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

    Gene ID: 5934, updated on 2-May-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
    mouse all
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    Genomic context

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    See RBL2 in Genome Data Viewer
    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 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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