KEGG   Homo sapiens (human): 85358
Entry
85358             CDS       T01001                                 
Symbol
SHANK3, DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
Name
(RefSeq) SH3 and multiple ankyrin repeat domains 3
  KO
K15009  SH3 and multiple ankyrin repeat domains protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Disease
H01238  Phelan-McDermid syndrome
H01649  Schizophrenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    85358 (SHANK3)
SSDB
Motif
Pfam: Ank_2 SAM_1 Ank Ank_4 SAM_2 SH3_2 Ank_3 PDZ_6 Ank_5 SH3_9 PDZ SH3_1 FERM_f0
Other DBs
NCBI-GeneID: 85358
NCBI-ProteinID: NP_001358973
OMIM: 606230
HGNC: 14294
Ensembl: ENSG00000251322
Position
22:50672823..50733212
AA seq 1806 aa
MQLSRAAAAAAAAPAEPPEPLSPAPAPAPAPPGPLPRSAADGAPAGGKGGPGRRAESPGA
PFPGASGPGPGPGAGMDGPGASAVVVRVGIPDLQQTKCLRLDPAAPVWAAKQRVLCALNH
SLQDALNYGLFQPPSRGRAGKFLDEERLLQEYPPNLDTPLPYLEFRYKRRVYAQNLIDDK
QFAKLHTKANLKKFMDYVQLHSTDKVARLLDKGLDPNFHDPDSGECPLSLAAQLDNATDL
LKVLKNGGAHLDFRTRDGLTAVHCATRQRNAAALTTLLDLGASPDYKDSRGLTPLYHSAL
GGGDALCCELLLHDHAQLGITDENGWQEIHQACRFGHVQHLEHLLFYGADMGAQNASGNT
ALHICALYNQESCARVLLFRGANRDVRNYNSQTAFQVAIIAGNFELAEVIKTHKDSDVVP
FRETPSYAKRRRLAGPSGLASPRPLQRSASDINLKGEAQPAASPGPSLRSLPHQLLLQRL
QEEKDRDRDADQESNISGPLAGRAGQSKISPSGPGGPGPAPGPGPAPPAPPAPPPRGPKR
KLYSAVPGRKFIAVKAHSPQGEGEIPLHRGEAVKVLSIGEGGFWEGTVKGRTGWFPADCV
EEVQMRQHDTRPETREDRTKRLFRHYTVGSYDSLTSHSDYVIDDKVAVLQKRDHEGFGFV
LRGAKAETPIEEFTPTPAFPALQYLESVDVEGVAWRAGLRTGDFLIEVNGVNVVKVGHKQ
VVALIRQGGNRLVMKVVSVTRKPEEDGARRRAPPPPKRAPSTTLTLRSKSMTAELEELAS
IRRRKGEKLDEMLAAAAEPTLRPDIADADSRAATVKQRPTSRRITPAEISSLFERQGLPG
PEKLPGSLRKGIPRTKSVGEDEKLASLLEGRFPRSTSMQDPVREGRGIPPPPQTAPPPPP
APYYFDSGPPPAFSPPPPPGRAYDTVRSSFKPGLEARLGAGAAGLYEPGAALGPLPYPER
QKRARSMIILQDSAPESGDAPRPPPAATPPERPKRRPRPPGPDSPYANLGAFSASLFAPS
KPQRRKSPLVKQLQVEDAQERAALAVGSPGPGGGSFAREPSPTHRGPRPGGLDYGAGDGP
GLAFGGPGPAKDRRLEERRRSTVFLSVGAIEGSAPGADLPSLQPSRSIDERLLGTGPTAG
RDLLLPSPVSALKPLVSGPSLGPSGSTFIHPLTGKPLDPSSPLALALAARERALASQAPS
RSPTPVHSPDADRPGPLFVDVQARDPERGSLASPAFSPRSPAWIPVPARREAEKVPREER
KSPEDKKSMILSVLDTSLQRPAGLIVVHATSNGQEPSRLGGAEEERPGTPELAPAPMQSA
AVAEPLPSPRAQPPGGTPADAGPGQGSSEEEPELVFAVNLPPAQLSSSDEETREELARIG
LVPPPEEFANGVLLATPLAGPGPSPTTVPSPASGKPSSEPPPAPESAADSGVEEADTRSS
SDPHLETTSTISTVSSMSTLSSESGELTDTHTSFADGHTFLLEKPPVPPKPKLKSPLGKG
PVTFRDPLLKQSSDSELMAQQHHAASAGLASAAGPARPRYLFQRRSKLWGDPVESRGLPG
PEDDKPTVISELSSRLQQLNKDTRSLGEEPVGGLGSLLDPAKKSPIAAARLFSSLGELSS
ISAQRSPGGPGGGASYSVRPSGRYPVARRAPSPVKPASLERVEGLGAGAGGAGRPFGLTP
PTILKSSSLSIPHEPKEVRFVVRSVSARSRSPSPSPLPSPASGPGPGAPGPRRPFQQKPL
QLWSKFDVGDWLESIHLGEHRDRFEDHEIEGAHLPALTKDDFVELGVTRVGHRMNIERAL
RQLDGS
NT seq 5421 nt   +upstreamnt  +downstreamnt
atgcagctgagccgcgccgccgccgccgccgccgccgcccctgcggagcccccggagccg
ctgtcccccgcgccggccccggccccggccccccccggccccctcccgcgcagcgcggcc
gacggggctccggcgggggggaagggggggccggggcgccgcgcggagtccccgggcgct
ccgttccccggcgcgagcggccccggcccgggccccggcgcggggatggacggccccggg
