KEGG   Homo sapiens (human): 22941Help
Entry
22941             CDS       T01001                                 

Gene name
SHANK2, AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SAM_1 SAM_2 PDZ_6 PDZ SAM_4 SAM_PNT
Motif
Other DBs
NCBI-GeneID: 22941
NCBI-ProteinID: NP_573573
OMIM: 603290
HGNC: 14295
Ensembl: ENSG00000162105
Vega: OTTHUMG00000154615
Pharos: Q9UPX8(Tbio)
UniProt: Q9UPX8 A6NHU9 C0SPH0
Position
11q13.3-q13.4
AA seq 1261 aa AA seqDB search
MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADT
PIEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEVNNENVVKVGHRQVVNMIRQG
GNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTTALTLRSKSMTSELEELVDKASVRKK
KDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTV
PGSPKAPFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIP
PPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAAKVSPATRSDTVATMMREK
GMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPAR
RKGMLVKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRP
DESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDEDVGLGPPAPRTRPSMFPE
EGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAV
PSASSGTAGPGNYVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLY
IDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRDRKGDDKKNMLIDIMDTSQQ
KSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPT
TVPGRTIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRA
ASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSNCLPASFLPPPESFDAVAD
SGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPP
KPKMKPIIHKSNALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDV
TEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPMGAKSASLAPRSPEIMSTI
SGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSA
ATASPSPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTK
PDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGVTRVGHRMNIERALKQLLD
R
NT seq 3786 nt NT seq  +upstreamnt  +downstreamnt
atgatgatgaacgtccccggcggaggagcggccgcggtgatgatgacgggctacaataat
ggtcgctgtccccggaattctctctacagtgactgcattattgaggagaagacggtggtc
ctgcagaaaaaagacaatgagggctttggattcgtgcttcgaggggccaaagctgacaca
cccattgaagaattcacaccaacaccggctttcccagccctacagtacctggagtccgtg
gatgaaggtggggtggcgtggcaagccggactaaggaccggggacttcttgattgaggtt
aacaatgagaatgttgtcaaagtcggccacaggcaggtggtgaacatgatccggcaggga
gggaatcacctggtccttaaggtggtcacggtgaccaggaatctggaccccgacgacacc
gccaggaagaaagctcccccgcctccaaagcgggcaccgaccacagccctcaccctgcgc
tccaagtccatgacctcggagctggaggagctcgtggataaagcctcggtccggaagaag
aaggataaacccgaggagatagtcccggcctccaagccctcccgcgctgctgagaacatg
gctgtggaaccgagggtggcgaccatcaagcagcggcccagcagccggtgcttcccggcg
ggctcagacatgaactctgtgtacgaacgccaaggaatcgccgtgatgacgcccactgtt
cctgggagcccaaaagccccgtttctgggcatccctcgaggtacgatgcgaaggcagaaa
tcaatagacagcagaatctttctatcaggaataacagaggaagagcggcagtttctggct
cctccaatgctgaagttcaccagaagcctgtccatgccggacacctctgaggacatcccc
cctccaccgcagtctgtgcccccgtccccaccaccaccttccccaaccacttacaactgc
cccaagtccccaactccaagagtctacgggacgattaagcctgcgttcaatcagaattct
gccgccaaggtgtcccccgccaccaggtccgacaccgtggccaccatgatgagggagaag
gggatgtacttcaggagagagctggaccgctactccttggactctgaagacctctacagt
cggaatgccggcccgcaagccaacttccgcaacaagagaggccagatgccagaaaaccca
tactcagaggtggggaagatcgccagcaaagccgtctacgtccccgccaagcccgccagg
cggaaggggatgctggtgaagcagtccaacgtggaggacagccccgagaagacgtgctcc
atccctatcccgaccatcatcgtgaaggagccgtccaccagcagcagcggcaagagcagc
cagggcagcagcatggagatcgacccccaggccccggagccaccgagccagctgcggcct
gacgaaagcctgaccgtcagcagcccctttgccgccgccatcgccggagccgtccgcgac
cgtgagaagcggctggaagccaggaggaactccccggccttcctctccacagacctgggg
gatgaggatgtgggcctggggccacccgcccccaggacgcggccctccatgttccccgag
gagggggattttgctgacgaggacagcgctgagcagctgtcatcccccatgccgagtgcc
acgcccagggagcccgaaaaccatttcgtgggtggcgccgaggccagtgctccgggtgag
gctgggaggccgctgaattccacgtccaaagcccaggggcccgagagcagcccagcagtg
ccctccgcgagcagcggcacagccggccccgggaattatgtccacccactcacagggcgg
ctgcttgatcccagctccccgctggccctggcactctccgcaagggaccgagccatgaag
gagtctcaacagggacccaaaggggaggcccccaaggccgacctcaacaaacctctttac
attgataccaaaatgcggcccagcctggatgccggcttccctacggtcaccaggcagaac
acccggggacccctgaggcggcaggagacggagaacaagtacgagaccgacctgggccga
gaccggaaaggcgatgacaagaagaacatgctgatcgacatcatggacacgtcccagcag
aagtcggctggcctgctgatggtgcacaccgtggacgccactaagctggacaacgccctg
caggaagaggacgagaaggcagaggtggagatgaagccagacagctcgccgtccgaggtg
ccagaaggtgtttccgaaaccgaaggtgctttacagatctccgctgcccccgagcccacc
accgtgcccggcagaaccatcgtcgcggtgggctccatggaagaggcggtgattttgcca
ttccgcatccctcctccccctctggcatccgtggacttggatgaggattttatttttaca
gagccattgcctcctcccctggaatttgcaaatagttttgatatccccgatgaccgggca
gcttctgtcccggctctctcagacttagtgaagcagaagaaaagcgacacccctcagtcc
ccttcgttgaactccagccaaccaaccaactctgcagacagcaagaagccagccagtctt
tcaaactgtctgcctgcctcattcctgccaccccctgaaagctttgacgccgtcgccgac
tctgggatcgaggaggtggacagccggagtagcagcgaccaccacctcgagacgaccagc
actatctccaccgtgtctagcatctccaccctgtcttccgaaggtggagagaatgtggac
acctgcacagtctatgcagatgggcaagcatttatggttgacaaacccccagtacctcct
aagccaaaaatgaagcccatcattcacaaaagcaatgcactttatcaagacgcgctcgtg
gaagaagatgtagatagctttgttatccccccgcccgctcccccgcccccgccgggcagt
gcccagcctgggatggccaaggttctccagccaaggacctccaagttgtggggcgacgtc
acagagatcaaaagcccgattctctcaggcccaaaggcaaacgttattagtgaattgaac
tctatcctacagcaaatgaaccgagagaaattggcaaagccgggggaaggactggattca
ccaatgggagccaagtccgccagcctcgctccaagaagcccggagatcatgagcaccatc
tcaggtacacggagcacgacggtcaccttcactgttcgccccggcacctcccagcccatc
accctgcagagccggccccccgactatgaaagcaggacctcaggaacaagacgtgcccca
