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Aliases for DLGAP2 Gene

Aliases for DLGAP2 Gene

  • DLG Associated Protein 2 2 3 5
  • ERICH1 Antisense RNA 1 (Non-Protein Coding) 2 3
  • Discs Large Homolog Associated Protein 2 2 3
  • SAP90/PSD-95-Associated Protein 2 3 4
  • PSD-95/SAP90-Binding Protein 2 3 4
  • SAPAP2 3 4
  • DAP2 3 4
  • Discs, Large (Drosophila) Homolog-Associated Protein 2 2
  • Chromosome 8 Open Reading Frame 68 2
  • Discs Large-Associated Protein 2 3
  • Disks Large-Associated Protein 2 3
  • ERICH1 Antisense Gene Protein 1 3
  • Putative DAP-2 Like Protein 3
  • ERICH1 Antisense RNA 1 2
  • ERICH1-AS1 3
  • C8orf68 3
  • DAP-2 4

External Ids for DLGAP2 Gene

Previous HGNC Symbols for DLGAP2 Gene

  • ERICH1-AS1
  • C8orf68

Previous GeneCards Identifiers for DLGAP2 Gene

  • GC08P001260
  • GC08P001555
  • GC08P001436
  • GC08P000927

Summaries for DLGAP2 Gene

Entrez Gene Summary for DLGAP2 Gene

  • The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]

GeneCards Summary for DLGAP2 Gene

DLGAP2 (DLG Associated Protein 2) is a Protein Coding gene. Diseases associated with DLGAP2 include Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. An important paralog of this gene is DLGAP1.

UniProtKB/Swiss-Prot for DLGAP2 Gene

  • 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.

Gene Wiki entry for DLGAP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLGAP2 Gene

Genomics for DLGAP2 Gene

Regulatory Elements for DLGAP2 Gene

Enhancers for DLGAP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G001437 1 FANTOM5 ENCODE 11.4 +701.1 701139 1.6 SMARCE1 PKNOX1 MXI1 RFX1 RNF2 TAL1 MNT BMI1 ELF1 EP300 DLGAP2 LOC105377775 DLGAP2-AS1
GH08G001372 0.7 ENCODE 10.7 +635.7 635692 0.8 PKNOX1 KLF1 L3MBTL2 SUZ12 NRF1 BHLHE40 MNT ZFHX2 TARDBP HMGN3 DLGAP2 LOC105377776 ENSG00000282160
GH08G001478 0.6 ENCODE 12.2 +741.8 741780 2.3 NFIC ARID3A POLR2A ZBED1 JUNB SPI1 EZH2 DLGAP2 LOC105377775 DLGAP2-AS1
GH08G001233 0.4 ENCODE 15.7 +495.8 495840 0.2 SMARCA4 DLGAP2 ENSG00000254160 GC08M001176
GH08G001374 0.5 ENCODE 10.7 +636.9 636884 0.2 CEBPA CEBPB CEBPG MNT NR2F6 DLGAP2 ENSG00000282160 ENSG00000281961
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLGAP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLGAP2 Gene

Chromosome:
8
Start:
737,596 bp from pter
End:
1,708,476 bp from pter
Size:
970,881 bases
Orientation:
Plus strand

Genomic View for DLGAP2 Gene

Genes around DLGAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLGAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLGAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for DLGAP2 Gene

  • Protein details for DLGAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P1A6-DLGP2_HUMAN
    Recommended name:
    Disks large-associated protein 2
    Protein Accession:
    Q9P1A6
    Secondary Accessions:
    • A1QCF8
    • A1QCF9
    • A5D8Y2
    • O14488
    • O14664
    • Q9P1A7

    Protein attributes for DLGAP2 Gene

    Size:
    1054 amino acids
    Molecular mass:
    117620 Da
    Quaternary structure:
    • Interacts with DLG1 and DLG4/PSD-95.
    SequenceCaution:
    • Sequence=EAW51475.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for DLGAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLGAP2 Gene

Post-translational modifications for DLGAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLGAP2 Gene

No data available for DME Specific Peptides for DLGAP2 Gene

Domains & Families for DLGAP2 Gene

Protein Domains for DLGAP2 Gene

Suggested Antigen Peptide Sequences for DLGAP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P1A6

