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Relevance to Autism

A rare variant in the GRPR gene has been identified with autism (Ishikawa-Brush et al., 1997). However, no genetic association was found between GRPR and autism in a Japanese population cohort. In addition, no rare variants were found in the GRPR gene during a screen of Rett syndrome patients.

Molecular Function

The encoded protein has G-protein coupled receptor activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene.
ASD
Negative Association
Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome.
RTT
Negative Association
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.
ASD
Negative Association
Gastrin-releasing peptide receptor (GRPR) locus in Japanese subjects with autism.
ASD
Support
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
DD, ID
ASD, ADHD
Highly Cited
Molecular cloning of the bombesin/gastrin-releasing peptide receptor from Swiss 3T3 cells.
Recent Recommendation
Molecular mechanisms mediating gastrin-releasing peptide receptor modulation of memory consolidation in the hippocampus.
Recent Recommendation
Identification of key amino acids in the gastrin-releasing peptide receptor (GRPR) responsible for high affinity binding of gastrin-releasing pepti...

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN114R001 
 translocation 
  
  
  
  
  
 GEN114R002 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN114R003 
 missense_variant 
 c.17G>C 
 p.Cys6Ser 
 Familial 
 Maternal 
 Multiplex 
 GEN114R004 
 missense_variant 
 c.541C>T 
 p.Leu181Phe 
 Familial 
 Paternal 
 Simplex 
 GEN114R005 
 synonymous_variant 
 c.93C>T 
 p.Asn31= 
 Unknown 
  
  
 GEN114R006 
 synonymous_variant 
 c.396G>A 
 p.Thr132= 
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 17
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

Model Summary

GRPR deficient mice showed significantly increased locomotor activity during the dark period, social responses. Aggressive scores such as fighting and biting were not altered in the mutant mice.

References

Type
Title
Author, Year
Additional
A gastrin-releasing peptide receptor mediates the itch sensation in the spinal cord.
Primary
Generation and characterization of mice lacking gastrin-releasing peptide receptor.
Additional
Loss of bombesin-induced feeding suppression in gastrin-releasing peptide receptor-deficient mice.

M_GRPR_5_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Replacement-type targeting vector interrupted exon 1 of Grpr gene by a neo gene cassette.
Allele Type: Targeted (Knock-Out)
Strain of Origin: 129/SvJ
Genetic Background: ES/C57BL/6J
ES Cell Line: R4
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GRPR_1_KO

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Gene targeted disruption of 5' end of Exon 2 of Grpr gene.
Allele Type: Targeted (Knock-Out)
Strain of Origin: 129/Sv
Genetic Background: C57BL6/6J (B6)
ES Cell Line: E14
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GRPR_2_KO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Targeted replacement of exon 1 of the GRPR gene with neo cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: R4
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GRPR_3_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Targeted replacement of exon 1 of the GRPR gene with neo cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: R4
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GRPR_4_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted replacement of exon 1 of the GRPR gene with neo cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: R4
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GRPR_5_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Itch sensation1
Decreased
Description: Decreased itch sensation
Exp Paradigm: Intradermal injection of puritogenic compount 48/80 (100 g per 50 l), par2, and chloroquine
 Intradermal injection
 8-12 weeks
Itch sensation1
Decreased
Description: Decreased itch sensation
Exp Paradigm: Intrathecal administration of grpr agonist grp18-27
 Intrathecal injection
 8-12 weeks
Protein expression level evidence1
Abnormal
Description: Expressed in small and medium sized dorsal root ganglion neurons; located in lamina i and ii outer layer of spinal cord
Exp Paradigm: Grpr protein expression pattern
 Immunocytochemistry
 8-12 weeks
Protein expression level evidence1
Decreased
Description: Decreased protein expression
Exp Paradigm: Protein expression
 Radioligand binding studies
 Unreported
General characteristics1
 No change
 Histology
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Hormone levels1
 No change
 Hormone release by pancreatic acini
 Unreported
Pain or nociception1
 No change
 Paw injection test
 8-12 weeks
Pain or nociception1
 No change
 Hot plate test
 8-12 weeks
Pain or nociception1
 No change
 Tail flick test
 8-12 weeks
Pain or nociception1
 No change
 Von frey filament test
 8-12 weeks
Pain or nociception1
 No change
 Paw withdrawal test
 8-12 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_GRPR_1_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Increased general locomotor activity
Exp Paradigm: Open field test
 Open field test
 4-5 months
Social approach1
Increased
Description: Increased social responses
Exp Paradigm: Behavioral response to introduction of intruder
 Reciprocal social interaction test
 4 months
Regulation of gene expression1
Decreased
Description: Absence of gene expression
Exp Paradigm: Grpr gene regulation
 Quantitative pcr (qrt-pcr)
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased protein expression
Exp Paradigm: Grpr protein expression
 Autoradiographic analysis
 Unreported
Circadian rhythm1
 No change
 NA
 Unreported
Cardiovascular development and function1
 No change
 Blood pressure measurement
 3-4 months
General characteristics1
 No change
 General observations
 Unreported
Anxiety1
 No change
 Elevated plus maze test
 3-4 months
Object recognition memory1
 No change
 General observations
 3-4 months
Spatial reference memory1
 No change
 Morris water maze test
 3-4 months
Motor coordination and balance1
 No change
 Accelerating rotarod test
 3-4 months
Brain morphology1
 No change
 Histology
 Unreported
Neurotransmitter release: serotonin1
 No change
 High-performance liquid chromatography (hplc)
 5 months
Neurotransmitter release: serotonin1
 No change
 Immunohistochemistry
 4 months
Glucose levels1
 No change
 Elisa
 2-3 months
Glucose levels1
 No change
 Enzyme assay
 2-3 months
Glucose levels1
 No change
 Radioimmunoassay (ria)
 2-3 months
Glucose levels1
 No change
 Measurement of blood glucose
 2-3 months
Seizures1
 No change
 NA
 Unreported
Pain or nociception1
 No change
 Tail flick test
 Unreported
Sensorimotor gating1
 No change
 Prepulse inhibition
 3-4 months
Aggression1
 No change
 Resident-intruder test
 4 months
 Not Reported: Communications, Immune response, Maternal behavior, Physiological parameters, Repetitive behavior

