Entity Details

Primary name AUTS2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WXX7
EntryNameAUTS2_HUMAN
FullNameAutism susceptibility gene 2 protein
TaxID9606
Evidenceevidence at protein level
Length1259
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-06-02

Ontological Relatives

GenesAUTS2

GO terms

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GOName
GO:0001764 neuron migration
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0010592 positive regulation of lamellipodium assembly
GO:0030426 growth cone
GO:0031532 actin cytoskeleton reorganization
GO:0035022 positive regulation of Rac protein signal transduction
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048675 axon extension
GO:0051571 positive regulation of histone H3-K4 methylation
GO:0097484 dendrite extension
GO:2000620 positive regulation of histone H4-K16 acetylation

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR023246 Autism susceptibility gene 2 proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
615834 OMIMMental retardation, autosomal dominant 26 (MRD26)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions