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Gene Report
Basic information | Related studies | Functional annotation | Related other genetic factors | Overlap with SZ and MDD | ADD to My Gene Set | Comment on Gene | View All Comments on Gene |
Approved Symbol | DLG1 |
---|---|
Symbol Alias | SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1 |
Approved Name | discs, large homolog 1 (Drosophila) |
Previous Name | discs, large (Drosophila) homolog 1 |
Name Alias | discs large homolog 1, "presynaptic protein SAP97", "synapse-associated protein 97" |
Location | 3q29 |
Position | chr3:197042560-197299300, -1 |
External Links |
HGNC: 2900 Entrez Gene: 1739 Ensembl: ENSG00000075711 UCSC: uc003fxn.4 |
No. of Studies | 2 (Positive: 1; Negative: 1; trend: 0) |
Overlap with SZ? | YES |
Overlap with MDD? | NO |
Reference | Tested Markers | Statistical Values/Author Comments | Result Category | Comment on Study |
---|---|---|---|---|
Schosser, A.,2011 | SNP: rs338217 Haplotype: rs1134986 - rs338217() |
No significant association was observed. | Negative | Comment on Study |
Noor A., 2014 | Selected stringent CNV related to this gene is validated by qPCR from BD case data. | Positive | Comment on Study |
GO terms by PBA (count: 7)
ID | Name | Type | Evidence[PMID] | No. of Genes in BDgene |
---|---|---|---|---|
GO:0007411 | axon guidance | biological process | TAS | 60 |
GO:0005886 | plasma membrane | cellular component | TAS | 360 |
GO:0005634 | nucleus | cellular component | IDA[17237226] | 283 |
GO:0045211 | postsynaptic membrane | cellular component | IBA | 68 |
GO:0008092 | cytoskeletal protein binding | molecular function | TAS[8825652] | 6 |
GO:0007268 | synaptic transmission | biological process | IBA; TAS | 116 |
GO:0007399 | nervous system development | biological process | IBA | 40 |
GO terms by database search (count: 77)
Gene | Interactor | Interactor in BDgene? | Experiment Type | PMID |
---|---|---|---|---|
DLG1 | AKAP5 | YES | in vitro;in vivo | 10939335 |
DLG1 | GRIK2 | YES | in vivo | 11279111 |
DLG1 | MRPS34 | NO | in vitro;in vivo;yeast 2-hybrid | 12507520 |
DLG1 | ADRB1 | NO | in vitro | 16316992 |
DLG1 | GUCY1A2 | NO | in vitro | 11572861 |
DLG1 | EPB41 | NO | in vitro | 7937897 |
DLG1 | ATP2B2 | NO | in vitro;in vivo;yeast 2-hybrid | 11274188 |
DLG1 | FZD7 | NO | yeast 2-hybrid | 12067714 |
DLG1 | GNG13 | NO | in vivo | 16473877 |
DLG1 | SEMA4C | NO | in vitro;in vivo;yeast 2-hybrid | 11134026 |
DLG1 | CAMK2A | YES | in vitro;in vivo | 12933808 |
DLG1 | DLGAP1 | YES | in vitro;in vivo;yeast 2-hybrid | 11060025 , 9286858 |
DLG1 | DLGAP3 | NO | yeast 2-hybrid | 9115257 |
DLG1 | CASK | NO | in vitro;in vivo;yeast 2-hybrid | 12351654 , 10993877 |
DLG1 | BEGAIN | NO | yeast 2-hybrid | 9756850 |
DLG1 | KCNA2 | NO | yeast 2-hybrid | 7477295 |
DLG1 | ACTA1 | NO | in vivo | 9512503 |
DLG1 | KIF1B | NO | in vitro;in vivo;yeast 2-hybrid | 12097473 |
DLG1 | WAS | NO | in vitro;in vivo | 15699074 |
DLG1 | KCNA1 | NO | yeast 2-hybrid | 7477295 |
DLG1 | KCNA4 | NO | yeast 2-hybrid | 12860415 , 7477295 |
DLG1 | KCNJ4 | NO | in vitro;in vivo | 11181181 |
DLG1 | WNT3A | NO | yeast 2-hybrid | 12067714 |
DLG1 | GDA | YES | in vivo | 10595517 |
DLG1 | CNKSR2 | NO | in vitro | 16637659 |
DLG1 | BCR | YES | in vivo | 16825666 |
DLG1 | MAPK12 | NO | in vitro | 16637659 |
DLG1 | PARK2 | YES | in vitro | 16637659 |
DLG1 | GRIA1 | YES | in vitro;in vivo | 9677374 , 11567040 |
DLG1 | ERBB4 | YES | in vivo | 12175853 |
