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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

    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

    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

    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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