DLGP2_HUMAN
ID DLGP2_HUMAN Reviewed; 1054 AA.
AC Q9P1A6; A1QCF8; A1QCF9; A5D8Y2; O14488; O14664; Q9P1A7;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 4.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Disks large-associated protein 2 {ECO:0000305};
DE Short=DAP-2;
DE AltName: Full=PSD-95/SAP90-binding protein 2;
DE AltName: Full=SAP90/PSD-95-associated protein 2;
DE Short=SAPAP2;
GN Name=DLGAP2 {ECO:0000312|HGNC:HGNC:2906};
GN Synonyms=C8orf68 {ECO:0000312|HGNC:HGNC:2906}, DAP2,
GN ERICH1-AS1 {ECO:0000312|HGNC:HGNC:2906};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [MRNA] OF
RP 36-1054 (ISOFORM 1), AND NUCLEOTIDE SEQUENCE [MRNA] OF 98-1054 (ISOFORM 2).
RC TISSUE=Brain, and Testis;
RX PubMed=10854099; DOI=10.1038/sj.ejhg.5200440;
RA Ranta S., Zhang Y., Ross B., Takkunen E., Hirvasniemi A.,
RA de la Chapelle A., Gilliam T.C., Lehesjoki A.-E.;
RT "Positional cloning and characterization of the human DLGAP2 gene and its
RT exclusion in progressive epilepsy with mental retardation.";
RL Eur. J. Hum. Genet. 8:381-384(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 517-1054 (ISOFORMS 1 AND 3).
RC TISSUE=Brain;
RX PubMed=9286858; DOI=10.1046/j.1365-2443.1997.1310329.x;
RA Satoh K., Yanai H., Senda T., Kohu K., Nakamura T., Okumura N.,
RA Matsumine A., Kobayashi S., Toyoshima K., Akiyama T.;
RT "DAP-1, a novel protein that interacts with the guanylate kinase-like
RT domains of hDLG and PSD-95.";
RL Genes Cells 2:415-424(1997).
CC -!- FUNCTION: May play a role in the molecular organization of synapses and
CC neuronal cell signaling. Could be an adapter protein linking ion
CC channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-
CC 95/SAP90 at the plasma membrane.
CC -!- SUBUNIT: Interacts with DLG1 and DLG4/PSD-95. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9P1A6; P46108: CRK; NbExp=2; IntAct=EBI-1753397, EBI-886;
CC Q9P1A6; P62993: GRB2; NbExp=2; IntAct=EBI-1753397, EBI-401755;
CC Q9P1A6; Q6A162: KRT40; NbExp=4; IntAct=EBI-1753397, EBI-10171697;
CC Q9P1A6; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-1753397, EBI-10172511;
CC Q9P1A6; P16333: NCK1; NbExp=4; IntAct=EBI-1753397, EBI-389883;
CC Q9P1A6-3; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-12019838, EBI-11096309;
CC Q9P1A6-3; P54252: ATXN3; NbExp=3; IntAct=EBI-12019838, EBI-946046;
CC Q9P1A6-3; P07339: CTSD; NbExp=3; IntAct=EBI-12019838, EBI-2115097;
CC Q9P1A6-3; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12019838, EBI-3867333;
CC Q9P1A6-3; Q15700: DLG2; NbExp=3; IntAct=EBI-12019838, EBI-80426;
CC Q9P1A6-3; Q92796: DLG3; NbExp=3; IntAct=EBI-12019838, EBI-80440;
CC Q9P1A6-3; P28799: GRN; NbExp=3; IntAct=EBI-12019838, EBI-747754;
CC Q9P1A6-3; O60333-2: KIF1B; NbExp=3; IntAct=EBI-12019838, EBI-10975473;
CC Q9P1A6-3; Q86UL8-2: MAGI2; NbExp=3; IntAct=EBI-12019838, EBI-12081182;
CC Q9P1A6-3; Q8TF42: UBASH3B; NbExp=3; IntAct=EBI-12019838, EBI-1380492;
CC Q9P1A6-3; O76024: WFS1; NbExp=3; IntAct=EBI-12019838, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane
CC protein {ECO:0000250}. Postsynaptic density {ECO:0000250}. Synapse
CC {ECO:0000250}. Note=Postsynaptic density of neuronal cells.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9P1A6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P1A6-2; Sequence=VSP_006012;
CC Name=3;
CC IsoId=Q9P1A6-3; Sequence=VSP_006011;
CC -!- TISSUE SPECIFICITY: Expressed in brain and kidney.
