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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GPRASP2
G protein-coupled receptor associated sorting protein 2
Chromosome X Β· Xq22.1
NCBI Gene: 114928Ensembl: ENSG00000158301.21HGNC: HGNC:25169UniProt: B3KW05
61PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusG protein-coupled receptor bindingprotein bindingcytoplasmdeafnessosteoarthritis, kneeneurodegenerative diseaseosteoarthritis
✦AI Summary

GPRASP2 is an X-linked gene encoding a G protein-coupled receptor-associated sorting protein involved in regulating GPCR trafficking and stability. Its primary function involves controlling CXCR4 stability and cellular localization, critical for hematopoietic stem cell function and B-cell trafficking in germinal centers 12. GPRASP2 localizes to the cytoplasm and nucleus, binding GPCRs and interacting with trafficking machinery 3. Mechanistically, GPRASP2 participates in Hedgehog signaling through a Smoothened-GPRASP2-Pifo complex in primary cilia; GPRASP2 disruption downregulates key pathway components (Smo, Gli1, Gli2), triggering auditory cell apoptosis via mitochondrial damage 4. GPRASP2 is associated with X-linked deafness (SHL); mutations cause syndromic hearing loss with unique clinical features 5. The gene is also implicated in autism spectrum disorder, with genome-wide association identifying GPRASP2 among 17 X-linked ASD-associated genes 6. GPRASP2 deficiency in mice triggers B-cell lymphoproliferative disease resembling human aggressive lymphomas through aberrant GC accumulation and excessive somatic hypermutation 1. Expression patterns during early zebrafish development show enrichment in nervous system and otic structures, supporting its neurodevelopmental roles 7. Clinical significance includes potential therapeutic targets for enhancing hematopoietic transplantation and treating hedgehog-dependent cancers.

Sources cited
1
GPRASP2 identified among 17 X-linked genes associated with autism spectrum disorder in chromosome-wide association study
PMID: 39706197
2
Zebrafish armc10 (GPRASP2 ortholog) shows developmentally regulated expression in nervous system and otic structures
PMID: 28849214
3
GPRASP1 and GPRASP2 deficiency causes lymphoproliferative disease by affecting B-cell differentiation and CXCR4 stability; Gprasp-deficient mice develop aggressive B-cell lymphomas
PMID: 39479518
4
GPRASP2 disruption downregulates Hedgehog signaling pathway components and triggers apoptosis in auditory cells through Smoothened-GPRASP2 interactions
PMID: 34418635
5
GPRASP2 is member of GPRASP/ARMCX protein family; participates in Hedgehog signaling through Smoothened-GPRASP2-Pifo complex; GPRASP2 deletion causes neurodevelopmental alterations and autism-like behavior
PMID: 33267763
6
GPRASP2 missense mutation (c.1717_1718GC>AA) identified as first causal gene for X-linked recessive syndromic hearing loss
PMID: 28096187
7
GPRASP1 and GPRASP2 function as negative regulators of hematopoietic stem cell transplantation by promoting CXCR4 degradation
PMID: 32027737
8
GPRASP2 is one of seven morbid genes in Xq22.1-q22.3 deletion region; heterozygous deletion may be tolerated in females
PMID: 37217926
Disease Associationsβ“˜21
deafnessOpen Targets
0.58Moderate
osteoarthritis, kneeOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.21Weak
osteoarthritisOpen Targets
0.19Weak
medical procedureOpen Targets
0.17Weak
behavioral variant of frontotemporal dementiaOpen Targets
0.05Suggestive
Pick diseaseOpen Targets
0.04Suggestive
childhood disintegrative disorderOpen Targets
0.04Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
diffuse large B-cell lymphomaOpen Targets
0.03Suggestive
autismOpen Targets
0.03Suggestive
autism spectrum disorderOpen Targets
0.03Suggestive
amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
frontotemporal dementiaOpen Targets
0.03Suggestive
15q11q13 microduplication syndromeOpen Targets
0.03Suggestive
osteoarthritis, hipOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.03Suggestive
B-cell non-Hodgkins lymphomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
oculocerebrorenal syndromeOpen Targets
0.01Suggestive
Deafness, X-linked, 7UniProt
Pathogenic Variants2
NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)Likely pathogenic
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 788
NM_001004051.4(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn)Pathogenic
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 573
View on ClinVar β†—
Related Genes
TCF25Protein interaction99%ARMCX5Co-mentioned in literature40%GPRASP1Co-mentioned in literature30%ARMC10Co-mentioned in literature20%
Tissue Expression6 tissues
Brain
100%
Ovary
100%
Heart
71%
Liver
21%
Lung
10%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
GPRASP2TCF25ARMCX5GPRASP1ARMC10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96D09
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.47Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.28 [0.17–0.47]
RankingsWhere GPRASP2 stands among ~20K protein-coding genes
  • #7,558of 20,598
    Most Researched61
  • #4,402of 5,498
    Most Pathogenic Variants2
  • #2,711of 17,882
    Most Constrained (LOEUF)0.47 Β· top quartile
Genes detectedGPRASP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Chromosome X-wide common variant association study in autism spectrum disorder.
PMID: 39706197
Am J Hum Genet Β· 2025
1.00
2
Dynamic expression analysis of armc10, the homologous gene of human GPRASP2, in zebrafish embryos.
PMID: 28849214
Mol Med Rep Β· 2017
0.90
3
GPRASP protein deficiency triggers lymphoproliferative disease by affecting B-cell differentiation.
PMID: 39479518
Hemasphere Β· 2024
0.80
4
Disruption of Gprasp2 down-regulates Hedgehog signaling and leads to apoptosis in auditory cells.
PMID: 34418635
Biochem Biophys Res Commun Β· 2021
0.70
5
GPRASP/ARMCX Protein Family: Potential Involvement in Health and Diseases Revealed by their Novel Interacting Partners.
PMID: 33267763
Curr Top Med Chem Β· 2021
0.60