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    Astn2 astrotactin 2 [ Mus musculus (house mouse) ]

    Gene ID: 56079, updated on 2-Nov-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; endosome; and 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, Nov 2024]
    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 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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    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 calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    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 inositol 1,3,4,5 tetrakisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of protein localization to cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome 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 
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  

    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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