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RBL2 RB transcriptional corepressor like 2 [ Homo sapiens (human) ]

Gene ID: 5934, updated on 3-Apr-2024

Summary

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Official Symbol
RBL2provided by HGNC
Official Full Name
RB transcriptional corepressor like 2provided by HGNC
Primary source
HGNC:HGNC:9894
See related
Ensembl:ENSG00000103479 MIM:180203; AllianceGenome:HGNC:9894
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Rb2; P130; BRUWAG
Summary
Enables promoter-specific chromatin binding activity. Involved in regulation of lipid kinase activity. Acts upstream of or within negative regulation of gene expression. Located in chromosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 41.9), testis (RPKM 38.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16q12.2
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (53434471..53491648)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (59232279..59289452)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (53468383..53525560)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene MPHOSPH10 pseudogene 1 Neighboring gene uncharacterized LOC102723373 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:53411888-53413087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10842 Neighboring gene RNA, U6 small nuclear 1153, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:53536317-53536818 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:53536819-53537318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7500 Neighboring gene uncharacterized LOC124903690 Neighboring gene AKT interacting protein Neighboring gene uncharacterized LOC105371268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10845

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer. Ullah F, et al. PLoS One, 2022. PMID 35385527, Free PMC Article
  2. RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function. Samra N, et al. J Hum Genet, 2021 Nov. PMID 33980986
  3. Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder. Brunet T, et al. Ann Clin Transl Neurol, 2020 Mar. PMID 32105419, Free PMC Article
  4. Nucleosomes positioning around transcriptional start site of tumor suppressor (Rbl2/p130) gene in breast cancer. Farman FU, et al. Mol Biol Rep, 2018 Apr. PMID 29417345
  5. Hepatitis C virus core protein modulates pRb2/p130 expression in human hepatocellular carcinoma cell lines through promoter methylation. Mileo AM, et al. J Exp Clin Cancer Res, 2015 Nov 14. PMID 26576645, Free PMC Article

See all (183) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RBL2-E2F-GCN5 guide cell fate decisions during tissue specification by regulating cell-cycle-dependent fluctuations of non-cell-autonomous signaling.
    Title: RBL2-E2F-GCN5 guide cell fate decisions during tissue specification by regulating cell-cycle-dependent fluctuations of non-cell-autonomous signaling.
  2. Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.
    Title: Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.
  3. Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer.
    Title: Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer.
  4. RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
    Title: RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
  5. Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
    Title: Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
  6. A point mutation in LxCxE motif of KDM5A/RBP2 renders it incapable of 130 kDa retinoblastoma-associated protein (p130)-interaction and hence, repression of E2F transcription factor 4 and (E2F)-regulated gene promoters.
    Title: Dynamic site-specific recruitment of RBP2 by pocket protein p130 modulates H3K4 methylation on E2F-responsive promoters.
  7. HSP27 promotes cell cycle progression of MRC-5 cells by suppressing expression of the transcriptional repressors E2F-4 and p130
    Title: Heat shock protein 27 promotes cell cycle progression by down-regulating E2F transcription factor 4 and retinoblastoma family protein p130.
  8. RBL2/p130 and AKT1 physically interact and AKT phosphorylates RBL2/p130 Ser941, located in the pocket domain, but not when this residue is mutated into Alanine.
    Title: RBL2/p130 is a direct AKT target and is required to induce apoptosis upon AKT inhibition in lung cancer and mesothelioma cell lines.
  9. Three fold reduced Rbl2/p130 expression in these tumor tissues were noticed compared to their control tissues. DNA obtained from MNAse digested chromatin was used as PCR template.
    Title: Nucleosomes positioning around transcriptional start site of tumor suppressor (Rbl2/p130) gene in breast cancer.
  10. UL97 phosphorylates and inactivates the retinoblastoma protein-related p107 and p130 proteins
    Title: Human cytomegalovirus-encoded viral cyclin-dependent kinase (v-CDK) UL97 phosphorylates and inactivates the retinoblastoma protein-related p107 and p130 proteins.
Submit: New GeneRIF Correction See all GeneRIFs (75)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Brunet-Wagner neurodevelopmental syndrome
MedGen: C5562056 OMIM: 619690 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 PubMed
Tat tat HIV-1 Tat can inhibit the growth control activity exerted by pRb2/p130 in the T98G cell line, and results show that pRb2/p130 mRNA levels increase in the presence of Tat, whereas no change in the phosphorylation status of pRb2/p130 is observed PubMed
tat HIV-1 Tat protein specifically binds to pRb2/p130 and data suggest this interaction results in the deregulation of the control exerted by pRb2/p130 on the cell cycle, indicating a potential role in AIDS-related oncogenesis PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ26459

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables promoter-specific chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of G1/S transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of lipid kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in chromosome IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in extracellular exosome HDA PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
retinoblastoma-like protein 2
Names
130 kDa retinoblastoma-associated protein
PRB2
RBR-2
retinoblastoma-like 2
retinoblastoma-related protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001323608.2 → NP_001310537.1  retinoblastoma-like protein 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC007342
    Consensus CDS
    CCDS10748.1
    UniProtKB/Swiss-Prot
    B7Z913, Q08999, Q15073, Q16084, Q8NE70, Q92812
    Conserved Domains (3) summary
    pfam01857
    Location:835 → 1017
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:417 → 609
    RB_A; Retinoblastoma-associated protein A domain
    pfam11934
    Location:104 → 236
    DUF3452; Domain of unknown function (DUF3452)

  2. NM_001323609.2 → NP_001310538.1  retinoblastoma-like protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007342

  3. NM_001323610.2 → NP_001310539.1  retinoblastoma-like protein 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC007342

  4. NM_001323611.1 → NP_001310540.1  retinoblastoma-like protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC007342
    Conserved Domains (3) summary
    pfam01857
    Location:761 → 943
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:343 → 535
    RB_A; Retinoblastoma-associated protein A domain
    pfam11934
    Location:30 → 162
    DUF3452; Domain of unknown function (DUF3452)

  5. NM_005611.4 → NP_005602.3  retinoblastoma-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_005602.3

    Status: VALIDATED

    Source sequence(s)
    BC034490, X76061
    Consensus CDS
    CCDS10748.1
    UniProtKB/Swiss-Prot
    B7Z913, Q08999, Q15073, Q16084, Q8NE70, Q92812
    Related
    ENSP00000262133.6, ENST00000262133.11
    Conserved Domains (3) summary
    pfam01857
    Location:835 → 1017
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:417 → 609
    RB_A; Retinoblastoma-associated protein A domain
    pfam11934
    Location:104 → 236
    DUF3452; Domain of unknown function (DUF3452)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    53434471..53491648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434414.1 → XP_047290370.1  retinoblastoma-like protein 2 isoform X1

  2. XM_011523253.3 → XP_011521555.1  retinoblastoma-like protein 2 isoform X2

    UniProtKB/TrEMBL
    Q7Z3L2
    Related
    ENST00000379935.8
    Conserved Domains (3) summary
    pfam01857
    Location:619 → 801
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:201 → 393
    RB_A; Retinoblastoma-associated protein A domain
    pfam11934
    Location:1 → 20
    DUF3452; Domain of unknown function (DUF3452)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    59232279..59289452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313572.1 → XP_054169547.1  retinoblastoma-like protein 2 isoform X1

  2. XM_054313573.1 → XP_054169548.1  retinoblastoma-like protein 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08999.3 GenPept UniProtKB/Swiss-Prot:Q08999

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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