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

Gene ID: 26053, updated on 13-May-2022

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
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Genomic context

See AUTS2 in Genome Data Viewer
Location:
7q11.22
Exon count:
25
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (69598475..70793506)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (70821258..72017159)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (69063461..70258492)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375346 Neighboring gene Sharpr-MPRA regulatory region 1350 Neighboring gene Sharpr-MPRA regulatory region 8911 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 uncharacterized LOC124901669 Neighboring gene uncharacterized LOC124901668 Neighboring gene VISTA enhancer hs925 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
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
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
EBI GWAS 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
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 reorganization 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
 
acts_upstream_of_or_within positive regulation of histone H3-K4 methylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
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
 
is_active_in cellular_component ND
No biological Data available
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

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)

NEW Try the new Transcript table

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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011516010.3XP_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
  2. XM_011516013.3XP_011514315.1  autism susceptibility gene 2 protein isoform X6

    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:628840
    Auts2; Autism susceptibility gene 2 protein
  3. XM_011516014.3XP_011514316.1  autism susceptibility gene 2 protein isoform X8

    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:618830
    Auts2; Autism susceptibility gene 2 protein
  4. XM_047420157.1XP_047276113.1  autism susceptibility gene 2 protein isoform X9

  5. XM_011516012.3XP_011514314.1  autism susceptibility gene 2 protein isoform X4

    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:630842
    Auts2; Autism susceptibility gene 2 protein
  6. XM_047420159.1XP_047276115.1  autism susceptibility gene 2 protein isoform X11

  7. XM_047420161.1XP_047276117.1  autism susceptibility gene 2 protein isoform X13

  8. XM_011516011.3XP_011514313.1  autism susceptibility gene 2 protein isoform X2

    Conserved Domains (2) summary
    pfam14650
    Location:322383
    FAM75; FAM75 family
    pfam15336
    Location:651863
    Auts2; Autism susceptibility gene 2 protein
  9. XM_047420154.1XP_047276110.1  autism susceptibility gene 2 protein isoform X3

    Related
    ENSP00000496726.1, ENST00000644939.1
  10. XM_047420156.1XP_047276112.1  autism susceptibility gene 2 protein isoform X7

  11. XM_047420158.1XP_047276114.1  autism susceptibility gene 2 protein isoform X10

  12. XM_047420155.1XP_047276111.1  autism susceptibility gene 2 protein isoform X5

  13. XM_047420160.1XP_047276116.1  autism susceptibility gene 2 protein isoform X12

  14. XM_047420162.1XP_047276118.1  autism susceptibility gene 2 protein isoform X14

  15. XM_047420166.1XP_047276122.1  autism susceptibility gene 2 protein isoform X19

  16. XM_047420167.1XP_047276123.1  autism susceptibility gene 2 protein isoform X19

  17. XM_047420168.1XP_047276124.1  autism susceptibility gene 2 protein isoform X19

  18. XM_011516018.3XP_011514320.1  autism susceptibility gene 2 protein isoform X21

    Conserved Domains (2) summary
    pfam14650
    Location:155216
    FAM75; FAM75 family
    pfam15336
    Location:485697
    Auts2; Autism susceptibility gene 2 protein
  19. XM_011516017.3XP_011514319.1  autism susceptibility gene 2 protein isoform X15

    Conserved Domains (2) summary
    pfam14650
    Location:164225
    FAM75; FAM75 family
    pfam15336
    Location:494706
    Auts2; Autism susceptibility gene 2 protein
  20. XM_047420164.1XP_047276120.1  autism susceptibility gene 2 protein isoform X17

    Related
    ENSP00000478134.1, ENST00000611706.4
  21. XM_047420163.1XP_047276119.1  autism susceptibility gene 2 protein isoform X16

  22. XM_047420169.1XP_047276125.1  autism susceptibility gene 2 protein isoform X20

  23. XM_047420165.1XP_047276121.1  autism susceptibility gene 2 protein isoform X18

  24. XM_047420171.1XP_047276127.1  autism susceptibility gene 2 protein isoform X23

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

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

    Related
    ENSP00000494226.1, ENST00000647140.1
    Conserved Domains (1) summary
    pfam15336
    Location:194406
    Auts2; Autism susceptibility gene 2 protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    70821258..72017159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)