RBL2 (RB transcriptional corepressor like 2)

Gene Basic Information

Gene Basic Information

symbol:
RBL2
locus group:
protein-coding gene
location:
16q12.2
gene_family:
alias symbol:
Rb2|p130
alias name:
None
entrez id:
5934
ensembl gene id:
ENSG00000103479
ucsc gene id:
uc002ehi.5
refseq accession:
NM_005611
hgnc_id:
HGNC:9894
approved reserved:
1994-01-17

Chromosome Location

Chromosome Location

16q12.2

Gene Summary

Gene Summary

RBL2（Retinoblastoma-like 2），也称为p130，是视网膜母细胞瘤蛋白（RB）基因家族的成员之一，该家族还包括RB1和RBL1（p107）。这些基因的共同特点是编码肿瘤抑制蛋白，通过调控细胞周期进程（特别是G1期到S期的过渡）来抑制细胞过度增殖。RBL2的主要功能是与转录因子E2F家族成员结合，抑制其活性，从而阻止细胞周期相关基因的表达，确保细胞在DNA损伤或其他异常情况下不会不受控地分裂。RBL2在多种组织中广泛表达，尤其在终末分化细胞中发挥维持细胞静止状态的作用。RBL2的突变或表达异常可能导致细胞周期失控，与多种癌症（如肺癌、乳腺癌和结直肠癌）的发生密切相关。当RBL2表达降低时，细胞更容易进入增殖状态，增加肿瘤风险；而过表达则可能导致细胞周期停滞，影响组织再生或修复。此外，RBL2还参与细胞衰老、分化和凋亡等过程，并与病毒感染（如HPV）相关的癌变机制有关。RBL2的功能也受CDK（周期蛋白依赖性激酶）介导的磷酸化调控，其失活突变或启动子甲基化导致的沉默常见于某些恶性肿瘤。在基因家族中，RB1、RBL1和RBL2均通过类似的E2F调控通路抑制细胞增殖，但它们在组织分布和细胞周期阶段中的作用略有差异。例如，RBL2在G0期和早期G1期作用更突出，而RB1在G1晚期调控中更关键。研究RBL2有助于理解肿瘤发生机制并开发靶向细胞周期的抗癌疗法。

OMIM entry for RBL2     Wikipedia entry for RBL2

Gene Sequence

Gene Sequence

Nucleotide sequence of RBL2:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MPSGGDQSPP PPPPPPAAAA SDEEEEDDGE AEDAAPPAES
41PTPQIQQRFD ELCSRLNMDE AARAEAWDSY RSMSESYTLE
81 GNDLHWLAC ALYVACRKSV PTVSKGTVEG NYVSLTRILK
121CSEQSLIEFF NKMKKWEDMA NLPPHFRERT ERLERNFTVS
161A VIFKKYEP IFQDIFKYPQ EEQPRQQRGR KQRRQPCTVS
201EIFHFCWVLF IYAKGNFPMI SDDLVNSYHL LLCALDLVYG
241NA LQCSNRK ELVNPNFKGL SEDFHAKDSK PSSDPPCIIE
281KLCSLHDGLV LEAKGIKEHF WKPYIRKLYE KKLLKGKEEN
321LTG FLEPGN FGESFKAINK AYEEYVLSVG NLDERIFLGE
361DAEEEIGTLS RCLNAGSGTE TAERVQMKNI LQQHFDKSKA
401LRIS TPLTG VRYIKENSPC VTPVSTATHS LSRLHTMLTG
441LRNAPSEKLE QILRTCSRDP TQAIANRLKE MFEIYSQHFQ
481PDEDF SNCA KEIASKHFRF AEMLYYKVLE SVIEQEQKRL
521GDMDLSGILE QDAFHRSLLA CCLEVVTFSY KPPGNFPFIT
561EIFDVP LYH FYKVIEVFIR AEDGLCREVV KHLNQIEEQI
601LDHLAWKPES PLWEKIRDNE NRVPTCEEVM PPQNLERADE
641ICIAGSP LT PRRVTEVRAD TGGLGRSITS PTTLYDRYSS
681PPASTTRRRL FVENDSPSDG GTPGRMPPQP LVNAVPVQNV
721SGETVSVT P VPGQTLVTMA TATVTANNGQ TVTIPVQGIA
761NENGGITFFP VQVNVGGQAQ AVTGSIQPLS AQALAGSLSS
801QQVTGTTLQ VPGQVAIQQI SPGGQQQKQG QSVTSSSNRP
841RKTSSLSLFF RKVYHLAAVR LRDLCAKLDI SDELRKKIWT
881CFEFSIIQCP ELMMDRHLD QLLMCAIYVM AKVTKEDKSF
921QNIMRCYRTQ PQARSQVYRS VLIKGKRKRR NSGSSDSRSH
961QNSPTELNKD R TSRDSSPV MRSSSTLPVP QPSSAPPTPT
1001RLTGANSDME EEERGDLIQF YNNIYIKQIK TFAMKYSQAN
1041MDAPPLSPYP FV RTGSPRR IQLSQNHPVY ISPHKNETML
1081SPREKIFYYF SNSPSKRLRE INSMIRTGET PTKKRGILLE
1121DGSESPAKRI CPE NHSALL RRLQDVANDR GSH
Structure predicted by AlphaFold DB(UniProt: Q08999). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of RBL2:           Showing partial SNPs
rs16745       rs4002164       rs7192937       rs28670961       rs72801859       rs79598128       rs113137339       rs113483533       rs140700255       rs142391219       rs143696546       rs144474611       rs146426685       rs146888073       rs147463162       rs148782697       rs150012025      

