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Protein

Disks large-associated protein 2

Gene

DLGAP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

GO - Biological processi

  • neuron-neuron synaptic transmission Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Disks large-associated protein 2
Short name:
DAP-2
Alternative name(s):
PSD-95/SAP90-binding protein 2
SAP90/PSD-95-associated protein 2
Short name:
SAPAP2
Gene namesi
Name:DLGAP2
Synonyms:DAP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:2906. DLGAP2.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • neurofilament Source: UniProtKB
  • postsynaptic density Source: UniProtKB-SubCell
  • postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27362.

Polymorphism and mutation databases

DMDMi160395585.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10541054Disks large-associated protein 2PRO_0000174291Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei298 – 2981PhosphoserineBy similarity
Modified residuei304 – 3041PhosphoserineBy similarity
Modified residuei386 – 3861PhosphoserineBy similarity
Modified residuei452 – 4521PhosphoserineBy similarity
Modified residuei662 – 6621PhosphoserineBy similarity
Modified residuei665 – 6651PhosphoserineBy similarity
Modified residuei668 – 6681PhosphoserineBy similarity
Modified residuei715 – 7151PhosphoserineBy similarity
Modified residuei738 – 7381PhosphothreonineBy similarity
Modified residuei740 – 7401PhosphoserineBy similarity
Modified residuei771 – 7711PhosphoserineBy similarity
Modified residuei806 – 8061PhosphoserineBy similarity
Modified residuei978 – 9781PhosphoserineBy similarity
Modified residuei1007 – 10071PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9P1A6.
PaxDbiQ9P1A6.
PeptideAtlasiQ9P1A6.
PRIDEiQ9P1A6.

PTM databases

iPTMnetiQ9P1A6.
PhosphoSiteiQ9P1A6.

Expressioni

Tissue specificityi

Expressed in brain and kidney.

Gene expression databases

BgeeiQ9P1A6.
CleanExiHS_DLGAP2.
ExpressionAtlasiQ9P1A6. baseline and differential.
GenevisibleiQ9P1A6. HS.

Organism-specific databases

HPAiHPA030320.

Interactioni

Subunit structurei

Interacts with DLG1 and DLG4/PSD-95.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
GRB2P629932EBI-1753397,EBI-401755
KRT40Q6A1623EBI-1753397,EBI-10171697
KRTAP4-2Q9BYR53EBI-1753397,EBI-10172511
NCK1P163334EBI-1753397,EBI-389883

Protein-protein interaction databases

BioGridi114659. 7 interactions.
IntActiQ9P1A6. 9 interactions.
MINTiMINT-2820358.
STRINGi9606.ENSP00000400258.

Structurei

3D structure databases

ProteinModelPortaliQ9P1A6.
SMRiQ9P1A6. Positions 866-974.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SAPAP family.Curated

Phylogenomic databases

eggNOGiKOG3971. Eukaryota.
ENOG4111JKV. LUCA.
GeneTreeiENSGT00550000074473.
HOGENOMiHOG000015346.
HOVERGENiHBG018957.
InParanoidiQ9P1A6.
OrthoDBiEOG75QR37.
PhylomeDBiQ9P1A6.
TreeFamiTF321382.

Family and domain databases

InterProiIPR030525. DLGAP2.
IPR005026. SAPAP.
[Graphical view]
PANTHERiPTHR12353:SF3. PTHR12353:SF3. 1 hit.
PfamiPF03359. GKAP. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P1A6-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGTAQVLPGI LQKHCCILPD RNTESQCTLC GEPEEEEAGD LVQPGISFPG
60 70 80 90 100
PAEEDLDPQY SWSPTQHFNE ERYSPAPRSM KGLSGSRTQP PLCSGHTCGL
110 120 130 140 150
APPEDCEHLH HGPDARPPYL LSPADSCPGG RHRCSPRSSV HSECVMMPVV
160 170 180 190 200
LGDHVSSSTF PRMHYSSHYD TRDDCAVAHA GAKINRIPAN LLDQFEKQLP
210 220 230 240 250
LHRDGFHTLQ YQRTSAAAEQ RSESPGRIRH LVHSVQKLFT KSHSLEGSSK
260 270 280 290 300
SNANGTKADG RADDHHHAHH AKHSKRSKSK ERKPEGKPRP GMSSWWSSDD
310 320 330 340 350
NLDSDSTYRT PSVLNRHHLG PVAHCYPDAL QSPFGDLSLK TSKSNNDVKC
360 370 380 390 400
SACEGLALTP DAKYLKRSSW STLTVSQAKE AYRKSSLNLD KPLLHQDAKP
410 420 430 440 450
ALRPCHYLQV PQDEWGGYPT GGKDEEIPCR RMRSGSYIKA MGDEESGESD
460 470 480 490 500
SSPKTSPKSA ILPEPLLKSI GQRPLGEHQT QTYLQAASDV PVGHSLDPAA
510 520 530 540 550
NYNSPKFRSR NQSYMRAVST LSQASCVSQV SEAEINGQFE SVCESVFSEV
560 570 580 590 600
ESQAMDALDL PGCFRTRSHS YLRAIQAGYS QDDECIPMMT PSDITSTIRS
610 620 630 640 650
TAAVSYTNYK KTPPPVPPRT TSKPLISVTA QSSTESTQDA YQDSRAQRMS
660 670 680 690 700
PWPQDSRGLY NSTDSLDSNK AMNLALETAA AQRHLPESQS SSVRTSDKAI
710 720 730 740 750
LVSKAEELLK SRCSSIGIQD SEFPEHQPYP RSDVETATDS DTESRGLREY
760 770 780 790 800
HSVGVQVEDE KRHGRFKRSN SVTAAVQADL ELEGFPGHIT TEDKGLQFGS
810 820 830 840 850
SFQRHSEPST PTQYSAVRTV RTQGLFSYRE DYRTQVDTST LPPPDPWLEP
860 870 880 890 900
AIDTVETGRM SPCRRDGSWF LKLLHAETKR MEGWCKEMER EAEENDLSEE
910 920 930 940 950
ILGKIRSAVG SAQLLMSQKF QQFYWLCQQN MDPSAMPRPT SQDLAGYWDM
960 970 980 990 1000
LQLSIEDVSM KFDELQRLRL NDWKMMESPE RKEERKVPPP IPKKPPKGKF
1010 1020 1030 1040 1050
PITREKSLDL PDRQRQEARR RLMAAKRAAS FRQNSASERA DSIEIYIPEA

QTRL
Length:1,054
Mass (Da):117,620
Last modified:October 23, 2007 - v4
Checksum:iC03A1240B32442AA
GO
Isoform 2 (identifier: Q9P1A6-2) [UniParc]FASTAAdd to basket

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

Show »
Length:1,040
Mass (Da):115,934
Checksum:iB7D05C8A6A3FBCEE
GO
Isoform 3 (identifier: Q9P1A6-3) [UniParc]FASTAAdd to basket

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

Show »
Length:975
Mass (Da):108,908
Checksum:i1E65227B3E3FA7DC
GO

Sequence cautioni

The sequence EAW51475.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti463 – 4631P → Q in EAW51474 (Ref. 3) Curated
Sequence conflicti463 – 4631P → Q in EAW51475 (Ref. 3) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti419 – 4191P → Q.
Corresponds to variant rs2301963 [ dbSNP | Ensembl ].
VAR_023073
Natural varianti620 – 6201T → M.
Corresponds to variant rs7463888 [ dbSNP | Ensembl ].
VAR_036750

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7979Missing in isoform 3. 3 PublicationsVSP_006011Add
BLAST
Alternative sequencei720 – 73314Missing in isoform 2. 1 PublicationVSP_006012Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS47760.1. [Q9P1A6-3]
PIRiT03306.
RefSeqiNP_001264090.1. NM_001277161.1.
NP_004736.2. NM_004745.4. [Q9P1A6-3]
XP_011533064.1. XM_011534762.1. [Q9P1A6-3]
UniGeneiHs.113287.

Genome annotation databases

EnsembliENST00000421627; ENSP00000400258; ENSG00000198010. [Q9P1A6-3]
GeneIDi9228.
KEGGihsa:9228.
UCSCiuc003wpl.4. human. [Q9P1A6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS47760.1. [Q9P1A6-3]
PIRiT03306.
RefSeqiNP_001264090.1. NM_001277161.1.
NP_004736.2. NM_004745.4. [Q9P1A6-3]
XP_011533064.1. XM_011534762.1. [Q9P1A6-3]
UniGeneiHs.113287.

3D structure databases

ProteinModelPortaliQ9P1A6.
SMRiQ9P1A6. Positions 866-974.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114659. 7 interactions.
IntActiQ9P1A6. 9 interactions.
MINTiMINT-2820358.
STRINGi9606.ENSP00000400258.

PTM databases

iPTMnetiQ9P1A6.
PhosphoSiteiQ9P1A6.

Polymorphism and mutation databases

DMDMi160395585.

Proteomic databases

MaxQBiQ9P1A6.
PaxDbiQ9P1A6.
PeptideAtlasiQ9P1A6.
PRIDEiQ9P1A6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000421627; ENSP00000400258; ENSG00000198010. [Q9P1A6-3]
GeneIDi9228.
KEGGihsa:9228.
UCSCiuc003wpl.4. human. [Q9P1A6-1]

Organism-specific databases

CTDi9228.
GeneCardsiDLGAP2.
H-InvDBHIX0021309.
HIX0034229.
HGNCiHGNC:2906. DLGAP2.
HPAiHPA030320.
MIMi605438. gene.
neXtProtiNX_Q9P1A6.
PharmGKBiPA27362.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3971. Eukaryota.
ENOG4111JKV. LUCA.
GeneTreeiENSGT00550000074473.
HOGENOMiHOG000015346.
HOVERGENiHBG018957.
InParanoidiQ9P1A6.
OrthoDBiEOG75QR37.
PhylomeDBiQ9P1A6.
TreeFamiTF321382.

Miscellaneous databases

ChiTaRSiDLGAP2. human.
GeneWikiiDLGAP2.
GenomeRNAii9228.
PROiQ9P1A6.
SOURCEiSearch...

Gene expression databases

BgeeiQ9P1A6.
CleanExiHS_DLGAP2.
ExpressionAtlasiQ9P1A6. baseline and differential.
GenevisibleiQ9P1A6. HS.

Family and domain databases

InterProiIPR030525. DLGAP2.
IPR005026. SAPAP.
[Graphical view]
PANTHERiPTHR12353:SF3. PTHR12353:SF3. 1 hit.
PfamiPF03359. GKAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 517-1054 (ISOFORMS 1 AND 3).
    Tissue: Brain.

Entry informationi

Entry nameiDLGP2_HUMAN
AccessioniPrimary (citable) accession number: Q9P1A6
Secondary accession number(s): A1QCF8
, A1QCF9, A5D8Y2, O14488, O14664, Q9P1A7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: October 23, 2007
Last modified: July 6, 2016
This is version 120 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.