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SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2

Gene ID: 6455, updated on 3-Apr-2024
Gene type: protein coding
Also known as: EEN; CNSA1; SH3P8; SH3D2B

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 the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

Genomic context

Location:
19p13.3
Sequence:
Chromosome: 19; NC_000019.10 (4360370..4400547, complement)
Total number of exons:
12

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