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

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