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

Gene ID: 26053, updated on 20-Dec-2019

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
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

Genomic context

See AUTS2 in Genome Data Viewer
Location:
7q11.22
Exon count:
23
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (69598475..70793506)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (69063905..70257885)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375346 Neighboring gene cancer/testis associated transcript 66 Neighboring gene VISTA enhancer hs2315 Neighboring gene VISTA enhancer hs1660 Neighboring gene VISTA enhancer hs1425 Neighboring gene VISTA enhancer hs2316 Neighboring gene heart enhancer 21 Neighboring gene VISTA enhancer hs658 Neighboring gene VISTA enhancer hs2317 Neighboring gene VISTA enhancer hs2318 Neighboring gene VISTA enhancer hs925 Neighboring gene uncharacterized LOC107986708 Neighboring gene uncharacterized LOC107986709 Neighboring gene uncharacterized LOC105375347 Neighboring gene neuroepithelial cell transforming 1 pseudogene Neighboring gene polypeptide N-acetylgalactosaminyltransferase 17 Neighboring gene microRNA 3914-1 Neighboring gene microRNA 3914-2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal dominant 26
MedGen: C4014435 OMIM: 615834 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-11-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-11-06)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0442, MGC13140

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
axon extension ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite extension ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Rac protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of histone H3-K4 methylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of lamellipodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
cellular_component ND
No biological Data available
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_034133.1 RefSeqGene

    Range
    4557..1199588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127231.3NP_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:322383
    FAM75; FAM75 family
    pfam15336
    Location:621833
    Auts2; Autism susceptibility gene 2 protein
  2. NM_001127232.3NP_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
  3. NM_015570.4NP_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
    Q8WXX7
    Related
    ENSP00000344087.4, ENST00000342771.10
    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:645857
    Auts2; Autism susceptibility gene 2 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    69598475..70793506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011951.2XP_016867440.1  autism susceptibility gene 2 protein isoform X9

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

    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:652864
    Auts2; Autism susceptibility gene 2 protein
  3. XM_011516013.2XP_011514315.1  autism susceptibility gene 2 protein isoform X4

    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:628840
    Auts2; Autism susceptibility gene 2 protein
  4. XM_011516014.2XP_011514316.1  autism susceptibility gene 2 protein isoform X5

    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:618830
    Auts2; Autism susceptibility gene 2 protein
  5. XM_011516012.2XP_011514314.1  autism susceptibility gene 2 protein isoform X3

    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:630842
    Auts2; Autism susceptibility gene 2 protein
  6. XM_011516011.2XP_011514313.1  autism susceptibility gene 2 protein isoform X2

    Related
    ENSP00000496726.1, ENST00000644939.1
    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:651863
    Auts2; Autism susceptibility gene 2 protein
  7. XM_011516018.2XP_011514320.1  autism susceptibility gene 2 protein isoform X7

    Related
    ENSP00000478134.1, ENST00000611706.4
    Conserved Domains (2) summary
    pfam14650
    Location:155216
    FAM75; FAM75 family
    pfam15336
    Location:485697
    Auts2; Autism susceptibility gene 2 protein
  8. XM_011516017.2XP_011514319.1  autism susceptibility gene 2 protein isoform X6

    Conserved Domains (2) summary
    pfam14650
    Location:164225
    FAM75; FAM75 family
    pfam15336
    Location:494706
    Auts2; Autism susceptibility gene 2 protein
  9. XM_005250257.2XP_005250314.1  autism susceptibility gene 2 protein isoform X8

    Related
    ENSP00000496672.1, ENST00000644506.1
    Conserved Domains (1) summary
    pfam15336
    Location:194406
    Auts2; Autism susceptibility gene 2 protein
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