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Aliases for RBL2 Gene

Aliases for RBL2 Gene

  • Retinoblastoma-Like 2 2 3 5
  • 130 KDa Retinoblastoma-Associated Protein 3 4
  • Retinoblastoma-Related Protein 2 3 4
  • RBR-2 3 4
  • P130 3 4
  • PRB2 3 4
  • Rb2 3 4

External Ids for RBL2 Gene

Previous GeneCards Identifiers for RBL2 Gene

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

Summaries for RBL2 Gene

GeneCards Summary for RBL2 Gene

RBL2 (Retinoblastoma-Like 2) is a Protein Coding gene. Diseases associated with RBL2 include retinoblastoma and retinal cancer. Among its related pathways are Gene Expression and Cell Cycle, Mitotic. An important paralog of this gene is RB1.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBL2 Gene

Genomics for RBL2 Gene

Regulatory Elements for RBL2 Gene

Promoters for RBL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBL2 Gene

Chromosome:
16
Start:
53,433,977 bp from pter
End:
53,491,649 bp from pter
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).

    Three dimensional structures from OCA and Proteopedia for RBL2 Gene

    Alternative splice isoforms for RBL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBL2 Gene

Proteomics data for RBL2 Gene at MOPED

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 Lys 384
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RBL2 Gene

Domains & Families for RBL2 Gene

Protein Domains for RBL2 Gene

Suggested Antigen Peptide Sequences for RBL2 Gene

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

No data available for Gene Families for RBL2 Gene

Function for RBL2 Gene

Molecular function for RBL2 Gene

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
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.
genes like me logo Genes that share phenotypes with RBL2: view

Animal Models for RBL2 Gene

MGI Knock Outs for RBL2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RBL2 Gene COMPARTMENTS Subcellular localization image for RBL2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with RBL2: view

Pathways & Interactions for RBL2 Gene

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

SIGNOR curated interactions for RBL2 Gene

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:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS --
GO:0043550 regulation of lipid kinase activity IDA 16286473
GO:0051726 regulation of cell cycle IEA --
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

Unigene Clusters for RBL2 Gene

Retinoblastoma-like 2 (p130):
Representative Sequences:

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
ECgene alternative splicing isoforms for
RBL2

Expression for RBL2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for RBL2 Gene



SOURCE GeneReport for Unigene cluster for RBL2 Gene Hs.513609

genes like me logo Genes that share expression patterns with RBL2: view

Protein tissue co-expression partners for RBL2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia RBL2 35
  • 92.68 (n)
  • 96.14 (a)
RBL2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBL2 35
  • 93.97 (n)
  • 97.28 (a)
RBL2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbl2 35
  • 87.7 (n)
  • 91.82 (a)
Rbl2 16
Rbl2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBL2 35
  • 99.77 (n)
  • 99.91 (a)
RBL2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbl2 35
  • 87.27 (n)
  • 91.18 (a)
oppossum
(Monodelphis domestica)
Mammalia RBL2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBL2 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBL2 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBL2 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbl2 35
  • 68.6 (n)
  • 68.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30216 35
zebrafish
(Danio rerio)
Actinopterygii rbl2 35
  • 63.39 (n)
  • 64.97 (a)
rbl2 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006477 35
  • 40.41 (n)
  • 28.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rbf 35
  • 45.83 (n)
  • 34.95 (a)
Rbf 36
  • 30 (a)
ManyToMany
Rbf2 36
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-35 36
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4197 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4619 36
  • 36 (a)
OneToMany
Species with no ortholog for RBL2:
  • 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)

Paralogs for RBL2 Gene

Paralogs for RBL2 Gene

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

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

Variants for RBL2 Gene

Sequence variations from dbSNP and Humsavar for RBL2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs17800727 - 53,447,098(+) TATAT(A/G)TGCAA reference, missense, utr-variant-5-prime
VAR_069377 -
rs3929 -- 53,490,396(+) CTGAT(C/G)AGTTA intron-variant, utr-variant-3-prime
rs10748 -- 53,470,809(+) ATGAA(C/T)TGAGG reference, synonymous-codon
rs14725 -- 53,470,814(+) NTGAG(A/G)AAAAA reference, synonymous-codon

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)

Relevant External Links for RBL2 Gene

HapMap Linkage Disequilibrium report
RBL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RBL2 Gene

Disorders for RBL2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinoblastoma
  • retinoblastoma, trilateral
retinal cancer
  • malignant neoplasm of retina
ocular cancer
  • eye neoplasm
sensory system cancer
peters anomaly
  • peters-plus syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RBL2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBL2

Genetic Association Database (GAD)
RBL2
Human Genome Epidemiology (HuGE) Navigator
RBL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBL2
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. Genomic structure of the human retinoblastoma-related Rb2/p130 gene. (PMID: 8643454) Baldi A. … Giordano A. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 67
  2. Low- and high-risk human papillomavirus E7 proteins regulate p130 differently. (PMID: 20189212) Barrow-Laing L. … Roman A. (Virology 2010) 3 23
  3. LIN54 is an essential core subunit of the DREAM/LINC complex that binds to the cdc2 promoter in a sequence-specific manner. (PMID: 19725879) Schmit F. … Gaubatz S. (FEBS J. 2009) 3 23
  4. Expression of p107 and p130 during human adipose-derived stem cell adipogenesis. (PMID: 18086563) Ross A.S. … McGehee R.E. (Biochem. Biophys. Res. Commun. 2008) 3 23
  5. Distinct roles for p107 and p130 in Rb-independent cellular senescence. (PMID: 18418057) Lehmann B.D. … Terrian D.M. (Cell Cycle 2008) 3 23

Products for RBL2 Gene

Sources for RBL2 Gene

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