• Gene id: 6457

Gene Summary

• Gene Symbol: SH3GL3   Gene   UCSC   Ensembl
• Aliases: CNSA3, EEN-B2, HsT19371, SH3D2C, SH3P13
• Gene name: SH3 domain containing GRB2 like 3, endophilin A3
• Alternate names: endophilin-A3, SH3 domain containing GRB2 like endophilin A3, SH3 domain protein 2C, SH3 domain-containing GRB2-like protein 3, SH3-domain GRB2-like 3, endophilin-3,
• Gene location: 15q25.2 (81761644: 81489702)     Exons: 16     NC_000003.12
• OMIM: 603362

Protein Summary

• Protein general information: Q99963  
  • Name: Endophilin A3 (EEN B2) (Endophilin 3) (SH3 domain protein 2C) (SH3 domain containing GRB2 like protein 3)
  • Length: 347  
  • Mass: 39285
  • Tissue specificity: Brain and testis.
• Sequence:

  MSVAGLKKQFHKASQLFSEKISGAEGTKLDDEFLDMERKIDVTNKVVAEILSKTTEYLQPNPAYRAKLGMLNTVS
  KIRGQVKTTGYPQTEGLLGDCMLKYGKELGEDSTFGNALIEVGESMKLMAEVKDSLDINVKQTFIDPLQLLQDKD
  LKEIGHHLKKLEGRRLDYDYKKKRVGKIPDEEVRQAVEKFEESKELAERSMFNFLENDVEQVSQLAVFIEAALDY
  HRQSTEILQELQSKLQMRISAASSVPRREYKPRPVKRSSSELNGVSTTSVVKTTGSNIPMDQPCCRGLYDFEPEN
  QGELGFKEGDIITLTNQIDENWYEGMIHGESGFFPINYVEVIVPLPQ

• Structural information:
  • Protein Domains: (18..24-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (285..34-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR004148  IPR028501  IPR032469  IPR035824   IPR036028  IPR001452  
  • Prosite: PS51021 PS50002
  • CDD: cd07615 cd11803
  • PDB: 2EW3 2Z0V
  • PDBsum: 2EW3 2Z0V
  • DIP: 34766
  • STRING: ENSP00000320092
• Other Databases: GeneCards:  SH3GL3  Malacards:  SH3GL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
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:0098845	postsynaptic endosome	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:2000369	regulation of clathrin-dependent endocytosis	IEA	biological process
GO:1900186	negative regulation of clathrin-dependent endocytosis	IEA	biological process
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	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
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray