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Astn2 astrotactin 2 [ Mus musculus (house mouse) ]

Gene ID: 56079, updated on 11-Apr-2024

Summary

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Official Symbol
Astn2provided by MGI
Official Full Name
astrotactin 2provided by MGI
Primary source
MGI:MGI:1889277
See related
Ensembl:ENSMUSG00000028373 AllianceGenome:MGI:1889277
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
1d8; Astnl; bM452J22.1
Summary
Predicted to enable calcium ion binding activity and inositol 1,3,4,5 tetrakisphosphate binding activity. Acts upstream of or within establishment of body hair planar orientation and negative regulation of protein localization to cell surface. Located in cell pole and endosome. Is integral component of membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; respiratory system; sensory organ; and skin. Orthologous to human ASTN2 (astrotactin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cerebellum adult (RPKM 12.4), cortex adult (RPKM 4.1) and 12 other tissues See more
Orthologs
human all
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Genomic context

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See Astn2 in Genome Data Viewer
Location:
4 C1; 4 34.31 cM
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (65299040..66322774, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (65380803..66404537, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_10458 Neighboring gene predicted gene 11218 Neighboring gene STARR-seq mESC enhancer starr_10459 Neighboring gene STARR-seq mESC enhancer starr_10460 Neighboring gene VISTA enhancer mm774 Neighboring gene pregnancy-associated plasma protein A Neighboring gene STARR-seq mESC enhancer starr_10462 Neighboring gene STARR-seq mESC enhancer starr_10463 Neighboring gene STARR-seq mESC enhancer starr_10465 Neighboring gene STARR-seq mESC enhancer starr_10466 Neighboring gene STARR-seq mESC enhancer starr_10467 Neighboring gene predicted gene, 31533 Neighboring gene tripartite motif-containing 32 Neighboring gene STARR-seq mESC enhancer starr_10468 Neighboring gene STARR-seq mESC enhancer starr_10469 Neighboring gene STARR-seq mESC enhancer starr_10470 Neighboring gene STARR-seq mESC enhancer starr_10471 Neighboring gene STARR-seq mESC enhancer starr_10472 Neighboring gene STARR-seq mESC enhancer starr_10473 Neighboring gene STARR-seq mESC enhancer starr_10474 Neighboring gene STARR-seq mESC enhancer starr_10475 Neighboring gene STARR-seq mESC enhancer starr_10476 Neighboring gene STARR-seq mESC enhancer starr_10478 Neighboring gene predicted gene, 25480 Neighboring gene STARR-seq mESC enhancer starr_10480 Neighboring gene STARR-seq mESC enhancer starr_10481 Neighboring gene predicted gene 11220

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Intramembrane Proteolysis of Astrotactins. Chang H, et al. J Biol Chem, 2017 Feb 24. PMID 28100779, Free PMC Article
  2. Murine astrotactins 1 and 2 have a similar membrane topology and mature via endoproteolytic cleavage catalyzed by a signal peptidase. Lara P, et al. J Biol Chem, 2019 Mar 22. PMID 30696770, Free PMC Article
  3. Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4). Qureshi ST, et al. J Exp Med, 1999 Feb 15. PMID 9989976, Free PMC Article
  4. Astn2, a novel member of the astrotactin gene family, regulates the trafficking of ASTN1 during glial-guided neuronal migration. Wilson PM, et al. J Neurosci, 2010 Jun 23. PMID 20573900, Free PMC Article
  5. Identification of Astrotactin2 as a Genetic Modifier That Regulates the Global Orientation of Mammalian Hair Follicles. Chang H, et al. PLoS Genet, 2015. PMID 26418459, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Astrotactin 2 (ASTN2) regulates emotional and cognitive functions by affecting neuronal morphogenesis and monoaminergic systems.
    Title: Astrotactin 2 (ASTN2) regulates emotional and cognitive functions by affecting neuronal morphogenesis and monoaminergic systems.
  2. Differences in the degree of Astn1 and Astn2 maturation possibly contribute to the higher levels of the C-terminal domain of Astn1 detected on neuronal membranes of the central nervous system
    Title: Murine astrotactins 1 and 2 have a similar membrane topology and mature via endoproteolytic cleavage catalyzed by a signal peptidase.
  3. This study has defined the transmembrane topology of mouse Astn2 and shown that this protein undergoes a single intramembrane proteolytic cleavage in the second of two transmembrane segments.
    Title: Intramembrane Proteolysis of Astrotactins.
  4. These experiments suggest that Astn2, an endosomal membrane protein, modulates Planar cell polarity signaling.
    Title: Identification of Astrotactin2 as a Genetic Modifier That Regulates the Global Orientation of Mammalian Hair Follicles.
  5. ASTN2 regulates the levels of ASTN1 in the plasma membrane and that the release of neuronal adhesions to the glial fiber during neuronal locomotion involves the intracellular trafficking of ASTN1.
    Title: Astn2, a novel member of the astrotactin gene family, regulates the trafficking of ASTN1 during glial-guided neuronal migration.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables inositol 1,3,4,5 tetrakisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables inositol 1,3,4,5 tetrakisphosphate binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within establishment of body hair planar orientation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within negative regulation of protein localization to cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuron cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of protein localization to cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell pole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
astrotactin-2
Names
bM243L4.1 (astrotactin 2)
bM264P11.1 (astrotactin 2)
bM383P24.1 (astrotactin 2)
bM423P8.1 (astrotactin 2)
bM468K2.1 (astrotactin 2)

