Homo sapiens (human): 6607
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Entry
6607 CDS
T01001
Symbol
SMN2, BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
Name
(RefSeq) survival of motor neuron 2, centromeric
KO
K13129
survival motor neuron protein
Organism
hsa
Homo sapiens (human)
Disease
H00455
Spinal muscular atrophy
Drug target
Branaplam (
DG03212
):
D12272
D12273
Nusinersen (
DG02002
):
D10791
<JP/US>
D10881
Risdiplam:
D11406
<JP/US>
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03041 Spliceosome [BR:
hsa03041
]
6607 (SMN2)
Spliceosome [BR:
hsa03041
]
Other splicing related proteins
Proteins involved in snRNP biogenesis
SMN complex factors
6607 (SMN2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SMN_Tudor
SMN_YG-box
SMN_G2-BD
TUDOR
Motif
Other DBs
NCBI-GeneID:
6607
NCBI-ProteinID:
NP_059107
OMIM:
601627
HGNC:
11118
Ensembl:
ENSG00000205571
UniProt:
Q16637
Structure
PDB
PDBj
LinkDB
All DBs
Position
5:70049523..70090528
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AA seq
294 aa
AA seq
DB search
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDIC
ETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR
ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKS
DNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP
PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN
NT seq
885 nt
NT seq
+upstream
nt +downstream
nt
atggcgatgagcagcggcggcagtggtggcggcgtcccggagcaggaggattccgtgctg
ttccggcgcggcacaggccagagcgatgattctgacatttgggatgatacagcactgata
aaagcatatgataaagctgtggcttcatttaagcatgctctaaagaatggtgacatttgt
gaaacttcgggtaaaccaaaaaccacacctaaaagaaaacctgctaagaagaataaaagc
caaaagaagaatactgcagcttccttacaacagtggaaagttggggacaaatgttctgcc
atttggtcagaagacggttgcatttacccagctaccattgcttcaattgattttaagaga
gaaacctgtgttgtggtttacactggatatggaaatagagaggagcaaaatctgtccgat
ctactttccccaatctgtgaagtagctaataatatagaacaaaatgctcaagagaatgaa
aatgaaagccaagtttcaacagatgaaagtgagaactccaggtctcctggaaataaatca
gataacatcaagcccaaatctgctccatggaactcttttctccctccaccaccccccatg
ccagggccaagactgggaccaggaaagccaggtctaaaattcaatggcccaccaccgcca
ccgccaccaccaccaccccacttactatcatgctggctgcctccatttccttctggacca
ccaataattcccccaccacctcccatatgtccagattctcttgatgatgctgatgctttg
ggaagtatgttaatttcatggtacatgagtggctatcatactggctattatatgggtttt
agacaaaatcaaaaagaaggaaggtgctcacattccttaaattaa
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