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

Gene ID: 114928, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (102712448..102717733)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (101157397..101162682)
105.20220307 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 (54) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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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