Q9UPX8 (SHAN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
SH3 and multiple ankyrin repeat domains protein 2
Short name=Shank2

Alternative name(s):
Cortactin-binding protein 1
Short name=CortBP1
Proline-rich synapse-associated protein 1

Gene names

Name:	SHANK2
Synonyms:	CORTBP1, KIAA1022, PROSAP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1470 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.
Subunit structure	Interacts with CTTN/cortactin SH3 domain, DLGAP1/GKAP and alpha-latrotoxin receptor 1. Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with GRID2, SLC9A3, CFTR and PLCB3. Interacts with DBNL By similarity. Interacts with DNM2. Interacts with BAIAP2. Ref.8 Ref.9
Subcellular location	Cytoplasm By similarity. Cell junction › synapse By similarity. Cell junction › synapse › postsynaptic cell membrane › postsynaptic density By similarity. Note: Cytoplasm, postsynaptic density of neuronal cells By similarity.
Tissue specificity	Isoform 3 is present in epithelial colonic cells (at protein level). Ref.4
Domain	The PDZ domain is required for interaction with GRID2, PLCB3, CFTR and SLC9A3 By similarity.
Involvement in disease	Autism 17 (AUTS17) [MIM:613436]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.10
Sequence similarities	Belongs to the SHANK family. Contains 1 PDZ (DHR) domain. Contains 1 SAM (sterile alpha motif) domain. Contains 1 SH3 domain.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Cytoplasm Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative splicing
Domain	SH3-binding
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	intracellular signal transduction Non-traceable author statement. Source: UniProtKB
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW cilium membrane Inferred from sequence or structural similarity. Source: BHF-UCL cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell dendritic spine Inferred from sequence or structural similarity. Source: BHF-UCL postsynaptic density Inferred from electronic annotation. Source: UniProtKB-SubCell postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	GKAP/Homer scaffold activity Non-traceable author statement Ref.6. Source: UniProtKB ionotropic glutamate receptor binding Inferred from sequence or structural similarity. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CRK	P46108	2	EBI-1570571,EBI-886
GRB2	P62993	2	EBI-1570571,EBI-401755
NCK1	P16333	6	EBI-1570571,EBI-389883
PIK3R1	P27986	2	EBI-1570571,EBI-79464
PLCG1	P19174	4	EBI-1570571,EBI-79387

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q9UPX8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UPX8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.
     238-238: S → MMMNVPGGGAAAVMMTGYNNGRCPRNSLY
     472-490: DSRIFLSGITEEERQFLAP → GKKCGTPPQKLPLGFQTQP
     491-1470: Missing.

Isoform 3 (identifier: Q9UPX8-3)

Also known as: E;

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MKSLLNAFTKKE → MPRSPTSSED...YIKNHKETDI

Note: Contains 6 ANK repeats at positions 196-226, 230-259, 263-293, 297-326, 330-359, 363-393.

Isoform 4 (identifier: Q9UPX8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.
     238-238: S → MMMNVPGGGAAAVMMTGYNNGRCPRNSLY
     383-389: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1470	1470	SH3 and multiple ankyrin repeat domains protein 2		PRO_0000174673
Regions
	Domain	147 – 206	60	SH3
	Domain	247 – 341	95	PDZ
	Domain	1407 – 1470	64	SAM
	Motif	948 – 954	7	SH3-binding Potential
	Compositional bias	509 – 535	27	Pro-rich
Amino acid modifications
	Modified residue	581	1	Phosphoserine By similarity
	Modified residue	726	1	Phosphothreonine By similarity
	Modified residue	899	1	Phosphothreonine By similarity
	Modified residue	1330	1	Phosphoserine By similarity
	Modified residue	1334	1	Phosphoserine By similarity
	Modified residue	1336	1	Phosphothreonine By similarity
	Glycosylation	1288	1	O-linked (GlcNAc...) By similarity
Natural variations
	Alternative sequence	1 – 237	237	Missing in isoform 2 and isoform 4.		VSP_037793
	Alternative sequence	1 – 12	12	MKSLL…FTKKE → MPRSPTSSEDEMAQSFSDYS VGSESDSSKEETIYDTIRAT AEKPGGARTEESQGNTLVIR VVIHDLQQTKCIRFNPDATV WVAKQRILCTLTQSLKDVLN YGLFQPASNGRDGKFLDEER LLREYPQPVGEGVPSLEFRY KKRVYKQASLDEKQLAKLHT KTNLKKCMDHIQHRLVEKIT KMLDRGLDPNFHDPETGETP LTLAAQLDDSVEVIKALKNG GAHLDFRAKDGMTALHKAAR ARNQVALKTLLELGASPDYK DSYGLTPLYHTAIVGGDPYC CELLLHEHATVCCKDENGWH EIHQACRYGHVQHLEHLLFY GADMSAQNASGNTALHICAL YNQDSCARVLLFRGGNKELK NYNSQTPFQVAIIAGNFELA EYIKNHKETDI in isoform 3.		VSP_037794
	Alternative sequence	238	1	S → MMMNVPGGGAAAVMMTGYNN GRCPRNSLY in isoform 2 and isoform 4.		VSP_037795
	Alternative sequence	383 – 389	7	Missing in isoform 4.		VSP_037796
	Alternative sequence	472 – 490	19	DSRIF…QFLAP → GKKCGTPPQKLPLGFQTQP in isoform 2.		VSP_037797
	Alternative sequence	491 – 1470	980	Missing in isoform 2.		VSP_037798

