AUTS2 activator of transcription and developmental regulator AUTS2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AUTS2provided by HGNC
Official Full Name: activator of transcription and developmental regulator AUTS2provided by HGNC
Primary source: HGNC:HGNC:14262
See related: Ensembl:ENSG00000158321 MIM:607270; AllianceGenome:HGNC:14262
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRD26; FBRSL2
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]
Expression: Ubiquitous expression in salivary gland (RPKM 2.5), skin (RPKM 2.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.22

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (69598475..70793506)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (70821258..72017159)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (69063461..70258492)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/beta-catenin pathway.
Title: AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/β-catenin pathway.
Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies.
Title: Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies.
Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene.
Title: Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene.
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Title: Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.
Title: Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Title: Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Title: NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Germ cell mosaicism for AUTS2 exon 6 deletion.
Title: Germ cell mosaicism for AUTS2 exon 6 deletion.
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Title: Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Effect of AUTS2 gene rs6943555 variant in male patients with schizophrenia in a Turkish population.
Title: Effect of AUTS2 gene rs6943555 variant in male patients with schizophrenia in a Turkish population.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autism spectrum disorder due to AUTS2 deficiency MedGen: C4014435 OMIM: 615834 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-06-24) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:1317414 (e-PCR)
- UniSTS:9990

GDB:1317898 (e-PCR)
- UniSTS:11014

D7S2261 (e-PCR)
- UniSTS:153614

STS-H09325 (e-PCR)
- UniSTS:2067

RH120408 (e-PCR)
- UniSTS:133403

D7S2099E (e-PCR)
- UniSTS:18975

SHGC-56083 (e-PCR)
- UniSTS:83237

SHGC-34763 (e-PCR)
- UniSTS:39973

RH121701 (e-PCR)
- UniSTS:134440

RH91774 (e-PCR)
- UniSTS:89129

D7S1832 (e-PCR)
- UniSTS:20780

D7S1387 (e-PCR)
- UniSTS:27182

WI-21487 (e-PCR)
- UniSTS:24370

D7S2500 (e-PCR)
- UniSTS:81205

SHGC-56084 (e-PCR)
- UniSTS:17464

AUTS2__4408 (e-PCR)
- UniSTS:471356

RH36552 (e-PCR)
- UniSTS:70721

D7S2385E (e-PCR)
- UniSTS:20290

SHGC-84879 (e-PCR)
- UniSTS:104775

GDB:4585587 (e-PCR)
- UniSTS:58187

SHGC-151009 (e-PCR)
- UniSTS:173653

RH120213 (e-PCR)
- UniSTS:133206

RH66649 (e-PCR)
- UniSTS:4696

SHGC-79069 (e-PCR)
- UniSTS:95838

D7S1997 (e-PCR)
- UniSTS:25698

D7S1677 (e-PCR)
- UniSTS:54633

RH48631 (e-PCR)
- UniSTS:59243

RH121342 (e-PCR)
- UniSTS:138605

D7S645 (e-PCR), detects polymorphism
- UniSTS:57711

GDB:4585286 (e-PCR)
- UniSTS:61041

GDB:1317678 (e-PCR)
- UniSTS:67187

RH35891 (e-PCR)
- UniSTS:20852

D7S769 (e-PCR)
- UniSTS:22140

GDB:1317946 (e-PCR)
- UniSTS:38018

D7S2803 (e-PCR)
- UniSTS:38530

RH68955 (e-PCR)
- UniSTS:74629

RH123190 (e-PCR)
- UniSTS:135571

1164 (e-PCR)
- UniSTS:33689

1590 (e-PCR)
- UniSTS:26020

D7S1832 (e-PCR)
- UniSTS:49575

GDB:1317778 (e-PCR)
- UniSTS:3517

RH36141 (e-PCR)
- UniSTS:70852

GDB:4584965 (e-PCR)
- UniSTS:39115

GDB:3754301 (e-PCR)
- UniSTS:64972

GDB:1317394 (e-PCR)
- UniSTS:62157

D7S726 (e-PCR)
- UniSTS:13262

WI-11330 (e-PCR)
- UniSTS:60116

SHGC-110082 (e-PCR)
- UniSTS:170201

GDB:3754413 (e-PCR)
- UniSTS:41177

STS-AA019937 (e-PCR)
- UniSTS:31963

D7S2435 (e-PCR), detects polymorphism
- UniSTS:31456

SHGC-84538 (e-PCR)
- UniSTS:102881

SHGC-153479 (e-PCR)
- UniSTS:184546

GDB:1318665 (e-PCR)
- UniSTS:33003

D7S645 (e-PCR), detects polymorphism
- UniSTS:48110

GDB:4585727 (e-PCR)
- UniSTS:81648

GDB:4585349 (e-PCR)
- UniSTS:62709

D7S2798 (e-PCR)
- UniSTS:6653

D7S2500 (e-PCR)
- UniSTS:82943

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon extension	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendrite extension	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Rac protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of lamellipodium assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: autism susceptibility gene 2 protein

