KEGG   Homo sapiens (human): 22941
Entry
22941             CDS       T01001                                 
Symbol
SHANK2, AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3
Name
(RefSeq) SH3 and multiple ankyrin repeat domains 2
  KO
K15009  SH3 and multiple ankyrin repeat domains protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Disease
H02111  Autism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    22941 (SHANK2)
SSDB
Motif
Pfam: Ank_2 Ank SAM_1 SAM_2 Ank_4 Ank_3 Ank_5 SH3_2 SH3_9 PDZ_6 PDZ FERM_f0 SH3_1 SAM_4
Other DBs
NCBI-GeneID: 22941
NCBI-ProteinID: NP_036441
OMIM: 603290
HGNC: 14295
Ensembl: ENSG00000162105
UniProt: Q9UPX8
Structure
Position
11:complement(70467854..71253228)
AA seq 1849 aa
MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIR
VVIHDLQQTKCIRFNPDATVWVAKQRILCTLTQSLKDVLNYGLFQPASNGRDGKFLDEER
LLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKIT
KMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAAR
ARNQVALKTLLELGASPDYKDSYGLTPLYHTAIVGGDPYCCELLLHEHATVCCKDENGWH
EIHQACRYGHVQHLEHLLFYGADMSAQNASGNTALHICALYNQDSCARVLLFRGGNKELK
NYNSQTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRS
NSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVPGPRSRSPSLNR
LGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQ
VDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSK
KLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFP
ALQYLESVDEGGVAWQAGLRTGDFLIEVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVT
RNLDPDDTARKKAPPPPKRAPTTALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASK
PSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIP
RGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPP
PSPTTYNCPKSPTPRVYGTIKPAFNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYS
LDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVE
DSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAA
AIAGAVRDREKRLEARRNSPAFLSTDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQ
LSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGN
YVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAG
FPTVTRQNTRGPLRRQETENKYETDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVD
ATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGS
MEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQ
KKSDTPQSPSLNSSQPTNSADSKKPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSS
DHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSN
ALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPK
ANVISELNSILQQMNREKLAKPGEGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTV
RPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDV
FSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNL
GEHKEAFMDNEIDGSHLPNLQKEDLIDLGVTRVGHRMNIERALKQLLDR
NT seq 5550 nt   +upstreamnt  +downstreamnt
atgccgcgcagcccaacatccagcgaggacgagatggcccagagcttctccgactactcc
gtggggtcggagtcagacagctccaaagaagagaccatctatgacacgatccgggccact
gcggagaagccgggcggtgccaggacggaggagagccagggcaacacgctggtgatccgc
