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

Gene

• Entrez ID: 6457
• Gene name: SH3 domain containing GRB2 like 3, endophilin A3
• Gene symbol: SH3GL3
• Synonyms (NCBI Gene): CNSA3, EEN-B2, HsT19371, SH3D2C, SH3P13
• Chromosome: 15
• Chromosome location: 15q25.2

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 603362
• HGNC: 10832
• e!Ensembl: ENSG00000140600

Protein

• UniProt ID: 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

Pathways

KEGG:

Endocytosis

Reactome:

EGFR downregulation
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
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30192066		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22901147		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22901147	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28952134		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28952134		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21722156		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	9809064		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	31488892	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37916731	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17391312	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21722156		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29920278		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27683032		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27683032	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30049645		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31488892	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17391312	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31488892	Associate	★☆☆☆☆ Found in Text Mining only