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 28, 2009. Version 3. Checksum: 7322993CB9FE0929	FASTA	1,470	158,822
	10 20 30 40 50 60 MKSLLNAFTK KEVPFREAPA YSNRRRRPPN TLAAPRVLLR SNSDNNLNAS APDWAVCSTA 70 80 90 100 110 120 TSHRSLSPQL LQQMPSKPEG AAKTIGSYVP GPRSRSPSLN RLGGAGEDGK RPQPLWHVGS 130 140 150 160 170 180 PFALGANKDS LSAFEYPGPK RKLYSAVPGR LFVAVKPYQP QVDGEIPLHR GDRVKVLSIG 190 200 210 220 230 240 EGGFWEGSAR GHIGWFPAEC VEEVQCKPRD SQAETRADRS KKLFRHYTVG SYDSFDTSSD 250 260 270 280 290 300 CIIEEKTVVL QKKDNEGFGF VLRGAKADTP IEEFTPTPAF PALQYLESVD EGGVAWQAGL 310 320 330 340 350 360 RTGDFLIEVN NENVVKVGHR QVVNMIRQGG NHLVLKVVTV TRNLDPDDTA RKKAPPPPKR 370 380 390 400 410 420 APTTALTLRS KSMTSELEEL VDKASVRKKK DKPEEIVPAS KPSRAAENMA VEPRVATIKQ 430 440 450 460 470 480 RPSSRCFPAG SDMNSVYERQ GIAVMTPTVP GSPKAPFLGI PRGTMRRQKS IDSRIFLSGI 490 500 510 520 530 540 TEEERQFLAP PMLKFTRSLS MPDTSEDIPP PPQSVPPSPP PPSPTTYNCP KSPTPRVYGT 550 560 570 580 590 600 IKPAFNQNSA AKVSPATRSD TVATMMREKG MYFRRELDRY SLDSEDLYSR NAGPQANFRN 610 620 630 640 650 660 KRGQMPENPY SEVGKIASKA VYVPAKPARR KGMLVKQSNV EDSPEKTCSI PIPTIIVKEP 670 680 690 700 710 720 STSSSGKSSQ GSSMEIDPQA PEPPSQLRPD ESLTVSSPFA AAIAGAVRDR EKRLEARRNS 730 740 750 760 770 780 PAFLSTDLGD EDVGLGPPAP RTRPSMFPEE GDFADEDSAE QLSSPMPSAT PREPENHFVG 790 800 810 820 830 840 GAEASAPGEA GRPLNSTSKA QGPESSPAVP SASSGTAGPG NYVHPLTGRL LDPSSPLALA 850 860 870 880 890 900 LSARDRAMKE SQQGPKGEAP KADLNKPLYI DTKMRPSLDA GFPTVTRQNT RGPLRRQETE 910 920 930 940 950 960 NKYETDLGRD RKGDDKKNML IDIMDTSQQK SAGLLMVHTV DATKLDNALQ EEDEKAEVEM 970 980 990 1000 1010 1020 KPDSSPSEVP EGVSETEGAL QISAAPEPTT VPGRTIVAVG SMEEAVILPF RIPPPPLASV 1030 1040 1050 1060 1070 1080 DLDEDFIFTE PLPPPLEFAN SFDIPDDRAA SVPALSDLVK QKKSDTPQSP SLNSSQPTNS 1090 1100 1110 1120 1130 1140 ADSKKPASLS NCLPASFLPP PESFDAVADS GIEEVDSRSS SDHHLETTST ISTVSSISTL 1150 1160 1170 1180 1190 1200 SSEGGENVDT CTVYADGQAF MVDKPPVPPK PKMKPIIHKS NALYQDALVE EDVDSFVIPP 1210 1220 1230 1240 1250 1260 PAPPPPPGSA QPGMAKVLQP RTSKLWGDVT EIKSPILSGP KANVISELNS ILQQMNREKL 1270 1280 1290 1300 1310 1320 AKPGEGLDSP MGAKSASLAP RSPEIMSTIS GTRSTTVTFT VRPGTSQPIT LQSRPPDYES 1330 1340 1350 1360 1370 1380 RTSGTRRAPS PVVSPTEMNK ETLPAPLSAA TASPSPALSD VFSLPSQPPS GDLFGLNPAG 1390 1400 1410 1420 1430 1440 RSRSPSPSIL QQPISNKPFT TKPVHLWTKP DVADWLESLN LGEHKEAFMD NEIDGSHLPN 1450 1460 1470 LQKEDLIDLG VTRVGHRMNI ERALKQLLDR
	Isoform 2 [UniParc]. Checksum: BD2ECD1A98B92FF4	FASTA	281	30,564