gtggtcatccatgacctgcagcagacgaaatgcattcgatttaacccggatgccacagtg
tgggttgcaaagcagcggatcctgtgtacattaacccagagtttgaaagatgtcctgaac
tacggcctgttccagccggccagcaatgggcgtgacggcaagttcctggatgaggagcgg
ctcctgcgcgagtacccacagcccgtgggtgagggcgttccttccctggagtttcgatac
aagaagcgggtgtataaacaagccagtctcgatgagaaacagttggccaagctccacacg
aagaccaatctgaagaaatgcatggatcacattcagcatcgcttggtggagaagatcacc
aagatgctggaccgaggcctggatcccaatttccacgacccggagaccggagagaccccc
ctgaccttagccgctcagctggacgactctgtggaggtcatcaaagctctcaaaaatggt
ggagctcacctggacttccgtgccaaagatgggatgaccgccctacacaaagctgcccga
gcgaggaaccaagttgccctgaagacccttttagagcttggtgcatccccagattataaa
gacagttacggcctcaccccgctgtatcacacagccatcgtcggaggtgatccctactgc
tgcgagcttctcctgcacgaacacgccactgtgtgctgcaaagatgagaacggctggcac
gagatccaccaggcctgcaggtacgggcacgtgcagcacctggagcacctgctgttctac
ggggcagacatgagtgcccagaatgcctcggggaacacggccttgcacatctgcgccctc
tacaaccaggacagctgtgcaagagtgcttctgtttcgaggcggaaataaggagttaaaa
aactacaacagccagactccatttcaggtggccataatagcaggcaactttgagctggca
gaatacatcaagaaccacaaggaaacagacattgtgcccttccgagaggccccggcgtac
tccaaccgccggcggcggccccccaacacgctggccgccccccgggtcctgctgcgctcc
aacagtgacaacaacctcaatgccagcgctcccgactgggccgtctgctccacggccacc
tcgcaccgcagcctgtcaccccagctgctgcagcagatgcccagcaagcccgagggggcc
gcgaagaccattgggagctacgtgcccgggccccgcagccggtccccatcgctcaacagg
ctgggcggcgcaggcgaggacggcaagaggccgcagcctctctggcatgtcgggtcgcct
tttgctcttggtgccaacaaggactcactctcggccttcgagtacccggggcccaagcgg
aagctctacagtgccgtgcccgggaggctcttcgtcgctgtcaagccataccaaccccaa
gtggacggcgagatcccccttcaccgcggtgacagggtcaaagttctgagcatcggtgaa
gggggcttctgggaaggcagcgcccgcggccacatcggatggtttccggcggagtgcgtg
gaggaggtccagtgtaagcccagggacagccaggcagaaacccgcgctgaccgcagcaag
aagcttttcaggcactacaccgtgggctcctatgacagcttcgacacttccagtgactgc
attattgaggagaagacggtggtcctgcagaaaaaagacaatgagggctttggattcgtg
cttcgaggggccaaagctgacacacccattgaagaattcacaccaacaccggctttccca
gccctacagtacctggagtccgtggatgaaggtggggtggcgtggcaagccggactaagg
accggggacttcttgattgaggttaacaatgagaatgttgtcaaagtcggccacaggcag
gtggtgaacatgatccggcagggagggaatcacctggtccttaaggtggtcacggtgacc
aggaatctggaccccgacgacaccgccaggaagaaagctcccccgcctccaaagcgggca
ccgaccacagccctcaccctgcgctccaagtccatgacctcggagctggaggagctcgtg
gataaagcctcggtccggaagaagaaggataaacccgaggagatagtcccggcctccaag
ccctcccgcgctgctgagaacatggctgtggaaccgagggtggcgaccatcaagcagcgg
cccagcagccggtgcttcccggcgggctcagacatgaactctgtgtacgaacgccaagga
atcgccgtgatgacgcccactgttcctgggagcccaaaagccccgtttctgggcatccct
cgaggtacgatgcgaaggcagaaatcaatagacagcagaatctttctatcaggaataaca
gaggaagagcggcagtttctggctcctccaatgctgaagttcaccagaagcctgtccatg
ccggacacctctgaggacatcccccctccaccgcagtctgtgcccccgtccccaccacca
ccttccccaaccacttacaactgccccaagtccccaactccaagagtctacgggacgatt
aagcctgcgttcaatcagaattctgccgccaaggtgtcccccgccaccaggtccgacacc
gtggccaccatgatgagggagaaggggatgtacttcaggagagagctggaccgctactcc
ttggactctgaagacctctacagtcggaatgccggcccgcaagccaacttccgcaacaag
agaggccagatgccagaaaacccatactcagaggtggggaagatcgccagcaaagccgtc
