AUTS2

AUTS2, activator of transcription and developmental regulator is a protein that in humans is encoded by the AUTS2 gene. [4]

AUTS2
Identifiers
AliasesAUTS2, FBRSL2, MRD26, activator of transcription and developmental regulator, activator of transcription and developmental regulator AUTS2
External IDsOMIM: 607270 MGI: 1919847 HomoloGene: 22907 GeneCards: AUTS2
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q11.22Start69,598,296 bp[1]
End70,793,506 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

26053

319974

Ensembl

ENSG00000158321

ENSMUSG00000029673

UniProt

Q8WXX7

A0A087WPF7

RefSeq (mRNA)

NM_001127231
NM_001127232
NM_015570

NM_001363480

RefSeq (protein)

NP_001120703
NP_001120704
NP_056385

NP_001350409

Location (UCSC)Chr 7: 69.6 – 70.79 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms.

References

  1. GRCh38: Ensembl release 89: ENSG00000158321 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Entrez Gene: AUTS2, activator of transcription and developmental regulator". Retrieved 2017-09-12.

Further reading

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


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