CC -!- SIMILARITY: Belongs to the SAPAP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAW51475.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AF119817; AAF34344.1; -; mRNA.
DR EMBL; AF119818; AAF34345.1; -; mRNA.
DR EMBL; AF009204; AAB71661.1; -; mRNA.
DR EMBL; AC100797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC026950; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC110288; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471181; EAW51474.1; -; Genomic_DNA.
DR EMBL; CH471181; EAW51475.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC141862; AAI41863.1; -; mRNA.
DR EMBL; AB000275; BAA23256.1; -; mRNA.
DR PIR; T03306; T03306.
DR RefSeq; NP_004736.2; NM_004745.4.
DR AlphaFoldDB; Q9P1A6; -.
DR SMR; Q9P1A6; -.
DR BioGRID; 114659; 30.
DR IntAct; Q9P1A6; 25.
DR MINT; Q9P1A6; -.
DR STRING; 9606.ENSP00000400258; -.
DR GlyGen; Q9P1A6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9P1A6; -.
DR PhosphoSitePlus; Q9P1A6; -.
DR BioMuta; DLGAP2; -.
DR DMDM; 160395585; -.
DR MassIVE; Q9P1A6; -.
DR MaxQB; Q9P1A6; -.
DR PaxDb; Q9P1A6; -.
DR PeptideAtlas; Q9P1A6; -.
DR PRIDE; Q9P1A6; -.
DR ProteomicsDB; 83641; -. [Q9P1A6-1]
DR ProteomicsDB; 83642; -. [Q9P1A6-2]
DR ProteomicsDB; 83643; -. [Q9P1A6-3]
DR ABCD; Q9P1A6; 1 sequenced antibody.
DR Antibodypedia; 21955; 89 antibodies from 26 providers.
DR Ensembl; ENST00000421627.7; ENSP00000400258.3; ENSG00000198010.13. [Q9P1A6-1]
DR UCSC; uc003wpl.4; human. [Q9P1A6-1]
DR GeneCards; DLGAP2; -.
DR HGNC; HGNC:2906; DLGAP2.
DR HPA; ENSG00000198010; Tissue enhanced (brain, testis).
DR MIM; 605438; gene.
DR neXtProt; NX_Q9P1A6; -.
DR OpenTargets; ENSG00000198010; -.
DR PharmGKB; PA27362; -.
DR VEuPathDB; HostDB:ENSG00000198010; -.
DR eggNOG; KOG3971; Eukaryota.
DR GeneTree; ENSGT00940000157913; -.
DR InParanoid; Q9P1A6; -.
DR PhylomeDB; Q9P1A6; -.
DR TreeFam; TF321382; -.
DR PathwayCommons; Q9P1A6; -.
DR Reactome; R-HSA-6794361; Neurexins and neuroligins.
DR SignaLink; Q9P1A6; -.
DR SIGNOR; Q9P1A6; -.
DR BioGRID-ORCS; 9228; 10 hits in 1066 CRISPR screens.
DR ChiTaRS; DLGAP2; human.
DR GeneWiki; DLGAP2; -.
DR GenomeRNAi; 9228; -.
DR Pharos; Q9P1A6; Tbio.
DR PRO; PR:Q9P1A6; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9P1A6; protein.
DR Bgee; ENSG00000198010; Expressed in left testis and 89 other tissues.
DR ExpressionAtlas; Q9P1A6; baseline and differential.
DR Genevisible; Q9P1A6; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0098978; C:glutamatergic synapse; IBA:GO_Central.
DR GO; GO:0005883; C:neurofilament; NAS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0014069; C:postsynaptic density; IEA:UniProtKB-SubCell.
DR GO; GO:0099572; C:postsynaptic specialization; IBA:GO_Central.
DR GO; GO:0060090; F:molecular adaptor activity; IBA:GO_Central.
DR GO; GO:0007270; P:neuron-neuron synaptic transmission; NAS:UniProtKB.