UniProtKB/Swiss-Prot:

DLGP2_HUMAN :
  • Belongs to the SAPAP family.
Family:
  • Belongs to the SAPAP family.
genes like me logo Genes that share domains with DLGAP2: view

No data available for Gene Families for DLGAP2 Gene

Function for DLGAP2 Gene

Molecular function for DLGAP2 Gene

GENATLAS Biochemistry:
Drosophila discslarge homolog-associated protein 2,binding the guanylate kinase-like domains of DLG2,DLG4,localized at postsynaptic density (PSD) in neuronal cells
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for DLGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
genes like me logo Genes that share ontologies with DLGAP2: view
genes like me logo Genes that share phenotypes with DLGAP2: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DLGAP2 Gene

Localization for DLGAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLGAP2 Gene

Cell membrane; Peripheral membrane protein. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Note=Postsynaptic density of neuronal cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLGAP2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for DLGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005883 neurofilament NAS 10759891
GO:0005886 plasma membrane TAS --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with DLGAP2: view

Pathways & Interactions for DLGAP2 Gene

genes like me logo Genes that share pathways with DLGAP2: view

Pathways by source for DLGAP2 Gene

Gene Ontology (GO) - Biological Process for DLGAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007270 neuron-neuron synaptic transmission NAS,IEA 9694864
GO:0023052 signaling IEA --
genes like me logo Genes that share ontologies with DLGAP2: view

No data available for SIGNOR curated interactions for DLGAP2 Gene

Drugs & Compounds for DLGAP2 Gene

No Compound Related Data Available

Transcripts for DLGAP2 Gene

Unigene Clusters for DLGAP2 Gene

Discs, large (Drosophila) homolog-associated protein 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLGAP2 Gene

No ASD Table

Relevant External Links for DLGAP2 Gene

GeneLoc Exon Structure for
DLGAP2
ECgene alternative splicing isoforms for
DLGAP2

Expression for DLGAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLGAP2 Gene

mRNA differential expression in normal tissues according to GTEx for DLGAP2 Gene

This gene is overexpressed in Brain - Cortex (x7.6), Brain - Frontal Cortex (BA9) (x7.6), Brain - Anterior cingulate cortex (BA24) (x6.4), Brain - Nucleus accumbens (basal ganglia) (x4.6), Brain - Putamen (basal ganglia) (x4.3), and Brain - Caudate (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for DLGAP2 Gene

This gene is overexpressed in Frontal cortex (61.4) and Retina (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DLGAP2 Gene



Protein tissue co-expression partners for DLGAP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DLGAP2 Gene:

DLGAP2

SOURCE GeneReport for Unigene cluster for DLGAP2 Gene:

Hs.113287

mRNA Expression by UniProt/SwissProt for DLGAP2 Gene:

Q9P1A6-DLGP2_HUMAN
Tissue specificity: Expressed in brain and kidney.

Evidence on tissue expression from TISSUES for DLGAP2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with DLGAP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLGAP2 Gene

Orthologs for DLGAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLGAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLGAP2 34 35
  • 99.2 (n)
oppossum
(Monodelphis domestica)
Mammalia DLGAP2 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLGAP2 34 35
  • 85.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DLGAP2 35
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC100848239 34
  • 84.26 (n)
mouse
(Mus musculus)
Mammalia Dlgap2 34 16 35
  • 82.52 (n)
rat
(Rattus norvegicus)
Mammalia Dlgap2 34
  • 82.45 (n)
chicken
(Gallus gallus)
Aves DLGAP2 34 35
  • 78.38 (n)
lizard
(Anolis carolinensis)
Reptilia DLGAP2 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlgap2 34
  • 74.13 (n)
zebrafish
(Danio rerio)
Actinopterygii dlgap2 34
  • 71.82 (n)
DLGAP2 (2 of 3) 35
  • 71 (a)
OneToMany
dlgap2a 35
  • 65 (a)
OneToMany
dlgap2b 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta vlc 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2669 35
  • 25 (a)
OneToMany
Species where no ortholog for DLGAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DLGAP2 Gene

ENSEMBL:
Gene Tree for DLGAP2 (if available)
TreeFam:
Gene Tree for DLGAP2 (if available)

