Gene Gene information from NCBI Gene database.
Entrez ID 29115
Gene name SAP30 binding protein
Gene symbol SAP30BP
Synonyms (NCBI Gene)
HCNGPHTRGHTRP
Chromosome 17
Chromosome location 17q25.1
miRNA miRNA information provided by mirtarbase database.
267
miRTarBase ID miRNA Experiments Reference
MIRT048958 hsa-miR-92a-3p CLASH 23622248
MIRT048958 hsa-miR-92a-3p CLASH 23622248
MIRT043616 hsa-miR-151a-3p CLASH 23622248
MIRT043246 hsa-miR-324-5p CLASH 23622248
MIRT1325799 hsa-miR-1207-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15496587, 16189514, 18255255, 21516116, 22365833, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 15496587
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610218 30785 ENSG00000161526
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHR5
Protein name SAP30-binding protein (Transcriptional regulator protein HCNGP)
Protein function Plays a role in transcriptional repression by promoting histone deacetylase activity, leading to deacetylation of histone H3 (PubMed:21221920). May be involved in the regulation of beta-2-microglobulin genes (By similarity). {ECO:0000250|UniProt
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07818 HCNGP 119 213 HCNGP-like protein Family
Sequence
MAGKKNVLSSLAVYAEDSEPESDGEAGIEAVGSAAEEKGGLVSDAYGEDDFSRLGGDEDG
YEEEEDENSRQSEDDDSETEKPEADDPKDNTEAEKRDPQELVASFSERVRNMSPDEIKIP
PEPPGRCSNHLQDKIQKLYERKIKEGMDMNYIIQRKKEFRNPSIYEKLIQFCAIDELGTN
YPKDMFDPHGWSEDSYYEALAKAQKIEMDKLEK
AKKERTKIEFVTGTKKGTTTNATSTTT
TTASTAVADAQKRKSKWDSAIPVTTIAQPTILTTTATLPAVVTVTTSASGSKTTVISAVG
TIVKKAKQ
Sequence length 308
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
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARAPLEGIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ROTATOR CUFF TEAR GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Diabetes Mellitus Type 2 Associate 24455749
★☆☆☆☆
Found in Text Mining only
Obesity Associate 24455749
★☆☆☆☆
Found in Text Mining only