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    Gprasp2 G protein-coupled receptor associated sorting protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 245607, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gprasp2provided by MGI
    Official Full Name
    G protein-coupled receptor associated sorting protein 2provided by MGI
    Primary source
    MGI:MGI:2442071
    See related
    Ensembl:ENSMUSG00000072966 AllianceGenome:MGI:2442071
    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
    GASP2; Prpl5; GASP-2; 5330440H13Rik
    Summary
    Enables amyloid-beta binding activity. Acts upstream of or within hematopoietic stem cell homeostasis. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. Is expressed in central nervous system and neural retina. Used to study autism spectrum disorder and intellectual disability. Human ortholog(s) of this gene implicated in X-linked deafness 7. Orthologous to several human genes including GPRASP2 (G protein-coupled receptor associated sorting protein 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in CNS E18 (RPKM 45.0), CNS E14 (RPKM 31.3) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gprasp2 in Genome Data Viewer
    Location:
    X F1; X 57.3 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (134739786..134745480)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (135839034..135844730)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor associated sorting protein 1 Neighboring gene RAB18, member RAS oncogene family pseudogene Neighboring gene microRNA 1970 Neighboring gene STARR-seq mESC enhancer starr_47971 Neighboring gene basic helix-loop-helix domain containing, class B9 Neighboring gene STARR-seq mESC enhancer starr_47972 Neighboring gene predicted gene, 31214 Neighboring gene adipocyte-related X-chromosome expressed sequence 2

    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. Disruption of Gprasp2 down-regulates Hedgehog signaling and leads to apoptosis in auditory cells. Lu Y, et al. Biochem Biophys Res Commun, 2021 Oct 15. PMID 34418635
    2. Maternal behaviours disrupted by Gprasp2 deletion modulate neurodevelopmental trajectory in progeny. Pereira MI, et al. Sci Rep, 2024 May 31. PMID 38816497, Free PMC Article
    3. Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome. Zhou J, et al. Hum Mol Genet, 2014 Jul 15. PMID 24569167, Free PMC Article
    4. Abnormal mGluR-mediated synaptic plasticity and autism-like behaviours in Gprasp2 mutant mice. Edfawy M, et al. Nat Commun, 2019 Mar 29. PMID 30926797, Free PMC Article
    5. Alternative binding modes identified for growth and differentiation factor-associated serum protein (GASP) family antagonism of myostatin. Walker RG, et al. J Biol Chem, 2015 Mar 20. PMID 25657005, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Maternal behaviours disrupted by Gprasp2 deletion modulate neurodevelopmental trajectory in progeny.
      Title: Maternal behaviours disrupted by Gprasp2 deletion modulate neurodevelopmental trajectory in progeny.
    2. Disruption of Gprasp2 down-regulates Hedgehog signaling and leads to apoptosis in auditory cells.
      Title: Disruption of Gprasp2 down-regulates Hedgehog signaling and leads to apoptosis in auditory cells.
    3. GPRASP proteins are critical negative regulators of hematopoietic stem cell transplantation.
      Title: GPRASP proteins are critical negative regulators of hematopoietic stem cell transplantation.
    4. Manipulating the levels of Gprasp2 bidirectionally modulates the surface availability of mGluR5 and produces alterations in dendritic complexity, spine density and synaptic maturation.
      Title: Abnormal mGluR-mediated synaptic plasticity and autism-like behaviours in Gprasp2 mutant mice.
    5. Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation.
      Title: Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation.
    6. present the First low resolution solution structure of myostatin-free and myostatin-bound states of GASP-1 and GASP-2
      Title: Alternative binding modes identified for growth and differentiation factor-associated serum protein (GASP) family antagonism of myostatin.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables amyloid-beta binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within hematopoietic stem cell homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    G-protein coupled receptor-associated sorting protein 2
    Names
    prion protein ligand 5

    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_001163015.2 → NP_001156487.1  G-protein coupled receptor-associated sorting protein 2

      See identical proteins and their annotated locations for NP_001156487.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL683822
      Consensus CDS
      CCDS53191.1
      UniProtKB/Swiss-Prot
      Q148X7, Q8BUY8
      Related
      ENSMUSP00000134666.2, ENSMUST00000173804.8
      Conserved Domains (1) summary
      pfam04826
      Location:579 → 823
      Arm_2; Armadillo-like

    2. NM_001163016.2 → NP_001156488.1  G-protein coupled receptor-associated sorting protein 2

      See identical proteins and their annotated locations for NP_001156488.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL683822
      Consensus CDS
      CCDS53191.1
      UniProtKB/Swiss-Prot
      Q148X7, Q8BUY8
      Related
      ENSMUSP00000108761.2, ENSMUST00000113136.8
      Conserved Domains (1) summary
      pfam04826
      Location:579 → 823
      Arm_2; Armadillo-like

    3. NM_001163017.2 → NP_001156489.1  G-protein coupled receptor-associated sorting protein 2

      See identical proteins and their annotated locations for NP_001156489.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL683822
      Consensus CDS
      CCDS53191.1
      UniProtKB/Swiss-Prot
      Q148X7, Q8BUY8
      Conserved Domains (1) summary
      pfam04826
      Location:579 → 823
      Arm_2; Armadillo-like

    4. NM_001359371.2 → NP_001346300.1  G-protein coupled receptor-associated sorting protein 2

      Status: VALIDATED

      Source sequence(s)
      AL683822
      Consensus CDS
      CCDS53191.1
      UniProtKB/Swiss-Prot
      Q148X7, Q8BUY8
      Conserved Domains (1) summary
      pfam04826
      Location:579 → 823
      Arm_2; Armadillo-like

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      134739786..134745480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251343.1 → XP_030107203.1  G-protein coupled receptor-associated sorting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q148X7, Q8BUY8
      Conserved Domains (1) summary
      pfam04826
      Location:579 → 823
      Arm_2; Armadillo-like

    2. XM_036161961.1 → XP_036017854.1  G-protein coupled receptor-associated sorting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q148X7, Q8BUY8
      Conserved Domains (1) summary
      pfam04826
      Location:579 → 823
      Arm_2; Armadillo-like

    3. XM_036161962.1 → XP_036017855.1  G-protein coupled receptor-associated sorting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q148X7, Q8BUY8
      Conserved Domains (1) summary
      pfam04826
      Location:579 → 823
      Arm_2; Armadillo-like

    4. XM_030251342.1 → XP_030107202.1  G-protein coupled receptor-associated sorting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q148X7, Q8BUY8
      Conserved Domains (1) summary
      pfam04826
      Location:579 → 823
      Arm_2; Armadillo-like
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BUY8.2 GenPept UniProtKB/Swiss-Prot:Q8BUY8

    Gene LinkOut

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