Aliases for RBL2 Gene

Aliases for RBL2 Gene

  • RB Transcriptional Corepressor Like 2 2 3 5
  • 130 KDa Retinoblastoma-Associated Protein 3 4
  • Retinoblastoma-Related Protein 2 3 4
  • Retinoblastoma-Like Protein 2 3 4
  • Retinoblastoma-Like 2 2 3
  • RBR-2 3 4
  • P130 3 4
  • PRB2 3
  • PRb2 4
  • Rb2 3
  • RB2 4

External Ids for RBL2 Gene

Previous GeneCards Identifiers for RBL2 Gene

  • GC16P043882
  • GC16P053523
  • GC16P053206
  • GC16P053246
  • GC16P053247
  • GC16P052025
  • GC16P039355
  • GC16P053467

Summaries for RBL2 Gene

GeneCards Summary for RBL2 Gene

RBL2 (RB Transcriptional Corepressor Like 2) is a Protein Coding gene. Diseases associated with RBL2 include Retinoblastoma and Unilateral Retinoblastoma. Among its related pathways are FoxO family signaling and Cell cycle. An important paralog of this gene is RBL1.

UniProtKB/Swiss-Prot Summary for RBL2 Gene

  • 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 targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor.

Gene Wiki entry for RBL2 Gene

Additional gene information for RBL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBL2 Gene

Genomics for RBL2 Gene

GeneHancer (GH) Regulatory Elements for RBL2 Gene

Promoters and enhancers for RBL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J053433 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 576.2 +1.4 1359 3.8 FOXK2 ZNF217 EP300 SIN3A TCF12 NRF1 POLR2G SP1 NCOR1 GTF2E2 RBL2 lnc-AKTIP-9 ENSG00000261056 ENSG00000262714 LOC102723373
GH16J053372 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.2 -60.4 -60376 1.6 ZNF217 ZFX POLR2A ZBTB26 CTBP1 EZH2 ZNF585B SIN3A KLF9 ZBTB17 ENSG00000261804 LOC643802 LOC102723373 lnc-AKTIP-6 RBL2 ENSG00000262714
GH16J053444 Promoter/Enhancer 0.7 EPDnew Ensembl ENCODE 566.1 +12.1 12124 3 RBL2 AKTIP ENSG00000262714 RNU6-1153P RF00026-398 piR-51671-037 LOC102723373
GH16J053413 Promoter 0.5 EPDnew 511.3 -20.7 -20729 0.1 ZBTB33 NFYC RBL2 lnc-RBL2-3 RF00017-2076 LOC102723373
GH16J053500 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 83.6 +69.3 69295 4.9 EP300 FOXK2 ZBTB40 SIN3A NRF1 POLR2G SP1 NCOR1 PHF8 FOS AKTIP lnc-RPGRIP1L-3 RBL2 CHD9 ENSG00000261056 piR-58834
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBL2

Top Transcription factor binding sites by QIAGEN in the RBL2 gene promoter:
  • CBF-A
  • CBF-B
  • Evi-1
  • HTF
  • ISGF-3
  • ITF-2
  • Nkx2-5
  • SRY
  • Tal-1beta
  • TBP

Genomic Locations for RBL2 Gene

Genomic Locations for RBL2 Gene
chr16:53,433,977-53,491,648
(GRCh38/hg38)
Size:
57,672 bases
Orientation:
Plus strand
chr16:53,467,889-53,525,561
(GRCh37/hg19)
Size:
57,673 bases
Orientation:
Plus strand

Genomic View for RBL2 Gene

Genes around RBL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBL2 Gene

Proteins for RBL2 Gene

  • Protein details for RBL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08999-RBL2_HUMAN
    Recommended name:
    Retinoblastoma-like protein 2
    Protein Accession:
    Q08999
    Secondary Accessions:
    • B7Z913
    • Q15073
    • Q16084
    • Q8NE70
    • Q92812

    Protein attributes for RBL2 Gene

    Size:
    1139 amino acids
    Molecular mass:
    128367 Da
    Quaternary structure:
    • Interacts with AATF. Interacts with KMT5B, KMT5C and USP4 (By similarity). Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2. Interacts with RINT1. Interacts with PML (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5). Interacts with RBBP9 (By similarity).

    Three dimensional structures from OCA and Proteopedia for RBL2 Gene

    Alternative splice isoforms for RBL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBL2 Gene

Post-translational modifications for RBL2 Gene

  • During G0 and early G1 phase of the cell cycle, phosphorylated on Ser-639 and on 5 sites within the domain B. Phosphorylation on Ser-672 in G1 leads to its ubiquitin-dependent proteolysis.
  • Ubiquitination at Lys384
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RBL2 Gene

Domains & Families for RBL2 Gene

Gene Families for RBL2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RBL2 Gene

Blocks:
  • Cyclin
  • Retinoblastoma-associated protein, A-box
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBL2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53278, highly similar to Retinoblastoma-like protein 2 (B7Z913_HUMAN)
  • Retinoblastoma-like 2 (P130) (Q8NE70_HUMAN)
  • pRb2 (RBL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q08999

UniProtKB/Swiss-Prot:

RBL2_HUMAN :
  • Belongs to the retinoblastoma protein (RB) family.
Family:
  • Belongs to the retinoblastoma protein (RB) family.
genes like me logo Genes that share domains with RBL2: view

Function for RBL2 Gene

Molecular function for RBL2 Gene

UniProtKB/Swiss-Prot 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 targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor.
GENATLAS Biochemistry:
retinoblastoma related protein RB2/p130,involved in cell cycle regulation interacting with E2F-like transcription factor and with cyclin (A/E) CDK2 complexes

Phenotypes From GWAS Catalog for RBL2 Gene

Gene Ontology (GO) - Molecular Function for RBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001012 RNA polymerase II regulatory region DNA binding IBA 21873635
GO:0001102 RNA polymerase II activating transcription factor binding IBA 21873635
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 1331501
GO:1990841 promoter-specific chromatin binding IDA 25100735
genes like me logo Genes that share ontologies with RBL2: view
genes like me logo Genes that share phenotypes with RBL2: view

Animal Models for RBL2 Gene

MGI Knock Outs for RBL2:
  • Rbl2 Rbl2<tm1Tyj>
  • Rbl2 Rbl2<tm1Mru>
  • Rbl2 Rbl2<tm1b(EUCOMM)Hmgu>
  • Rbl2 Rbl2<tm2.1Tyj>
  • Rbl2 Rbl2<tm1Htr>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBL2 Gene

Localization for RBL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBL2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBL2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA 21873635
GO:0005634 colocalizes_with nucleus IBA,IEA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA,IBA 21873635
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with RBL2: view

Pathways & Interactions for RBL2 Gene

PathCards logo

SuperPathways for RBL2 Gene

genes like me logo Genes that share pathways with RBL2: view

Pathways by source for RBL2 Gene

4 GeneGo (Thomson Reuters) pathways for RBL2 Gene
  • Cell cycle Cell cycle (generic schema)
  • Cell cycle ESR1 regulation of G1/S transition
  • Cell cycle Regulation of G1/S transition (part 2)
  • Cell cycle Role of SCF complex in cell cycle regulation
1 Qiagen pathway for RBL2 Gene
  • Macrophage Differentiation and Growth Inhibition by METS
2 Cell Signaling Technology pathways for RBL2 Gene

SIGNOR curated interactions for RBL2 Gene

Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS --
GO:0007049 cell cycle IEA --
GO:0007346 regulation of mitotic cell cycle IBA 21873635
genes like me logo Genes that share ontologies with RBL2: view

Drugs & Compounds for RBL2 Gene

(5) Drugs for RBL2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for RBL2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RBL2: view

Transcripts for RBL2 Gene

mRNA/cDNA for RBL2 Gene

5 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBL2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^
SP1: - - - - - -
SP2: - - - -
SP3:
SP4:
SP5:

ExUns: 22a · 22b ^ 23 ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for RBL2 Gene

GeneLoc Exon Structure for
RBL2

Expression for RBL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBL2 Gene

Protein differential expression in normal tissues from HIPED for RBL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (29.9), Liver, secretome (12.2), CD8 Tcells (8.6), and Blymphocyte (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBL2 Gene



Protein tissue co-expression partners for RBL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBL2

SOURCE GeneReport for Unigene cluster for RBL2 Gene:

Hs.513609

Evidence on tissue expression from TISSUES for RBL2 Gene

  • Liver(4.5)
  • Spleen(4.4)
  • Nervous system(3.7)
  • Lung(2.6)
  • Intestine(2.5)
  • Muscle(2.4)
  • Stomach(2.3)
  • Blood(2.2)
  • Kidney(2.2)
  • Skin(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with RBL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBL2 Gene

Orthologs for RBL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBL2 31 30
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RBL2 31 30
  • 93.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RBL2 31 30
  • 92.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rbl2 17 31 30
  • 87.7 (n)
rat
(Rattus norvegicus)
Mammalia Rbl2 30
  • 87.27 (n)
oppossum
(Monodelphis domestica)
Mammalia RBL2 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBL2 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBL2 31
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBL2 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbl2 30
  • 68.6 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30216 30
zebrafish
(Danio rerio)
Actinopterygii rbl2 31 30
  • 63.39 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rbf 31 30
  • 45.83 (n)
ManyToMany
Rbf2 31
  • 24 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006477 30
  • 40.41 (n)
worm
(Caenorhabditis elegans)
Secernentea lin-35 31
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4619 31
  • 36 (a)
OneToMany
Cin.4197 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4197 30
Species where no ortholog for RBL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBL2 Gene

ENSEMBL:
Gene Tree for RBL2 (if available)
TreeFam:
Gene Tree for RBL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBL2: view image

Paralogs for RBL2 Gene

Paralogs for RBL2 Gene

(3) SIMAP similar genes for RBL2 Gene using alignment to 5 proteins:

  • RBL2_HUMAN
  • B7Z913_HUMAN
  • F5H837_HUMAN
  • J3KSF7_HUMAN
  • Q8NE70_HUMAN
genes like me logo Genes that share paralogs with RBL2: view

Variants for RBL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBL2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
718815 Likely Benign: not provided 53,461,769(+) A/G MISSENSE_VARIANT
746810 Likely Benign: not provided 53,480,718(+) C/T SYNONYMOUS_VARIANT
782140 Benign: not provided 53,470,775(+) G/A SYNONYMOUS_VARIANT
782893 Benign: not provided 53,442,709(+) A/G SYNONYMOUS_VARIANT
782894 Benign: not provided 53,464,311(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RBL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RBL2 Gene

Variant ID Type Subtype PubMed ID
esv3638649 CNV loss 21293372
nsv471975 CNV novel sequence insertion 20440878
nsv978151 CNV duplication 23825009

Variation tolerance for RBL2 Gene

Residual Variation Intolerance Score: 6.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.90; 79.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBL2 Gene

Disorders for RBL2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for RBL2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinoblastoma
  • rb1
unilateral retinoblastoma
bilateral retinoblastoma
papilloma
  • papillomatosis
extraocular retinoblastoma
  • pediatric extraocular retinoblastoma
- elite association - COSMIC cancer census association via MalaCards
Search RBL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RBL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBL2 Gene

Publications for RBL2 Gene

  1. The pRb-related protein p130 is regulated by phosphorylation-dependent proteolysis via the protein-ubiquitin ligase SCF(Skp2). (PMID: 12435635) Tedesco D … Reed SI (Genes & development 2002) 3 4 23 54
  2. Genomic structure of the human retinoblastoma-related Rb2/p130 gene. (PMID: 8643454) Baldi A … Giordano A (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 54
  3. The adenovirus E1A-associated 130-kD protein is encoded by a member of the retinoblastoma gene family and physically interacts with cyclins A and E. (PMID: 8253383) Li Y … Whyte P (Genes & development 1993) 3 4 23 54
  4. Cloning of a new member of the retinoblastoma gene family (pRb2) which binds to the E1A transforming domain. (PMID: 8361765) Mayol X … Giordano A (Oncogene 1993) 2 3 4 54
  5. Isolation of the Rb-related p130 through its interaction with CDK2 and cyclins. (PMID: 8253384) Hannon GJ … Beach D (Genes & development 1993) 3 4 23 54

Products for RBL2 Gene

Sources for RBL2 Gene