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Auts2 autism susceptibility candidate 2 [ Mus musculus (house mouse) ]

Gene ID: 319974, updated on 12-May-2024

Summary

Official Symbol
Auts2provided by MGI
Official Full Name
autism susceptibility candidate 2provided by MGI
Primary source
MGI:MGI:1919847
See related
Ensembl:ENSMUSG00000029673 AllianceGenome:MGI:1919847
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2700063G02Rik; A730011F23Rik; D830032G16Rik
Summary
Predicted to enable chromatin binding activity. Involved in several processes, including generation of neurons; positive regulation of Rac protein signal transduction; and positive regulation of lamellipodium assembly. Acts upstream of or within innate vocalization behavior and righting reflex. Located in growth cone and nucleus. Colocalizes with actin cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study autosomal dominant non-syndromic intellectual disability and autosomal dominant non-syndromic intellectual disability 26. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 26. Orthologous to human AUTS2 (activator of transcription and developmental regulator AUTS2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E14 (RPKM 20.4), whole brain E14.5 (RPKM 18.2) and 21 other tissues See more
Orthologs
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Genomic context

See Auts2 in Genome Data Viewer
Location:
5 G2; 5 70.66 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (131466171..132572059, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (131437333..132543220, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 17 Neighboring gene STARR-seq mESC enhancer starr_14481 Neighboring gene predicted gene, 40338 Neighboring gene STARR-seq mESC enhancer starr_14482 Neighboring gene STARR-seq mESC enhancer starr_14484 Neighboring gene STARR-seq mESC enhancer starr_14488 Neighboring gene predicted gene, 29681 Neighboring gene STARR-seq mESC enhancer starr_14493 Neighboring gene STARR-seq mESC enhancer starr_14494 Neighboring gene STARR-seq mESC enhancer starr_14497 Neighboring gene predicted gene, 54306 Neighboring gene STARR-seq mESC enhancer starr_14498 Neighboring gene RIKEN cDNA 4930563F08 gene Neighboring gene STARR-seq mESC enhancer starr_14499 Neighboring gene VISTA enhancer mm131 Neighboring gene STARR-seq mESC enhancer starr_14500 Neighboring gene STARR-seq mESC enhancer starr_14501 Neighboring gene STARR-seq mESC enhancer starr_14502 Neighboring gene STARR-seq mESC enhancer starr_14503 Neighboring gene STARR-seq mESC enhancer starr_14504 Neighboring gene STARR-seq mESC enhancer starr_14505 Neighboring gene STARR-seq mESC enhancer starr_14506 Neighboring gene STARR-seq mESC enhancer starr_14507 Neighboring gene STARR-seq mESC enhancer starr_14508 Neighboring gene predicted gene, 36528 Neighboring gene predicted gene, 57743

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (7)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in growth cone IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
autism susceptibility gene 2 protein homolog

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.

mRNA and Protein(s)

  1. NM_001363480.1NP_001350409.1  autism susceptibility gene 2 protein homolog

    Status: VALIDATED

    Source sequence(s)
    AK052418, AK147478, BB621504, BB658109, BC058110, BC096021, CV557700
    UniProtKB/Swiss-Prot
    A0A087WPF7, E9PWJ4, Q6ZQB3, Q8BWI6
    UniProtKB/TrEMBL
    A0A7N9VSJ5
    Related
    ENSMUSP00000159434.2, ENSMUST00000161226.11
    Conserved Domains (2) summary
    pfam15336
    Location:650842
    Auts2; Autism susceptibility gene 2 protein
    cl25764
    Location:297490
    PAT1; Topoisomerase II-associated protein PAT1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    131466171..132572059 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)