This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of... See more...

Aliases for GRM5 Gene

Aliases for GRM5 Gene

  • Glutamate Metabotropic Receptor 5 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 86 2 3
  • Glutamate Receptor, Metabotropic 5 2 3
  • Metabotropic Glutamate Receptor 5 3 4
  • GPRC1E 3 4
  • MGLUR5 3 4
  • PPP1R86 3
  • MGluR5 4
  • MGlu5 3

External Ids for GRM5 Gene

Previous GeneCards Identifiers for GRM5 Gene

  • GC11M090564
  • GC11M089787
  • GC11M088425
  • GC11M087929
  • GC11M087881
  • GC11M088237
  • GC11M084476

Summaries for GRM5 Gene

Entrez Gene Summary for GRM5 Gene

  • This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneCards Summary for GRM5 Gene

GRM5 (Glutamate Metabotropic Receptor 5) is a Protein Coding gene. Diseases associated with GRM5 include Fragile X Syndrome and Fragile X-Associated Tremor/Ataxia Syndrome. Among its related pathways are Signaling by GPCR and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and A2A adenosine receptor binding. An important paralog of this gene is GRM1.

UniProtKB/Swiss-Prot Summary for GRM5 Gene

  • G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system and generates a calcium-activated chloride current. Plays an important role in the regulation of synaptic plasticity and the modulation of the neural network activity.

Tocris Summary for GRM5 Gene

  • Metabotropic glutamate (mGlu) group I receptors are members of the metabotropic class of glutamate receptors, which also includes mGlu group II and mGlu group III receptors. mGlu group I receptors are divided into two subtypes, mGlu1 and mGlu5.

Gene Wiki entry for GRM5 Gene

Additional gene information for GRM5 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRM5 Gene

Genomics for GRM5 Gene

GeneHancer (GH) Regulatory Elements for GRM5 Gene

Promoters and enhancers for GRM5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J089066 Promoter 1 EPDnew Ensembl 500.7 0.0 -39 0.4 EP300 ZIC2 ZBTB26 SMC3 MXI1 CTCF L3MBTL2 TBP EZH2 RAD21 GRM5 TYR
GH11J088813 Enhancer 0.6 ENCODE 4.3 +252.5 252522 0.5 MEF2B IKZF1 BMI1 NFATC3 ATF2 TBX21 JUNB ZNF217 ZNF24 MEF2A GRM5 piR-61240-059 piR-38351-084
GH11J088606 Enhancer 0.2 FANTOM5 8.9 +459.0 459030 0.1 GRM5 RNU6-16P RF00026-199 lnc-CTSC-6
GH11J089175 Enhancer 0.6 FANTOM5 Ensembl 0.1 -110.1 -110139 0.6 USF1 EZH2 EBF1 TYR GRM5
GH11J089119 Enhancer 0.3 Ensembl 0.2 -53.7 -53740 0.6 EZH2 GRM5 TYR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRM5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRM5

Top Transcription factor binding sites by QIAGEN in the GRM5 gene promoter:
  • AML1a
  • AP-1
  • c-Myc
  • FOXF2
  • FOXL1
  • Max1
  • Nkx2-5
  • Pax-5
  • POU3F2
  • Sox5

Genomic Locations for GRM5 Gene

Genomic Locations for GRM5 Gene
chr11:88,504,576-89,065,961
(GRCh38/hg38)
Size:
561,386 bases
Orientation:
Minus strand
chr11:88,237,744-88,799,113
(GRCh37/hg19)
Size:
561,370 bases
Orientation:
Minus strand

Genomic View for GRM5 Gene

Genes around GRM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRM5 Gene

Proteins for GRM5 Gene

  • Protein details for GRM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41594-GRM5_HUMAN
    Recommended name:
    Metabotropic glutamate receptor 5
    Protein Accession:
    P41594
    Secondary Accessions:
    • Q6J164

    Protein attributes for GRM5 Gene

    Size:
    1212 amino acids
    Molecular mass:
    132469 Da
    Quaternary structure:
    • The PPXXF motif binds HOMER1, HOMER2 and HOMER3. Interacts with SIAH1, RYR1, RYR2, ITPR1, SHANK1, SHANK3 and GRASP. Interacts with NCDN (By similarity). Isoform 2 interacts with NECAB2 (PubMed:19694902). Interacts with CAMK2A (PubMed:28130356).

