| Gene Symbol |
SMN2
|
| Entrez Gene |
6607
|
| Alt Symbol |
BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
survival of motor neuron 2, centromeric
|
| Other Description |
component of gems 1|gemin-1|survival motor neuron protein|tudor domain containing 16B
|
| Swissprots |
A8K0V4 Q16637 Q96J51 Q549U5 Q13119
|
| Accessions |
AAC83178 AA029652 AI312583 AK289669 BAF82358 BC000908 AAH00908 BC015308 AAH15308 BC070242 AAH70242 CN272420 DQ185039 DQ891546 ABM82472 DQ894734 ABM85660 EU176225 ABW03676 JQ690861 AFJ92627 JQ690862 AFJ92628 JQ690863 AFJ92629 JQ690864 AFJ92630 JQ690865 AFJ92631 JQ690866 AFJ92632 JQ732167 AFM68923 U21914 AAA64505 XM_011543599 XP_011541901 XM_011543600 XP_011541902 XM_011543601 XP_011541903 XM_011543602 XP_011541904 XM_011543603 XP_011541905 XM_011547356 XP_011545658 XM_011547357 XP_011545659 XM_011547358 XP_011545660 XM_011547359 XP_011545661 XM_011547360 XP_011545662 NM_017411 NP_059107 NM_022875 NP_075013 NM_022876 NP_075014 NM_022877 NP_075015
|
| Function |
The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. May also play a role in the metabolism of small nucleol
|
| Subcellular Location |
Cytoplasm. Nucleus, gem. Nucleus, Cajal body. Cytoplasmic granule. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}. Note=Colocalizes with Actn at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules. Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies. {ECO:0000250}.
|
| Tissue Specificity |
Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level). {ECO:0000269|PubMed:11551898, ECO:0000269|PubMed:9259265}.
|
| Top Pathways |
RNA transport
|