Paralogs for DLGAP2 Gene

Paralogs for DLGAP2 Gene

(4) SIMAP similar genes for DLGAP2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DLGAP2: view

Variants for DLGAP2 Gene

Sequence variations from dbSNP and Humsavar for DLGAP2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000001731 -- 1,161,546(+) ACACA(C/G)TCACA intron-variant
rs1000003675 -- 910,576(+) GCACA(C/T)TTATG intron-variant
rs1000005061 -- 1,620,883(+) GGTGT(C/G)CCTCA intron-variant
rs1000005934 -- 1,648,274(+) TTTTT(C/G)TGTAG intron-variant
rs1000005990 -- 740,480(+) ACATG(C/G)CCTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DLGAP2 Gene

Variant ID Type Subtype PubMed ID
dgv1156n67 CNV gain 20364138
dgv1172e201 CNV deletion 23290073
dgv1173e201 CNV deletion 23290073
dgv1174e201 CNV deletion 23290073
dgv1175e201 CNV deletion 23290073
dgv1176e201 CNV deletion 23290073
dgv1177e201 CNV deletion 23290073
dgv1178e201 CNV deletion 23290073
dgv11820n54 CNV gain 21841781
dgv11821n54 CNV loss 21841781
dgv2014e212 CNV loss 25503493
dgv3732n106 CNV deletion 24896259
dgv3733n106 CNV deletion 24896259
dgv4035e59 CNV duplication 20981092
dgv6795n100 CNV gain 25217958
dgv6803n100 CNV gain 25217958
dgv6804n100 CNV gain 25217958
dgv6805n100 CNV gain+loss 25217958
dgv6806n100 CNV gain 25217958
esv1001696 CNV deletion 20482838
esv1005224 CNV deletion 20482838
esv1008531 CNV loss 20482838
esv1009105 CNV deletion 20482838
esv1009117 CNV deletion 20482838
esv1009882 CNV loss 20482838
esv1046880 CNV insertion 17803354
esv1089194 CNV deletion 17803354
esv1141220 CNV insertion 17803354
esv1148786 CNV deletion 17803354
esv1151664 CNV deletion 17803354
esv1187575 CNV insertion 17803354
esv1198504 CNV insertion 17803354
esv1211727 CNV insertion 17803354
esv1240582 CNV deletion 17803354
esv1248362 CNV deletion 17803354
esv1249871 CNV insertion 17803354
esv1327755 CNV deletion 17803354
esv1381051 CNV deletion 17803354
esv1402808 CNV deletion 17803354
esv1406551 CNV deletion 17803354
esv1415462 CNV deletion 17803354
esv1428972 CNV deletion 17803354
esv1449818 CNV insertion 17803354
esv1462330 CNV insertion 17803354
esv1567761 CNV deletion 17803354
esv1663912 CNV deletion 17803354
esv1693570 CNV deletion 17803354
esv1709166 CNV deletion 17803354
esv1709367 CNV insertion 17803354
esv1713981 CNV insertion 17803354
esv1732087 CNV deletion 17803354
esv1784433 CNV deletion 17803354
esv1790430 CNV insertion 17803354
esv2011197 CNV deletion 18987734
esv2109152 CNV deletion 18987734
esv21666 CNV loss 19812545
esv2168830 CNV deletion 18987734
esv21715 CNV gain 19812545
esv2174611 CNV deletion 18987734
esv21755 CNV loss 19812545
esv21799 CNV gain 19812545
esv2196734 CNV deletion 18987734
esv22228 CNV loss 19812545
esv2238262 CNV deletion 18987734
esv2258686 CNV deletion 18987734
esv2340886 CNV deletion 18987734
esv23463 CNV loss 19812545
esv2410209 CNV deletion 18987734
esv24245 CNV gain 19812545
esv2447133 CNV deletion 19546169
esv2487014 CNV deletion 19546169
esv2509138 CNV deletion 19546169
esv2527425 CNV insertion 19546169
esv2529290 CNV deletion 19546169
esv2531481 CNV insertion 19546169
esv2548579 CNV deletion 19546169
esv2549276 CNV deletion 19546169
esv26265 CNV gain 19812545
esv2640303 CNV deletion 19546169
esv2658434 CNV deletion 23128226
esv2658558 CNV deletion 23128226
esv2659022 CNV deletion 23128226
esv2660259 CNV deletion 23128226
