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    GPRASP2 G protein-coupled receptor associated sorting protein 2 [ Homo sapiens (human) ]

    Gene ID: 114928, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GPRASP2provided by HGNC
    Official Full Name
    G protein-coupled receptor associated sorting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:25169
    See related
    Ensembl:ENSG00000158301 MIM:300969; AllianceGenome:HGNC:25169
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNX7; GASP2
    Summary
    The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
    Expression
    Broad expression in brain (RPKM 5.6), ovary (RPKM 5.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GPRASP2 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (102712448..102717733)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (101157397..101162682)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (101967376..101972661)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ARMCX5-GPRASP2 readthrough Neighboring gene RNA, U6 small nuclear 589, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29815 Neighboring gene BEN domain containing 7 pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:101988771-101989306 Neighboring gene G protein-coupled receptor associated sorting protein family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20919 Neighboring gene long intergenic non-protein coding RNA 630 Neighboring gene MT-ND1 pseudogene 32

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. Xing G, et al. J Med Genet, 2017 Jun. PMID 28096187, Free PMC Article
    2. Dynamic expression analysis of armc10, the homologous gene of human GPRASP2, in zebrafish embryos. Liu C, et al. Mol Med Rep, 2017 Nov. PMID 28849214, Free PMC Article
    3. Huntingtin interacts with the receptor sorting family protein GASP2. Horn SC, et al. J Neural Transm (Vienna), 2006 Aug. PMID 16835690
    4. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Piton A, et al. Mol Psychiatry, 2011 Aug. PMID 20479760, Free PMC Article
    5. Identification of a novel family of G protein-coupled receptor associated sorting proteins. Simonin F, et al. J Neurochem, 2004 May. PMID 15086532

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dynamic expression analysis of armc10, the homologous gene of human GPRASP2, in zebrafish embryos, has been reported.
      Title: Dynamic expression analysis of armc10, the homologous gene of human GPRASP2, in zebrafish embryos.
    2. A missense variation of GPRASP2 was first identified to be implicated in X-linked SHL.
      Title: GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
    4. that huntingtin protein and GASP2 form a complex in cotransfected mammalian cells
      Title: Huntingtin interacts with the receptor sorting family protein GASP2.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
    MedGen: C4746975 OMIM: 301018 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough ARMCX5-GPRASP2

    Readthrough gene: ARMCX5-GPRASP2, Included gene: GPRASP1, Included gene: ARMCX5, Included gene: GPRASP3, Included gene: LINC00630

    Homology

    Clone Names

    • FLJ35662, FLJ37327

    Gene Ontology Provided by GOA

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amyloid-beta binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    G-protein coupled receptor-associated sorting protein 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.

    Genomic

    1. NG_021322.1 RefSeqGene

      Range
      5120..10405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001004051.4 → NP_001004051.1  G-protein coupled receptor-associated sorting protein 2

      See identical proteins and their annotated locations for NP_001004051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.
      Source sequence(s)
      AK123832, AL522674, BC051707
      UniProtKB/Swiss-Prot
      D3DXA0, Q8NAB4, Q96D09
      UniProtKB/TrEMBL
      B3KW05
      Related
      ENSP00000507692.1, ENST00000483720.7
      Conserved Domains (2) summary
      pfam04826
      Location:593 → 837
      Arm_2; Armadillo-like
      cl26386
      Location:1 → 163
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    2. NM_001184874.3 → NP_001171803.1  G-protein coupled receptor-associated sorting protein 2

      See identical proteins and their annotated locations for NP_001171803.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. All five variants encode the same protein.
      Source sequence(s)
      AK123832, BC051707, DA389655
      UniProtKB/Swiss-Prot
      D3DXA0, Q8NAB4, Q96D09
      UniProtKB/TrEMBL
      B3KW05
      Related
      ENSP00000437872.1, ENST00000543253.6
      Conserved Domains (2) summary
      pfam04826
      Location:593 → 837
      Arm_2; Armadillo-like
      cl26386
      Location:1 → 163
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    3. NM_001184875.3 → NP_001171804.1  G-protein coupled receptor-associated sorting protein 2

      See identical proteins and their annotated locations for NP_001171804.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.
      Source sequence(s)
      AK123832, BC051707, DA231935
      UniProtKB/Swiss-Prot
      D3DXA0, Q8NAB4, Q96D09
      UniProtKB/TrEMBL
      B3KW05
      Related
      ENSP00000437394.1, ENST00000535209.6
      Conserved Domains (2) summary
      pfam04826
      Location:593 → 837
      Arm_2; Armadillo-like
      cl26386
      Location:1 → 163
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    4. NM_001184876.3 → NP_001171805.1  G-protein coupled receptor-associated sorting protein 2

      See identical proteins and their annotated locations for NP_001171805.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.
      Source sequence(s)
      AK123832, BC051707, DA776293
      UniProtKB/Swiss-Prot
      D3DXA0, Q8NAB4, Q96D09
      UniProtKB/TrEMBL
      B3KW05
      Related
      ENSP00000508139.1, ENST00000486814.2
      Conserved Domains (2) summary
      pfam04826
      Location:593 → 837
      Arm_2; Armadillo-like
      cl26386
      Location:1 → 163
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    5. NM_138437.6 → NP_612446.1  G-protein coupled receptor-associated sorting protein 2

      See identical proteins and their annotated locations for NP_612446.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. All five variants encode the same protein.
      Source sequence(s)
      AK123832, BC051707
      UniProtKB/Swiss-Prot
      D3DXA0, Q8NAB4, Q96D09
      UniProtKB/TrEMBL
      B3KW05
      Related
      ENSP00000339057.3, ENST00000332262.10
      Conserved Domains (2) summary
      pfam04826
      Location:593 → 837
      Arm_2; Armadillo-like
      cl26386
      Location:1 → 163
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      102712448..102717733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      101157397..101162682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96D09.1 GenPept UniProtKB/Swiss-Prot:Q96D09

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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