agccctgtggtctcgccaacagagatgaacaaagagaccctgcccgcccccctgtctgct
gccaccgcctctccttctcccgctctctcagatgtctttagccttccaagccagccccct
tctggggatctatttggcttgaacccagcgggacgcagtaggtcgccatccccctcgata
ctgcaacagccaatctcaaataagccttttacaactaaacctgtccacctgtggactaaa
ccagatgtggccgattggctggaaagtctaaacttgggtgaacataaagaggccttcatg
gacaatgagatcgatggcagtcacttaccaaacctgcagaaggaggacctcatcgatctt
ggggtaactcgagtcgggcacagaatgaacatagaaagggctttgaaacagctgctggac
agataa

KEGG   Homo sapiens (human): 50944Help
Entry
50944             CDS       T01001                                 

Gene name
SHANK1, SPANK-1, SSTRIP, synamon
Definition
(RefSeq) SH3 and multiple ankyrin repeat domains 1
  KO
K15009  SH3 and multiple ankyrin repeat domains protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    50944 (SHANK1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ank_2 Ank_4 SAM_1 Ank_5 Ank SH3_2 Ank_3 SAM_2 PDZ_6 SH3_1 PDZ SH3_9 FERM_f0 SAM_PNT
Motif
Other DBs
NCBI-GeneID: 50944
NCBI-ProteinID: NP_057232
OMIM: 604999
HGNC: 15474
Ensembl: ENSG00000161681
Vega: OTTHUMG00000137380
Pharos: Q9Y566(Tbio)
UniProt: Q9Y566
Structure
PDB: 

Position
19q13.33
AA seq 2161 aa AA seqDB search
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGR
SMSVPDDAHFSMMVFRIGIPDLHQTKCLRFNPDATIWTAKQQVLCALSESLQDVLNYGLF
QPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHI
DFRARDGMTALHKAACARHCLALTALLDLGGSPNYKDRRGLTPLFHTAMVGGDPRCCELL
LFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKE
TCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARR
RGPPGTGLTVPPALLRANSDTSMALPDWMVFSAPGAASSGAPGPTSGSQGQSQPSAPTTK
LSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGS
LGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRV
GWFPSDCLEEVANRSQESKQESRSDKAKRLFRHYTVGSYDSFDAPSLMDGIGPGSDYIIK
EKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGD
FLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPP
TISLRSKSMTSELEEMEYEQQPAPVPSMEKKRTVYQMALNKLDEILAAAQQTISASESPG
PGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIGAAEDDRPY
LAPPAMKFSRSLSVPGSEDIPPPPTTSPPEPPYSTPPVPSSSGRLTPSPRGGPFNPGSGG
PLPASSPASFDGPSPPDTRVGSREKSLYHSGPLPPAHHHPPHHHHHHAPPPQPHHHHAHP
PHPPEMETGGSPDDPPPRLALGPQPSLRGWRGGGPSPTPGAPSPSHHGSAGGGGGSSQGP
ALRYFQLPPRAASAAMYVPARSGRGRKGPLVKQTKVEGEPQKGGGLPPAPSPTSPASPQP
PPAVAAPSEKNSIPIPTIIIKAPSTSSSGRSSQGSSTEAEPPTQPEPTGGGGGGGSSPSP
APAMSPVPPSPSPVPTPASPSGPATLDFTSQFGAALVGAARREGGWQNEARRRSTLFLST
DAGDEDGGDGGLGTGAAPGPRLRHSKSIDEGMFSAEPYLRLESAGSGAGYGGYGAGSRAY
GGGGGSSAFTSFLPPRPLVHPLTGKALDPASPLGLALAARERALKESSEGGGAPQPPPRP
PSPRYEAPPPTPHHHSPHAHHEPVLRLWGASPPDPARRELGYRAGLGSQEKSLPASPPAA
RRSLLHRLPPTAPGVGPLLLQLGTEPPAPHPGVSKPWRSAAPEEPERLPLHVRFLENCQP
RAPVTSGRGPPSEDGPGVPPPSPRRSVPPSPTSPRASEENGLPLLVLPPPAPSVDVEDGE
