Cell atlas - AUTS2 - The Human Protein Atlas

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AUTS2

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Nucleoplasm

Human cell
	Cytosol
	Nucleoplasm

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GENERAL INFORMATION
Gene name	AUTS2
Gene description	Autism susceptibility candidate 2
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	8
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the nucleoplasm. In addition localized to the cytosol.
RNA cell category	Cell line enhanced (SCLC-21H)
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (approved)
Additional location	In addition localized to the Cytosol (approved)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA000390
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (SCLC-21H) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleoplasm. In addition localized to the cytosol.

Main location

Nucleoplasm (approved)

Additional location

Cytosol (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA000390	A-431	Nucleoplasm
	HPA000390	U-2 OS	Nucleoplasm	Intensity
	HPA000390	U-2 OS	Cytosol
	HPA000390	U-251 MG	Nucleoplasm
	HPA000390	U-251 MG	Cytosol

GENE INFORMATION
Gene name	AUTS2 (HGNC Symbol)
Synonyms	FBRSL2, KIAA0442
Description	Autism susceptibility candidate 2 (HGNC Symbol)
Entrez gene summary	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. [provided by RefSeq, May 2014]
Chromosome	7
Cytoband	q11.22
Chromosome location (bp)	69598919 - 70793068
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000158321 (version 83.38)
Entrez gene	26053
UniProt	Q8WXX7 (UniProt - Evidence at protein level)
neXtProt	NX_Q8WXX7
Antibodypedia	AUTS2 antibodies

PROTEIN BROWSER

AUTS2-001	AUTS2-002	AUTS2-003	AUTS2-007	AUTS2-008	AUTS2-015	AUTS2-201	AUTS2-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
AUTS2-001 ENSP00000344087 ENST00000342771	Q8WXX7 [Direct mapping] Autism susceptibility gene 2 protein Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0003682 [chromatin binding] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0005634 [nucleus] GO:0008150 [biological_process] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0060013 [righting reflex] GO:0098582 [innate vocalization behavior] GO:2000620 [positive regulation of histone H4-K16 acetylation] Show all	1259 aa 139 kDa	No	0
AUTS2-002 ENSP00000385263 ENST00000406775	Q8WXX7 [Direct mapping] Autism susceptibility gene 2 protein Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0003674 [molecular_function] GO:0003682 [chromatin binding] GO:0005575 [cellular_component] GO:0008150 [biological_process] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:2000620 [positive regulation of histone H4-K16 acetylation] Show all	1235 aa 136.4 kDa	No	0
AUTS2-003 ENSP00000385572 ENST00000403018	Q8WXX7 [Direct mapping] Autism susceptibility gene 2 protein Show all	Predicted intracellular proteins Plasma proteins Disease related genes Show all	GO:0003674 [molecular_function] GO:0003682 [chromatin binding] GO:0005575 [cellular_component] GO:0008150 [biological_process] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:2000620 [positive regulation of histone H4-K16 acetylation] Show all	266 aa 29.3 kDa	No	0
AUTS2-007 ENSP00000394887 ENST00000416482	H7C0G5 [Direct mapping] Autism susceptibility gene 2 protein Show all	Predicted intracellular proteins Show all		199 aa 21 kDa	No	0
AUTS2-008 ENSP00000393548 ENST00000443672	H7C090 [Direct mapping] Autism susceptibility gene 2 protein Show all	Predicted intracellular proteins Show all		181 aa 19.6 kDa	No	0
AUTS2-015 ENSP00000392333 ENST00000418686	H7BZZ9 [Direct mapping] Autism susceptibility gene 2 protein Show all	Predicted intracellular proteins Show all		183 aa 20.3 kDa	No	0
AUTS2-201 ENSP00000478134 ENST00000611706	Q75MD7 [Direct mapping] Autism susceptibility gene 2 protein; Putative uncharacterized protein AUTS2 Show all	Predicted intracellular proteins Show all		1011 aa 111.7 kDa	No	0
AUTS2-202 ENSP00000479325 ENST00000615871	A0A087WVB5 [Direct mapping] Autism susceptibility gene 2 protein Show all	Predicted intracellular proteins Show all		987 aa 109.2 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.