M_GRPR_2_KO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythm: protein expression periodicity1
Decreased
Description: Decreased release of amylase in response to administration of bombesin
Exp Paradigm: Amylase release assay on acini derived from pancreas after administration of bombesin
 Amylase release assay
 Unreported
Circadian rhythm: protein expression periodicity1
 No change
 Amylase release assay
 Unreported
Developmental trajectory1
 No change
 Histology
 10 months
General characteristics1
 No change
 General observations
 Unreported
Mortality/lethality1
 No change
 General observations
 Unreported
Size/growth1
 No change
 General observations
 Unreported
Brain development1
 No change
 Histology
 10 months
 Not Reported: Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_GRPR_3_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General characteristics1
 No change
 General observations
 Unreported
Mortality/lethality1
 No change
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_GRPR_4_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General characteristics1
 No change
 General observations
 Unreported
Mortality/lethality1
 No change
 General observations
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ABCB6 ADK 10058 Q9NP58 IP; LC-MS/MS
Huttlin EL , et al. 2015
ACVR2B activin A receptor, type IIB 93 Q13705 IP; LC-MS/MS
Huttlin EL , et al. 2015
ADCK1 Uncharacterized aarF domain-containing protein kinase 1 57143 Q86TW2-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARF5 ADP-ribosylation factor 5 381 A4D0Z3 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARL5B ADP-ribosylation factor-like 5B 221079 B0YIW9 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARL8B ADP-ribosylation factor-like 8B 55207 Q9NVJ2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARV1 ARV1 homolog (S. cerevisiae) 64801 Q9H2C2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ASPHD2 Aspartate beta-hydroxylase domain-containing protein 2 57168 Q6ICH7 IP; LC-MS/MS
Huttlin EL , et al. 2015
ATL3 atlastin GTPase 3 25923 Q6DD88 IP; LC-MS/MS
Huttlin EL , et al. 2015
ATP12A Potassium-transporting ATPase alpha chain 2 479 P54707-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ATP7B ATPase, Cu++ transporting, beta polypeptide 540 B7ZLR4 IP; LC-MS/MS
Huttlin EL , et al. 2015
ATPBD4 diphthamine biosynthesis 6 NM_001141972 Q7L8W6 IP; LC-MS/MS
Huttlin EL , et al. 2015
BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) 9044 O14981 IP; LC-MS/MS
Huttlin EL , et al. 2015
C10ORF58 family with sequence similarity 213, member A 84293 Q9BRX8 IP; LC-MS/MS
Huttlin EL , et al. 2015
CBWD3 COBW domain containing 3 445571 Q5JTY5 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 9578 Q86XZ8 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 1040 Q92903 IP; LC-MS/MS
Huttlin EL , et al. 2015
COX1 mitochondrially encoded cytochrome c oxidase I 4512 P00395 IP; LC-MS/MS
Huttlin EL , et al. 2015
DHRS7 Dehydrogenase/reductase SDR family member 7 51635 Q9Y394-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
DSTYK dual serine/threonine and tyrosine protein kinase 25778 Q6XUX3 IP; LC-MS/MS
Huttlin EL , et al. 2015
F2R coagulation factor II (thrombin) receptor 2149 P25116 IP; LC-MS/MS
