KEGG   Homo sapiens (human): 85358Help
Entry
85358             CDS       T01001                                 

Gene name
SHANK3, DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
Definition
SH3 and multiple ankyrin repeat domains 3
Orthology
K15009  
SH3 and multiple ankyrin repeat domains protein
Organism
hsa  Homo sapiens (human)
Pathway
Glutamatergic synapse
Disease
H01238  
Phelan-McDermid syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Nervous system
   04724 Glutamatergic synapse
    85358 (SHANK3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
UniProt: 
Position
22q13.3
AA seq 1731 aa AA seqDB search
MDGPGASAVVVRVGIPDLQQTKCLRLDPAAPVWAAKQRVLCALNHSLQDALNYGLFQPPS
RGRAGKFLDEERLLQEYPPNLDTPLPYLEFRYKRRVYAQNLIDDKQFAKLHTKANLKKFM
DYVQLHSTDKVARLLDKGLDPNFHDPDSGECPLSLAAQLDNATDLLKVLKNGGAHLDFRT
RDGLTAVHCATRQRNAAALTTLLDLGASPDYKDSRGLTPLYHSALGGGDALCCELLLHDH
AQLGITDENGWQEIHQACRFGHVQHLEHLLFYGADMGAQNASGNTALHICALYNQESCAR
VLLFRGANRDVRNYNSQTAFQVAIIAGNFELAEVIKTHKDSDVVPFRETPSYAKRRRLAG
PSGLASPRPLQRSASDINLKGEAQPAASPGPSLRSLPHQLLLQRLQEEKDRDRDADQESN
ISGPLAGRAGQSKISPSGPGGPGPAPGPGPAPPAPPAPPPRGPKRKLYSAVPGRKFIAVK
AHSPQGEGEIPLHRGEAVKVLSIGEGGFWEGTVKGRTGWFPADCVEEVQMRQHDTRPETR
EDRTKRLFRHYTVGSYDSLTSHSDYVIDDKVAVLQKRDHEGFGFVLRGAKAETPIEEFTP
TPAFPALQYLESVDVEGVAWRAGLRTGDFLIEVNGVNVVKVGHKQVVALIRQGGNRLVMK
VVSVTRKPEEDGARRRAPPPPKRAPSTTLTLRSKSMTAELEELASIRRRKGEKLDEMLAA
AAEPTLRPDIADADSRAATVKQRPTSRRITPAEISSLFERQGLPGPEKLPGSLRKGIPRT
KSVGEDEKLASLLEGRFPRSTSMQDPVREGRGIPPPPQTAPPPPPAPYYFDSGPPPAFSP
PPPPGRAYDTVRSSFKPGLEARLGAGAAGLYEPGAALGPLPYPERQKRARSMIILQDSAP
ESGDAPRPPPAATPPERPKRRPRPPGPDSPYANLGAFSASLFAPSKPQRRKSPLVKQLQV
EDAQERAALAVGSPGPGGGSFAREPSPTHRGPRPGGLDYGAGDGPGLAFGGPGPAKDRRL
EERRRSTVFLSVGAIEGSAPGADLPSLQPSRSIDERLLGTGPTAGRDLLLPSPVSALKPL
VSGPSLGPSGSTFIHPLTGKPLDPSSPLALALAARERALASQAPSRSPTPVHSPDADRPG
PLFVDVQARDPERGSLASPAFSPRSPAWIPVPARREAEKVPREERKSPEDKKSMILSVLD
TSLQRPAGLIVVHATSNGQEPSRLGGAEEERPGTPELAPAPMQSAAVAEPLPSPRAQPPG
GTPADAGPGQGSSEEEPELVFAVNLPPAQLSSSDEETREELARIGLVPPPEEFANGVLLA
TPLAGPGPSPTTVPSPASGKPSSEPPPAPESAADSGVEEADTRSSSDPHLETTSTISTVS
SMSTLSSESGELTDTHTSFADGHTFLLEKPPVPPKPKLKSPLGKGPVTFRDPLLKQSSDS
ELMAQQHHAASAGLASAAGPARPRYLFQRRSKLWGDPVESRGLPGPEDDKPTVISELSSR
LQQLNKDTRSLGEEPVGGLGSLLDPAKKSPIAAARLFSSLGELSSISAQRSPGGPGGGAS
YSVRPSGRYPVARRAPSPVKPASLERVEGLGAGAGGAGRPFGLTPPTILKSSSLSIPHEP
KEVRFVVRSVSARSRSPSPSPLPSPASGPGPGAPGPRRPFQQKPLQLWSKFDVGDWLESI
HLGEHRDRFEDHEIEGAHLPALTKDDFVELGVTRVGHRMNIERALRQLDGS
NT seq 5196 nt NT seq  +upstreamnt  +downstreamnt
atggacggccccggggccagcgccgtggtcgtgcgcgtcggcatcccggacctgcagcag
acgaagtgcctgcgcctggacccggccgcgcccgtgtgggccgccaagcagcgcgtgctc