FLFVEPLPPPLEFSNSFEKPESPLTPGPPHPLPDTPAPATPLPPVPPPAVAAAPPTLDST
ASSLTSYDSEVATLTQGASAAPGDPHPPGPPAPAAPAPAAPQPGPDPPPGTDSGIEEVDS
RSSSDHPLETISSASTLSSLSAEGGGSAGGGGGAGAGVASGPELLDTYVAYLDGQAFGGS
STPGPPYPPQLMTPSKLRGRALGASGGLRPGPSGGLRDPVTPTSPTVSVTGAGTDGLLAL
RACSGPPTAGVAGGPVAVEPEVPPVPLPTASSLPRKLLPWEEGPGPPPPPLPGPLAQPQA
SALATVKASIISELSSKLQQFGGSSAAGGALPWARGGSGGGGDSHHGGASYVPERTSSLQ
RQRLSDDSQSSLLSKPVSSLFQNWPKPPLPPLPTGTGVSPTAAAAPGATSPSASSSSTST
RHLQGVEFEMRPPLLRRAPSPSLLPASEHKVSPAPRPSSLPILPSGPLYPGLFDIRGSPT
GGAGGSADPFAPVFVPPHPGISGGLGGALSGASRSLSPTRLLSLPPDKPFGAKPLGFWTK
FDVADWLEWLGLAEHRAQFLDHEIDGSHLPALTKEDYVDLGVTRVGHRMNIDRALKFFLE
R
NT seq 6486 nt NT seq  +upstreamnt  +downstreamnt
atgacccacagccccgcgacaagcgaggacgaggaacgccacagtgccagcgagtgtccc
gaggggggctcagagtccgacagctccccagacgggccaggtcgaggcccccgggggacc
cggggccagggcagtggggcacctggtagcctggcctctgttagaggcctccagggccgc
tcaatgtccgtcccagacgacgcccacttcagcatgatggtcttcaggattggcatcccg
gacctgcaccagacaaaatgccttcgcttcaaccccgatgccaccatctggacggccaag
cagcaggtgctctgtgccctgagcgagagcctgcaggatgtgctcaactatggcctgttc
caaccggccacctccggccgcgatgccaacttcctggaggaggagaggctgctgcgggag
tacccccagtcctttgagaagggggtcccctacctggagttccgatacaagacccgagtt
tacaaacagaccaacctggatgagaagcagctggccaagttgcacacgaagacggggttg
aagaagttcctggagtatgtgcagctcgggacatctgacaaggtggcgcggctgctggac
aaggggctggaccccaattaccatgactcggattcgggagagacccccttgacactggcg
gcccagaccgaaggctctgtagaggtgattcgaaccctgtgcctgggcggggcccacatt
gacttccgggcccgggatggcatgaccgcactgcataaggccgcatgcgcccgacactgc
ctggcactcacggcgctcctggaccttgggggttcccccaactacaaggaccgtcggggg
ctgacccctctgttccacacggccatggtgggtggtgacccccgatgctgcgagctgctc
ctgttcaacagggcccagctgggcatagctgatgagaacggctggcaggaaatccaccag
gcctgccagcggggtcactctcagcacctggagcatctgcttttctacggggctgagcct
ggagcccagaacgcctcggggaacacggctctgcacatctgcgccctctacaacaaggag
acctgtgccaggatcctcctgtatcgaggtgccgacaaggatgtgaagaacaacaacgga
cagacccccttccaggtggcagtgattgctgggaattttgagctgggggagctgatccga
aaccaccgagaacaggatgtggtgcccttccaggagtcccccaagtacgcggcccggcga
cgggggcccccaggcacagggctgacggtgcccccggcgctgctgcgggccaacagtgac
accagcatggcgctgcccgactggatggtgttctccgccccgggggccgcgtcctctggg
gcccctggccctacctcagggtcccagggccagtcgcagccctcggcccccaccaccaag
ctcagcagcgggaccctccgaagtgccagcagcccccggggtgccagggcccgctctcca
tcccgagggaggcaccctgaggacgccaagaggcagccccgaggccggcccagctccagc
gggacaccccgggaagggccagccgggggcacggggggctcagggggccccgggggctcc
ctgggcagccgcgggaggcggaggaagctctactcagcggtacccggacgctccttcatg
gctgtgaagtcctaccaggcccaagccgagggggagatctccctgagcaagggcgagaag
atcaaagtacttagcatcggggaaggaggcttctgggaaggccaggtcaaaggtcgtgtt
ggctggttcccctctgactgcctggaagaagtggcgaatcgctctcaggagagcaagcaa
gaaagccgcagtgacaaggcaaagagactcttccggcattataccgtgggctcctacgac
agctttgatgccccaagcttaatggatgggattggcccagggagcgattacatcattaag