Gene Expression

Gene Expression

Tissue expression of RBL2:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TCAGAGCAGAGCTTAATCGA
59
ACGTTCTCTGAAATGTGGG
58
CAAGGGAAATGATCTTCATTGG
58
ATTCGATTAAGCTCTGCTCTG
58
GTGCTAAAGAAATTGCCAGC
58
GGAACGCATCTTGTTCCAG
59
AAGATAGAACCAGTAGAGACTCC
59
CTTCCATGTCACTGTTGGC
59
AAATTTGCATTGCTGGCTC
58
ATGTTATGCTCCTTCCAAGTC
58
AAATTTGCATTGCTGGCTC
58
ATGTTATGCTCCTTCCAAGTC
58
GGAGGGAAATGATCTTCATTGG
59
ATTCGATTAAGCTCTGCTCTG
58
GAGTAGCTGTGAATACAGTAAAGC
60
TATCCGCTCATCTAAATTCCCA
59
GAGAGTTTATGGAGTCTCGC
58
AGAAGAATCGCTTGAACCTG
58
TTCTTATAAGCCTCCTGGGA
58
TACAAAGGCCATCTTCTGCT
60

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
CTCF
RBL2
Unknown
21325284
EGR1
RBL2
Activation
22431919
NAB2
RBL2
Activation
22431919
RBL2
BRCA1
Repression
17106239; 21701264
RBL2
DNMT3B
Repression
24316981
RBL2
E2F4
Unknown
8575214
RBL2
RAD51
Repression
21701264
TWIST1
RBL2
Repression
19051271
TWIST2
RBL2
Repression
19051271

Gene Ontology

Subcellular localization of RBL2 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for RBL2:

GO ID
Protein
Source DB
GO:0005634
A0A0A0MTM7 (UniProtKB)
IEA
GO:0005667
A0A0A0MTM7 (UniProtKB)
IEA
GO:0006357
A0A0A0MTM7 (UniProtKB)
IEA
GO:0007049
A0A0A0MTM7 (UniProtKB)
IEA
GO:0051726
A0A0A0MTM7 (UniProtKB)
IEA
GO:0005634
F5H837 (UniProtKB)
IEA
GO:0005667
F5H837 (UniProtKB)
IEA
GO:0006357
F5H837 (UniProtKB)
IEA
GO:0007049
F5H837 (UniProtKB)
IEA
GO:0051726
F5H837 (UniProtKB)
IEA
GO:0005667
J3KSF7 (UniProtKB)
IEA
GO:0006357
J3KSF7 (UniProtKB)
IEA
GO:0007049
J3KSF7 (UniProtKB)
IEA
GO:0051726
J3KSF7 (UniProtKB)
IEA
GO:0003677
Q08999 (UniProtKB)
IEA
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005515
Q08999 (UniProtKB)
IPI
GO:0005634
Q08999 (UniProtKB)
IDA
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005654
Q08999 (UniProtKB)
TAS
GO:0005667
Q08999 (UniProtKB)
IEA
GO:0005730
Q08999 (UniProtKB)
IDA
GO:0005737
Q08999 (UniProtKB)
IDA
GO:0006351
Q08999 (UniProtKB)
IEA
GO:0006357
Q08999 (UniProtKB)
IEA
GO:0006977
Q08999 (UniProtKB)
TAS
GO:0010629
Q08999 (UniProtKB)
IMP
GO:0016568
Q08999 (UniProtKB)
IEA
GO:0043550
Q08999 (UniProtKB)
IDA
GO:0070062
Q08999 (UniProtKB)
IDA
GO:1990841
Q08999 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating RBL2:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Chronic Lymphocytic Leukemia 0.122638474 2 0 BeFree_CTD_human_GAD
ovarian neoplasm 0.12 1 0 CTD_human
Retinoblastoma 0.006786047 25 0 BeFree
Liver carcinoma 0.005720142 3 0 BeFree_LHGDN
Mammary Neoplasms 0.0054487 2 0 LHGDN
Lung Neoplasms 0.0054487 2 0 LHGDN
Prostatic Neoplasms 0.0054487 2 0 LHGDN
Squamous cell carcinoma 0.003810118 4 0 BeFree_LHGDN
Burkitt Lymphoma 0.002995792 1 0 BeFree_LHGDN
Lymphoma, AIDS-Related 0.002995792 2 0 BeFree_LHGDN

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