gccagcgccgtggtcgtgcgcgtcggcatcccggacctgcagcagacgaagtgcctgcgc
ctggacccggccgcgcccgtgtgggccgccaagcagcgcgtgctctgcgccctcaaccac
agcctccaggacgcgctcaactatgggcttttccagccgccctcccggggccgcgccggc
aagttcctggatgaggagcggctcctgcaggagtacccgcccaacctggacacgcccctg
ccctacctggagtttcgatacaagcggcgagtttatgcccagaacctcatcgatgataag
cagtttgcaaagcttcacacaaaggcgaacctgaagaagttcatggactacgtccagctg
catagcacggacaaggtggcacgcctgttggacaaggggctggaccccaacttccatgac
cctgactcaggagagtgccccctgagcctcgcagcccagctggacaacgccacggacctg
ctaaaggtgctgaagaatggtggtgcccacctggacttccgcactcgcgatgggctcact
gccgtgcactgtgccacacgccagcggaatgcggcagcactgacgaccctgctggacctg
ggggcttcacctgactacaaggacagccgcggcttgacacccctctaccacagcgccctg
gggggtggggatgccctctgctgtgagctgcttctccacgaccacgctcagctggggatc
accgacgagaatggctggcaggagatccaccaggcctgccgctttgggcacgtgcagcat
ctggagcacctgctgttctatggggcagacatgggggcccagaacgcctcggggaacaca
gccctgcacatctgtgccctctacaaccaggagagctgtgctcgtgtcctgctcttccgt
ggagctaacagggatgtccgcaactacaacagccagacagccttccaggtggccatcatc
gcagggaactttgagcttgcagaggttatcaagacccacaaagactcggatgttgtacca
ttcagggaaacccccagctatgcgaagcggcggcgactggctggccccagtggcttggca
tcccctcggcctctgcagcgctcagccagcgatatcaacctgaagggggaggcacagcca
gcagcttctcctggaccctcgctgagaagcctcccccaccagctgctgctccagcggctg
caagaggagaaagatcgtgaccgggatgccgaccaggagagcaacatcagtggcccttta
gcaggcagggccggccaaagcaagatcagcccgagcgggcccggcggccccggccccgcg
cccggccccggccccgcgccccctgcgccccccgcaccgccgccccggggcccgaagcgg
aaactttacagcgccgtccccggccgcaagttcatcgccgtgaaggcgcacagcccgcag
ggtgaaggcgagatcccgctgcaccgcggcgaggccgtgaaggtgctcagcattggggag
ggcggtttctgggagggaaccgtgaaaggccgcacgggctggttcccggccgactgcgtg
gaggaagtgcagatgaggcagcatgacacacggcctgaaacgcgggaggaccggacgaag
cggctctttcggcactacacagtgggctcctacgacagcctcacctcacacagcgattat
gtcattgatgacaaagtggctgtcctgcagaaacgggaccacgagggctttggttttgtg
ctccggggagccaaagcagagacccccatcgaggagttcacgcccacgccagccttcccg
gcgctgcagtatctcgagtcggtggacgtggagggtgtggcctggagggccgggctgcgc
acgggagacttcctcatcgaggtgaacggggtgaacgtggtgaaggtcggacacaagcag
gtggtggctctgattcgccagggtggcaaccgcctcgtcatgaaggttgtgtctgtgaca
aggaagccagaagaggacggggctcggcgcagagccccaccgccccccaagagggccccc
agcaccacactgaccctgcgctccaagtccatgacagctgagctcgaggaacttgcctcc
attcggagaagaaaaggggagaagctggacgagatgctggcagccgccgcagagccaacg
ctgcggccagacatcgcagacgcagactccagagccgccaccgtcaaacagaggcccacc
agtcggaggatcacacccgccgagattagctcattgtttgaacgccagggcctcccaggc
ccagagaagctgccgggctccttgcggaaggggattccacggaccaagtctgtaggggag
gacgagaagctggcgtccctgctggaagggcgcttcccgcggagcacctcgatgcaagac
ccggtgcgcgagggtcgcggcatcccgcccccgccgcagaccgcgccgcctcccccgccc
gcgccctactacttcgactcggggccgcccccggccttctcgccgccgcccccgccgggc
cgcgcctacgacacggtgcgctccagcttcaagcccggcctggaggcgcgcctgggcgcg
ggcgctgccggcctgtacgagccgggcgcggccctcggcccgctgccgtatcccgagcgg
cagaagcgcgcgcgctccatgatcatcctgcaggactcggcgcccgagtcgggcgacgcc
cctcgacccccgcccgcggccaccccgcccgagcgacccaagcgccggccgcggccgccc
