Rbl2 RB transcriptional corepressor like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rbl2provided by MGI
Official Full Name: RB transcriptional corepressor like 2provided by MGI
Primary source: MGI:MGI:105085
See related: Ensembl:ENSMUSG00000031666 AllianceGenome:MGI:105085
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rb2; PRB2; p130; RBR-2
Summary: Predicted to enable RNA polymerase II transcription regulatory region sequence-specific DNA binding activity and promoter-specific chromatin binding activity. Predicted to be involved in cell differentiation; negative regulation of G1/S transition of mitotic cell cycle; and regulation of lipid kinase activity. Predicted to act upstream of or within negative regulation of gene expression. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and retina. Used to study lung small cell carcinoma; retinoblastoma; and urinary bladder cancer. Orthologous to human RBL2 (RB transcriptional corepressor like 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 14.0), bladder adult (RPKM 10.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C4; 8 44.25 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (91796685..91850472)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (91070057..91123844)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results show that ablation of the three members of the retinoblastoma family (RB1, p107 and p130) which targets a variety of adult lung epithelial cells, leads to spontaneous velopment of tumorlets, benign precancerous neuroendocrine (NE) lesions that do not progress to malignant tumors. Data imply the requirement of other oncogenic signaling pathways for full transformation in NE lung lesions mutant for the Rb family.
Title: Ablating all three retinoblastoma family members in mouse lung leads to neuroendocrine tumor formation.
Findings indicate that inactivation of the Rb family proteins (Rb, p107, and p130) in hematopoietic stem cells (HSCs) progressively impairs their homeostasis, which is rescued upon repression of suppressor of cytokine signaling 3 protein (Socs3) expression in triple knockout (TKO) HSCs.
Title: Rb family proteins enforce the homeostasis of quiescent hematopoietic stem cells by repressing Socs3 expression.
Loss of Rb 130 gene is associated with retinoblastoma.
Title: Genomic landscape of retinoblastoma in Rb(-/-) p130(-/-) mice resembles human retinoblastoma.
Deletion of Rb or p130 leads to impaired repression of Sox2, a defect amplified by inactivation of p53. Identify binding of pRb and p130 to an enhancer with crucial regulatory activity on Sox2 expression.
Title: Transcriptional regulation of Sox2 by the retinoblastoma family of pocket proteins.
In skeletal dysplasias cell cycle progression is compromised in the G1 phase due to reduced phosphorylation of the pocket protein p130 leading to inhibition of transcription factors of the E2F family.
Title: Altered signaling in the G1 phase deregulates chondrocyte growth in a mouse model with proteoglycan undersulfation.
Following stress exposure, E2F4-p130 complexes are lost rapidly along with the presence of E2F4 at E2F-containing B-Myb promoter sites.
Title: Regulation of ischemic neuronal death by E2F4-p130 protein complexes.
PRMT5 knockdown in non-Hodgkin lymphoma cell lines and primary lymphoma cells leads to RBL2 derepression and RB1 reactivation, which in turn inhibit PRC2 expression.
Title: Protein arginine methyltransferase 5 (PRMT5) inhibition induces lymphoma cell death through reactivation of the retinoblastoma tumor suppressor pathway and polycomb repressor complex 2 (PRC2) silencing.
Rb, p107 and p130 epigenetically protect newly born cortical neurons from DNA damage and cell division
Title: Cortical excitatory neurons become protected from cell division during neurogenesis in an Rb family-dependent manner.
The balance between phosphorylation and acetylation of Rb2/p130 is essential for its biological function in cell cycle control.
Title: In vitro phosphorylation and acetylation of the murine pocket protein Rb2/p130.
Rb2 coimmunolocalizes with the chromatin insulator CCCTC-binding factor (CTCF) and BORIS in T-antigen-positive but not in T-antigen-negative cells.
Title: Integrating role of T antigen, Rb2/p130, CTCF and BORIS in mediating non-canonical endoplasmic reticulum-dependent death pathways triggered by chronic ER stress in mouse medulloblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of cell cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of lipid kinase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: retinoblastoma-like protein 2

Names: 130 kDa retinoblastoma-associated protein; 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)

NM_001282000.1 → NP_001268929.1 retinoblastoma-like protein 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AI323872, AK160027, BY270001, CF736271

Consensus CDS

CCDS85581.1

UniProtKB/TrEMBL

A0A1B0GRM0, Q8VCD1

Related

ENSMUSP00000147579.2, ENSMUST00000211136.2

Conserved Domains (3) summary

pfam01857
Location:788 → 968

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:371 → 563

RB_A; Retinoblastoma-associated protein A domain

pfam11934
Location:101 → 210

DUF3452; Domain of unknown function (DUF3452)
NM_001282001.1 → NP_001268930.1 retinoblastoma-like protein 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.

Source sequence(s)

AI323872, AK160027, BY270001, CF736271

Consensus CDS

CCDS85580.1

UniProtKB/TrEMBL

A0A1B0GR06, Q8VCD1

Related

ENSMUSP00000147327.2, ENSMUST00000209518.2

Conserved Domains (3) summary

pfam01857
Location:821 → 1001

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:414 → 596

RB_A; Retinoblastoma-associated protein A domain

pfam11934
Location:101 → 233

DUF3452; Domain of unknown function (DUF3452)
NM_011250.4 → NP_035380.3 retinoblastoma-like protein 2 isoform 1

See identical proteins and their annotated locations for NP_035380.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AI323872, AK160027, BY270001, CF736271

Consensus CDS

CCDS22518.1

UniProtKB/Swiss-Prot

Q3TVP8, Q64700

UniProtKB/TrEMBL

Q8VCD1

Related

ENSMUSP00000034091.8, ENSMUST00000034091.8

Conserved Domains (3) summary

pfam01857
Location:831 → 1011

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:414 → 606

RB_A; Retinoblastoma-associated protein A domain

pfam11934
Location:101 → 233

DUF3452; Domain of unknown function (DUF3452)