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AUTS2

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Protein-coding gene in the species Homo sapiens
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; OMA:AUTS2 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)
Chromosome 7 (human)Genomic location for AUTS2Genomic location for AUTS2
Band7q11.22Start69,598,296 bp
End70,793,506 bp
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)
Chromosome 5 (mouse)Genomic location for AUTS2Genomic location for AUTS2
Band5|5 G2Start131,466,171 bp
End132,572,183 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • tibia

  • ganglionic eminence

  • bronchial epithelial cell

  • sural nerve

  • mucosa of paranasal sinus

  • parotid gland

  • lactiferous duct

  • dorsal motor nucleus of vagus nerve

  • skin of thigh

  • external globus pallidus
Top expressed in
  • lacrimal gland

  • zygote

  • fossa

  • ganglionic eminence

  • condyle

  • medial ganglionic eminence

  • ascending aorta

  • nucleus accumbens

  • transitional epithelium of urinary bladder

  • Amygdala
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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 MbChr 5: 131.47 – 132.57 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

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.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000158321Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000029673Ensembl, 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: 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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