Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
158219
Gene name Gene Name - the full gene name approved by the HGNC.
Tetratricopeptide repeat domain 39B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTC39B
Synonyms (NCBI Gene) Gene synonyms aliases
C9orf52
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p22.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0006629 Process Lipid metabolic process IEA
GO:0010874 Process Regulation of cholesterol efflux IBA 21873635
GO:0010874 Process Regulation of cholesterol efflux ISS
GO:0010887 Process Negative regulation of cholesterol storage IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613574 23704 ENSG00000155158
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 21347282 ClinVar
Coenzyme Q10 Deficiency Coenzyme Q10 Deficiency GWAS
Coronary artery disease Coronary artery disease GWAS
Bipolar Disorder Bipolar Disorder GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cholelithiasis Associate 39840844
Endometriosis Associate 27453397
Gallbladder Diseases Associate 25920552
Stomach Neoplasms Associate 40102553