Gene Gene information from NCBI Gene database.
Entrez ID 6455
Gene name SH3 domain containing GRB2 like 1, endophilin A2
Gene symbol SH3GL1
Synonyms (NCBI Gene)
CNSA1EENSH3D2BSH3P8
Chromosome 19
Chromosome location 19p13.3
Summary This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and
miRNA miRNA information provided by mirtarbase database.
252
miRTarBase ID miRNA Experiments Reference
MIRT028595 hsa-miR-30a-5p Proteomics 18668040
MIRT044698 hsa-miR-320a CLASH 23622248
MIRT041509 hsa-miR-193b-3p CLASH 23622248
MIRT038486 hsa-miR-296-3p CLASH 23622248
MIRT037699 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IEA
GO:0005515 Function Protein binding IPI 16115810, 16169070, 16189514, 19060904, 21516116, 21900206, 22998870, 25036101, 28514442, 31046837, 32296183, 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 25468996
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601768 10830 ENSG00000141985
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99961
Protein name Endophilin-A2 (EEN fusion partner of MLL) (Endophilin-2) (Extra eleven-nineteen leukemia fusion gene protein) (EEN) (SH3 domain protein 2B) (SH3 domain-containing GRB2-like protein 1)
Protein function Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03114 BAR 6 242 BAR domain Domain
PF00018 SH3_1 312 357 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Higher expression in pancreas, placenta, prostate, testis and uterus.
Sequence
Sequence length 368
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   EGFR downregulation
Negative regulation of MET activity
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs243261 RCV001807455
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 33960436
Colorectal Neoplasms Associate 27220321
Neoplasm Metastasis Associate 27220321
Neoplasms Associate 27220321, 33960436
Scoliosis Associate 22183150
Tuberculosis Multidrug Resistant Associate 27220321