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Gene Gene information from NCBI Gene database.
Entrez ID 55796
Gene name Muscleblind like splicing regulator 3
Gene symbol MBNL3
Synonyms (NCBI Gene)
CHCRMBLXMBLX39MBXL
Chromosome X
Chromosome location Xq26.2
Summary This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have
miRNA miRNA information provided by mirtarbase database.
841 Show/Hide all (841)
miRTarBase ID miRNA Experiments Reference
MIRT020645 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT026281 hsa-miR-192-5p Microarray 19074876
MIRT511169 hsa-miR-6512-5p HITS-CLIP 21572407
MIRT511168 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT522574 hsa-miR-1272 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17 Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300413 20564 ENSG00000076770
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NUK0
Protein name Muscleblind-like protein 3 (Cys3His CCG1-required protein) (Muscleblind-like X-linked protein) (Protein HCHCR)
Protein 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 inclus
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00642 zf-CCCH 175 → 201 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF14608 zf-CCCH_2 215 → 234 Domain
PF14608 zf-CCCH_2 53 → 72 Domain
PF14608 zf-CCCH_2 20 → 40 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the placenta. {ECO:0000269|PubMed:11929853}.
Sequence
MTAVNVALIRDTKWLTLEVCREFQRGTCSRADADCKFAHPPRVCHVENGRVVACFDSLKG
RCTRENCKYLHP
PPHLKTQLEINGRNNLIQQKTAAAMFAQQMQLMLQNAQMSSLGSFPMT
PSIPANPPMAFNPYIPHPGMGLVPAELVPNTPVLIPGNPPLAMPGAVGPKLMRSDKLEVC
REFQRGNCTRGENDCRYAHPT
DASMIEASDNTVTICMDYIKGRCSREKCKYFHPPAHLQA
RLKAAHHQMNHSAASAMALQPGTLQLIPKRSALEKPNGATPVFNPTVFHCQQALTNLQLP
QPAFIPAGPILCMAPASNIVPMMHGATPTTVSAATTPATSVPFAAPTTGNQLKF
Sequence length 354
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
MBNL3-related disorder Uncertain significance; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (9)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aural Atresia Congenital Congenital aural atresia Pubtator 36171401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 26621726
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32001790 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 36171401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28553938
★★★★★
★☆☆☆☆
Found in Text Mining only
Medulloblastoma Medulloblastoma Pubtator 28647700 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Myotonic Dystrophy Myotonic dystrophy Pubtator 34371182 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Nystagmus Nystagmus BEFREE 17102799
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis Pubtator 27856519 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only