tgcgccctcaaccacagcctccaggacgcgctcaactatgggcttttccagccgccctcc
cggggccgcgccggcaagttcctggatgaggagcggctcctgcaggagtacccgcccaac
ctggacacgcccctgccctacctggagtttcgatacaagcggcgagtttatgcccagaac
ctcatcgatgataagcagtttgcaaagcttcacacaaaggcgaacctgaagaagttcatg
gactacgtccagctgcatagcacggacaaggtggcacgcctgttggacaaggggctggac
cccaacttccatgaccctgactcaggagagtgccccctgagcctcgcagcccagctggac
aacgccacggacctgctaaaggtgctgaagaatggtggtgcccacctggacttccgcact
cgcgatgggctcactgccgtgcactgtgccacacgccagcggaatgcggcagcactgacg
accctgctggacctgggggcttcacctgactacaaggacagccgcggcttgacacccctc
taccacagcgccctggggggtggggatgccctctgctgtgagctgcttctccacgaccac
gctcagctggggatcaccgacgagaatggctggcaggagatccaccaggcctgccgcttt
gggcacgtgcagcatctggagcacctgctgttctatggggcagacatgggggcccagaac
gcctcggggaacacagccctgcacatctgtgccctctacaaccaggagagctgtgctcgt
gtcctgctcttccgtggagctaacagggatgtccgcaactacaacagccagacagccttc
caggtggccatcatcgcagggaactttgagcttgcagaggttatcaagacccacaaagac
tcggatgttgtaccattcagggaaacccccagctatgcgaagcggcggcgactggctggc
cccagtggcttggcatcccctcggcctctgcagcgctcagccagcgatatcaacctgaag
ggggaggcacagccagcagcttctcctggaccctcgctgagaagcctcccccaccagctg
ctgctccagcggctgcaagaggagaaagatcgtgaccgggatgccgaccaggagagcaac
atcagtggccctttagcaggcagggccggccaaagcaagatcagcccgagcgggcccggc
ggccccggccccgcgcccggccccggccccgcgccccctgcgccccccgcaccgccgccc
cggggcccgaagcggaaactttacagcgccgtccccggccgcaagttcatcgccgtgaag
gcgcacagcccgcagggtgaaggcgagatcccgctgcaccgcggcgaggccgtgaaggtg
ctcagcattggggagggcggtttctgggagggaaccgtgaaaggccgcacgggctggttc
ccggccgactgcgtggaggaagtgcagatgaggcagcatgacacacggcctgaaacgcgg
gaggaccggacgaagcggctctttcggcactacacagtgggctcctacgacagcctcacc
tcacacagcgattatgtcattgatgacaaagtggctgtcctgcagaaacgggaccacgag
ggctttggttttgtgctccggggagccaaagcagagacccccatcgaggagttcacgccc
acgccagccttcccggcgctgcagtatctcgagtcggtggacgtggagggtgtggcctgg
agggccgggctgcgcacgggagacttcctcatcgaggtgaacggggtgaacgtggtgaag
gtcggacacaagcaggtggtggctctgattcgccagggtggcaaccgcctcgtcatgaag
gttgtgtctgtgacaaggaagccagaagaggacggggctcggcgcagagccccaccgccc
cccaagagggcccccagcaccacactgaccctgcgctccaagtccatgacagctgagctc
gaggaacttgcctccattcggagaagaaaaggggagaagctggacgagatgctggcagcc
gccgcagagccaacgctgcggccagacatcgcagacgcagactccagagccgccaccgtc
aaacagaggcccaccagtcggaggatcacacccgccgagattagctcattgtttgaacgc
cagggcctcccaggcccagagaagctgccgggctccttgcggaaggggattccacggacc
aagtctgtaggggaggacgagaagctggcgtccctgctggaagggcgcttcccgcggagc
acctcgatgcaagacccggtgcgcgagggtcgcggcatcccgcccccgccgcagaccgcg
ccgcctcccccgcccgcgccctactacttcgactcggggccgcccccggccttctcgccg
ccgcccccgccgggccgcgcctacgacacggtgcgctccagcttcaagcccggcctggag
gcgcgcctgggcgcgggcgctgccggcctgtacgagccgggcgcggccctcggcccgctg
ccgtatcccgagcggcagaagcgcgcgcgctccatgatcatcctgcaggactcggcgccc