ggccccgacagcccctacgccaacctgggcgccttcagcgccagcctcttcgctccgtcc
aagccgcagcgccgcaagagccccctggtgaagcagctgcaggtggaggacgcgcaggag
cgcgcggccctggccgtgggcagccccggtcccggcggcggcagcttcgcccgcgagccc
tccccgacccaccgcggtccgcgcccgggtggcctcgactacggcgcgggcgatggcccg
gggctcgcgttcggcggcccgggcccggccaaggaccggcggctggaggagcggcgccgc
tccactgtgttcctgtccgtgggggccatcgagggcagcgcccccggcgcggatctgcca
tccctacagccctcccgctccatcgacgagcgcctcctggggaccggccccaccgccggc
cgcgacctgctgctgccctccccggtgtctgccctgaagccgttggtcagcggcccgagc
ctggggccctcgggttccaccttcatccacccactcaccggcaaacccctggaccccagc
tcacccctggcccttgccctggctgcccgagagcgagctctggcctcccaggcgccctcc
cggtcccccacacccgtgcacagtcccgacgccgaccgccccggacccctgtttgtggat
gtacaggcccgggacccagagcgagggtccctggcttccccggctttctccccacggagc
ccagcctggattcctgtgcctgctcgcagggaggcagagaaggtcccccgggaggagcgg
aagtcacccgaggacaagaagtccatgatcctcagcgtcctggacacatccctgcagcgg
ccagctggcctcatcgttgtgcacgccaccagcaacgggcaggagcccagcaggctgggg
ggggccgaagaggagcgcccgggcaccccggagttggccccggcccccatgcagtcagcg
gctgtggcagagcccctgcccagcccccgggcccagccccctggtggcaccccggcagac
gccgggccaggccagggcagctcagaggaagagccagagctggtgtttgctgtgaacctg
ccacctgcccagctgtcgtccagcgatgaggagaccagggaggagctggcccgaattggg
ttggtgccaccccctgaagagtttgccaacggggtcctgctggccaccccactcgctggc
ccgggcccctcgcccaccacggtgcccagcccggcctcagggaagcccagcagtgagcca
ccccctgcccctgagtctgcagccgactctggggtggaggaggctgacacacgcagctcc
agcgacccccacctggagaccacaagcaccatctccacggtgtccagcatgtccaccttg
agctcggagagcggggaactcactgacacccacacctccttcgctgacggacacactttt
ctactcgagaagccaccagtgcctcccaagcccaagctcaagtccccgctggggaagggg
ccggtgaccttcagggacccgctgctgaagcagtcctcggacagcgagctcatggcccag
cagcaccacgccgcctctgccgggctggcctctgccgccgggcctgcccgccctcgctac
ctcttccagagaaggtccaagctatggggggaccccgtggagagccgggggctccctggg
cctgaagacgacaaaccaactgtgatcagtgagctcagctcccgcctgcagcagctgaac
aaggacacgcgttccctgggggaggaaccagttggtggcctgggcagcctgctggaccct
gccaagaagtcgcccatcgcagcagctcggctcttcagcagcctcggtgagctgagctcc
atttcagcgcagcgcagccccgggggcccgggcggcggggcctcgtactcggtgaggccc
agtggccgctaccccgtggcgagacgcgccccgagcccggtgaagcccgcgtcgctggag
cgggtggaggggctgggggcgggcgcggggggcgcagggcggcccttcggcctcacgccc
cccaccatcctcaagtcgtccagcctctccatcccgcacgagcccaaggaggtgcgcttc
gtggtgcgcagcgtgagcgcgcgcagtcgctccccctcgccgtcgccgctgccctcgccc
gcgtccggccccggccccggcgcccccggcccacgccgacccttccagcagaagccgctg
cagctctggagcaagttcgacgtgggcgactggctggagagcatccacctaggcgagcac
cgcgaccgcttcgaggaccatgagatagaaggcgcgcacctacccgcgcttaccaaggac
gacttcgtggagctgggcgtcacgcgcgtgggccaccgcatgaacatcgagcgcgcgctc
aggcagctggacggcagctga

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (43)   
   KEGG ORTHOLOGY (1)   
   RefGene (35)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (1)   
   RefSeq(pep) (1)   
DNA sequence (14)   
   RefSeq(nuc) (2)   
   GenBank (6)   
   EMBL (6)   
Protein domain (13)   
   Pfam (13)   
All databases (79)   

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