Reviewed, UniProtKB/Swiss-Prot Q9P1A6 (DLGP2_HUMAN)

Names and origin

Protein names

Recommended name:
    Disks large-associated protein 2
      Short name=DAP-2
Alternative name(s):
    SAP90/PSD-95-associated protein 2
      Short name=SAPAP2
    PSD-95/SAP90-binding protein 2

Gene names

Name:	DLGAP2
Synonyms:	DAP2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1054 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.
Subunit structure	Interacts with DLG1 and DLG4/PSD-95 By similarity.
Subcellular location	Cell membrane; Peripheral membrane protein By similarity. Cell junction › synapse › postsynaptic cell membrane › postsynaptic density By similarity. Cell junction › synapse By similarity. Note: Postsynaptic density of neuronal cells By similarity.
Tissue specificity	Expressed in brain and kidney.
Sequence similarities	Belongs to the SAPAP family.
Sequence caution	The sequence EAW51475.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	nerve-nerve synaptic transmission Non-traceable author statement. Source: UniProtKB
Cellular component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW extrinsic to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell neurofilament Non-traceable author statement. Source: UniProtKB postsynaptic density Inferred from electronic annotation. Source: UniProtKB-SubCell postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ABL1	P00519	1	EBI-1753397,EBI-375543
CRK	P46108	1	EBI-1753397,EBI-886
FYN	P06241	1	EBI-1753397,EBI-515315
GRB2	P62993	1	EBI-1753397,EBI-401755
NCK1	P16333	1	EBI-1753397,EBI-389883
PIK3R1	P27986	1	EBI-1753397,EBI-79464
SRC	P12931	1	EBI-1753397,EBI-621482

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9P1A6-1)

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: Q9P1A6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     720-733: Missing.