Names: AUTS2, activator of transcription and developmental regulator; autism susceptibility candidate 2; autism-related protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034133.1 RefSeqGene

Range

4557..1199588

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127231.3 → NP_001120703.1 autism susceptibility gene 2 protein isoform 2

See identical proteins and their annotated locations for NP_001120703.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

AC006012, AC073873, AF326917, AW972135, BC064693, CA450113

Consensus CDS

CCDS47601.1

UniProtKB/Swiss-Prot

Q8WXX7

Related

ENSP00000385263.2, ENST00000406775.6

Conserved Domains (2) summary

pfam14650
Location:322 → 383

FAM75; FAM75 family

pfam15336
Location:621 → 833

Auts2; Autism susceptibility gene 2 protein
NM_001127232.3 → NP_001120704.1 autism susceptibility gene 2 protein isoform 3

See identical proteins and their annotated locations for NP_001120704.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC006012, AC073148, BC011643, BC064693, BG208279

Consensus CDS

CCDS47602.1

UniProtKB/Swiss-Prot

Q8WXX7

Related

ENSP00000385572.2, ENST00000403018.3
NM_015570.4 → NP_056385.1 autism susceptibility gene 2 protein isoform 1

See identical proteins and their annotated locations for NP_056385.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC006012, AC073873, AF326917, AW972135, BC064693, CA450113

Consensus CDS

CCDS5539.1

UniProtKB/Swiss-Prot

A4D1Y9, L7QET3, L7QF75, Q5D049, Q6PJU5, Q8WXX7, Q9Y4F2

UniProtKB/TrEMBL

Q75MD7

Related

ENSP00000344087.4, ENST00000342771.10

Conserved Domains (2) summary

pfam14650
Location:322 → 383

FAM75; FAM75 family

pfam15336
Location:645 → 857

Auts2; Autism susceptibility gene 2 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

69598475..70793506

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516010.3 → XP_011514312.1 autism susceptibility gene 2 protein isoform X1

Conserved Domains (2) summary

pfam14650
Location:322 → 383

FAM75; FAM75 family

pfam15336
Location:652 → 864

Auts2; Autism susceptibility gene 2 protein
XM_011516013.3 → XP_011514315.1 autism susceptibility gene 2 protein isoform X6

Conserved Domains (2) summary

pfam14650
Location:322 → 383

FAM75; FAM75 family

pfam15336
Location:628 → 840

Auts2; Autism susceptibility gene 2 protein
XM_011516014.3 → XP_011514316.1 autism susceptibility gene 2 protein isoform X8

Conserved Domains (2) summary

pfam14650
Location:322 → 383

FAM75; FAM75 family

pfam15336
Location:618 → 830

Auts2; Autism susceptibility gene 2 protein
XM_047420157.1 → XP_047276113.1 autism susceptibility gene 2 protein isoform X9
XM_011516012.3 → XP_011514314.1 autism susceptibility gene 2 protein isoform X4

UniProtKB/TrEMBL

Q75MD7

Conserved Domains (2) summary

pfam14650
Location:322 → 383

FAM75; FAM75 family

pfam15336
Location:630 → 842

Auts2; Autism susceptibility gene 2 protein
XM_047420159.1 → XP_047276115.1 autism susceptibility gene 2 protein isoform X11
XM_047420161.1 → XP_047276117.1 autism susceptibility gene 2 protein isoform X13
XM_011516011.3 → XP_011514313.1 autism susceptibility gene 2 protein isoform X2

Conserved Domains (2) summary

pfam14650
Location:322 → 383

FAM75; FAM75 family

pfam15336
Location:651 → 863

Auts2; Autism susceptibility gene 2 protein
XM_047420154.1 → XP_047276110.1 autism susceptibility gene 2 protein isoform X3

UniProtKB/TrEMBL

A0A2R8Y8C6

Related

ENSP00000496726.1, ENST00000644939.1
XM_047420156.1 → XP_047276112.1 autism susceptibility gene 2 protein isoform X7
XM_047420158.1 → XP_047276114.1 autism susceptibility gene 2 protein isoform X10
XM_047420155.1 → XP_047276111.1 autism susceptibility gene 2 protein isoform X5
XM_047420160.1 → XP_047276116.1 autism susceptibility gene 2 protein isoform X12
XM_047420162.1 → XP_047276118.1 autism susceptibility gene 2 protein isoform X14
XM_047420166.1 → XP_047276122.1 autism susceptibility gene 2 protein isoform X19
XM_047420167.1 → XP_047276123.1 autism susceptibility gene 2 protein isoform X19
XM_047420168.1 → XP_047276124.1 autism susceptibility gene 2 protein isoform X19
XM_011516018.3 → XP_011514320.1 autism susceptibility gene 2 protein isoform X21

