| Gene Symbol |
MBNL2
|
| Entrez Gene |
10150
|
| Alt Symbol |
MBLL, MBLL39, PRO2032
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
muscleblind-like splicing regulator 2
|
| Other Description |
muscleblind-like 2|muscleblind-like protein 1|muscleblind-like protein 2|muscleblind-like protein-like 39
|
| Swissprots |
Q8NEV3 Q58F19 Q8TD82 Q3SXY5 Q5VZF2
|
| Accessions |
EAX08968 EAX08969 EAX08970 EAX08971 Q5VZF2 AF061261 AAC67242 AF116683 AAF71103 AF339782 AF339832 AF491866 AAM09798 AK291727 BAF84416 AK304699 BAG65469 AK315844 BAF98735 AV733599 AY101770 AAM50085 BC020418 AAH20418 BC020430 BC032426 AAH32426 BC104038 AAI04039 BC104039 AAI04040 BC104040 AAI04041 BE246602 CA429672 CR749802 CAH18662 DW415513 EU446757 ABZ92286 XM_005254018 XP_005254075 XM_005254019 XP_005254076 XM_005254020 XP_005254077 XM_005254021 XP_005254078 XM_005254022 XP_005254079 XM_006719912 XP_006719975 XM_011521045 XP_011519347 NM_001306070 NP_001292999 NM_144778 NP_659002 NM_207304 NP_997187
|
| 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). {ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16273094, ECO:0000269|PubMed:16946708}.
|
| Subcellular Location |
Nucleus. Cytoplasm. Note=Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques. Location in the cytoplasm is microtubule-dependent. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.
|
| Tissue Specificity |
Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:11929853}.
|