Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | DLGAP2 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20531469 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | DLGAP2 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20531469 | |
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Three isoforms of synaptic scaffolding molecule and their characterization. Multimerization between the isoforms and their interaction with N-methyl-D-aspartate receptors and SAP90/PSD-95-associated protein. | Hirao K, etal., J Biol Chem 2000 Jan 28;275(4):2966-72. |
3. | Differential expression of isoforms of PSD-95 binding protein (GKAP/SAPAP1) during rat brain development. | Kawashima N, etal., FEBS Lett 1997 Dec 1;418(3):301-4. |
4. | SNX26, a GTPase-activating protein for Cdc42, interacts with PSD-95 protein and is involved in activity-dependent dendritic spine formation in mature neurons. | Kim Y, etal., J Biol Chem. 2013 Oct 11;288(41):29453-66. doi: 10.1074/jbc.M113.468801. Epub 2013 Sep 3. |
5. | Sharpin, a novel postsynaptic density protein that directly interacts with the shank family of proteins. | Lim S, etal., Mol Cell Neurosci 2001 Feb;17(2):385-97. |
6. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
8. | CRIPT, a novel postsynaptic protein that binds to the third PDZ domain of PSD-95/SAP90. | Niethammer M, etal., Neuron 1998 Apr;20(4):693-707. |
9. | GOA pipeline | RGD automated data pipeline |
10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
12. | DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95. | Satoh K, etal., Genes Cells. 1997 Jun;2(6):415-24. |
13. | SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density. | Takeuchi M, etal., J Biol Chem 1997 May 2;272(18):11943-51. |
14. | MAGUIN, a novel neuronal membrane-associated guanylate kinase-interacting protein. | Yao I, etal., J Biol Chem 1999 Apr 23;274(17):11889-96. |
15. | Eye opening induces a rapid dendritic localization of PSD-95 in central visual neurons. | Yoshii A, etal., Proc Natl Acad Sci U S A 2003 Feb 4;100(3):1334-9. |
PMID:7569905 | PMID:9786987 | PMID:12675619 | PMID:16332687 | PMID:16598705 | PMID:16914526 | PMID:16990791 | PMID:19793403 | PMID:21865455 | PMID:22871113 | PMID:24585759 | PMID:25071926 |
PMID:29476059 | PMID:34818135 |
Dlgap2 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DLGAP2 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dlgap2 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dlgap2 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DLGAP2 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DLGAP2 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dlgap2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DLGAP2 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DLGAP2 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dlgap2 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Dlgap2
4917 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
D16Rat48 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D16Rat15 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D16Got89 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D16Got84 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
32.MMHAP64FRC11.seq |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH144459 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RH138324 |
|
circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | appendage | |
High | |||||||||||
Medium | 21 | ||||||||||
Low | 5 | 49 | 14 | ||||||||
Below cutoff | 2 | 13 | 5 | 7 | 5 | 2 | 2 | 4 | 23 | 6 | 2 |
RefSeq Acc Id: | ENSRNOT00000057845 ⟹ ENSRNOP00000054654 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000086896 ⟹ ENSRNOP00000069108 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000107787 ⟹ ENSRNOP00000086979 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000117188 ⟹ ENSRNOP00000080482 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_053901 ⟹ NP_446353 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_039094154 ⟹ XP_038950082 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039094156 ⟹ XP_038950084 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039094157 ⟹ XP_038950085 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_063275039 ⟹ XP_063131109 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NP_446353 ⟸ NM_053901 |
- UniProtKB: | P97837 (UniProtKB/Swiss-Prot), A0A8I5ZQT2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000054654 ⟸ ENSRNOT00000057845 |
RefSeq Acc Id: | ENSRNOP00000069108 ⟸ ENSRNOT00000086896 |
RefSeq Acc Id: | XP_038950085 ⟸ XM_039094157 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8I6A4U6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038950082 ⟸ XM_039094154 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P97837 (UniProtKB/Swiss-Prot), A0A0G2JUI3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038950084 ⟸ XM_039094156 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A6IWE1 (UniProtKB/TrEMBL), F1LSL6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000086979 ⟸ ENSRNOT00000107787 |
RefSeq Acc Id: | ENSRNOP00000080482 ⟸ ENSRNOT00000117188 |
RefSeq Acc Id: | XP_063131109 ⟸ XM_063275039 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P97837-F1-model_v2 | AlphaFold | P97837 | 1-1059 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:620224 | AgrOrtholog |
BioCyc Gene | G2FUF-10745 | BioCyc |
Ensembl Genes | ENSRNOG00000012573 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000057845.3 | UniProtKB/TrEMBL |
ENSRNOT00000086896.2 | UniProtKB/TrEMBL | |
ENSRNOT00000107787.1 | UniProtKB/TrEMBL | |
ENSRNOT00000117188 | ENTREZGENE | |
ENSRNOT00000117188.1 | UniProtKB/TrEMBL | |
InterPro | SAPAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | rno:116681 | UniProtKB/Swiss-Prot |
NCBI Gene | 116681 | ENTREZGENE |
PANTHER | PTHR12353 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12353:SF3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | GKAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Dlgap2 | PhenoGen |
RatGTEx | ENSRNOG00000012573 | RatGTEx |
UniProt | A0A0G2JUI3 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZQT2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I6A4U6 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IWE1 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IWE2_RAT | UniProtKB/TrEMBL | |
A6IWE3_RAT | UniProtKB/TrEMBL | |
DLGP2_RAT | UniProtKB/Swiss-Prot | |
F1LSL6 | ENTREZGENE, UniProtKB/TrEMBL | |
P97837 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-06-01 | Dlgap2 | DLG associated protein 2 | Dlgap2 | discs large homolog associated protein 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2016-01-27 | Dlgap2 | discs large homolog associated protein 2 | Dlgap2 | discs, large (Drosophila) homolog-associated protein 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-09-10 | Dlgap2 | discs, large (Drosophila) homolog-associated protein 2 | Symbol and Name status set to approved | 1299863 | APPROVED | ||
2002-08-07 | Dlgap2 | discs, large (Drosophila) homolog-associated protein 2 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
---|---|---|
gene_cellular_localization | localized to the synaptoneurosome fraction | 629555 |
gene_expression | protein is detected in the superior colliculus and visual cortex | 629555 |
gene_process | increased localization to dendrites is associated with eye opening | 629555 |
gene_process | may play a role in visual neuron development | 629555 |
gene_process | may play a role in maintaining postsynaptic densities by concentrating its components to that area | 68237 |