KEGG   Homo sapiens (human): 166929
Entry
166929            CDS       T01001                                 
Symbol
SGMS2, CDL, SMS2
Name
(RefSeq) sphingomyelin synthase 2
  KO
K04714  shingomyelin synthase [EC:2.7.8.27]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04071  Sphingolipid signaling pathway
Disease
H02395  Calvarial doughnut lesions with bone fragility
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    166929 (SGMS2)
 09130 Environmental Information Processing
  09132 Signal transduction
   04071 Sphingolipid signaling pathway
    166929 (SGMS2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.8  Transferases for other substituted phosphate groups
    2.7.8.27  sphingomyelin synthase
     166929 (SGMS2)
SSDB
Motif
Pfam: PAP2_C PAP2
Other DBs
NCBI-GeneID: 166929
NCBI-ProteinID: NP_001129729
OMIM: 611574
HGNC: 28395
Ensembl: ENSG00000164023
UniProt: Q8NHU3
Position
4:107824563..107915047
AA seq 365 aa
MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYI
QIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDY
IDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLP
VPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFLFSGHTVTLTLTYLFI
KEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHSMANEKNL
KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGED
NEKST
NT seq 1098 nt   +upstreamnt  +downstreamnt
atggatatcatagagacagcaaaacttgaagaacatttggaaaatcaacccagtgatcct
acgaacacttatgcaagacccgctgaacctgttgaagaagaaaacaaaaatggcaatggt
aaacccaagagcttatccagtgggctgcgaaaaggcaccaaaaagtacccggactatatc
caaattgctatgcccactgaatcaaggaacaaatttccactagagtggtggaaaacgggc
attgccttcatatatgcagttttcaacctcgtcttgacaaccgtcatgatcacagttgta
catgagagggtccctcccaaggagcttagccctccactcccagacaagttttttgattac
attgatagggtgaaatgggcattttctgtatcagaaataaatgggattatattagttgga
ttatggatcacccagtggctgtttctgagatacaagtcaatagtgggacgcagattctgt
tttattattggaactttatacctgtatcgctgcattacaatgtatgttactactctacct
gtgcctggaatgcatttccagtgtgctccaaagctcaatggagactctcaggcaaaagtt
caacggattctacgattgatttctggtggtggattgtccataactggatcacatatctta
tgtggagacttcctcttcagcggtcacacggttacgctgacactgacttatttgttcatc
aaagaatattcgcctcgtcacttctggtggtatcatttaatctgctggctgctgagtgct
gccgggatcatctgcattcttgtagcacacgaacactacactatcgatgtgatcattgct
tattatatcacaacacgactgttttggtggtaccattcaatggccaatgaaaagaacttg
aaggtctcttcacagactaatttcttatctcgagcatggtggttccccatcttttatttt
tttgagaaaaatgtacaaggctcaattccttgctgcttctcctggccgctgtcttggcct
cctggctgcttcaaatcatcatgcaaaaagtattcacgggttcagaagattggtgaagac
aatgagaaatcgacctga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (26)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (29)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (27)   
DNA sequence (49)   
   RefSeq(nuc) (27)   
   GenBank (11)   
   EMBL (11)   
Protein domain (2)   
   Pfam (2)   
All databases (121)   

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