GPR37
Homo sapiens
Gene Name: G protein-coupled receptor 37
Aliases: EDNRBL, PAELR, hET(B)R-LP
Chromosome No: 7
Chromosome Band: 7q31.33
Genetic Category: Rare single gene variant-
Aliases: EDNRBL, PAELR, hET(B)R-LP
Chromosome No: 7
Chromosome Band: 7q31.33
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 4
Evidence score: 3
ASD Reports: 3
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Two rare mutations in the GPR37 gene were identified in ASD patients: 1585-1587 ttc del (Del312F) in one Japanese patient and G2324A (R558Q) in one Caucasian patient. In addition, a potential ASD-related GPR37 variant, T589M, was found in 7 affected Caucasian men from five different families (Fujita-Jimbo et al., 2012).
Molecular Function
This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to autism spectrum disorder.
ASD
Recent Recommendation
CASPR2 forms a complex with GPR37 via MUPP1 but not with GPR37(R558Q), an autism spectrum disorder-related mutation.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN489R001
inframe_deletion
c.1587_1589del
p.Leu530del
Familial
Paternal
Simplex
GEN489R003
missense_variant
c.*575C>T
Familial
Maternal (n=4); paternal (n=1)
Multiplex
GEN489R004
missense_variant
c.2058C>G
p.Ile469Met
Familial
Maternal
Unknown
GEN489R005
synonymous_variant
c.240T>C
p.Phe80=
Unknown
Unknown
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN489C001
synonymous_variant
rs3735270
c.1329G>C
p.(=)
72 Japanese and 194 Caucasian ASD cases, 145 Japanese and 200 Caucasian controls
Discovery
GEN489C002
synonymous_variant
rs724356
c.1047T>C
p.(=)
194 Caucasian ASD patients from multiplex families (AGRE), 200 Caucasian controls
Discovery
GEN489C003
synonymous_variant
rs62638681
c.48T>C
p.(=)
195 Caucasian ASD patients from multiplex families (AGRE), 200 Caucasian controls
Discovery
GEN489C004
synonymous_variant
rs61744942
c.660C>T
p.(=)
196 Caucasian ASD patients from multiplex families (AGRE), 200 Caucasian controls
Discovery
