Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6455
Gene name Gene Name - the full gene name approved by the HGNC.
SH3 domain containing GRB2 like 1, endophilin A2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SH3GL1
Synonyms (NCBI Gene) Gene synonyms aliases
CNSA1, EEN, SH3D2B, SH3P8
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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
GO:0005737 Component Cytoplasm IDA 25468996
GO:0005829 Component Cytosol IDA
GO:0007165 Process Signal transduction TAS 9169142
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601768 10830 ENSG00000141985
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Unknown
Disease term Disease name Evidence References Source
Immunodeficiency immunodeficiency disease GenCC
Associations from Text Mining
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