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

Gene

• Entrez ID: 6456
• Gene name: SH3 domain containing GRB2 like 2, endophilin A1
• Gene symbol: SH3GL2
• Synonyms (NCBI Gene): CNSA2, EEN-B1, SH3D2A, SH3P4
• Chromosome: 9
• Chromosome location: 9p22.2

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 604465
• HGNC: 10831
• e!Ensembl: ENSG00000107295

Protein

• UniProt ID: 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

Pathways

KEGG:

Endocytosis

Reactome:

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

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	30801976	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31059028		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	18670637	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18239974, 26888829		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	17376308		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26823912	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28330808		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29481784		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29481784		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	31908393, 32068233	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	28682143	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23029364, 24736727, 27655637, 28470949		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23029364, 28470949, 32647207	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27655637	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23029364, 24736727, 27655637, 28470949		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27655637, 28470949		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27655637	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28470949	Inhibit	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25728707	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31059028		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	17376308, 20512084		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26888829		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18239974		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	35296518	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20944657		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19023882, 20512084, 22968441, 23814487, 24736727, 26823912, 26888829, 28470949		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22968441		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	23675485	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	22451204, 27182965, 28892059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASDB_DG	22451204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	30509690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	32139796, 37716354	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28330808		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30149091		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37399175	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23675485, 25728707	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19023882, 23675485, 25728707		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	26823912		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31960967	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	23814487		★☆☆☆☆ Found in Text Mining only