gagtcgggcgacgcccctcgacccccgcccgcggccaccccgcccgagcgacccaagcgc
cggccgcggccgcccggccccgacagcccctacgccaacctgggcgccttcagcgccagc
ctcttcgctccgtccaagccgcagcgccgcaagagccccctggtgaagcagctgcaggtg
gaggacgcgcaggagcgcgcggccctggccgtgggcagccccggtcccggcggcggcagc
ttcgcccgcgagccctccccgacccaccgcggtccgcgcccgggtggcctcgactacggc
gcgggcgatggcccggggctcgcgttcggcggcccgggcccggccaaggaccggcggctg
gaggagcggcgccgctccactgtgttcctgtccgtgggggccatcgagggcagcgccccc
ggcgcggatctgccatccctacagccctcccgctccatcgacgagcgcctcctggggacc
ggccccaccgccggccgcgacctgctgctgccctccccggtgtctgccctgaagccgttg
gtcagcggcccgagcctggggccctcgggttccaccttcatccacccactcaccggcaaa
cccctggaccccagctcacccctggcccttgccctggctgcccgagagcgagctctggcc
tcccaggcgccctcccggtcccccacacccgtgcacagtcccgacgccgaccgccccgga
cccctgtttgtggatgtacaggcccgggacccagagcgagggtccctggcttccccggct
ttctccccacggagcccagcctggattcctgtgcctgctcgcagggaggcagagaaggtc
ccccgggaggagcggaagtcacccgaggacaagaagtccatgatcctcagcgtcctggac
acatccctgcagcggccagctggcctcatcgttgtgcacgccaccagcaacgggcaggag
cccagcaggctggggggggccgaagaggagcgcccgggcaccccggagttggccccggcc
cccatgcagtcagcggctgtggcagagcccctgcccagcccccgggcccagccccctggt
ggcaccccggcagacgccgggccaggccagggcagctcagaggaagagccagagctggtg
tttgctgtgaacctgccacctgcccagctgtcgtccagcgatgaggagaccagggaggag
ctggcccgaattgggttggtgccaccccctgaagagtttgccaacggggtcctgctggcc
accccactcgctggcccgggcccctcgcccaccacggtgcccagcccggcctcagggaag
cccagcagtgagccaccccctgcccctgagtctgcagccgactctggggtggaggaggct
gacacacgcagctccagcgacccccacctggagaccacaagcaccatctccacggtgtcc
agcatgtccaccttgagctcggagagcggggaactcactgacacccacacctccttcgct
gacggacacacttttctactcgagaagccaccagtgcctcccaagcccaagctcaagtcc
ccgctggggaaggggccggtgaccttcagggacccgctgctgaagcagtcctcggacagc
gagctcatggcccagcagcaccacgccgcctctgccgggctggcctctgccgccgggcct
gcccgccctcgctacctcttccagagaaggtccaagctatggggggaccccgtggagagc
cgggggctccctgggcctgaagacgacaaaccaactgtgatcagtgagctcagctcccgc
ctgcagcagctgaacaaggacacgcgttccctgggggaggaaccagttggtggcctgggc
agcctgctggaccctgccaagaagtcgcccatcgcagcagctcggctcttcagcagcctc
ggtgagctgagctccatttcagcgcagcgcagccccgggggcccgggcggcggggcctcg
tactcggtgaggcccagtggccgctaccccgtggcgagacgcgccccgagcccggtgaag
cccgcgtcgctggagcgggtggaggggctgggggcgggcgcggggggcgcagggcggccc
ttcggcctcacgccccccaccatcctcaagtcgtccagcctctccatcccgcacgagccc
aaggaggtgcgcttcgtggtgcgcagcgtgagcgcgcgcagtcgctccccctcgccgtcg
ccgctgccctcgcccgcgtccggccccggccccggcgcccccggcccacgccgacccttc
cagcagaagccgctgcagctctggagcaagttcgacgtgggcgactggctggagagcatc
cacctaggcgagcaccgcgaccgcttcgaggaccatgagatagaaggcgcgcacctaccc
gcgcttaccaaggacgacttcgtggagctgggcgtcacgcgcgtgggccaccgcatgaac
atcgagcgcgcgctcaggcagctggacggcagctga

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