esv2660482 CNV deletion 23128226
esv2662501 CNV deletion 23128226
esv2666302 CNV deletion 23128226
esv2666695 CNV deletion 23128226
esv2667804 CNV deletion 23128226
esv2669614 CNV deletion 23128226
esv2673050 CNV deletion 23128226
esv26752 CNV loss 19812545
esv2677016 CNV deletion 23128226
esv2736080 CNV deletion 23290073
esv2736081 CNV deletion 23290073
esv2736082 CNV deletion 23290073
esv2736084 CNV deletion 23290073
esv2736085 CNV deletion 23290073
esv2736086 CNV deletion 23290073
esv2736087 CNV deletion 23290073
esv2736088 CNV deletion 23290073
esv2736089 CNV deletion 23290073
esv2736092 CNV deletion 23290073
esv2736093 CNV deletion 23290073
esv2736095 CNV deletion 23290073
esv2736096 CNV deletion 23290073
esv2736097 CNV deletion 23290073
esv2736098 CNV deletion 23290073
esv2736100 CNV deletion 23290073
esv2736103 CNV deletion 23290073
esv2736104 CNV deletion 23290073
esv2736109 CNV deletion 23290073
esv2736110 CNV deletion 23290073
esv2736111 CNV deletion 23290073
esv2736113 CNV deletion 23290073
esv2736115 CNV deletion 23290073
esv2736117 CNV deletion 23290073
esv2736119 CNV deletion 23290073
esv2736121 CNV deletion 23290073
esv2736122 CNV deletion 23290073
esv2736123 CNV deletion 23290073
esv2736125 CNV deletion 23290073
esv2736128 CNV deletion 23290073
esv2736129 CNV deletion 23290073
esv2736130 CNV deletion 23290073
esv2736131 CNV deletion 23290073
esv2736132 CNV deletion 23290073
esv2736133 CNV deletion 23290073
esv2736134 CNV deletion 23290073
esv2736135 CNV deletion 23290073
esv2736136 CNV deletion 23290073
esv2736137 CNV deletion 23290073
esv2736142 CNV deletion 23290073
esv2736143 CNV deletion 23290073
esv2736144 CNV deletion 23290073
esv2736145 CNV deletion 23290073
esv2736146 CNV deletion 23290073
esv2736147 CNV deletion 23290073
esv2736148 CNV deletion 23290073
esv2736149 CNV deletion 23290073
esv2736150 CNV deletion 23290073
esv2736151 CNV deletion 23290073
esv2736153 CNV deletion 23290073
esv2736154 CNV deletion 23290073
esv2736155 CNV deletion 23290073
esv2736156 CNV deletion 23290073
esv2736157 CNV deletion 23290073
esv2736158 CNV deletion 23290073
esv2736159 CNV deletion 23290073
esv2736160 CNV deletion 23290073
esv2736268 CNV deletion 23290073
esv2736269 CNV deletion 23290073
esv2736270 CNV deletion 23290073
esv2736271 CNV deletion 23290073
esv2736272 CNV deletion 23290073
esv2736273 CNV deletion 23290073
esv2736275 CNV deletion 23290073
esv2736276 CNV deletion 23290073
esv2736277 CNV deletion 23290073
esv2736278 CNV deletion 23290073
esv2736279 CNV deletion 23290073
esv2736280 CNV deletion 23290073
esv2736281 CNV deletion 23290073
esv2736282 CNV deletion 23290073
esv2736283 CNV deletion 23290073
esv2736284 CNV deletion 23290073
esv2736286 CNV deletion 23290073
esv2736287 CNV deletion 23290073
esv2736288 CNV deletion 23290073
esv2736289 CNV deletion 23290073
esv2736290 CNV deletion 23290073
esv2736291 CNV deletion 23290073
esv2736292 CNV deletion 23290073
esv2736293 CNV deletion 23290073
esv2736294 CNV deletion 23290073
esv2736295 CNV deletion 23290073
esv2736297 CNV deletion 23290073
esv2736298 CNV deletion 23290073
esv2736299 CNV deletion 23290073
esv2736300 CNV deletion 23290073
esv2736301 CNV deletion 23290073
esv2736302 CNV deletion 23290073
esv2736303 CNV deletion 23290073
esv2736304 CNV deletion 23290073
esv2736305 CNV deletion 23290073
esv2736306 CNV deletion 23290073
