Homo sapiens (human): 166929
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Entry
166929 CDS
T01001
Symbol
SGMS2, CDL, SMS2
Name
(RefSeq) sphingomyelin synthase 2
KO
K04714
sphingomyelin synthase / ceramide phosphoethanolamine synthase / phosphatidylethanolamine phospholipase C [EC:
2.7.8.27
2.7.8.48
3.1.4.62
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00564
Glycerophospholipid metabolism
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
00564 Glycerophospholipid metabolism
166929 (SGMS2)
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)
2.7.8.48 ceramide phosphoethanolamine synthase
166929 (SGMS2)
3. Hydrolases
3.1 Acting on ester bonds
3.1.4 Phosphoric-diester hydrolases
3.1.4.62 phosphatidylethanolamine phospholipase C
166929 (SGMS2)
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SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
PAP2_C
PAP2
Motif
Other DBs
NCBI-GeneID:
166929
NCBI-ProteinID:
NP_001129729
OMIM:
611574
HGNC:
28395
Ensembl:
ENSG00000164023
UniProt:
Q8NHU3
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Position
4:107824563..107915047
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AA seq
365 aa
AA seq
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MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYI
QIAMPTESRNKFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDY
IDRVKWAFSVSEINGIILVGLWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLP
VPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFLFSGHTVTLTLTYLFI
KEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHSMANEKNL
KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGED
NEKST
NT seq
1098 nt
NT seq
+upstream
nt +downstream
nt
atggatatcatagagacagcaaaacttgaagaacatttggaaaatcaacccagtgatcct
acgaacacttatgcaagacccgctgaacctgttgaagaagaaaacaaaaatggcaatggt
aaacccaagagcttatccagtgggctgcgaaaaggcaccaaaaagtacccggactatatc
caaattgctatgcccactgaatcaaggaacaaatttccactagagtggtggaaaacgggc
attgccttcatatatgcagttttcaacctcgtcttgacaaccgtcatgatcacagttgta
catgagagggtccctcccaaggagcttagccctccactcccagacaagttttttgattac
attgatagggtgaaatgggcattttctgtatcagaaataaatgggattatattagttgga
ttatggatcacccagtggctgtttctgagatacaagtcaatagtgggacgcagattctgt
tttattattggaactttatacctgtatcgctgcattacaatgtatgttactactctacct
gtgcctggaatgcatttccagtgtgctccaaagctcaatggagactctcaggcaaaagtt
caacggattctacgattgatttctggtggtggattgtccataactggatcacatatctta
tgtggagacttcctcttcagcggtcacacggttacgctgacactgacttatttgttcatc
aaagaatattcgcctcgtcacttctggtggtatcatttaatctgctggctgctgagtgct
gccgggatcatctgcattcttgtagcacacgaacactacactatcgatgtgatcattgct
tattatatcacaacacgactgttttggtggtaccattcaatggccaatgaaaagaacttg
aaggtctcttcacagactaatttcttatctcgagcatggtggttccccatcttttatttt
tttgagaaaaatgtacaaggctcaattccttgctgcttctcctggccgctgtcttggcct
cctggctgcttcaaatcatcatgcaaaaagtattcacgggttcagaagattggtgaagac
aatgagaaatcgacctga
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