DR GO; GO:0098962; P:regulation of postsynaptic neurotransmitter receptor activity; IBA:GO_Central.
DR InterPro; IPR030525; DLGAP2.
DR InterPro; IPR005026; SAPAP.
DR PANTHER; PTHR12353; PTHR12353; 1.
DR PANTHER; PTHR12353:SF3; PTHR12353:SF3; 1.
DR Pfam; PF03359; GKAP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Membrane; Phosphoprotein;
KW Reference proteome; Synapse.
FT CHAIN 1..1054
FT /note="Disks large-associated protein 2"
FT /id="PRO_0000174291"
FT REGION 32..87
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 242..301
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 442..464
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 609..666
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 719..746
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 977..1021
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 242..256
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 622..666
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 977..991
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 998..1021
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 298
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 304
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97837"
FT MOD_RES 386
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97837"
FT MOD_RES 452
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 662
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 665
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 668
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 715
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 738
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 740
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 771
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 806
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT MOD_RES 978
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P97837"
FT MOD_RES 1007
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BJ42"
FT VAR_SEQ 1..79
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10854099,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:9286858"
FT /id="VSP_006011"
FT VAR_SEQ 720..733
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10854099"
FT /id="VSP_006012"
FT VARIANT 419
FT /note="P -> Q (in dbSNP:rs2301963)"
FT /id="VAR_023073"
FT VARIANT 620
FT /note="T -> M (in dbSNP:rs7463888)"
FT /id="VAR_036750"
FT CONFLICT 463
FT /note="P -> Q (in Ref. 3; EAW51474/EAW51475)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1054 AA; 117620 MW; C03A1240B32442AA CRC64;
MGTAQVLPGI LQKHCCILPD RNTESQCTLC GEPEEEEAGD LVQPGISFPG PAEEDLDPQY
SWSPTQHFNE ERYSPAPRSM KGLSGSRTQP PLCSGHTCGL APPEDCEHLH HGPDARPPYL
LSPADSCPGG RHRCSPRSSV HSECVMMPVV LGDHVSSSTF PRMHYSSHYD TRDDCAVAHA
GAKINRIPAN LLDQFEKQLP LHRDGFHTLQ YQRTSAAAEQ RSESPGRIRH LVHSVQKLFT
KSHSLEGSSK SNANGTKADG RADDHHHAHH AKHSKRSKSK ERKPEGKPRP GMSSWWSSDD
NLDSDSTYRT PSVLNRHHLG PVAHCYPDAL QSPFGDLSLK TSKSNNDVKC SACEGLALTP
DAKYLKRSSW STLTVSQAKE AYRKSSLNLD KPLLHQDAKP ALRPCHYLQV PQDEWGGYPT
GGKDEEIPCR RMRSGSYIKA MGDEESGESD SSPKTSPKSA ILPEPLLKSI GQRPLGEHQT
QTYLQAASDV PVGHSLDPAA NYNSPKFRSR NQSYMRAVST LSQASCVSQV SEAEINGQFE
SVCESVFSEV ESQAMDALDL PGCFRTRSHS YLRAIQAGYS QDDECIPMMT PSDITSTIRS
TAAVSYTNYK KTPPPVPPRT TSKPLISVTA QSSTESTQDA YQDSRAQRMS PWPQDSRGLY
NSTDSLDSNK AMNLALETAA AQRHLPESQS SSVRTSDKAI LVSKAEELLK SRCSSIGIQD
SEFPEHQPYP RSDVETATDS DTESRGLREY HSVGVQVEDE KRHGRFKRSN SVTAAVQADL
ELEGFPGHIT TEDKGLQFGS SFQRHSEPST PTQYSAVRTV RTQGLFSYRE DYRTQVDTST
LPPPDPWLEP AIDTVETGRM SPCRRDGSWF LKLLHAETKR MEGWCKEMER EAEENDLSEE
ILGKIRSAVG SAQLLMSQKF QQFYWLCQQN MDPSAMPRPT SQDLAGYWDM LQLSIEDVSM
KFDELQRLRL NDWKMMESPE RKEERKVPPP IPKKPPKGKF PITREKSLDL PDRQRQEARR
RLMAAKRAAS FRQNSASERA DSIEIYIPEA QTRL
