KEGG   Homo sapiens (human): 54551
Entry
54551             CDS       T01001                                 
Symbol
MAGEL2, NDNL1, PWLS, SHFYNG, nM15
Name
(RefSeq) MAGE family member L2
  KO
K23950  MAGE-like protein 2
Organism
hsa  Homo sapiens (human)
Disease
H02325  Schaaf-Yang syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    54551 (MAGEL2)
Membrane trafficking [BR:hsa04131]
 Protein recycling
  Others
   Others
    54551 (MAGEL2)
SSDB
Motif
Pfam: MAGE
Other DBs
NCBI-GeneID: 54551
NCBI-ProteinID: NP_061939
OMIM: 605283
HGNC: 6814
Ensembl: ENSG00000254585
UniProt: Q9UJ55
Position
15:complement(23643549..23647867)
AA seq 1249 aa
MSQLSKNLGDSSPPAEAPKPPVYSRPTVLMRAPPASSRAPPVPWDPPPIDLQASLAAWQA
PQPAWEAPQGQLPAPVVPMTQPPALGGPIVPAPPLGGPMGKPPTPGVLMVHPPPPGAPMA
QPPTPGVLMVHPSAPGAPMAHPPPPGTPMSHPPPPGTPMAHPPPPGTPMAHPPPPGTPMV
HPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAQPPAPGVLMA
QPLTPGVLMVQPAAPGAPMVQPPPAAMMTQPQPSGAPMAKPPGPGVLMIHPPGARAPMTQ
PPASGAPMAQPAAPPAQPMAPPAQPMASWAPQAQPLILQIQSQVIRAPPQVPQGPQAPPA
QLATPPGWQATSPGWQATQQGWQATPLTWQTTQVTWQAPAVTWQVPPPMRQGPPPIRPGP
PPIRPGPPPVRQAPPLIRQAPPVIRQAPPVIRQAPPVIRQAPAVIRQAPPVIRQAPPVIR
QAPPVIRQAPPLIRQAPPPIRPAPQVLATQPPLWQALPPPPPLRQAPQARLPAPQVQAAP
QVPTAPPATQVPAAPPAGPQVPQPVLPAPLSAPLSAPQAVHCPSIIWQAPKGQPPVPHEI
PTSMEFQEVQQTQALAWQAQKAPTHIWQPLPAQEAQRQAPPLVQLEQPFQGAPPSQKAVQ
IQLPPQQAQASGPQAEVPTLPLQPSWQAPPAVLQAQPGPPVAAANFPLGSAKSLMTPSGE
CRASSIDRRGSSKERRTSSKERRAPSKDRMIFAATFCAPKAVSAARAHLPAAWKNLPATP
ETFAPSSSVFPATSQFQPASLNAFKGPSAASETPKSLPYALQDPFACVEALPAVPWVPQP
NMNASKASQAVPTFLMATAAAPQATATTQEASKTSVEPPRRSGKATRKKKHLEAQEDSRG
HTLAFHDWQGPRPWENLNLSDWEVQSPIQVSGDWEHPNTPRGLSGWEGPSTSRILSGWEG
PSASWALSAWEGPSTSRALGLSESPGSSLPVVVSEVASVSPGSSATQDNSKVEAQPLSPL
DERANALVQFLLVKDQAKVPVQRSEMVKVILREYKDECLDIINRANNKLECAFGYQLKEI
DTKNHAYIIINKLGYHTGNLVASYLDRPKFGLLMVVLSLIFMKGNCVREDLIFNFLFKLG
LDVRETNGLFGNTKKLITEVFVRQKYLEYRRIPYTEPAEYEFLWGPRAFLETSKMLVLRF
LAKLHKKDPQSWPFHYLEALAECEWEDTDEDEPDTGDSAHGPTSRPPPR
NT seq 3750 nt   +upstreamnt  +downstreamnt
atgtcgcagctaagtaagaatctgggtgactcgagtcctccggcggaggccccgaagccg
cctgtctatagccgccctacggttctgatgcgggccccgcccgcttcctcccgggctccg
ccagtcccttgggatccacctccaattgacttgcaggcttcattggccgcttggcaggca
cctcagcctgcctgggaggccccacagggccagctgcccgccccggtggttccgatgacc
cagcctcctgccctagggggcccgatagtcccggctcccccgctggggggcccgatgggt
aagcctccgactcccggggtcctgatggtgcatcctccacctccgggagccccgatggcc
cagcctccgaccccgggagtcctgatggtgcatccttcagctcccggagctcccatggcc
catcctcctcctccggggaccccaatgtcccaccctccccctccggggaccccaatggcc
catcctcctcctccggggaccccgatggcccatcctcctcctccggggaccccgatggtg
catcctcctcctccggggaccccgatggctcatcctccccctccggggacaccgatggct
catcctccccctccggggacaccgatggctcatcctccacctccggggacaccgatggct
catcctccccctccgggtacaccgatggcccagcctccagctccgggagtcctgatggcc
cagcctctgactccgggagtcctgatggtccagcctgctgctccgggagcaccgatggtc
cagccgcctccagcagccatgatgacccagcctcagccttcaggagcaccgatggccaag
cctccaggtccaggagtcctgatgattcatcctccaggtgcgagagctccgatgacccag
cctccagcttcaggagcaccgatggcacagccggcggccccacctgcacagccgatggcc