Isoform 3 (identifier: Q9P1A6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1054	1054	Disks large-associated protein 2		PRO_0000174291
Amino acid modifications
	Modified residue	224	1	Phosphoserine By similarity
	Modified residue	308	1	Phosphotyrosine By similarity
	Modified residue	436	1	Phosphoserine By similarity
	Modified residue	446	1	Phosphoserine By similarity
	Modified residue	449	1	Phosphoserine By similarity
	Modified residue	570	1	Phosphoserine By similarity
	Modified residue	740	1	Phosphoserine By similarity
	Modified residue	1007	1	Phosphoserine By similarity
	Modified residue	1035	1	Phosphoserine By similarity
	Modified residue	1042	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 79	79	Missing in isoform 3.		VSP_006011
	Alternative sequence	720 – 733	14	Missing in isoform 2.		VSP_006012
	Natural variant	419	1	P → Q: dbSNP rs2301963.		VAR_023073
	Natural variant	620	1	T → M: dbSNP rs7463888.		VAR_036750
Experimental info
	Sequence conflict	463	1	P → Q in EAW51474. Ref.3
	Sequence conflict	463	1	P → Q in EAW51475. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 23, 2007. Version 4. Checksum: C03A1240B32442AA	FASTA	1,054	117,620
	10 20 30 40 50 60 MGTAQVLPGI LQKHCCILPD RNTESQCTLC GEPEEEEAGD LVQPGISFPG PAEEDLDPQY 70 80 90 100 110 120 SWSPTQHFNE ERYSPAPRSM KGLSGSRTQP PLCSGHTCGL APPEDCEHLH HGPDARPPYL 130 140 150 160 170 180 LSPADSCPGG RHRCSPRSSV HSECVMMPVV LGDHVSSSTF PRMHYSSHYD TRDDCAVAHA 190 200 210 220 230 240 GAKINRIPAN LLDQFEKQLP LHRDGFHTLQ YQRTSAAAEQ RSESPGRIRH LVHSVQKLFT 250 260 270 280 290 300 KSHSLEGSSK SNANGTKADG RADDHHHAHH AKHSKRSKSK ERKPEGKPRP GMSSWWSSDD 310 320 330 340 350 360 NLDSDSTYRT PSVLNRHHLG PVAHCYPDAL QSPFGDLSLK TSKSNNDVKC SACEGLALTP 370 380 390 400 410 420 DAKYLKRSSW STLTVSQAKE AYRKSSLNLD KPLLHQDAKP ALRPCHYLQV PQDEWGGYPT 430 440 450 460 470 480 GGKDEEIPCR RMRSGSYIKA MGDEESGESD SSPKTSPKSA ILPEPLLKSI GQRPLGEHQT 490 500 510 520 530 540 QTYLQAASDV PVGHSLDPAA NYNSPKFRSR NQSYMRAVST LSQASCVSQV SEAEINGQFE 550 560 570 580 590 600 SVCESVFSEV ESQAMDALDL PGCFRTRSHS YLRAIQAGYS QDDECIPMMT PSDITSTIRS 610 620 630 640 650 660 TAAVSYTNYK KTPPPVPPRT TSKPLISVTA QSSTESTQDA YQDSRAQRMS PWPQDSRGLY 670 680 690 700 710 720 NSTDSLDSNK AMNLALETAA AQRHLPESQS SSVRTSDKAI LVSKAEELLK SRCSSIGIQD 730 740 750 760 770 780 SEFPEHQPYP RSDVETATDS DTESRGLREY HSVGVQVEDE KRHGRFKRSN SVTAAVQADL 790 800 810 820 830 840 ELEGFPGHIT TEDKGLQFGS SFQRHSEPST PTQYSAVRTV RTQGLFSYRE DYRTQVDTST 850 860 870 880 890 900 LPPPDPWLEP AIDTVETGRM SPCRRDGSWF LKLLHAETKR MEGWCKEMER EAEENDLSEE 910 920 930 940 950 960 ILGKIRSAVG SAQLLMSQKF QQFYWLCQQN MDPSAMPRPT SQDLAGYWDM LQLSIEDVSM 970 980 990 1000 1010 1020 KFDELQRLRL NDWKMMESPE RKEERKVPPP IPKKPPKGKF PITREKSLDL PDRQRQEARR 1030 1040 1050 RLMAAKRAAS FRQNSASERA DSIEIYIPEA QTRL
	Isoform 2. Checksum: B7D05C8A6A3FBCEE	FASTA	1,040	115,934
	10 20 30 40 50 60 MGTAQVLPGI LQKHCCILPD RNTESQCTLC GEPEEEEAGD LVQPGISFPG PAEEDLDPQY 70 80 90 100 110 120 SWSPTQHFNE ERYSPAPRSM KGLSGSRTQP PLCSGHTCGL APPEDCEHLH HGPDARPPYL 130 140 150 160 170 180 LSPADSCPGG RHRCSPRSSV HSECVMMPVV LGDHVSSSTF PRMHYSSHYD TRDDCAVAHA 190 200 210 220 230 240 GAKINRIPAN LLDQFEKQLP LHRDGFHTLQ YQRTSAAAEQ RSESPGRIRH LVHSVQKLFT 250 260 270 280 290 300 KSHSLEGSSK SNANGTKADG RADDHHHAHH AKHSKRSKSK ERKPEGKPRP GMSSWWSSDD 310 320 330 340 350 360 NLDSDSTYRT PSVLNRHHLG PVAHCYPDAL QSPFGDLSLK TSKSNNDVKC SACEGLALTP 370 380 390 400 410 420 DAKYLKRSSW STLTVSQAKE AYRKSSLNLD KPLLHQDAKP ALRPCHYLQV PQDEWGGYPT 430 440 450 460 470 480 GGKDEEIPCR RMRSGSYIKA MGDEESGESD SSPKTSPKSA ILPEPLLKSI GQRPLGEHQT 490 500 510 520 530 540 QTYLQAASDV PVGHSLDPAA NYNSPKFRSR NQSYMRAVST LSQASCVSQV SEAEINGQFE 550 560 570 580 590 600 SVCESVFSEV ESQAMDALDL PGCFRTRSHS YLRAIQAGYS QDDECIPMMT PSDITSTIRS 610 620 630 640 650 660 TAAVSYTNYK KTPPPVPPRT TSKPLISVTA QSSTESTQDA YQDSRAQRMS PWPQDSRGLY 670 680 690 700 710 720 NSTDSLDSNK AMNLALETAA AQRHLPESQS SSVRTSDKAI LVSKAEELLK SRCSSIGIQV 730 740 750 760 770 780 ETATDSDTES RGLREYHSVG VQVEDEKRHG RFKRSNSVTA AVQADLELEG FPGHITTEDK 790 800 810 820 830 840 GLQFGSSFQR HSEPSTPTQY SAVRTVRTQG LFSYREDYRT QVDTSTLPPP DPWLEPAIDT 850 860 870 880 890 900 VETGRMSPCR RDGSWFLKLL HAETKRMEGW CKEMEREAEE NDLSEEILGK IRSAVGSAQL 910 920 930 940 950 960 LMSQKFQQFY WLCQQNMDPS AMPRPTSQDL AGYWDMLQLS IEDVSMKFDE LQRLRLNDWK 970 980 990 1000 1010 1020 MMESPERKEE RKVPPPIPKK PPKGKFPITR EKSLDLPDRQ RQEARRRLMA AKRAASFRQN 1030 1040 SASERADSIE IYIPEAQTRL
