AUTS2

Protein-coding gene in the species Homo sapiens

AUTS2

Identifiers

Aliases

AUTS2, FBRSL2, MRD26, activator of transcription and developmental regulator, activator of transcription and developmental regulator AUTS2

External IDs

OMIM: 607270; MGI: 1919847; HomoloGene: 22907; GeneCards: AUTS2; OMA:AUTS2 - orthologs

Gene location (Human)

Chr.	Chromosome 7 (human)^[1]

Band	7q11.22	Start	69,598,296 bp^[1]
Band	7q11.22	End	70,793,506 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5\|5 G2	Start	131,466,171 bp^[2]
Band	5\|5 G2	End	132,572,183 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (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	chromatin binding protein binding molecular function
Cellular component	nucleus growth cone cytoplasm cytoskeleton cell projection cellular component actin cytoskeleton
Biological process	positive regulation of histone H3-K4 methylation positive regulation of transcription by RNA polymerase II positive regulation of histone H4-K16 acetylation transcription, DNA-templated regulation of transcription, DNA-templated biological process neuron migration positive regulation of lamellipodium assembly actin cytoskeleton reorganization positive regulation of Rac protein signal transduction axon extension dendrite extension righting reflex innate vocalization behavior forebrain neuron development embryonic viscerocranium morphogenesis neuron cellular homeostasis
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

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 Mb

Chr 5: 131.47 – 132.57 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

AUTS2, activator of transcription and developmental regulator is a protein that in humans is encoded by the AUTS2 gene. ^[5]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000158321 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029673 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: AUTS2, activator of transcription and developmental regulator". Retrieved 2017-09-12.

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