gagaagacagtcttgctgcagaagaaggacagtgaggggtttgggttcgtgctccggggg
gccaaggcgcagacccccatcgaggagttcacccccaccccggccttcccggcgctgcag
tacctggagtcggtggacgagggtggcgtggcatggcgagctggactgcgaatgggagac
ttcctcatcgaggtgaacgggcagaatgtggtgaaggtcggccaccgacaggtggtgaac
atgatccgccaagggggcaacacgctgatggtgaaggtggtgatggtcaccaggcacccg
gacatggatgaggcagtgcacaagaaagcaccccagcaggccaagcggctgccgccccca
accatctccctgcgttccaaatctatgacctcagagctggaggagatggagtacgagcag
cagccggcgccggtgcccagcatggagaaaaagcggaccgtgtatcagatggctctcaac
aaactggacgaaatcctggccgcagctcaacagaccatcagtgcaagcgaaagccctggt
cccggtggcctcgcgtccctgggcaaacaccgacccaaaggtttctttgccactgagtcg
agcttcgatccccaccaccgtgcccagccaagttacgagcgtccttctttcctgcctcca
ggacctgggttgatgctccggcaaaaatctatcggtgcggcagaagatgacagaccttac
ctagcacccccagccatgaaattcagccgcagcctgtctgtgcctggttcggaggacatt
cccccgccacccaccacgtccccaccggagcctccctacagcacacctccagtcccctcc
tcctcagggcgcctcaccccctcccctcggggagggcccttcaaccctggctctggtggc
cccctccccgcctcctcccctgcatcctttgacgggccctcccctcccgacactcgcgtg
gggagccgcgagaagagcctgtaccacagtgggcccctgcccccggcccaccaccacccg
ccccaccaccaccaccaccacgccccgccccctcagccccaccaccaccacgcccacccc
cctcatcctcccgagatggagacaggcggctctcccgacgaccctccaccccgcctggct
ctggggccccagcccagcctgcgaggctggaggggcggcgggcccagcccgaccccgggg
gccccgtccccatcgcaccacggcagcgcgggcgggggcggcggctcctcccagggcccg
gctctacgctatttccagctgcccccgcgggcggccagcgcagccatgtacgtgcccgcc
cgctcgggccgcggccgcaagggcccgctggtcaagcagaccaaggtggaaggcgagccc
cagaagggcggcggcctcccgcccgcgccgtcgcccacgtccccggcctccccgcagccg
ccgcccgccgtggccgcgccctcggagaagaactccatccccatccccaccatcatcatc
aaggccccgtccaccagtagcagcggccgcagcagccagggcagcagcaccgaggcggag
ccccccacccagccggagcccacgggaggcggcggcggcggcggctcctcgcccagcccc
gccccggccatgtcacccgtgcccccgtccccctcgcccgtgcccacccccgcctcgccc
agcggcccggccacgctggacttcacgagccagttcggggccgccctggtgggggcggcc
cggagggaggggggctggcagaatgaggcgcgccggcgctccacgctgttcctgtccacc
gacgcgggggacgaggacggcggggacggcgggctgggcacaggggcggccccgggcccg
cggctgcgccactccaaatccatcgacgagggcatgttctccgccgagccctacctccga
ctggagtctgcgggcagcggcgcgggctacggcggctacggggccggtagccgagcctac
gggggtggcgggggcagcagcgccttcaccagcttcctgcccccgcgacccctggtgcac
ccgctgaccggcaaggccctggatcccgcctccccgctggggctggccctggccgcccgc
gagcgagcgctgaaggagtcctcggagggcggcggggccccccagccgcctcccaggccc
ccatcgccccgctacgaggccccgccgcccaccccgcaccaccactcgccccacgcccac
cacgagccagtgctgcgtctctggggggcctccccgccggaccctgcgcgccgggagctg
gggtacagggccgggctgggcagccaggagaagtcccttcccgccagcccgcccgccgcc
cggcgttccctgctacaccgcctgccgcccaccgctcccggggtggggcccctcctgctg
cagctggggacggagcccccggccccgcaccccggagtaagcaagccctggaggtccgca
gcccccgaagaacccgagcggctgccgctgcacgtgcggttccttgaaaactgccagccc
cgggcccctgtgacgagcggaaggggtcccccctcggaggacgggccgggggtcccgccg
cccagcccacgccggtccgtgcccccctccccgacctccccgagggccagcgaagagaac
