Seroatlas · Human Serome Atlas

AUTS2

Autism susceptibility gene 2 protein

Also known as: AUTS2_HUMAN, FBRSL2, KIAA0442

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WXX7
Gene: AUTS2
Ensembl: ENSG00000158321
Chromosome: 7
Canonical length: 1259 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1259 residues, UniProt reviewed canonical sequence.

>Q8WXX7|AUTS2
     1  MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGA GRTRALSLAS SSGSDKEDNG
    61  KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE ALEKDVALKP QERVEKRQTP
   121  LTKKKREALT NGLSFHSKKS RLSHPHHYSS DRENDRNLCQ HLGKRKKMPK ALRQLKPGQN
   181  SCRDSDSESA SGESKGFHRS SSRERLSDSS APSSLGTGYF CDSDSDQEEK ASDASSEKLF
   241  NTVIVNKDPE LGVGTLPEHD SQDAGPIVPK ISGLERSQEK SQDCCKEPIF EPVVLKDPCP
   301  QVAQPIPQPQ TEPQLRAPSP DPDLVQRTEA PPQPPPLSTQ PPQGPPEAQL QPAPQPQVQR
   361  PPRPQSPTQL LHQNLPPVQA HPSAQSLSQP LSAYNSSSLS LNSLSSSRSS TPAKTQPAPP
   421  HISHHPSASP FPLSLPNHSP LHSFTPTLQP PAHSHHPNMF APPTALPPPP PLTSGSLQVA
   481  GHPAGSTYSE QDILRQELNT RFLASQSADR GASLGPPPYL RTEFHQHQHQ HQHTHQHTHQ
   541  HTFTPFPHAI PPTAIMPTPA PPMFDKYPTK VDPFYRHSLF HSYPPAVSGI PPMIPPTGPF
   601  GSLQGAFQPK TSNPIDVAAR PGTVPHTLLQ KDPRLTDPFR PMLRKPGKWC AMHVHIAWQI
   661  YHHQQKVKKQ MQSDPHKLDF GLKPEFLSRP PGPSLFGAIH HPHDLARPST LFSAAGAAHP
   721  TGTPFGPPPH HSNFLNPAAH LEPFNRPSTF TGLAAVGGNA FGGLGNPSVT PNSMFGHKDG
   781  PSVQNFSNPH EPWNRLHRTP PSFPTPPPWL KPGELERSAS AAAHDRDRDV DKRDSSVSKD
   841  DKERESVEKR HSSHPSPAPV LPVNALGHTR SSTEQIRAHL NTEAREKDKP KERERDHSES
   901  RKDLAADEHK AKEGHLPEKD GHGHEGRAAG EEAKQLARVP SPYVRTPVVE SARPNSTSSR
   961  EAEPRKGEPA YENPKKSSEV KVKEERKEDH DLPPEAPQTH RASEPPPPNS SSSVHPGPLA
  1021  SMPMTVGVTG IHPMNSISSL DRTRMMTPFM GISPLPGGER FPYPSFHWDP IRDPLRDPYR
  1081  ELDIHRRDPL GRDFLLRNDP LHRLSTPRLY EADRSFRDRE PHDYSHHHHH HHHPLSVDPR
  1141  REHERGGHLD ERERLHMLRE DYEHTRLHSV HPASLDGHLP HPSLITPGLP SMHYPRISPT
  1201  AGNQNGLLNK TPPTAALSAP PPLISTLGGR PVSPRRTTPL SAEIRERPPS HTLKDIEAR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AUTS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.65
Highest tissue expression: 45 nTPM

Expression across tissuesHPA

Tissue

salivary gland: 45 nTPM
skin: 26 nTPM
liver: 23 nTPM
skeletal muscle: 20 nTPM
basal ganglia: 20 nTPM
blood vessel: 20 nTPM

Single-cell type

retinal horizontal cells: 3,440 nCPM
lactotrophs: 2,233 nCPM
corticotrophs: 2,210 nCPM
retinal amacrine cells: 2,094 nCPM
somatotrophs: 1,998 nCPM
thyrotrophs: 1,897 nCPM

Immune cell

naive B-cell: 9.3 nTPM
memory B-cell: 8 nTPM
plasmacytoid DC: 2.8 nTPM
MAIT T-cell: 1.9 nTPM
NK-cell: 1.5 nTPM
gdT-cell: 1.4 nTPM

Brain region

amygdala: 171 nTPM
medulla oblongata: 155 nTPM
basal ganglia: 152 nTPM
thalamus: 147 nTPM
hypothalamus: 132 nTPM
midbrain: 122 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AUTS2.

Disease | AllUniProt

Conditions AUTS2 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 26 (MRD26) MIM:615834

Disease | GeneticClinVar

111 pathogenic / likely-pathogenic of 1,313 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autism spectrum disorder due to AUTS2 deficiency
Inborn genetic diseases
Intellectual disability
AUTS2-related disorder
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Disease | ImmuneIEDB

Conditions an epitope on AUTS2 was assayed in.

narcolepsy B cell
multiple sclerosis B cell
peripheral nervous system disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.25
gnomAD pLI: 1
gnomAD missense Z: 2.22
DepMap mean gene effect: 0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

chromatin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AUTS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AUTS2 as an antibody target. Whether an autoantibody or antibody against AUTS2 could matter depends on whether native AUTS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AUTS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AUTS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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