEVAETYR
LLGGADLAQGNHSGARKKLKKCLQIQT
LLYGPQDKRTLATQQAMGMLSTAPKVASKPRQA
SKAKVAFCTSIPQDTLLGKARPGTTAD
Sequence length 447
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
BELL'S PALSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Orofaciodigital syndrome Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ciliopathies Ciliopathy Pubtator 32055034 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28981677
★☆☆☆☆
Found in Text Mining only