G2Cdb::Gene report

Gene id
G00001313
Gene symbol
GRM5 (HGNC)
Species
Homo sapiens
Description
glutamate receptor, metabotropic 5
Orthologue
G00000064 (Mus musculus)

Databases (7)

Gene
ENSG00000168959 (Ensembl human gene)
2915 (Entrez Gene)
96 (G2Cdb plasticity & disease)
GRM5 (GeneCards)
Literature
604102 (OMIM)
Marker Symbol
HGNC:4597 (HGNC)
Protein Sequence
P41594 (UniProt)

Synonyms (3)

  • GPRC1E
  • MGLUR5
  • mGlu5

Diseases (3)

Disease Nervous effect Mutations Found Literature Mutations Type Genetic association?
D00000166: Schizophrenia Y Y (11326300) Microinsertion (MI) Y
D00000166: Schizophrenia Y Y (11326300) Repeat polymorphism (RP) Y
D00000196: Leukodystrophy N Y (14722582) No mutation found (N) N
D00000192: Dystonia parkinsonism (rapid onset) Y Y (15254951) No mutation found (N) N

References

  • Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.

    Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO and Ozelius LJ

    Molecular Neurogenetics Unit, Department of Neurology, Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

    By examining two previously described families with rapid-onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.

    Funded by: NINDS NIH HHS: NS38372

    Movement disorders : official journal of the Movement Disorder Society 2004;19;7;845-7

  • Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

    Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D and Arveiler B

    Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, F-33076, Bordeaux, France. cyril.goizet@chu-bordeaux.fr

    Leukodystrophies represent a heterogeneous group of rare hereditary diseases affecting the central nervous system. The underlying molecular defect remains unknown in almost 50% of cases. We previously assigned a new locus for leukodystrophy of unknown cause to chromosome 11q14.3 by identifying a de novo microdeletion in a sporadic case. We now report the precise molecular characterization of this microdeletion. Physical mapping of the region of interest allowed us to identify and analyze candidate gene(s) possibly implicated in leukodystrophy.

    European journal of human genetics : EJHG 2004;12;3;245-50

  • The genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophrenia.

    Devon RS, Anderson S, Teague PW, Muir WJ, Murray V, Pelosi AJ, Blackwood DH and Porteous DJ

    Medical Genetics Section, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.

    The G-protein coupled metabotropic glutamate receptors (GRMs/mGluRs) have been implicated in the aetiology of schizophrenia as they modulate the NMDA response and that of other neurotransmitters including dopamine and GABA.(1-3) Electrophysiological studies in GRM subtype 5 knockout mice reveal, in one study, a sensorimotor gating deficit characteristic of schizophrenia and in another, a key rôle for this gene in the modulation of hippocampal NMDA-dependent synaptic plasticity. In humans, GRM5 levels are increased in certain pyramidal cell neurons in schizophrenics vs controls.(6) Finally, GRM5 has been mapped to 11q14, neighbouring a translocation that segregates with schizophrenia and related psychoses in a large Scottish family, F23 (MLOD score 6.0). We determined the intron/exon structure of GRM5 and identified a novel intragenic microsatellite. A case-control association study identified a significant difference in allele frequency distribution between schizophrenics and controls (P = 0.04). This is suggestive of involvement of the GRM5 gene in schizophrenia in this population.

    Molecular psychiatry 2001;6;3;311-4

Literature (42)

Pubmed - human_disease

  • Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

    Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D and Arveiler B

    Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, F-33076, Bordeaux, France. cyril.goizet@chu-bordeaux.fr

    Leukodystrophies represent a heterogeneous group of rare hereditary diseases affecting the central nervous system. The underlying molecular defect remains unknown in almost 50% of cases. We previously assigned a new locus for leukodystrophy of unknown cause to chromosome 11q14.3 by identifying a de novo microdeletion in a sporadic case. We now report the precise molecular characterization of this microdeletion. Physical mapping of the region of interest allowed us to identify and analyze candidate gene(s) possibly implicated in leukodystrophy.

    European journal of human genetics : EJHG 2004;12;3;245-50

  • The genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophrenia.

    Devon RS, Anderson S, Teague PW, Muir WJ, Murray V, Pelosi AJ, Blackwood DH and Porteous DJ

    Medical Genetics Section, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.

    The G-protein coupled metabotropic glutamate receptors (GRMs/mGluRs) have been implicated in the aetiology of schizophrenia as they modulate the NMDA response and that of other neurotransmitters including dopamine and GABA.(1-3) Electrophysiological studies in GRM subtype 5 knockout mice reveal, in one study, a sensorimotor gating deficit characteristic of schizophrenia and in another, a key rôle for this gene in the modulation of hippocampal NMDA-dependent synaptic plasticity. In humans, GRM5 levels are increased in certain pyramidal cell neurons in schizophrenics vs controls.(6) Finally, GRM5 has been mapped to 11q14, neighbouring a translocation that segregates with schizophrenia and related psychoses in a large Scottish family, F23 (MLOD score 6.0). We determined the intron/exon structure of GRM5 and identified a novel intragenic microsatellite. A case-control association study identified a significant difference in allele frequency distribution between schizophrenics and controls (P = 0.04). This is suggestive of involvement of the GRM5 gene in schizophrenia in this population.

    Molecular psychiatry 2001;6;3;311-4

Pubmed - other

Component References failed to execute

Gene lists (8)

Gene List Source Species Name Description Gene count
L00000009 G2C Homo sapiens Human PSD Human orthologues of mouse PSD adapted from Collins et al (2006) 1080
L00000013 G2C Homo sapiens Human mGluR5 Human orthologues of mouse mGluR5 complex adapted from Collins et al (2006) 52
L00000015 G2C Homo sapiens Human NRC Human orthologues of mouse NRC adapted from Collins et al (2006) 186
L00000016 G2C Homo sapiens Human PSP Human orthologues of mouse PSP adapted from Collins et al (2006) 1121
L00000033 G2C Homo sapiens Pocklington H2 Human orthologues of cluster 2 (mouse) from Pocklington et al (2006) 13
L00000061 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-CONSENSUS Mouse cortex PSD consensus (ortho) 984
L00000069 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-FULL Human cortex biopsy PSD full list 1461
L00000071 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-FULL Mouse cortex PSD full list (ortho) 1556
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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