	10 20 30 40 50 60 MMMNVPGGGA AAVMMTGYNN GRCPRNSLYS DCIIEEKTVV LQKKDNEGFG FVLRGAKADT 70 80 90 100 110 120 PIEEFTPTPA FPALQYLESV DEGGVAWQAG LRTGDFLIEV NNENVVKVGH RQVVNMIRQG 130 140 150 160 170 180 GNHLVLKVVT VTRNLDPDDT ARKKAPPPPK RAPTTALTLR SKSMTSELEE LVDKASVRKK 190 200 210 220 230 240 KDKPEEIVPA SKPSRAAENM AVEPRVATIK QRPSSRCFPA GSDMNSVYER QGIAVMTPTV 250 260 270 280 PGSPKAPFLG IPRGTMRRQK SIGKKCGTPP QKLPLGFQTQ P
	Isoform 3 (E) [UniParc]. Checksum: 45550DC5D5701399	FASTA	1,849	201,261
	10 20 30 40 50 60 MPRSPTSSED EMAQSFSDYS VGSESDSSKE ETIYDTIRAT AEKPGGARTE ESQGNTLVIR 70 80 90 100 110 120 VVIHDLQQTK CIRFNPDATV WVAKQRILCT LTQSLKDVLN YGLFQPASNG RDGKFLDEER 130 140 150 160 170 180 LLREYPQPVG EGVPSLEFRY KKRVYKQASL DEKQLAKLHT KTNLKKCMDH IQHRLVEKIT 190 200 210 220 230 240 KMLDRGLDPN FHDPETGETP LTLAAQLDDS VEVIKALKNG GAHLDFRAKD GMTALHKAAR 250 260 270 280 290 300 ARNQVALKTL LELGASPDYK DSYGLTPLYH TAIVGGDPYC CELLLHEHAT VCCKDENGWH 310 320 330 340 350 360 EIHQACRYGH VQHLEHLLFY GADMSAQNAS GNTALHICAL YNQDSCARVL LFRGGNKELK 370 380 390 400 410 420 NYNSQTPFQV AIIAGNFELA EYIKNHKETD IVPFREAPAY SNRRRRPPNT LAAPRVLLRS 430 440 450 460 470 480 NSDNNLNASA PDWAVCSTAT SHRSLSPQLL QQMPSKPEGA AKTIGSYVPG PRSRSPSLNR 490 500 510 520 530 540 LGGAGEDGKR PQPLWHVGSP FALGANKDSL SAFEYPGPKR KLYSAVPGRL FVAVKPYQPQ 550 560 570 580 590 600 VDGEIPLHRG DRVKVLSIGE GGFWEGSARG HIGWFPAECV EEVQCKPRDS QAETRADRSK 610 620 630 640 650 660 KLFRHYTVGS YDSFDTSSDC IIEEKTVVLQ KKDNEGFGFV LRGAKADTPI EEFTPTPAFP 670 680 690 700 710 720 ALQYLESVDE GGVAWQAGLR TGDFLIEVNN ENVVKVGHRQ VVNMIRQGGN HLVLKVVTVT 730 740 750 760 770 780 RNLDPDDTAR KKAPPPPKRA PTTALTLRSK SMTSELEELV DKASVRKKKD KPEEIVPASK 790 800 810 820 830 840 PSRAAENMAV EPRVATIKQR PSSRCFPAGS DMNSVYERQG IAVMTPTVPG SPKAPFLGIP 850 860 870 880 890 900 RGTMRRQKSI DSRIFLSGIT EEERQFLAPP MLKFTRSLSM PDTSEDIPPP PQSVPPSPPP 910 920 930 940 950 960 PSPTTYNCPK SPTPRVYGTI KPAFNQNSAA KVSPATRSDT VATMMREKGM YFRRELDRYS 970 980 990 1000 1010 1020 LDSEDLYSRN AGPQANFRNK RGQMPENPYS EVGKIASKAV YVPAKPARRK GMLVKQSNVE 1030 1040 1050 1060 1070 1080 DSPEKTCSIP IPTIIVKEPS TSSSGKSSQG SSMEIDPQAP EPPSQLRPDE SLTVSSPFAA 1090 1100 1110 1120 1130 1140 AIAGAVRDRE KRLEARRNSP AFLSTDLGDE DVGLGPPAPR TRPSMFPEEG DFADEDSAEQ 1150 1160 1170 1180 1190 1200 LSSPMPSATP REPENHFVGG AEASAPGEAG RPLNSTSKAQ GPESSPAVPS ASSGTAGPGN 1210 1220 1230 1240 1250 1260 YVHPLTGRLL DPSSPLALAL SARDRAMKES QQGPKGEAPK ADLNKPLYID TKMRPSLDAG 1270 1280 1290 1300 1310 1320 FPTVTRQNTR GPLRRQETEN KYETDLGRDR KGDDKKNMLI DIMDTSQQKS AGLLMVHTVD 1330 