Huttlin EL , et al. 2015
FADS1 fatty acid desaturase 1 3992 O60427 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM134A Protein FAM134A 79137 Q8NC44 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAR2 fatty acyl CoA reductase 2 55711 Q96K12 IP; LC-MS/MS
Huttlin EL , et al. 2015
FNDC3A fibronectin type III domain containing 3A 22862 Q9Y2H6 IP; LC-MS/MS
Huttlin EL , et al. 2015
GJC1 gap junction protein, gamma 1, 45kDa 10052 P36383 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNPAT glyceronephosphate O-acyltransferase 8443 O15228 IP; LC-MS/MS
Huttlin EL , et al. 2015
GPR50 Melatonin-related receptor 9248 Q13585 IP; LC-MS/MS
Huttlin EL , et al. 2015
GPR89A Golgi pH regulator A 51463 B7ZAQ6-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GRP gastrin-releasing peptide 2922 P07492 I-125 binding assay
Benya RV , et al. 1995
HCCS Cytochrome c-type heme lyase 3052 P53701 IP; LC-MS/MS
Huttlin EL , et al. 2015
LMBR1 limb region 1 homolog (mouse) 64327 Q8WVP7 IP; LC-MS/MS
Huttlin EL , et al. 2015
LMBRD2 LMBR1 domain containing 2 92255 Q68DH5 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast) 10459 Q9UI95 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAPK1 mitogen-activated protein kinase 1 5594 P28482 WB
Li X , et al. 2010
MAPK3 mitogen-activated protein kinase 3 5595 P27361 WB
Li X , et al. 2010
MBLAC2 Metallo-beta-lactamase domain-containing protein 2 153364 Q68D91 IP; LC-MS/MS
Huttlin EL , et al. 2015
METTL7B Methyltransferase-like protein 7B 196410 Q6UX53 IP; LC-MS/MS
Huttlin EL , et al. 2015
MFSD5 major facilitator superfamily domain containing 5 84975 Q6N075 IP; LC-MS/MS
Huttlin EL , et al. 2015
MIPEP mitochondrial intermediate peptidase 4285 Q99797 IP; LC-MS/MS
Huttlin EL , et al. 2015
MTG1 Mitochondrial ribosome-associated GTPase 1 92170 Q9BT17 IP; LC-MS/MS
Huttlin EL , et al. 2015
NDUFAF1 Complex I intermediate-associated protein 30, mitochondrial 51103 Q9Y375 IP; LC-MS/MS
Huttlin EL , et al. 2015
NMB neuromedin B 4828 Q14956 I-125 binding assay
Benya RV , et al. 1995
PANX1 pannexin 1 24145 Q96RD7 IP; LC-MS/MS
Huttlin EL , et al. 2015
PTRH2 peptidyl-tRNA hydrolase 2 51651 Q9Y3E5 IP; LC-MS/MS
Huttlin EL , et al. 2015
RAB32 Ras-related protein Rab-32 10981 Q13637 IP; LC-MS/MS
Huttlin EL , et al. 2015
RAB3B RAB3B, member RAS oncogene family 5865 P20337 IP; LC-MS/MS
Huttlin EL , et al. 2015
RAB4A RAB4A, member RAS oncogene family 5867 P20338 IP; LC-MS/MS
Huttlin EL , et al. 2015
RAP1B RAP1B, member of RAS oncogene family 5908 P61224 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 10560 O60779 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 6535 P48029 IP; LC-MS/MS
Huttlin EL , et al. 2015
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 6890 Q03518 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM22 solute carrier family 35, member G2 80723 Q8TBE7 IP; LC-MS/MS
Huttlin EL , et al. 2015
TTK TTK protein kinase 7272 P33981 IP; LC-MS/MS
Huttlin EL , et al. 2015
USP30 ubiquitin specific peptidase 30 84749 Q70CQ3 IP; LC-MS/MS
Huttlin EL , et al. 2015
ADRBK1 adrenergic beta receptor 1 110355 Q99MK8 Metabolic labeling with 32P
Kroog GS , et al. 1999

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