esv2736308 CNV deletion 23290073
esv27484 CNV gain+loss 19812545
esv2761394 CNV gain 21179565
esv28626 CNV loss 19812545
esv29916 CNV gain+loss 19812545
esv3274162 CNV deletion 24192839
esv3305829 CNV mobile element insertion 20981092
esv3335850 CNV duplication 20981092
esv3343924 CNV duplication 20981092
esv3357859 CNV insertion 20981092
esv3386251 CNV duplication 20981092
esv3413287 CNV duplication 20981092
esv3542856 CNV deletion 23714750
esv3542857 CNV deletion 23714750
esv3542859 CNV deletion 23714750
esv3542860 CNV deletion 23714750
esv3542861 CNV deletion 23714750
esv3542862 CNV deletion 23714750
esv3542863 CNV deletion 23714750
esv3542867 CNV deletion 23714750
esv3542886 CNV deletion 23714750
esv3572379 CNV loss 25503493
esv3572380 CNV loss 25503493
esv3572384 CNV loss 25503493
esv3572385 CNV loss 25503493
esv3572386 CNV loss 25503493
esv3572388 CNV loss 25503493
esv3572389 CNV loss 25503493
esv3576504 CNV gain 25503493
esv3576504 CNV gain 25503493
esv3615771 CNV gain 21293372
esv3615792 CNV gain 21293372
esv3615798 CNV gain 21293372
esv3615799 CNV loss 21293372
esv3615800 CNV gain 21293372
esv3615801 CNV gain 21293372
esv3615802 CNV loss 21293372
esv3615804 CNV gain 21293372
esv3615806 CNV loss 21293372
esv3615807 CNV gain 21293372
esv3615808 CNV gain 21293372
esv3615809 CNV gain 21293372
esv3615810 CNV gain 21293372
esv3615811 CNV loss 21293372
esv3615813 CNV loss 21293372
esv3615814 CNV gain 21293372
esv3615815 CNV loss 21293372
esv3615837 CNV loss 21293372
esv3615838 CNV gain 21293372
esv3615839 CNV loss 21293372
esv3615840 CNV loss 21293372
esv3615841 CNV loss 21293372
esv3615842 CNV gain 21293372
esv3980 CNV loss 18987735
esv987836 CNV deletion 20482838
esv988773 CNV deletion 20482838
esv992909 CNV deletion 20482838
esv993868 CNV deletion 20482838
esv996205 CNV deletion 20482838
esv998848 CNV insertion 20482838
nsv1015350 CNV loss 25217958
nsv1019956 CNV gain 25217958
nsv1024325 CNV gain 25217958
nsv1024325 CNV gain 25217958
nsv1024932 CNV gain 25217958
nsv1026034 CNV gain+loss 25217958
nsv1029332 CNV loss 25217958
nsv1031078 CNV loss 25217958
nsv1031673 CNV loss 25217958
nsv1034963 CNV loss 25217958
nsv1075085 CNV deletion 25765185
nsv1075088 CNV deletion 25765185
nsv1075503 CNV deletion 25765185
nsv1075504 CNV deletion 25765185
nsv1075505 CNV deletion 25765185
nsv1076030 CNV deletion 25765185
nsv1076031 CNV deletion 25765185
nsv1076037 CNV deletion 25765185
nsv1076989 CNV deletion 25765185
nsv1076990 CNV deletion 25765185
nsv1076991 CNV deletion 25765185
nsv1076993 CNV deletion 25765185
nsv1076996 CNV deletion 25765185
nsv1076997 CNV deletion 25765185
nsv1109935 CNV deletion 24896259
nsv1109936 CNV deletion 24896259
nsv1109937 CNV deletion 24896259
nsv1112949 CNV deletion 24896259
nsv1115047 CNV deletion 24896259
nsv1119156 CNV deletion 24896259
nsv1119157 CNV deletion 24896259
nsv1119158 CNV deletion 24896259
nsv1124310 CNV deletion 24896259
nsv1128389 CNV deletion 24896259
nsv1128390 CNV deletion 24896259
nsv1132123 CNV deletion 24896259
nsv1133679 CNV deletion 24896259
nsv1133680 CNV deletion 24896259
nsv1135995 CNV deletion 24896259
nsv1137330 CNV deletion 24896259
nsv1139919 CNV duplication 24896259
nsv1142680 CNV deletion 24896259
nsv1142681 CNV deletion 24896259
nsv1143203 CNV tandem duplication 24896259
nsv1143357 CNV deletion 24896259
nsv1145177 CNV deletion 24896259