	Isoform 3. Checksum: 1E65227B3E3FA7DC	FASTA	975	108,908
	10 20 30 40 50 60 MKGLSGSRTQ PPLCSGHTCG LAPPEDCEHL HHGPDARPPY LLSPADSCPG GRHRCSPRSS 70 80 90 100 110 120 VHSECVMMPV VLGDHVSSST FPRMHYSSHY DTRDDCAVAH AGAKINRIPA NLLDQFEKQL 130 140 150 160 170 180 PLHRDGFHTL QYQRTSAAAE QRSESPGRIR HLVHSVQKLF TKSHSLEGSS KSNANGTKAD 190 200 210 220 230 240 GRADDHHHAH HAKHSKRSKS KERKPEGKPR PGMSSWWSSD DNLDSDSTYR TPSVLNRHHL 250 260 270 280 290 300 GPVAHCYPDA LQSPFGDLSL KTSKSNNDVK CSACEGLALT PDAKYLKRSS WSTLTVSQAK 310 320 330 340 350 360 EAYRKSSLNL DKPLLHQDAK PALRPCHYLQ VPQDEWGGYP TGGKDEEIPC RRMRSGSYIK 370 380 390 400 410 420 AMGDEESGES DSSPKTSPKS AILPEPLLKS IGQRPLGEHQ TQTYLQAASD VPVGHSLDPA 430 440 450 460 470 480 ANYNSPKFRS RNQSYMRAVS TLSQASCVSQ VSEAEINGQF ESVCESVFSE VESQAMDALD 490 500 510 520 530 540 LPGCFRTRSH SYLRAIQAGY SQDDECIPMM TPSDITSTIR STAAVSYTNY KKTPPPVPPR 550 560 570 580 590 600 TTSKPLISVT AQSSTESTQD AYQDSRAQRM SPWPQDSRGL YNSTDSLDSN KAMNLALETA 610 620 630 640 650 660 AAQRHLPESQ SSSVRTSDKA ILVSKAEELL KSRCSSIGIQ DSEFPEHQPY PRSDVETATD 670 680 690 700 710 720 SDTESRGLRE YHSVGVQVED EKRHGRFKRS NSVTAAVQAD LELEGFPGHI TTEDKGLQFG 730 740 750 760 770 780 SSFQRHSEPS TPTQYSAVRT VRTQGLFSYR EDYRTQVDTS TLPPPDPWLE PAIDTVETGR 790 800 810 820 830 840 MSPCRRDGSW FLKLLHAETK RMEGWCKEME REAEENDLSE EILGKIRSAV GSAQLLMSQK 850 860 870 880 890 900 FQQFYWLCQQ NMDPSAMPRP TSQDLAGYWD MLQLSIEDVS MKFDELQRLR LNDWKMMESP 910 920 930 940 950 960 ERKEERKVPP PIPKKPPKGK FPITREKSLD LPDRQRQEAR RRLMAAKRAA SFRQNSASER 970 ADSIEIYIPE AQTRL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Positional cloning and characterization of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation." Ranta S., Zhang Y., Ross B., Takkunen E., Hirvasniemi A., de la Chapelle A., Gilliam T.C., Lehesjoki A.-E. Eur. J. Hum. Genet. 8:381-384(2000) [PubMed: 10854099] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [MRNA] OF 36-1054 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 98-1054 (ISOFORM 2). Tissue: Brain and Testis.
[2]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed: 16421571] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[5]	"DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95." Satoh K., Yanai H., Senda T., Kohu K., Nakamura T., Okumura N., Matsumine A., Kobayashi S., Toyoshima K., Akiyama T. Genes Cells 2:415-424(1997) [PubMed: 9286858] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 517-1054 (ISOFORMS 1 AND 3). Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF119817 mRNA. Translation: AAF34344.1. AF119818 mRNA. Translation: AAF34345.1. AF009204 mRNA. Translation: AAB71661.1. AC100797 Genomic DNA. No translation available. AC026950 Genomic DNA. No translation available. AC110288 Genomic DNA. No translation available. CH471181 Genomic DNA. Translation: EAW51474.1. CH471181 Genomic DNA. Translation: EAW51475.1. Sequence problems. BC141862 mRNA. Translation: AAI41863.1. AB000275 mRNA. Translation: BAA23256.1.
IPI	IPI00033086. IPI00221115. IPI00221116.
PIR	T03306.
RefSeq	NP_004736.2.
UniGene	Hs.113287
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9P1A6. 7 interactions.
STRING	Q9P1A6.
PTM databases
PhosphoSite	Q9P1A6.
Genome annotation databases
Ensembl	ENST00000357934; ENSP00000350614; ENSG00000198010; Homo sapiens. [Genome view]
GeneID	9228.
KEGG	hsa:9228.
UCSC	uc003wpl.1. human.
Organism-specific databases
CTD	9228.
GeneCards	GC08P001436.
HGNC	HGNC:2906. DLGAP2.
MIM	605438. gene.
PharmGKB	PA27362.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18117.
HOGENOM	HBG444624.
HOVERGEN	Q9P1A6.
InParanoid	Q9P1A6.
Gene expression databases
ArrayExpress	Q9P1A6.
Bgee	Q9P1A6.
CleanEx	HS_DLGAP2.
Genevestigator	Q9P1A6.
GermOnline	ENSG00000198010. Homo sapiens.
Family and domain databases
InterPro	IPR005026. GKAP. [Graphical view]
Pfam	PF03359. GKAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	34587.
SOURCE	Search...

Entry information

Entry name

DLGP2_HUMAN

Accession

Primary (citable) accession number: Q9P1A6
Secondary accession number(s): A1QCF8 , A1QCF9, A5D8Y2, O14488, O14664, Q9P1A7

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	October 23, 2007
Last modified:	January 19, 2010
This is version 65 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.