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	6457
Gene name	SH3 domain containing GRB2 like 3, endophilin A3
Gene symbol	SH3GL3
Synonyms (NCBI Gene)	CNSA3EEN-B2HsT19371SH3D2CSH3P13
Chromosome	15
Chromosome location	15q25.2

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048236	hsa-miR-196a-5p	CLASH	23622248
MIRT1345113	hsa-miR-105	CLIP-seq
MIRT1345114	hsa-miR-1179	CLIP-seq
MIRT1345115	hsa-miR-1262	CLIP-seq
MIRT1345116	hsa-miR-3671	CLIP-seq
MIRT1345117	hsa-miR-3672	CLIP-seq
MIRT1345118	hsa-miR-451b	CLIP-seq
MIRT1345119	hsa-miR-4662a-5p	CLIP-seq
MIRT1345120	hsa-miR-4701-3p	CLIP-seq
MIRT1345121	hsa-miR-607	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0005515	Function	Protein binding	IPI	15383276, 15919751, 16115810, 16169070, 16713569, 17161366, 18602463, 21900206, 24076656, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
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:0016020	Component	Membrane	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	16115810, 21900206
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0098793	Component	Presynapse	IBA
GO:0098793	Component	Presynapse	IEA
GO:0098845	Component	Postsynaptic endosome	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:1900186	Process	Negative regulation of clathrin-dependent endocytosis	IEA
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	IEA

MIM	HGNC	e!Ensembl
603362	10832	ENSG00000140600

Q99963

Protein name

Endophilin-A3 (EEN-B2) (Endophilin-3) (SH3 domain protein 2C) (SH3 domain-containing GRB2-like protein 3)

Protein function

Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).

PDB

2EW3 , 2Z0V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03114	BAR	6 → 242	BAR domain	Domain
PF00018	SH3_1	291 → 336	SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain and testis.

Sequence

MSVAGLKKQFHKASQLFSEKISGAEGTKLDDEFLDMERKIDVTNKVVAEILSKTTEYLQP
NPAYRAKLGMLNTVSKIRGQVKTTGYPQTEGLLGDCMLKYGKELGEDSTFGNALIEVGES
MKLMAEVKDSLDINVKQTFIDPLQLLQDKDLKEIGHHLKKLEGRRLDYDYKKKRVGKIPD
EEVRQAVEKFEESKELAERSMFNFLENDVEQVSQLAVFIEAALDYHRQSTEILQELQSKL
QMRISAASSVPRREYKPRPVKRSSSELNGVSTTSVVKTTGSNIPMDQPCCRGLYDFEPEN
QGELGFKEGDIITLTNQIDENWYEGMIHGESGFFPINYVEVIVPLPQ

Sequence length

347

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		EGFR downregulation 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 (7)

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.
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DYSPLASIA OF THE HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	22901147	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genital Diseases Female	Associate	31488892	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Associate	31488892	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Inhibit	37916731	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	17391312	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	27683032	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	37916731	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	31488892	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	17391312	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	31488892	★★★★★ ★☆☆☆☆ Found in Text Mining only

SH3GL3 (SH3 domain containing GRB2 like 3, endophilin A3)