Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | SH3GL2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | SH3GL2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Endophilin A1 induces different membrane shapes using a conformational switch that is regulated by phosphorylation. | Ambroso MR, etal., Proc Natl Acad Sci U S A. 2014 May 13;111(19):6982-7. doi: 10.1073/pnas.1402233111. Epub 2014 Apr 28. |
2. | Syndapin I and endophilin I bind overlapping proline-rich regions of dynamin I: role in synaptic vesicle endocytosis. | Anggono V and Robinson PJ, J Neurochem. 2007 Aug;102(3):931-43. Epub 2007 Apr 16. |
3. | Intradimer/Intermolecular interactions suggest autoinhibition mechanism in endophilin A1. | Chen Z, etal., J Am Chem Soc. 2014 Mar 26;136(12):4557-64. doi: 10.1021/ja411607b. Epub 2014 Mar 13. |
4. | Arc/Arg3.1 interacts with the endocytic machinery to regulate AMPA receptor trafficking. | Chowdhury S, etal., Neuron. 2006 Nov 9;52(3):445-59. |
5. | Identification of endophilins 1 and 3 as selective binding partners for VGLUT1 and their co-localization in neocortical glutamatergic synapses: implications for vesicular glutamate transporter trafficking and excitatory vesicle formation. | De Gois S, etal., Cell Mol Neurobiol. 2006 Jul-Aug;26(4-6):679-93. doi: 10.1007/s10571-006-9054-8. Epub 2006 May 19. |
6. | Identification of the major synaptojanin-binding proteins in brain. | de Heuvel E, etal., J Biol Chem. 1997 Mar 28;272(13):8710-6. |
7. | Generation of high curvature membranes mediated by direct endophilin bilayer interactions. | Farsad K, etal., J Cell Biol. 2001 Oct 15;155(2):193-200. doi: 10.1083/jcb.200107075. Epub 2001 Oct 15. |
8. | Mechanism of endophilin N-BAR domain-mediated membrane curvature. | Gallop JL, etal., EMBO J. 2006 Jun 21;25(12):2898-910. doi: 10.1038/sj.emboj.7601174. Epub 2006 Jun 8. |
9. | 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. |
10. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
11. | Early increase of apoptosis-linked gene-2 interacting protein X in areas of kainate-induced neurodegeneration. | Hemming FJ, etal., Neuroscience. 2004;123(4):887-95. |
12. | Interaction of SPIN90 with dynamin I and its participation in synaptic vesicle endocytosis. | Kim Y, etal., J Neurosci. 2005 Oct 12;25(41):9515-23. |
13. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
14. | Synaptojanin forms two separate complexes in the nerve terminal. Interactions with endophilin and amphiphysin. | Micheva KD, etal., J Biol Chem. 1997 Oct 24;272(43):27239-45. doi: 10.1074/jbc.272.43.27239. |
15. | Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. | Milosevic I, etal., Neuron. 2011 Nov 17;72(4):587-601. doi: 10.1016/j.neuron.2011.08.029. |
16. | Multiple modes of endophilin-mediated conversion of lipid vesicles into coated tubes: implications for synaptic endocytosis. | Mizuno N, etal., J Biol Chem. 2010 Jul 23;285(30):23351-8. doi: 10.1074/jbc.M110.143776. Epub 2010 May 18. |
17. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
18. | Identification and characterization of a synaptojanin 2 splice isoform predominantly expressed in nerve terminals. | Nemoto Y, etal., J Biol Chem 2001 Nov 2;276(44):41133-42. |
19. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
20. | Endophilin regulates JNK activation through its interaction with the germinal center kinase-like kinase. | Ramjaun AR, etal., J Biol Chem 2001 Aug 3;276(31):28913-9. |
21. | GOA pipeline | RGD automated data pipeline |
22. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
23. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
24. | Differential expression of endophilin 1 and 2 dimers at central nervous system synapses. | Ringstad N, etal., J Biol Chem. 2001 Nov 2;276(44):40424-30. doi: 10.1074/jbc.M106338200. Epub 2001 Aug 22. |
25. | The SH3p4/Sh3p8/SH3p13 protein family: binding partners for synaptojanin and dynamin via a Grb2-like Src homology 3 domain. | Ringstad N, etal., Proc Natl Acad Sci U S A 1997 Aug 5;94(16):8569-74. |
26. | Synaptic vesicle endocytosis. | Saheki Y and De Camilli P, Cold Spring Harb Perspect Biol. 2012 Sep 1;4(9):a005645. doi: 10.1101/cshperspect.a005645. |
27. | Inhibitory role of endophilin 3 in receptor-mediated endocytosis. | Sugiura H, etal., J Biol Chem. 2004 May 28;279(22):23343-8. doi: 10.1074/jbc.M312607200. Epub 2004 Apr 5. |
28. | Endophilin isoforms have distinct characteristics in interactions with N-type Ca2+ channels and dynamin I. | Tian Q, etal., Neurosci Bull. 2012 Oct;28(5):483-92. doi: 10.1007/s12264-012-1257-z. Epub 2012 Jul 13. |
29. | Distinct endocytic pathways control the rate and extent of synaptic vesicle protein recycling. | Voglmaier SM, etal., Neuron. 2006 Jul 6;51(1):71-84. doi: 10.1016/j.neuron.2006.05.027. |
30. | A single PXXP motif in the C-terminal region of srGAP3 mediates binding to multiple SH3 domains. | Wuertenberger S and Groemping Y, FEBS Lett. 2015 Apr 28;589(10):1156-63. doi: 10.1016/j.febslet.2015.03.014. Epub 2015 Mar 24. |
PMID:10908605 | PMID:14704270 | PMID:15821731 | PMID:16115810 | PMID:16164598 | PMID:18391417 | PMID:18940612 | PMID:19481455 | PMID:20404169 | PMID:20418375 | PMID:21849472 | PMID:22768939 |
PMID:23376485 | PMID:23442862 | PMID:23482561 | PMID:23785143 | PMID:24854121 | PMID:25517094 | PMID:26854628 | PMID:28235806 | PMID:28933693 | PMID:29476059 | PMID:31059028 |
Sh3gl2 (Rattus norvegicus - Norway rat) |
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SH3GL2 (Homo sapiens - human) |
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Sh3gl2 (Mus musculus - house mouse) |
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Sh3gl2 (Chinchilla lanigera - long-tailed chinchilla) |
