Gene Gene information from NCBI Gene database.
Entrez ID 5931
Gene name RB binding protein 7, chromatin remodeling factor
Gene symbol RBBP7
Synonyms (NCBI Gene)
RbAp46SPGFX9
Chromosome X
Chromosome location Xp22.2
Summary This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded p
miRNA miRNA information provided by mirtarbase database.
223
miRTarBase ID miRNA Experiments Reference
MIRT016133 hsa-miR-421 Sequencing 20371350
MIRT028061 hsa-miR-93-5p Sequencing 20371350
MIRT049160 hsa-miR-92a-3p CLASH 23622248
MIRT046129 hsa-miR-30b-5p CLASH 23622248
MIRT044126 hsa-miR-30e-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IDA 9651585
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 9651585, 22865885
GO:0000781 Component Chromosome, telomeric region IDA 25150861
GO:0000781 Component Chromosome, telomeric region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300825 9890 ENSG00000102054
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16576
Protein name Histone-binding protein RBBP7 (Histone acetyltransferase type B subunit 2) (Nucleosome-remodeling factor subunit RBAP46) (Retinoblastoma-binding protein 7) (RBBP-7) (Retinoblastoma-binding protein p46)
Protein function Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which reg
PDB 3CFS , 3CFV , 7M3X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12265 CAF1C_H4-bd 18 87 Histone-binding protein RBBP4 or subunit C of CAF1 complex Family
PF00400 WD40 166 205 WD domain, G-beta repeat Repeat
PF00400 WD40 217 255 WD domain, G-beta repeat Repeat
PF00400 WD40 262 301 WD domain, G-beta repeat Repeat
PF00400 WD40 307 345 WD domain, G-beta repeat Repeat
PF00400 WD40 363 402 WD domain, G-beta repeat Repeat
Sequence
Sequence length 425
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling
Polycomb repressive complex
  PRC2 methylates histones and DNA
Oxidative Stress Induced Senescence
HDACs deacetylate histones
PKMTs methylate histone lysines
HATs acetylate histones
RMTs methylate histone arginines
Deposition of new CENPA-containing nucleosomes at the centromere
Regulation of TP53 Activity through Acetylation
RNA Polymerase I Transcription Initiation
Regulation of PTEN gene transcription
Neddylation
Transcriptional Regulation by E2F6
HCMV Early Events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE, X-LINKED, 9 ClinVar, GenCC, HPO
ClinVar, GenCC, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 36311801, 36503492
★☆☆☆☆
Found in Text Mining only
AIDS Associated Nephropathy Associate 35958876
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Associate 36720950
★☆☆☆☆
Found in Text Mining only
Azoospermia Associate 35809576
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 20920292
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 30637779
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Associate 31957828, 35538026
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 34086947
★☆☆☆☆
Found in Text Mining only
Hypoxia Stimulate 35538026
★☆☆☆☆
Found in Text Mining only
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 35809576
★☆☆☆☆
Found in Text Mining only