1340 1350 1360 1370 1380 ATKLDNALQE EDEKAEVEMK PDSSPSEVPE GVSETEGALQ ISAAPEPTTV PGRTIVAVGS 1390 1400 1410 1420 1430 1440 MEEAVILPFR IPPPPLASVD LDEDFIFTEP LPPPLEFANS FDIPDDRAAS VPALSDLVKQ 1450 1460 1470 1480 1490 1500 KKSDTPQSPS LNSSQPTNSA DSKKPASLSN CLPASFLPPP ESFDAVADSG IEEVDSRSSS 1510 1520 1530 1540 1550 1560 DHHLETTSTI STVSSISTLS SEGGENVDTC TVYADGQAFM VDKPPVPPKP KMKPIIHKSN 1570 1580 1590 1600 1610 1620 ALYQDALVEE DVDSFVIPPP APPPPPGSAQ PGMAKVLQPR TSKLWGDVTE IKSPILSGPK 1630 1640 1650 1660 1670 1680 ANVISELNSI LQQMNREKLA KPGEGLDSPM GAKSASLAPR SPEIMSTISG TRSTTVTFTV 1690 1700 1710 1720 1730 1740 RPGTSQPITL QSRPPDYESR TSGTRRAPSP VVSPTEMNKE TLPAPLSAAT ASPSPALSDV 1750 1760 1770 1780 1790 1800 FSLPSQPPSG DLFGLNPAGR SRSPSPSILQ QPISNKPFTT KPVHLWTKPD VADWLESLNL 1810 1820 1830 1840 GEHKEAFMDN EIDGSHLPNL QKEDLIDLGV TRVGHRMNIE RALKQLLDR
	Isoform 4 [UniParc]. Checksum: F9D53FB165A65E0A	FASTA	1,254	134,931
	10 20 30 40 50 60 MMMNVPGGGA AAVMMTGYNN GRCPRNSLYS DCIIEEKTVV LQKKDNEGFG FVLRGAKADT 70 80 90 100 110 120 PIEEFTPTPA FPALQYLESV DEGGVAWQAG LRTGDFLIEV NNENVVKVGH RQVVNMIRQG 130 140 150 160 170 180 GNHLVLKVVT VTRNLDPDDT ARKKAPPPPK RAPTTALTLR SKSMTSELEE LVDKDKPEEI 190 200 210 220 230 240 VPASKPSRAA ENMAVEPRVA TIKQRPSSRC FPAGSDMNSV YERQGIAVMT PTVPGSPKAP 250 260 270 280 290 300 FLGIPRGTMR RQKSIDSRIF LSGITEEERQ FLAPPMLKFT RSLSMPDTSE DIPPPPQSVP 310 320 330 340 350 360 PSPPPPSPTT YNCPKSPTPR VYGTIKPAFN QNSAAKVSPA TRSDTVATMM REKGMYFRRE 370 380 390 400 410 420 LDRYSLDSED LYSRNAGPQA NFRNKRGQMP ENPYSEVGKI ASKAVYVPAK PARRKGMLVK 430 440 450 460 470 480 QSNVEDSPEK TCSIPIPTII VKEPSTSSSG KSSQGSSMEI DPQAPEPPSQ LRPDESLTVS 490 500 510 520 530 540 SPFAAAIAGA VRDREKRLEA RRNSPAFLST DLGDEDVGLG PPAPRTRPSM FPEEGDFADE 550 560 570 580 590 600 DSAEQLSSPM PSATPREPEN HFVGGAEASA PGEAGRPLNS TSKAQGPESS PAVPSASSGT 610 620 630 640 650 660 AGPGNYVHPL TGRLLDPSSP LALALSARDR AMKESQQGPK GEAPKADLNK PLYIDTKMRP 670 680 690 700 710 720 SLDAGFPTVT RQNTRGPLRR QETENKYETD LGRDRKGDDK KNMLIDIMDT SQQKSAGLLM 730 740 750 760 770 780 VHTVDATKLD NALQEEDEKA EVEMKPDSSP SEVPEGVSET EGALQISAAP EPTTVPGRTI 790 800 810 820 830 840 VAVGSMEEAV ILPFRIPPPP LASVDLDEDF IFTEPLPPPL EFANSFDIPD DRAASVPALS 850 860 870 880 890 900 DLVKQKKSDT PQSPSLNSSQ PTNSADSKKP ASLSNCLPAS FLPPPESFDA VADSGIEEVD 910 920 930 940 950 960 SRSSSDHHLE TTSTISTVSS ISTLSSEGGE NVDTCTVYAD GQAFMVDKPP VPPKPKMKPI 970 980 990 1000 1010 1020 IHKSNALYQD ALVEEDVDSF VIPPPAPPPP PGSAQPGMAK VLQPRTSKLW GDVTEIKSPI 1030 1040 1050 1060 1070 1080 LSGPKANVIS