InnateDB Protein
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IDBP-26419.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SMN2
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Protein Name
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survival of motor neuron 2, centromeric
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000370119
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InnateDB Gene
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IDBG-26417 (SMN2)
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Protein Structure
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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 nucleolar ribonucleoprotein (snoRNPs). {ECO:0000269PubMed:18984161, ECO:0000269PubMed:23063131, ECO:0000269PubMed:9845364}.
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Subcellular Localization |
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}.
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Disease Associations |
Spinal muscular atrophy 1 (SMA1) [MIM:253300]: A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7- skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. {ECO:0000269PubMed:10732817, ECO:0000269PubMed:15249625, ECO:0000269PubMed:15580564, ECO:0000269PubMed:7813012, ECO:0000269PubMed:9147655}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinal muscular atrophy 2 (SMA2) [MIM:253550]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood. {ECO:0000269PubMed:10732802, ECO:0000269PubMed:9158159, ECO:0000269PubMed:9837824}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinal muscular atrophy 3 (SMA3) [MIM:253400]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood. {ECO:0000269PubMed:10732817, ECO:0000269PubMed:9158159, ECO:0000269PubMed:9837824}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinal muscular atrophy 4 (SMA4) [MIM:271150]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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:0000269PubMed:11551898, ECO:0000269PubMed:9259265}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
20
[view]
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Protein-Protein |
20
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002999
Tudor domain
IPR010304
Survival motor neuron
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PFAM |
PF00567
PF06003
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PRINTS |
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PIRSF |
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SMART |
SM00333
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TIGRFAMs |
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Modification |
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SwissProt |
Q16637
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PhosphoSite |
PhosphoSite-Q16637
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TrEMBL |
Q9UNT8
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UniProt Splice Variant |
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Entrez Gene |
6607
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UniGene |
Hs.202179
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RefSeq |
NP_075013
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HUGO |
HGNC:11118
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OMIM |
601627
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CCDS |
CCDS4007
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HPRD |
09036
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IMGT |
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EMBL |
AC004999
AC005031
AF092925
AK289669
BC000908
BC015308
BC062723
BC070242
U18423
U21914
U43876
U43877
U43878
U43880
U43881
U43882
U43883
U80017
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GenPept |
AAA64505
AAA66242
AAC50473
AAC52048
AAC62262
AAC83178
AAD37484
AAH00908
AAH15308
AAH62723
AAH70242
BAF82358
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