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SH3GL2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SH3GL2 (Canis lupus familiaris - dog) |
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SH3GL2 (Sus scrofa - pig) |
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SH3GL2 (Chlorocebus sabaeus - green monkey) |
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Sh3gl2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Sh3gl2
1892 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 |
D5Rat151 |
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AU047584 |
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G47071 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 2 | 64 | 25 | 18 | 2 | ||||||||
Low | 1 | 32 | 15 | 18 | 4 | 6 | 10 | 10 | 23 | 9 | 4 | ||
Below cutoff | 11 | 35 | 34 | 1 | 34 | 4 | 5 | 4 |
RefSeq Transcripts | NM_053935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006238359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017593124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063287074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF009603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000008999 ⟹ ENSRNOP00000008999 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000100135 ⟹ ENSRNOP00000081211 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000110787 ⟹ ENSRNOP00000087931 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000111420 ⟹ ENSRNOP00000088763 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_053935 ⟹ NP_446387 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006238359 ⟹ XP_006238421 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_063287074 ⟹ XP_063143144 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_446387 | (Get FASTA) | NCBI Sequence Viewer |
XP_006238421 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063143144 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC14883 | (Get FASTA) | NCBI Sequence Viewer |
EDM10450 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000008999 | ||
ENSRNOP00000008999.6 | |||
ENSRNOP00000081211.1 | |||
ENSRNOP00000087931 | |||
ENSRNOP00000087931.1 | |||
ENSRNOP00000088763.1 | |||
GenBank Protein | O35179 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_446387 ⟸ NM_053935 |
- UniProtKB: | O35179 (UniProtKB/Swiss-Prot), A6J857 (UniProtKB/TrEMBL), A0A8L2Q412 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006238421 ⟸ XM_006238359 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I6GFM2 (UniProtKB/TrEMBL), A0A8L2Q412 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000008999 ⟸ ENSRNOT00000008999 |
RefSeq Acc Id: | ENSRNOP00000087931 ⟸ ENSRNOT00000110787 |
RefSeq Acc Id: | ENSRNOP00000088763 ⟸ ENSRNOT00000111420 |
RefSeq Acc Id: | ENSRNOP00000081211 ⟸ ENSRNOT00000100135 |
RefSeq Acc Id: | XP_063143144 ⟸ XM_063287074 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O35179-F1-model_v2 | AlphaFold | O35179 | 1-352 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13693821 | ||||||||
Promoter ID: | EPDNEW_R4346 | ||||||||
Type: | initiation region | ||||||||
Name: | Sh3gl2_1 | ||||||||
Description: | SH3 domain containing GRB2 like 2, endophilin A1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:620276 | AgrOrtholog |
BIND | 130461 | |
130589 | ||
134434 | ||
BioCyc Gene | G2FUF-40854 | BioCyc |
Ensembl Genes | ENSRNOG00000006761 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000008999 | ENTREZGENE |
ENSRNOT00000008999.7 | UniProtKB/TrEMBL | |
ENSRNOT00000100135.1 | UniProtKB/TrEMBL | |
ENSRNOT00000110787.1 | UniProtKB/TrEMBL | |
ENSRNOT00000111420.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1270.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 Domains | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | AH/BAR_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BAR_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Endophilin_A_SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:116743 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 116743 | ENTREZGENE |
PANTHER | ENDOPHILIN-A1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 DOMAIN-CONTAINING | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BAR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Sh3gl2 | PhenoGen |
PRINTS | SH3DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SPECTRNALPHA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | BAR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000006761 | RatGTEx |
SMART | BAR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF103657 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF50044 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8I5ZRH7_RAT | UniProtKB/TrEMBL |
A0A8I6ABD8_RAT | UniProtKB/TrEMBL | |
A0A8I6GFM2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8L2Q412 | ENTREZGENE, UniProtKB/TrEMBL | |
A6J857 | ENTREZGENE, UniProtKB/TrEMBL | |
O35179 | ENTREZGENE, UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2017-06-19 | Sh3gl2 | SH3 domain containing GRB2 like 2, endophilin A1 | Sh3gl2 | SH3 domain-containing GRB2-like 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2016-05-04 | Sh3gl2 | SH3 domain-containing GRB2-like 2 | Sh3gl2 | SH3-domain GRB2-like 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-30 | Sh3gl2 | SH3-domain GRB2-like 2 | SH3 domain protein 2A | Name updated | 1299863 | APPROVED | |
2004-09-10 | Sh3gl2 | SH3 domain protein 2A | Sh3d2a | Symbol and Name updated | 1299863 | APPROVED | |
2002-08-07 | Sh3d2a | SH3 domain protein 2A | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_expression | expressed only in brain | 633918 |