ELNSILQQMN REKLAKPGEG LDSPMGAKSA SLAPRSPEIM STISGTRSTT 1090 1100 1110 1120 1130 1140 VTFTVRPGTS QPITLQSRPP DYESRTSGTR RAPSPVVSPT EMNKETLPAP LSAATASPSP 1150 1160 1170 1180 1190 1200 ALSDVFSLPS QPPSGDLFGL NPAGRSRSPS PSILQQPISN KPFTTKPVHL WTKPDVADWL 1210 1220 1230 1240 1250 ESLNLGEHKE AFMDNEIDGS HLPNLQKEDL IDLGVTRVGH RMNIERALKQ LLDR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A molecular scaffolding protein, Shank2, is a potent tumor suppressor in esophageal squamous cell carcinoma." Akahane T., Hosoda F., Arai Y., Fujisawa N., Kitabayashi I., Ohta T., Aoyagi K., Sasaki H., Nakanishi Y., Hirohashi S., Ohki M. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
[2]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[4]	"Shank2 associates with and regulates Na+/H+ exchanger 3." Han W., Kim K.H., Jo M.J., Lee J.H., Yang J., Doctor R.B., Moe O.W., Lee J., Kim E., Lee M.G. J. Biol. Chem. 281:1461-1469(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-328 (ISOFORM 3), TISSUE SPECIFICITY.
[5]	"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Brain.
[6]	"Characterization of the shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development." Lim S., Naisbitt S., Yoon J., Hwang J.-I., Suh P.-G., Sheng M., Kim E. J. Biol. Chem. 274:29510-29518(1999) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[7]	"The Shank family of scaffold proteins." Sheng M., Kim E. J. Cell Sci. 113:1851-1856(2000) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW.
[8]	"Dynamin isoform-specific interaction with the shank/ProSAP scaffolding proteins of the postsynaptic density and actin cytoskeleton." Okamoto P.M., Gamby C., Wells D., Fallon J., Vallee R.B. J. Biol. Chem. 276:48458-48465(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DNM2.
[9]	"The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42." Soltau M., Richter D., Kreienkamp H.-J. Mol. Cell. Neurosci. 21:575-583(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH BAIAP2.
[10]	"Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation." Berkel S., Marshall C.R., Weiss B., Howe J., Roeth R., Moog U., Endris V., Roberts W., Szatmari P., Pinto D., Bonin M., Riess A., Engels H., Sprengel R., Scherer S.W., Rappold G.A. Nat. Genet. 42:489-491(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN AUTS17.