ccacctgcacagccgatggcttcttgggccccgcaggctcagcctctgatcctgcaaatc
cagtctcaagttataagggctcctccgcaggttccccagggcccgcaggcacccccagcg
cagctagccacacccccgggctggcaggcgacctcgccaggatggcaggccacgcagcaa
ggctggcaggccactcccctgacttggcagaccacgcaggtcacctggcaggcaccagcc
gttacctggcaggtgccgccgcccatgcgccaggggcccccgcccatccgccctggccca
ccacccatccgccctggcccaccaccggtgcgacaggccccaccgctgatccgccaggcc
ccaccggtgatccgccaggccccacccgtgatccgccaggccccacccgtgatccgccag
gcccccgctgtgatccgccaggccccacctgtgatccgccaggccccacctgtgatccgc
caggctccacctgtgatccgccaggccccgccgctgatccgccaggcgccgccgcccatc
cgacctgccccacaggtcctggccacccagccaccgctctggcaggccctgccaccccca
cctccactgcggcaggccccgcaggctaggctgccggccccgcaggtgcaggcggcgccg
caggtgcctacggccccacctgctacgcaggtacccgcggcgccgcccgctggcccgcag
gtgccccagcctgtgctgccggccccgctgtctgccccactgtctgccccgcaggctgtg
cactgcccttccatcatctggcaggcccccaaaggtcagcccccggtgccacacgagatt
ccaacgtcaatggaattccaggaggtgcagcagacacaggcgctggcctggcaggcccag
aaggcccccactcacatctggcagcccctgcctgcccaggaggcccagaggcaggctccc
cccttggtccagctggagcagccctttcagggagccccgccctcccaaaaagccgtgcaa
atccagctacccccccagcaggcccaggcatcgggtccgcaagcggaggtgcccacactg
ccgctccagccttcctggcaggcaccgcctgcagtcttgcaggcccagcccggacccccg
gtagcagcggcaaattttcccctgggctccgctaaatcattgatgactccatcaggagaa
tgcagggcctcttctatagaccgcaggggctcctctaaagagcgcaggacctcctcgaag
gagcgcagggccccttcaaaagaccgcatgatctttgctgccaccttctgtgctcccaag
gcagtgtcagctgcgcgagcacacctgccagctgcctggaaaaacctgcctgccacaccg
gagacctttgctccctcctcaagtgtcttcccagctacctcccagtttcagcctgcctct
ctgaatgcctttaaaggcccctctgctgcctcagagaccccaaagtcactgccatatgct
ctgcaggatccctttgcctgtgtagaggccctgcctgcagttccatgggtcccacagccc
aatatgaatgcctcaaaggcatcgcaggcagtgcccaccttcctgatggctacagcagct
gccccccaggcaactgccaccactcaagaggcctccaagacctccgtcgagccgccacgc
cgctccggcaaggccacccggaagaagaagcatctggaagcccaagaggacagccgtggc
cacacgctagcctttcatgactggcagggcccaaggccctgggagaatctaaatctgagt
gactgggaggtccaaagccctatccaggtctcgggtgactgggagcacccaaacaccccc
cgtggcctgagtggttgggagggccctagcacctccaggatcctgagtggctgggaaggg
cccagcgcatcctgggccctgagtgcctgggagggcccgagcacctccagggccctgggt
ctctctgaaagcccagggagctctctgcccgtagttgtgtctgaggtcgcaagtgtctct
ccgggatccagtgccacccaggataattccaaggtggaggcacagcccttgtctcccttg
gatgagagggcaaatgcgttggtgcagttcctcttagtcaaggaccaagccaaggtgcct
gtccagcgctcggagatggtgaaagtcatcctccgagagtataaagatgagtgcttagat
atcatcaaccgtgccaacaataagctggagtgtgcctttggttatcaattgaaagaaatt
gataccaaaaaccacgcctatattatcatcaacaagctgggctaccatacagggaatttg
gtggcatcctatttagacaggcccaagtttggccttctgatggtggtcttgagcctcatc
tttatgaaaggcaactgtgtcagggaggatctgatctttaattttctgttcaagttaggg
ttggatgtccgggagacaaacggtctctttggaaatactaagaagctcatcaccgaagtg
tttgtcaggcagaagtacctagagtacaggcgaatcccttacactgagcccgcagagtat
gagttcctctggggccctcgagcattcctggaaaccagcaagatgcttgtcctgaggttt
ttggccaagctccataagaaagatccacagagctggccattccattaccttgaagcgctc
gcagagtgtgagtgggaagacacagatgaggatgaacctgacaccggtgacagtgcccac
ggccccaccagcaggccccctccccgctaa

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