KEGG   Homo sapiens (human): 6607
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)
SSDB
Motif
Pfam: SMN_Tudor SMN_YG-box SMN_G2-BD TUDOR
Other DBs
NCBI-GeneID: 6607
NCBI-ProteinID: NP_059107
OMIM: 601627
HGNC: 11118
Ensembl: ENSG00000205571
UniProt: Q16637
Structure
Position
5:70049523..70090528
AA seq 294 aa
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDIC
ETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR
ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKS
DNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP
PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN
NT seq 885 nt   +upstreamnt  +downstreamnt
atggcgatgagcagcggcggcagtggtggcggcgtcccggagcaggaggattccgtgctg
ttccggcgcggcacaggccagagcgatgattctgacatttgggatgatacagcactgata
aaagcatatgataaagctgtggcttcatttaagcatgctctaaagaatggtgacatttgt
gaaacttcgggtaaaccaaaaaccacacctaaaagaaaacctgctaagaagaataaaagc
caaaagaagaatactgcagcttccttacaacagtggaaagttggggacaaatgttctgcc
atttggtcagaagacggttgcatttacccagctaccattgcttcaattgattttaagaga
gaaacctgtgttgtggtttacactggatatggaaatagagaggagcaaaatctgtccgat
ctactttccccaatctgtgaagtagctaataatatagaacaaaatgctcaagagaatgaa
aatgaaagccaagtttcaacagatgaaagtgagaactccaggtctcctggaaataaatca
gataacatcaagcccaaatctgctccatggaactcttttctccctccaccaccccccatg
ccagggccaagactgggaccaggaaagccaggtctaaaattcaatggcccaccaccgcca
ccgccaccaccaccaccccacttactatcatgctggctgcctccatttccttctggacca
ccaataattcccccaccacctcccatatgtccagattctcttgatgatgctgatgctttg
ggaagtatgttaatttcatggtacatgagtggctatcatactggctattatatgggtttt
agacaaaatcaaaaagaaggaaggtgctcacattccttaaattaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (5)   
   KEGG DRUG (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (44)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (42)   
DNA sequence (116)   
   RefSeq(nuc) (42)   
   GenBank (37)   
   EMBL (37)   
3D Structure (15)   
   PDB (15)   
Protein domain (4)   
   Pfam (4)   
All databases (202)   

Download RDF
DBGET integrated database retrieval system