Additional sex combs like 2, transcriptional regulator

Additional sex combs like 2, transcriptional regulator is a protein that in humans is encoded by the ASXL2 gene. [5]

ASXL2
Identifiers
AliasesASXL2, ASXH2, additional sex combs like 2, transcriptional regulator, SHAPNS, ASXL transcriptional regulator 2
External IDsOMIM: 612991 MGI: 1922552 HomoloGene: 10102 GeneCards: ASXL2
Orthologs
SpeciesHumanMouse
Entrez

55252

75302

Ensembl

ENSG00000143970

ENSMUSG00000037486

UniProt

Q76L83

Q8BZ32

RefSeq (mRNA)

NM_018263
NM_001369346
NM_001369347

NM_001270988
NM_172421

RefSeq (protein)

NP_060733
NP_001356275
NP_001356276

NP_001257917
NP_766009

Location (UCSC)Chr 2: 25.73 – 25.88 MbChr 12: 3.43 – 3.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000143970 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000037486 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Additional sex combs like 2, transcriptional regulator". Retrieved 2017-06-03.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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