| Gene Symbol | SMAD2 |
|---|---|
| Entrez Gene | 4087 |
| Alt Symbol | JV18, JV18-1, MADH2, MADR2, hMAD-2, hSMAD2 |
| Species | Human |
| Gene Type | protein-coding |
| Description | SMAD family member 2 |
| Other Description | MAD homolog 2|SMAD, mothers against DPP homolog 2|Sma- and Mad-related protein 2|mother against DPP homolog 2|mothers against decapentaplegic homolog 2 |
| Swissprots | Q15796 |
| Accessions | AAC39657 EAW62914 EAW62915 EAW62916 EAW62917 Q15796 AA081871 AA418737 AF027964 AAC51918 AI087928 AI453799 AI765747 AK126373 AK299218 BAH12971 AK312963 BAG35802 AY134745 AAN08619 BC014840 AAH14840 BC025699 AAH25699 BI258844 BQ018815 BQ900993 BT007422 AAP36090 BU167620 BU517178 BX491944 CR992221 DB035686 DB462454 DC371139 DQ891501 ABM82427 DQ893532 ABM84458 DQ893746 ABM84672 DQ894693 ABM85619 U59911 AAC50789 U65019 AAB17054 U68018 AAB17087 XM_005258259 XP_005258316 XM_006722451 XP_006722514 XM_011525983 XP_011524285 XM_011525984 XP_011524286 XM_011525985 XP_011524287 XM_011525986 XP_011524288 NM_001003652 NP_001003652 NM_001135937 NP_001129409 NM_005901 NP_005892 |
| Function | Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. {ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:16862174, ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:19289081, ECO:0000269|PubMed:9892009}. |
| Subcellular Location | Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4. On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1. |
| Tissue Specificity | Expressed at high levels in skeletal muscle, endothelial cells, heart and placenta. {ECO:0000269|PubMed:21599657}. |
| Top Pathways | Chagas disease (American trypanosomiasis), Inflammatory bowel disease (IBD), Signaling pathways regulating pluripotency of stem cells, Proteoglycans in cancer, Hippo signaling pathway |