UniProtKB/TrEMBL

Q75MD7

Conserved Domains (2) summary

pfam14650
Location:155 → 216

FAM75; FAM75 family

pfam15336
Location:485 → 697

Auts2; Autism susceptibility gene 2 protein
XM_011516017.3 → XP_011514319.1 autism susceptibility gene 2 protein isoform X15

UniProtKB/TrEMBL

Q75MD7

Conserved Domains (2) summary

pfam14650
Location:164 → 225

FAM75; FAM75 family

pfam15336
Location:494 → 706

Auts2; Autism susceptibility gene 2 protein
XM_047420164.1 → XP_047276120.1 autism susceptibility gene 2 protein isoform X17

Related

ENSP00000478134.1, ENST00000611706.4
XM_047420163.1 → XP_047276119.1 autism susceptibility gene 2 protein isoform X16
XM_047420169.1 → XP_047276125.1 autism susceptibility gene 2 protein isoform X20
XM_047420165.1 → XP_047276121.1 autism susceptibility gene 2 protein isoform X18
XM_047420171.1 → XP_047276127.1 autism susceptibility gene 2 protein isoform X23

UniProtKB/TrEMBL

A0A024RDL5

Related

ENSP00000496672.1, ENST00000644506.1
XM_047420170.1 → XP_047276126.1 autism susceptibility gene 2 protein isoform X23

UniProtKB/TrEMBL

A0A024RDL5

Related

ENSP00000494561.1, ENST00000644359.1
XM_005250257.3 → XP_005250314.1 autism susceptibility gene 2 protein isoform X22

UniProtKB/TrEMBL

A0A2R8Y568

Related

ENSP00000494226.1, ENST00000647140.1

Conserved Domains (1) summary

pfam15336
Location:194 → 406

Auts2; Autism susceptibility gene 2 protein

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

70821258..72017159

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054357813.1 → XP_054213788.1 autism susceptibility gene 2 protein isoform X1
XM_054357818.1 → XP_054213793.1 autism susceptibility gene 2 protein isoform X6
XM_054357820.1 → XP_054213795.1 autism susceptibility gene 2 protein isoform X8
XM_054357821.1 → XP_054213796.1 autism susceptibility gene 2 protein isoform X9
XM_054357816.1 → XP_054213791.1 autism susceptibility gene 2 protein isoform X4
XM_054357823.1 → XP_054213798.1 autism susceptibility gene 2 protein isoform X11
XM_054357825.1 → XP_054213800.1 autism susceptibility gene 2 protein isoform X13
XM_054357814.1 → XP_054213789.1 autism susceptibility gene 2 protein isoform X2
XM_054357815.1 → XP_054213790.1 autism susceptibility gene 2 protein isoform X3

UniProtKB/TrEMBL

A0A2R8Y8C6
XM_054357819.1 → XP_054213794.1 autism susceptibility gene 2 protein isoform X7
XM_054357822.1 → XP_054213797.1 autism susceptibility gene 2 protein isoform X10
XM_054357817.1 → XP_054213792.1 autism susceptibility gene 2 protein isoform X5
XM_054357824.1 → XP_054213799.1 autism susceptibility gene 2 protein isoform X12
XM_054357826.1 → XP_054213801.1 autism susceptibility gene 2 protein isoform X14
XM_054357832.1 → XP_054213807.1 autism susceptibility gene 2 protein isoform X19
XM_054357833.1 → XP_054213808.1 autism susceptibility gene 2 protein isoform X19
XM_054357835.1 → XP_054213810.1 autism susceptibility gene 2 protein isoform X21
XM_054357831.1 → XP_054213806.1 autism susceptibility gene 2 protein isoform X19
XM_054357827.1 → XP_054213802.1 autism susceptibility gene 2 protein isoform X15
XM_054357829.1 → XP_054213804.1 autism susceptibility gene 2 protein isoform X17
XM_054357828.1 → XP_054213803.1 autism susceptibility gene 2 protein isoform X16
XM_054357834.1 → XP_054213809.1 autism susceptibility gene 2 protein isoform X20
XM_054357830.1 → XP_054213805.1 autism susceptibility gene 2 protein isoform X18
XM_054357836.1 → XP_054213811.1 autism susceptibility gene 2 protein isoform X22
XM_054357837.1 → XP_054213812.1 autism susceptibility gene 2 protein isoform X22
XM_054357838.1 → XP_054213813.1 autism susceptibility gene 2 protein isoform X22