Gene Symbol | ASXL2 |
Entrez Gene ID | 55252 |
Full Name | additional sex combs like 2, transcriptional regulator |
Synonyms | ASXH2,SHAPNS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]. |
Disorder MIM: | |
Disorder Html: | Shashi-Pena syndrome, 617190 (3) |