nsv1146343 CNV deletion 26484159
nsv1146572 CNV duplication 26484159
nsv1146904 CNV deletion 26484159
nsv1147669 CNV deletion 26484159
nsv1148410 CNV deletion 26484159
nsv1151848 CNV deletion 26484159
nsv1153354 CNV deletion 26484159
nsv1153771 CNV deletion 26484159
nsv1153992 CNV deletion 26484159
nsv396012 CNV deletion 16902084
nsv396680 CNV deletion 16902084
nsv396847 CNV deletion 16902084
nsv397705 CNV deletion 16902084
nsv435873 CNV deletion 17901297
nsv465269 CNV loss 19166990
nsv465270 CNV loss 19166990
nsv465271 CNV loss 19166990
nsv469881 CNV loss 16826518
nsv474067 CNV novel sequence insertion 20440878
nsv482921 CNV gain 15286789
nsv499199 CNV loss 21111241
nsv499403 CNV gain 21111241
nsv509240 CNV insertion 20534489
nsv509241 CNV insertion 20534489
nsv512016 CNV loss 21212237
nsv512017 CNV loss 21212237
nsv512018 CNV loss 21212237
nsv512019 CNV loss 21212237
nsv517779 CNV loss 19592680
nsv520448 CNV gain+loss 19592680
nsv521496 CNV gain 19592680
nsv6038 CNV insertion 18451855
nsv6039 CNV insertion 18451855
nsv6040 CNV deletion 18451855
nsv6041 CNV insertion 18451855
nsv6042 CNV deletion 18451855
nsv6045 CNV insertion 18451855
nsv609452 CNV loss 21841781
nsv609472 CNV gain 21841781
nsv609489 CNV loss 21841781
nsv609490 CNV loss 21841781
nsv609491 CNV loss 21841781
nsv609492 CNV loss 21841781
nsv609493 CNV loss 21841781
nsv609494 CNV loss 21841781
nsv609495 CNV loss 21841781
nsv609496 CNV loss 21841781
nsv609497 CNV loss 21841781
nsv609498 CNV loss 21841781
nsv609509 CNV gain 21841781
nsv609520 CNV loss 21841781
nsv820632 CNV duplication 20802225
nsv820639 CNV deletion 20802225
nsv821588 CNV deletion 20802225
nsv824447 CNV gain 20364138
nsv950273 CNV deletion 24416366
nsv950274 CNV deletion 24416366
nsv951692 CNV deletion 24416366
nsv951693 CNV deletion 24416366
nsv951694 CNV deletion 24416366
nsv951695 CNV deletion 24416366
nsv951696 CNV deletion 24416366

Variation tolerance for DLGAP2 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLGAP2 Gene

Human Gene Mutation Database (HGMD)
DLGAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLGAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLGAP2 Gene

Disorders for DLGAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DLGAP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
  • ceroid lipofuscinosis, neuronal, 8
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DLGAP2

Genetic Association Database (GAD)
DLGAP2
Human Genome Epidemiology (HuGE) Navigator
DLGAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLGAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLGAP2
genes like me logo Genes that share disorders with DLGAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLGAP2 Gene

Publications for DLGAP2 Gene

  1. Positional cloning and characterization of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation. (PMID: 10854099) Ranta S. … Lehesjoki A.-E. (Eur. J. Hum. Genet. 2000) 2 3 4 64
  2. DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95. (PMID: 9286858) Satoh K. … Akiyama T. (Genes Cells 1997) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Functional impact of global rare copy number variation in autism spectrum disorders. (PMID: 20531469) Pinto D. … Betancur C. (Nature 2010) 3 46 64

Products for DLGAP2 Gene

Sources for DLGAP2 Gene

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