DLG1 | MYO6 | NO | in vitro;in vivo;yeast 2-hybrid | 12050163 |
DLG1 | SCN5A | NO | in vitro | 16637659 |
DLG1 | ACTN2 | NO | in vivo | 12860415 |
DLG1 | MAP1A | NO | in vivo | 9786987 |
DLG1 | CALM2 | NO | in vitro | 12189141 |
DLG1 | GRIN2B | YES | yeast 2-hybrid | 8601796 |
DLG1 | CACNG2 | YES | in vitro | 16637659 |
DLG1 | PTEN | NO | in vitro;yeast 2-hybrid | 10646847 |
DLG1 | LRRC1 | NO | in vitro;in vivo;yeast 2-hybrid | 11440998 |
DLG1 | MPP2 | NO | in vivo | 12351654 |
DLG1 | TJAP1 | NO | in vitro;in vivo;yeast 2-hybrid | 11602598 |
DLG1 | LCK | NO | in vitro;in vivo | 9341123 |
DLG1 | EZR | NO | in vitro | 11726633 |
DLG1 | KIF13B | YES | in vitro;in vivo | 10859302 |
DLG1 | KCNJ10 | NO | in vitro;in vivo | 9148889 |
DLG1 | KCNA5 | NO | in vivo | 12970345 , 16466689 |
DLG1 | KCNJ6 | NO | in vitro | 10619846 |
DLG1 | PAX6 | NO | in vitro | 16637659 |
DLG1 | GLS2 | NO | in vitro | 16637659 |
DLG1 | STX4 | NO | in vivo | 18793635 |
DLG1 | KCNA3 | NO | yeast 2-hybrid | 7477295 |
DLG1 | DLG2 | YES | in vivo | 12351654 |
DLG1 | DLG3 | YES | in vitro;in vivo | 12351654 |
DLG1 | SCN4A | NO | in vitro | 16637659 |
DLG1 | ADAM17 | NO | in vitro;in vivo;yeast 2-hybrid | 12668732 |
DLG1 | LRP2 | NO | in vitro;yeast 2-hybrid | 12713445 |
DLG1 | TANC1 | NO | in vitro;in vivo | 15673434 |
DLG1 | PBK | NO | in vitro;yeast 2-hybrid | 10779557 |
DLG1 | CTNNA1 | NO | in vitro | 9512503 |
DLG1 | KCNJ12 | NO | in vitro;in vivo | 11181181 , 5024025 , 14960569 |
DLG1 | GPR125 | NO | in vivo | 15021905 |
DLG1 | KCNAB1 | NO | in vivo | 9341123 |
DLG1 | GRIN2A | YES | in vitro;in vivo;yeast 2-hybrid | 10336672 , 8601796 , 12933808 |
DLG1 | ATP2B4 | NO | in vitro | 11274188 |
DLG1 | CRIPT | NO | in vitro | 12070168 |
DLG1 | KCNJ2 | NO | in vitro;in vivo | 11181181 |
DLG1 | FZD4 | NO | yeast 2-hybrid | 12067714 |
DLG1 | DLGAP4 | NO | yeast 2-hybrid | 9115257 |
Literature-origin SNPs (count: 2)
rs_ID | Location | Functional Annotation | No. of Studies (Positive/Negative/Trend) |
---|---|---|---|
rs338217 | chr3:197300056 - 197300056(1) | intron_variant; non_coding_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs1134986 | chr3:197138371 - 197138371(1) | downstream_gene_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant | 1(0/1/0) |
LD-proxies (count: 4)
rs_ID | Literature-origin SNPs with LD | Location | Functional Annotation |
---|---|---|---|
rs12495674 | chr3:197046263 - 197046263(1) | intron_variant; non_coding_transcript_variant | |
rs422203 | chr3:197278817 - 197278817(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs383443 | chr3:197247447 - 197247447(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
rs338186 | chr3:197236741 - 197236741(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
ID | Location | Size | Band | Type | Inheritance |
---|---|---|---|---|---|
CNV_Abdul Noor[2014]_5 | chr3:198394479-198832486 (NCBI Build 36/hg18) | 438000 | 3q29 | duplication | |
CNV_Abdul Noor[2014]_26 | chr3:198394479-198828573 (NCBI Build 36/hg18) | 434000 | 3q29 | duplication |
Region Name | Position | No. of Studies (Positive/Negative/Trend) |
---|---|---|
Chr 3 | chr3:0-198295559 | 2 (0/2/0) |
3q29 | chr3:192600000-198295559 | 2 (1/0/1) |
Overlap with SZ from cross-disorder studies (count: 0)
Overlap with SZ from candidate gene intersection analysis (count: 1)
Region: chr3:197042560..197299300 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
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Last update: March 31, 2016