gggctgcccctgctggtcctgccgcctcccgccccctcggtggatgtggaagatggcgaa
ttccttttcgtggaaccgctgcctccgcctctggaattctccaacagcttcgaaaagcca
gagtcgcccctcacgcctgggcctccccacccgctgcccgacacacctgcccctgccacc
ccgttaccccctgtgccacccccggctgtggccgcagcccctcccaccctggactccacc
gcatccagcctgacatcctatgacagcgaggtggccaccctgacccagggggcctccgcc
gctcctggggacccccatccaccaggcccgcctgccccagcagcaccggctcccgctgcc
ccacagcctggcccggaccctccgcctggcacggattctggcatcgaggaggtggacagt
cggagcagcagtgaccacccactggagaccatcagcagcgcctccacgctgagcagccta
tctgccgaaggtggtggcagcgcagggggtgggggcggggctggggccggtgtggccagt
gggccggagcttctggacacctatgtggcctacctggacggccaggcctttgggggcagc
agtactcccggcccgccataccctcctcagctcatgactccctctaagctccggggccgg
gcgctaggagccagcggaggcctgcggcctggccccagcgggggactccgagaccctgtt
acccccaccagccccaccgtctcggtgacaggggctggaaccgatgggctgctggccctg
cgtgcttgttcaggaccccccacggcaggcgtggcggggggtccggtggctgtagagcca
gaagtcccaccggtgcccttgccgacggcctcctctctgccccggaagctgctgccctgg
gaggagggcccgggcccaccgccaccacctctgcccgggcccttggcccagcctcaggcc
tcagccttggccacagtaaaagccagcatcatcagtgaactcagctccaagcttcagcag
tttgggggctcctcggcagctggcggcgctctgccctgggcccgaggaggcagtggggga
ggcggagacagccaccacgggggagccagctatgtccccgagaggacctcctccctgcag
cggcagagactctccgacgactcccagtcctcactcctctccaagcctgtcagcagcctg
tttcagaactggcccaaaccacctctgccgccactccccaccggaacaggggtctcccct
acagccgctgcggccccaggggccacctcaccctcagcctcctcctcctccacgtccacc
cgccacctccagggcgtggagttcgagatgcggccccctctgctccgccgggcccccagc
ccctcgctgctgcccgcctcggagcacaaggtcagccctgcgcccaggccctcgtccctg
cccatcctgccttccggacccctctacccaggcctctttgacatccgtggctccccaact
ggaggggcaggaggctcggctgaccccttcgccccagtctttgtgccgccacacccgggg
atatccggggggctcgggggagccttgtcaggggcctcgcgctccctctcaccgacccgc
ctgctctcgctgcccccggacaagccgtttggcgctaaacctctggggttctggaccaag
ttcgacgtggctgattggctggagtggctgggtttggcggagcaccgagcccagttcctg
gaccacgagatcgatggctcccacctgcccgccttgaccaaggaggactacgtcgatcta
ggtgtgaccagggtgggccaccgcatgaacatcgaccgggctctcaaattcttcctggag
aggtga

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

Gene name
SHANK3, DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
Definition
(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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    85358 (SHANK3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SAM_1 Ank_2 Ank_4 SAM_2 SH3_2 Ank_5 PDZ_6 Ank_3 SH3_9 Ank PDZ SH3_1 FERM_f0
Motif
Other DBs
NCBI-GeneID: 85358
NCBI-ProteinID: NP_001358973
OMIM: 606230
HGNC: 14294
Ensembl: ENSG00000251322
Pharos: Q9BYB0(Tbio)
Structure
PDB: 

Position
22q13.33
AA seq 1806 aa AA seqDB search
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 NT seq  +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

DBGET integrated database retrieval system