help  | about  | cite  | software

Gene : AUTS2 Homo sapiens

Name  ? activator of transcription and developmental regulator AUTS2 Cytological Location  7q11.22
Brief Description  activator of transcription and developmental regulator AUTS2
Description  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]
  • synonyms:
  • NM_001127231,
  • AUTS2,
  • KIAA0442,
  • uc003tvw.5,
  • FBRSL2,
  • autism susceptibility candidate 2,
  • OTTHUMG00000023865,
  • HGNC:14262,
  • MRD26,
  • FBRSL2,
  • AF326917
  • identifiers:
  • 26053,
  • ENSG00000158321,
  • AUTS2

Genome feature

Region: gene ? Length: 1195032  
Location: 7:69598475-70793506 Cyto location: 7q11.22


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

630 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results