tacgtccccgccaagcccgccaggcggaaggggatgctggtgaagcagtccaacgtggag
gacagccccgagaagacgtgctccatccctatcccgaccatcatcgtgaaggagccgtcc
accagcagcagcggcaagagcagccagggcagcagcatggagatcgacccccaggccccg
gagccaccgagccagctgcggcctgacgaaagcctgaccgtcagcagcccctttgccgcc
gccatcgccggagccgtccgcgaccgtgagaagcggctggaagccaggaggaactccccg
gccttcctctccacagacctgggggatgaggatgtgggcctggggccacccgcccccagg
acgcggccctccatgttccccgaggagggggattttgctgacgaggacagcgctgagcag
ctgtcatcccccatgccgagtgccacgcccagggagcccgaaaaccatttcgtgggtggc
gccgaggccagtgctccgggtgaggctgggaggccgctgaattccacgtccaaagcccag
gggcccgagagcagcccagcagtgccctccgcgagcagcggcacagccggccccgggaat
tatgtccacccactcacagggcggctgcttgatcccagctccccgctggccctggcactc
tccgcaagggaccgagccatgaaggagtctcaacagggacccaaaggggaggcccccaag
gccgacctcaacaaacctctttacattgataccaaaatgcggcccagcctggatgccggc
ttccctacggtcaccaggcagaacacccggggacccctgaggcggcaggagacggagaac
aagtacgagaccgacctgggccgagaccggaaaggcgatgacaagaagaacatgctgatc
gacatcatggacacgtcccagcagaagtcggctggcctgctgatggtgcacaccgtggac
gccactaagctggacaacgccctgcaggaagaggacgagaaggcagaggtggagatgaag
ccagacagctcgccgtccgaggtgccagaaggtgtttccgaaaccgaaggtgctttacag
atctccgctgcccccgagcccaccaccgtgcccggcagaaccatcgtcgcggtgggctcc
atggaagaggcggtgattttgccattccgcatccctcctccccctctggcatccgtggac
ttggatgaggattttatttttacagagccattgcctcctcccctggaatttgcaaatagt
tttgatatccccgatgaccgggcagcttctgtcccggctctctcagacttagtgaagcag
aagaaaagcgacacccctcagtccccttcgttgaactccagccaaccaaccaactctgca
gacagcaagaagccagccagtctttcaaactgtctgcctgcctcattcctgccaccccct
gaaagctttgacgccgtcgccgactctgggatcgaggaggtggacagccggagtagcagc
gaccaccacctcgagacgaccagcactatctccaccgtgtctagcatctccaccctgtct
tccgaaggtggagagaatgtggacacctgcacagtctatgcagatgggcaagcatttatg
gttgacaaacccccagtacctcctaagccaaaaatgaagcccatcattcacaaaagcaat
gcactttatcaagacgcgctcgtggaagaagatgtagatagctttgttatccccccgccc
gctcccccgcccccgccgggcagtgcccagcctgggatggccaaggttctccagccaagg
acctccaagttgtggggcgacgtcacagagatcaaaagcccgattctctcaggcccaaag
gcaaacgttattagtgaattgaactctatcctacagcaaatgaaccgagagaaattggca
aagccgggggaaggactggattcaccaatgggagccaagtccgccagcctcgctccaaga
agcccggagatcatgagcaccatctcaggtacacggagcacgacggtcaccttcactgtt
cgccccggcacctcccagcccatcaccctgcagagccggccccccgactatgaaagcagg
acctcaggaacaagacgtgccccaagccctgtggtctcgccaacagagatgaacaaagag
accctgcccgcccccctgtctgctgccaccgcctctccttctcccgctctctcagatgtc
tttagccttccaagccagcccccttctggggatctatttggcttgaacccagcgggacgc
agtaggtcgccatccccctcgatactgcaacagccaatctcaaataagccttttacaact
aaacctgtccacctgtggactaaaccagatgtggccgattggctggaaagtctaaacttg
ggtgaacataaagaggccttcatggacaatgagatcgatggcagtcacttaccaaacctg
cagaaggaggacctcatcgatcttggggtaactcgagtcgggcacagaatgaacatagaa
agggctttgaaacagctgctggacagataa

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (35)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (33)   
DNA sequence (72)   
   RefSeq(nuc) (34)   
   GenBank (19)   
   EMBL (19)   
3D Structure (2)   
   PDB (2)   
Protein domain (14)   
   Pfam (14)   
All databases (150)   

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