TISIDB

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Nucleus Cytoplasm Note=Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques (PubMed:16273094). Location in the cytoplasm is microtubule-dependent (PubMed:16273094). In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts (PubMed:11929853).
Domain	PF00642 Zinc finger C-x8-C-x5-C-x3-H type (and similar)
Function	Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM).

> Gene Ontology [ TOP ]
Biological Process	GO:0000375 RNA splicing, via transesterification reactions GO:0000377 RNA splicing, via transesterification reactions with bulged adenosine as nucleophile GO:0000380 alternative mRNA splicing, via spliceosome GO:0000381 regulation of alternative mRNA splicing, via spliceosome GO:0000398 mRNA splicing, via spliceosome GO:0006397 mRNA processing GO:0008380 RNA splicing GO:0043484 regulation of RNA splicing GO:0048024 regulation of mRNA splicing, via spliceosome GO:0050684 regulation of mRNA processing GO:1903311 regulation of mRNA metabolic process
Molecular Function	-
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	-

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between MBNL2 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining [ TOP ]
There is no record.

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

[ TOP ]

Statistical results of MBNL2 in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	logFC: 1.46; FDR: 0.001110	Sensitive to T cell-mediated killing
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

[ TOP ]

Points in the above scatter plot represent the expression difference of MBNL2 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	0.47	0.258
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.597	0.77
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	0.38	0.797
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.219	0.497
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.214	0.914
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	-0.222	0.931
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	-0.191	0.651
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	-0.043	0.982
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	-0.332	0.875
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	-0.318	0.818
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	0.407	0.837
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.099	0.279

> Mutation difference between responders and non-responders

[ TOP ]

Points in the above scatter plot represent the mutation difference of MBNL2 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	0	0	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	0	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	3.7	3.7	0.27
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	3.7	3.7	0.314
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	0	0	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	0	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	0	0	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0	0	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	0	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	0	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	0	0	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	0	0	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	1

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of MBNL2. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of MBNL2. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by MBNL2. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of MBNL2. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of MBNL2 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between MBNL2 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	MBNL2
Name	muscleblind-like splicing regulator 2
Aliases	MBLL; MBLL39; muscleblind-like 2 (Drosophila); PRO2032; muscleblind-like 2; muscleblind-like protein-like 39 ......
Chromosomal Location	13q31.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting MBNL2 collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

Browse MBNL2