Gene Gene information from NCBI Gene database.
Entrez ID 158219
Gene name Tetratricopeptide repeat domain 39B
Gene symbol TTC39B
Synonyms (NCBI Gene)
C9orf52
Chromosome 9
Chromosome location 9p22.3
miRNA miRNA information provided by mirtarbase database.
240
miRTarBase ID miRNA Experiments Reference
MIRT018991 hsa-miR-335-5p Microarray 18185580
MIRT541696 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT541695 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT541694 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT541696 hsa-miR-5011-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183, 33961781
GO:0006629 Process Lipid metabolic process IEA
GO:0010874 Process Regulation of cholesterol efflux IBA
GO:0010874 Process Regulation of cholesterol efflux ISS
GO:0010887 Process Negative regulation of cholesterol storage IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613574 23704 ENSG00000155158
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VTQ0
Protein name Tetratricopeptide repeat protein 39B (TPR repeat protein 39B)
Protein function Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10300 DUF3808 140 598 Protein of unknown function (DUF3808) Family
Sequence
Sequence length 682
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cholelithiasis Associate 39840844
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Endometriosis Associate 27453397
★☆☆☆☆
Found in Text Mining only
Gallbladder Diseases Associate 25920552
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 40102553
★☆☆☆☆
Found in Text Mining only