Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6456
Gene name	SH3 domain containing GRB2 like 2, endophilin A1
Gene symbol	SH3GL2
Synonyms (NCBI Gene)	CNSA2EEN-B1SH3D2ASH3P4
Chromosome	9
Chromosome location	9p22.2

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006922	hsa-miR-330-3p	Luciferase reporter assay	23029364
MIRT006922	hsa-miR-330-3p	Luciferase reporter assay	23029364
MIRT029583	hsa-miR-26b-5p	Microarray	19088304
MIRT731527	hsa-miR-107	Luciferase reporter assay	27038654
MIRT731527	hsa-miR-107	Luciferase reporter assay	27038654
MIRT731527	hsa-miR-107	Luciferase reporter assay	27038654
MIRT731527	hsa-miR-107	Luciferase reporter assay	27038654
MIRT731527	hsa-miR-107	Luciferase reporter assay	27038654
MIRT731527	hsa-miR-107	Luciferase reporter assay	27038654
MIRT1345099	hsa-miR-1914	CLIP-seq
MIRT1345100	hsa-miR-3127-3p	CLIP-seq
MIRT1345101	hsa-miR-3160-5p	CLIP-seq
MIRT1345102	hsa-miR-3194-5p	CLIP-seq
MIRT1345103	hsa-miR-338-3p	CLIP-seq
MIRT1345104	hsa-miR-339-5p	CLIP-seq
MIRT1345105	hsa-miR-3679-3p	CLIP-seq
MIRT1345106	hsa-miR-4279	CLIP-seq
MIRT1345107	hsa-miR-4639-5p	CLIP-seq
MIRT1345108	hsa-miR-4695-5p	CLIP-seq
MIRT1345109	hsa-miR-548g	CLIP-seq
MIRT1345110	hsa-miR-548p	CLIP-seq
MIRT1345111	hsa-miR-670	CLIP-seq
MIRT1345112	hsa-miR-938	CLIP-seq
MIRT1345102	hsa-miR-3194-5p	CLIP-seq
MIRT1345103	hsa-miR-338-3p	CLIP-seq
MIRT1345108	hsa-miR-4695-5p	CLIP-seq
MIRT1345102	hsa-miR-3194-5p	CLIP-seq
MIRT1345103	hsa-miR-338-3p	CLIP-seq
MIRT2102098	hsa-miR-4436b-3p	CLIP-seq
MIRT2102099	hsa-miR-4659a-3p	CLIP-seq
MIRT2102100	hsa-miR-4659b-3p	CLIP-seq
MIRT1345108	hsa-miR-4695-5p	CLIP-seq
MIRT2326551	hsa-miR-138	CLIP-seq
MIRT2326552	hsa-miR-3126-5p	CLIP-seq
MIRT1345102	hsa-miR-3194-5p	CLIP-seq
MIRT2326553	hsa-miR-329	CLIP-seq
MIRT1345103	hsa-miR-338-3p	CLIP-seq
MIRT2326554	hsa-miR-362-3p	CLIP-seq
MIRT2326555	hsa-miR-3941	CLIP-seq
MIRT2326556	hsa-miR-4299	CLIP-seq
MIRT2326557	hsa-miR-4419a	CLIP-seq
MIRT2326558	hsa-miR-4510	CLIP-seq
MIRT1345108	hsa-miR-4695-5p	CLIP-seq
MIRT2326559	hsa-miR-4710	CLIP-seq
MIRT2326560	hsa-miR-4747-5p	CLIP-seq
MIRT2326561	hsa-miR-4792	CLIP-seq
MIRT2326562	hsa-miR-603	CLIP-seq
MIRT1345102	hsa-miR-3194-5p	CLIP-seq
MIRT1345103	hsa-miR-338-3p	CLIP-seq
MIRT1345108	hsa-miR-4695-5p	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002090	Process	Regulation of receptor internalization	IEA
GO:0005515	Function	Protein binding	IPI	10531379, 10764144, 15919751, 16115810, 16164598, 16169070, 16696976, 16713569, 17174262, 17257598, 18602463, 18641129, 21900206, 22998870, 24076656, 24854121, 25501810, 25517094, 28514442, 28891236, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006897	Process	Endocytosis	IEA
GO:0007165	Process	Signal transduction	TAS	9169142
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	9169142
GO:0008289	Function	Lipid binding	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	24854121
GO:0016020	Component	Membrane	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031175	Process	Neuron projection development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	IDA	24854121
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16115810, 20404169, 25517094
GO:0042995	Component	Cell projection	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	24854121
GO:0045202	Component	Synapse	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	24854121
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0097484	Process	Dendrite extension	IEA
GO:0097484	Process	Dendrite extension	ISS
GO:0098684	Component	Photoreceptor ribbon synapse	IEA
GO:0098793	Component	Presynapse	IBA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098974	Process	Postsynaptic actin cytoskeleton organization	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:1905604	Process	Negative regulation of blood-brain barrier permeability	IMP	24854121
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	IEA
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	ISS

MIM	HGNC	e!Ensembl
604465	10831	ENSG00000107295

Q99962

Protein name

Endophilin-A1 (EEN-B1) (Endophilin-1) (SH3 domain protein 2A) (SH3 domain-containing GRB2-like protein 2)

Protein function

Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from

PDB

1X03 , 1X04 , 2D4C , 2DBM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03114	BAR	6 → 242	BAR domain	Domain
PF07653	SH3_2	294 → 347	Variant SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain, mostly in frontal cortex. Expressed at high level in fetal cerebellum.

Sequence

MSVAGLKKQFHKATQKVSEKVGGAEGTKLDDDFKEMERKVDVTSRAVMEIMTKTIEYLQP
NPASRAKLSMINTMSKIRGQEKGPGYPQAEALLAEAMLKFGRELGDDCNFGPALGEVGEA
MRELSEVKDSLDIEVKQNFIDPLQNLHDKDLREIQHHLKKLEGRRLDFDYKKKRQGKIPD
EELRQALEKFDESKEIAESSMFNLLEMDIEQVSQLSALVQAQLEYHKQAVQILQQVTVRL
EERIRQASSQPRREYQPKPRMSLEFPTGDSTQPNGGLSHTGTPKPSGVQMDQPCCRALYD
FEPENEGELGFKEGDIITLTNQIDENWYEGMLHGHSGFFPINYVEILVALPH

Sequence length

352

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		Retrograde neurotrophin signalling EGFR downregulation MHC class II antigen presentation Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis Recycling pathway of L1 Negative regulation of MET activity Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	27610375	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Associate	30801976	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Associate	18670637	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	26823912	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	31908393, 32068233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Associate	28682143	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	23029364, 28470949, 32647207	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Inhibit	27655637	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Associate	27655637	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Inhibit	28470949	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Associate	25728707	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kimura Disease	Associate	25728707	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Associate	35296518	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	26823912	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	28470949	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Associate	23675485	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillomavirus Infections	Associate	26823912	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	32139796, 37716354	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Associate	37399175	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	23675485, 25728707	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	31960967	★★★★★ ★☆☆☆☆ Found in Text Mining only

SH3GL2 (SH3 domain containing GRB2 like 2, endophilin A1)