[11]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB208025 mRNA. Translation: BAH37016.1. AB208026 mRNA. Translation: BAH37017.1. AP000590 Genomic DNA. No translation available. AP001271 Genomic DNA. No translation available. AP003783 Genomic DNA. No translation available. AP005401 Genomic DNA. No translation available. BC093885 mRNA. Translation: AAH93885.1. BC112097 mRNA. Translation: AAI12098.1. DQ152234 mRNA. Translation: AAZ77790.1. AB028945 mRNA. Translation: BAA82974.1. AF141901 mRNA. Translation: AAF02496.1.
IPI	IPI00107633. IPI00929746. IPI00939371. IPI00952742.
RefSeq	NP_036441.2. NM_012309.3.
UniGene	Hs.268726.
3D structure databases
ProteinModelPortal	Q9UPX8.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-52255N.
IntAct	Q9UPX8. 7 interactions.
MINT	MINT-2822695.
STRING	9606.ENSP00000345193.
Polymorphism databases
DMDM	254763402.
Proteomic databases
PaxDb	Q9UPX8.
PRIDE	Q9UPX8.
Protocols and materials databases
DNASU	22941.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000423696; ENSP00000394536; ENSG00000162105. ENST00000449833; ENSP00000399423; ENSG00000162105.
GeneID	22941.
KEGG	hsa:22941.
UCSC	uc001opz.3. human. uc001oqc.3. human.
Organism-specific databases
CTD	22941.
GeneCards	GC11M070313.
H-InvDB	HIX0171293.
HGNC	HGNC:14295. SHANK2.
HPA	HPA008174.
MIM	603290. gene. 613436. phenotype.
neXtProt	NX_Q9UPX8.
PharmGKB	PA37867.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG265246.
HOGENOM	HOG000293276.
HOVERGEN	HBG054027.
KO	K15009.
Gene expression databases
ArrayExpress	Q9UPX8.
Bgee	Q9UPX8.
CleanEx	HS_SHANK2.
Genevestigator	Q9UPX8.
GermOnline	ENSG00000162105. Homo sapiens.
Family and domain databases
Gene3D	1.10.150.50. 1 hit.
InterPro	IPR001478. PDZ. IPR001660. SAM. IPR013761. SAM/pointed. IPR021129. SAM_type1. IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view]
Pfam	PF00595. PDZ. 1 hit. PF00536. SAM_1. 1 hit. PF07653. SH3_2. 1 hit. [Graphical view]
SMART	SM00228. PDZ. 1 hit. SM00454. SAM. 1 hit. SM00326. SH3. 1 hit. [Graphical view]
SUPFAM	SSF50156. PDZ. 1 hit. SSF47769. SAM_homology. 1 hit. SSF50044. SH3. 1 hit.
PROSITE	PS50106. PDZ. 1 hit. PS50105. SAM_DOMAIN. 1 hit. PS50002. SH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	22941.
NextBio	43691.
SOURCE	Search...

Entry information

Entry name

SHAN2_HUMAN

Accession

Primary (citable) accession number: Q9UPX8
Secondary accession number(s): C0SPG8 , C0SPG9, Q3Y8G9, Q52LK2, Q9UKP1

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 26, 2002
Last sequence update:	July 28, 2009
Last modified:	May 1, 2013
This is version 119 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.