• Gene id: 6456

Gene Summary

• Gene Symbol: SH3GL2   Gene   UCSC   Ensembl
• Aliases: CNSA2, EEN-B1, SH3D2A, SH3P4
• Gene name: SH3 domain containing GRB2 like 2, endophilin A1
• Alternate names: endophilin-A1, Endophilin A1 BAR domain, SH3 domain protein 2A, SH3 domain-containing GRB2-like protein 2, SH3-domain GRB2-like 2, bA335L15.1 (SH3-domain GRB2-like 2), endophilin-1,
• Gene location: 9p22.2 (17579065: 17797123)     Exons: 10     NC_000009.12
• OMIM: 604465

Protein Summary

• Protein general information: Q99962  
  • Name: Endophilin A1 (EEN B1) (Endophilin 1) (SH3 domain protein 2A) (SH3 domain containing GRB2 like protein 2)
  • Length: 352  
  • Mass: 39962
  • Tissue specificity: Brain, mostly in frontal cortex. Expressed at high level in fetal cerebellum.
• Sequence:

  MSVAGLKKQFHKATQKVSEKVGGAEGTKLDDDFKEMERKVDVTSRAVMEIMTKTIEYLQPNPASRAKLSMINTMS
  KIRGQEKGPGYPQAEALLAEAMLKFGRELGDDCNFGPALGEVGEAMRELSEVKDSLDIEVKQNFIDPLQNLHDKD
  LREIQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFDESKEIAESSMFNLLEMDIEQVSQLSALVQAQLEY
  HKQAVQILQQVTVRLEERIRQASSQPRREYQPKPRMSLEFPTGDSTQPNGGLSHTGTPKPSGVQMDQPCCRALYD
  FEPENEGELGFKEGDIITLTNQIDENWYEGMLHGHSGFFPINYVEILVALPH

• Structural information:
  • Protein Domains: (18..24-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (290..34-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR004148  IPR035824  IPR036028  IPR001452  
  • Prosite: PS51021 PS50002
  • CDD: cd11803
  • PDB: 1X03 1X04 2D4C 2DBM
  • PDBsum: 1X03 1X04 2D4C 2DBM
  • DIP: 30996
  • STRING: ENSP00000369981
• Other Databases: GeneCards:  SH3GL2  Malacards:  SH3GL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IMP	cellular component
GO:0001933	negative regulation of protein phosphorylation	IMP	biological process
GO:1905604	negative regulation of blood-brain barrier permeability	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:1990416	cellular response to brain-derived neurotrophic factor stimulus	ISS	biological process
GO:0031175	neuron projection development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005769	early endosome	ISS	cellular component
GO:0097484	dendrite extension	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002090	regulation of receptor internalization	IEA	biological process
GO:0098684	photoreceptor ribbon synapse	IEA	cellular component
GO:0097484	dendrite extension	IEA	biological process
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0005769	early endosome	IEA	cellular component
GO:1903527	positive regulation of membrane tubulation	IEA	biological process
GO:0099050	vesicle scission	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0060988	lipid tube assembly	IEA	biological process
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:1990416	cellular response to brain-derived neurotrophic factor stimulus	IEA	biological process
GO:0099523	presynaptic cytosol	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0016191	synaptic vesicle uncoating	IEA	biological process
GO:2000369	regulation of clathrin-dependent endocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0097753	membrane bending	IEA	biological process
GO:0097749	membrane tubulation	IEA	biological process
GO:0097441	basal dendrite	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881