Gene Gene information from NCBI Gene database.
Entrez ID 5934
Gene name RB transcriptional corepressor like 2
Gene symbol RBL2
Synonyms (NCBI Gene)
BRUWAGP130Rb2
Chromosome 16
Chromosome location 16q12.2
miRNA miRNA information provided by mirtarbase database.
169
miRTarBase ID miRNA Experiments Reference
MIRT003218 kshv-miR-K12-4-5p Luciferase reporter assayWestern blot 20071580
MIRT004139 hsa-miR-192-5p Microarray 16822819
MIRT005852 hsa-miR-17-5p Luciferase reporter assay 21283765
MIRT005859 hsa-miR-20a-5p Luciferase reporter assay 21283765
MIRT005867 hsa-miR-106b-5p Luciferase reporter assay 21283765
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
CTCF Unknown 21325284
EGR1 Activation 22431919
NAB2 Activation 22431919
TWIST1 Repression 19051271
TWIST2 Repression 19051271
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 1331501, 9464541, 10869426, 15467457, 16286473, 17531812, 17620057, 19725879, 20133863, 22002537, 22094256, 27107012, 32296183, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180203 9894 ENSG00000103479
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08999
Protein name Retinoblastoma-like protein 2 (130 kDa retinoblastoma-associated protein) (p130) (Retinoblastoma-related protein 2) (RBR-2) (pRb2)
Protein function Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and target
PDB 4XI9 , 5C1D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11934 DUF3452 104 239 Domain of unknown function (DUF3452) Family
PF01858 RB_A 417 609 Retinoblastoma-associated protein A domain Domain
PF01857 RB_B 835 1018 Retinoblastoma-associated protein B domain Domain
Sequence
MPSGGDQSPPPPPPPPAAAASDEEEEDDGEAEDAAPPAESPTPQIQQRFDELCSRLNMDE
AARAEAWDSYRSMSESYTLEGNDLHWLACALYVACRKSVPTVSKGTVEGNYVSLTRILKC
SEQSLIEFFNKMKKWEDMANLPPHFRERTERLERNFTVSAVIFKKYEPIFQDIFKYPQEE
QPRQQRGRKQRRQPCTVSEIFHFCWVLFIYAKGNFPMISDDLVNSYHLLLCALDLVYGN
A
LQCSNRKELVNPNFKGLSEDFHAKDSKPSSDPPCIIEKLCSLHDGLVLEAKGIKEHFWKP
YIRKLYEKKLLKGKEENLTGFLEPGNFGESFKAINKAYEEYVLSVGNLDERIFLGEDAEE
EIGTLSRCLNAGSGTETAERVQMKNILQQHFDKSKALRISTPLTGVRYIKENSPCVTPVS
TATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDF
SNCAKEIASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVV
TFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDGLCREVVKHLNQIEEQILDHLAWK
PESPLWEKI
RDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTEVRADTGGLGRSI
TSPTTLYDRYSSPPASTTRRRLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVT
PVPGQTLVTMATATVTANNGQTVTIPVQGIANENGGITFFPVQVNVGGQAQAVTGSIQPL
SAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSNRPRKTSSLSLFF
RKVYHLAAVRLRDLCAKLDISDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMA
KVTKEDKSFQNIMRCYRTQPQARSQVYRSVLIKGKRKRRNSGSSDSRSHQNSPTELNKDR
TSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQFYNNIYIKQIK
TF
AMKYSQANMDAPPLSPYPFVRTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNS
PSKRLREINSMIRTGETPTKKRGILLEDGSESPAKRICPENHSALLRRLQDVANDRGSH
Sequence length 1139
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  FoxO signaling pathway
Cell cycle
PI3K-Akt signaling pathway
Cellular senescence
Human papillomavirus infection
Viral carcinogenesis
  Transcription of E2F targets under negative control by DREAM complex
G0 and Early G1
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
Cyclin E associated events during G1/S transition
G1/S-Specific Transcription
Cyclin D associated events in G1
Cyclin A:Cdk2-associated events at S phase entry
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Brunet-Wagner neurodevelopmental syndrome Likely pathogenic; Pathogenic rs2153138545, rs1401758241, rs757065708, rs2150795233, rs2058068934, rs2506702087 RCV001807545
RCV001807547
RCV001808866
RCV001824098
RCV003484516
RCV003990363
★★★★★
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Inhibit 11506494
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 15923424, 16760287, 26271034
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Associate 10702389, 17485552, 19694314
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 10702389, 23725122, 37725511
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Inhibit 34851822
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 26576645, 28639733
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 35058503
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 28987387
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 34793840
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Associate 11710944, 16158962
★☆☆☆☆
Found in Text Mining only