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_019514.3 → NP_062387.2  astrotactin-2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an alternate segment in the 5' coding region, compared to variant 2. The resulting protein (isoform a) has a shorter N-terminus when compared to isoform b.
    Source sequence(s)
    AL691438, AL691454, AL691456, AL691474, AL691475, AL713878, AL731829
    Consensus CDS
    CCDS18268.1
    UniProtKB/Swiss-Prot
    Q80Z10
    Related
    ENSMUSP00000081540.3, ENSMUST00000084496.3
    Conserved Domains (3) summary
    smart00457
    Location:813 → 996
    MACPF; membrane-attack complex / perforin
    cd00063
    Location:1027 → 1149
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam14670
    Location:664 → 711
    FXa_inhibition; Coagulation Factor Xa inhibitory site

  2. NM_207109.2 → NP_996992.1  astrotactin-2 isoform b precursor

    See identical proteins and their annotated locations for NP_996992.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and it encodes the longer isoform (b). Isoform b is most similar to the protein encoded by transcript variant 3 of the human gene.
    Source sequence(s)
    AL691438, AL691454, AL691456, AL691474, AL691475, AL713878, AL731829
    Consensus CDS
    CCDS18269.1
    UniProtKB/Swiss-Prot
    E9Q8T4, Q6A031, Q80Z10, Q811X9, Q811Y0, Q811Y1, Q811Y2
    Related
    ENSMUSP00000065786.5, ENSMUST00000068214.11
    Conserved Domains (3) summary
    smart00457
    Location:865 → 1048
    MACPF; membrane-attack complex / perforin
    cd00063
    Location:1079 → 1201
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam14670
    Location:716 → 763
    FXa_inhibition; Coagulation Factor Xa inhibitory site

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_000070.7 Reference GRCm39 C57BL/6J

    Range
    65299040..66322774 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030253680.2 → XP_030109540.1  astrotactin-2 isoform X2

    Conserved Domains (5) summary
    smart00457
    Location:809 → 992
    MACPF; membrane-attack complex / perforin
    cd00063
    Location:1023 → 1145
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam14670
    Location:660 → 707
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    pfam18411
    Location:1147 → 1239
    Annexin_like; Annexin-like domain
    pfam18577
    Location:1243 → 1289
    ASTN_2_hairpin; Astrotactin-2 C-terminal beta-hairpin domain

  2. XM_006538104.4 → XP_006538167.1  astrotactin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q80Z10
    Conserved Domains (5) summary
    smart00457
    Location:861 → 1044
    MACPF; membrane-attack complex / perforin
    cd00063
    Location:1075 → 1197
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam14670
    Location:712 → 759
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    pfam18411
    Location:1199 → 1291
    Annexin_like; Annexin-like domain
    pfam18577
    Location:1295 → 1341
    ASTN_2_hairpin; Astrotactin-2 C-terminal beta-hairpin domain

  3. XM_006538105.5 → XP_006538168.1  astrotactin-2 isoform X3

    Conserved Domains (2) summary
    pfam14670
    Location:716 → 763
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl02616
    Location:865 → 951
    MACPF; MAC/Perforin domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80Z10.2 GenPept UniProtKB/Swiss-Prot:Q80Z10

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