    Three dimensional structures from OCA and Proteopedia for GRM5 Gene

    Alternative splice isoforms for GRM5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRM5 Gene

Post-translational modifications for GRM5 Gene

  • Glycosylation at Asn88, Asn210, Asn378, Asn382, Asn445, and Asn734
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRM5 Gene

Domains & Families for GRM5 Gene

Gene Families for GRM5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GRM5 Gene

Blocks:
  • G-protein coupled receptors family 3 (Metabotropic glutamate receptor-like)
  • Extracellular ligand-binding receptor
  • Metabotropic glutamate receptor signature
  • Metabotropic glutamate receptor 5 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRM5 Gene

GenScript: Design optimal peptide antigens:
  • Metabotropic glutamate receptor 5 (GRM5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41594

UniProtKB/Swiss-Prot:

GRM5_HUMAN :
  • Belongs to the G-protein coupled receptor 3 family.
Family:
  • Belongs to the G-protein coupled receptor 3 family.
genes like me logo Genes that share domains with GRM5: view

Function for GRM5 Gene

Molecular function for GRM5 Gene

UniProtKB/Swiss-Prot Function:
G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system and generates a calcium-activated chloride current. Plays an important role in the regulation of synaptic plasticity and the modulation of the neural network activity.
GENATLAS Biochemistry:
glutamate receptor group I,metabotropic 5,expressed in brain,most strongly in hippocampus,G protein coupled receptor superfamily,binding to HOMER proteins and linked to inositol phosphate receptors,activating PI turnover and triggering intracellular calcium release

Phenotypes From GWAS Catalog for GRM5 Gene

Gene Ontology (GO) - Molecular Function for GRM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IMP 7908515
GO:0005515 protein binding IPI 19694902
GO:0008066 glutamate receptor activity IDA 7908515
GO:0030296 protein tyrosine kinase activator activity TAS 24012003
GO:0042802 identical protein binding IPI 30675062
genes like me logo Genes that share ontologies with GRM5: view
genes like me logo Genes that share phenotypes with GRM5: view

Animal Models for GRM5 Gene

MGI Knock Outs for GRM5:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for GRM5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GRM5 Gene

Localization for GRM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRM5 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRM5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GRM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IMP 7908515
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GRM5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRM5 Gene

Pathways & Interactions for GRM5 Gene

genes like me logo Genes that share pathways with GRM5: view

Pathways by source for GRM5 Gene

SIGNOR curated interactions for GRM5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GRM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation IGI 24012003
GO:0006417 regulation of translation TAS 24012003
GO:0006448 regulation of translational elongation IGI 24012003
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with GRM5: view

Drugs & Compounds for GRM5 Gene

(177) Drugs for GRM5 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acamprosate Approved, Investigational Pharma agonist, Target, antagonist 41
Calcium Approved Nutra 7884
Rufinamide Approved Pharma Target, inhibitor 14
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist 0
Spaglumic acid Experimental Pharma Selective mGlu3 agonist 0

(11) Additional Compounds for GRM5 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-trans-ACPD
67684-64-4

(5) Tocris Compounds for GRM5 Gene

Compound Action Cas Number
(+-)-trans-ACPD Group I/group II mGlu agonist 67684-64-4
(1S,3R)-ACPD Group I/group II mGlu agonist 111900-32-4
(RS)-3-Hydroxyphenylglycine Group I mGlu agonist 31932-87-3
(S)-3-Hydroxyphenylglycine Group I mGlu agonist, active isomer 71301-82-1
S-Sulfo-L-cysteine sodium salt Group I agonist 7381-67-1

(113) ApexBio Compounds for GRM5 Gene

Compound Action Cas Number
(±)-LY 395756 852679-66-4
(±)-trans-ACPD 67684-64-4
(1S,3R)-ACPD 111900-32-4
(R)-3,4-DCPG 201730-10-1
(R)-3-Carboxy-4-hydroxyphenylglycine 13861-03-5
(RS)-3,4-DCPG 176796-64-8
(RS)-3,5-DHPG 19641-83-9
(RS)-3-Hydroxyphenylglycine 31932-87-3
(RS)-4-Carboxy-3-hydroxyphenylglycine 134052-66-7
(RS)-4-Carboxyphenylglycine 7292-81-1
(RS)-APICA 170847-18-4
(RS)-MCPG 146669-29-6
(RS)-MCPG disodium salt 1303994-09-3
(RS)-PPG 120667-15-4
(S)-3,4-DCPG 201730-11-2
(S)-3,5-DHPG 162870-29-3
(S)-3-Carboxy-4-hydroxyphenylglycine 55136-48-6
(S)-3-Hydroxyphenylglycine 71301-82-1
(S)-4-Carboxy-3-hydroxyphenylglycine 85148-82-9
(S)-4-Carboxyphenylglycine 134052-73-6
(S)-HexylHIBO 334887-48-8
(S)-MCPG 150145-89-4
2,4-Dihydroxyphenylacetyl-L-asparagine 111872-98-1
3-MATIDA 518357-51-2
ACDPP hydrochloride 37804-11-8
ACPT-I 194918-76-8
ADX 10059 hydrochloride Negative allosteric modulator at mGlu5 757949-98-7
ADX-47273 851881-60-2
AIDA 168560-79-0
BINA 866823-73-6
CBiPES hydrochloride 856702-40-4
CDPPB 781652-57-1
CHPG mGlu5 metabotropic glutamate receptor agonist 170846-74-9
CHPG Sodium salt 1303993-73-8
Cinnabarinic acid 606-59-7
CPCCOEt 179067-99-3
CPPG 183364-82-1
CPPHA MGluR5 receptor allosteric modulator 693288-97-0
CTEP (RO4956371) MGlu5 inhibitor 871362-31-1
D-AP4 78739-01-2
DCB 6971-97-7
DCG IV 147782-19-2
Desmethyl-YM 298198 1177767-57-5
DFB 15332-10-2
Dipraglurant 872363-17-2
DL-AP4 20263-07-4
DL-AP4 Sodium salt 1263093-79-3
DMeOB 40252-74-2
E4CPG 170846-89-6
EGLU 170984-72-2
Fenobam 57653-26-6
HexylHIBO 334887-43-3
JNJ 16259685 409345-29-5
Kynurenic acid 492-27-3
Kynurenic acid sodium salt 2439-02-3
L-AP4 23052-81-5
L-AP6 78944-89-5
L-BMAA hydrochloride 16012-55-8
L-CCG-l 117857-93-9
L-Glutamine 56-85-9
LY 2389575 hydrochloride 885104-09-6
LY 354740 176199-48-7
LY 379268 disodium salt
LY 456236 hydrochloride 338736-46-2
LY 487379 hydrochloride 353229-59-1
MAP4 157381-42-5
MFZ 10-7 1224431-15-5
ML 289 1382481-79-9
ML 337 1443118-44-2
MMPIP hydrochloride 479077-02-6
MNI 137 946619-21-2
MNI-caged-L-glutamate 295325-62-1
MPEP MGlu5 receptor antagonist 96206-92-7
MPEP Hydrochloride MGlu5 receptor antagonist 219911-35-0
MSOP 66515-29-5
MSPG 169209-64-7
MTEP hydrochloride MGlu5 antagonist 1186195-60-7
MTPG 169209-66-9
N-Acetylglycyl-D-glutamic acid 135701-69-8
NPEC-caged-(1S,3R)-ACPD 1315379-60-2
NPEC-caged-(S)-3,4-DCPG 1257323-85-5
NPEC-caged-LY 379268
NPS 2390 226878-01-9
O-Phospho-L-serine 407-41-0
PHCCC 179068-02-1
RG7090 802906-73-6
Ro 01-6128 302841-86-7
Ro 64-5229 246852-46-0
Ro 67-4853 302841-89-0
Ro 67-7476 298690-60-5
RuBi-Glutamate
Salsolinol-1-carboxylic acid 57256-34-5
SIB 1757 31993-01-8
SIB 1893 6266-99-5
Spaglumic acid 3106-85-2
S-Sulfo-L-cysteine sodium salt 7381-67-1
TC-N 22A 1314140-00-5
TCN 238 125404-04-8
UBP1112 339526-74-8
VU 0155041 1093757-42-6
VU 0155041 sodium salt 1259372-69-4
VU 0285683 327056-22-4
VU 0357121 433967-28-3
VU 0360172 hydrochloride 1309976-62-2
VU 0360223 1274859-33-4
VU 1545 890764-63-3
VU 29 890764-36-0
Xanthurenic acid 59-00-7
YM 202074 299900-84-8
YM 230888 446257-23-4
YM 298198 hydrochloride 1216398-09-2
Z-Cyclopentyl-AP4 103439-17-4
γDGG 6729-55-1
genes like me logo Genes that share compounds with GRM5: view

Drug Products

Transcripts for GRM5 Gene

mRNA/cDNA for GRM5 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GRM5

Alternative Splicing Database (ASD) splice patterns (SP) for GRM5 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: -
SP3:

Relevant External Links for GRM5 Gene

GeneLoc Exon Structure for
GRM5

Expression for GRM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRM5 Gene

mRNA differential expression in normal tissues according to GTEx for GRM5 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.2), Brain - Anterior cingulate cortex (BA24) (x6.8), Brain - Nucleus accumbens (basal ganglia) (x6.4), Brain - Caudate (basal ganglia) (x5.8), Brain - Cortex (x5.6), Brain - Putamen (basal ganglia) (x5.0), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for GRM5 Gene

This gene is overexpressed in Fetal Brain (38.2) and Frontal cortex (25.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRM5 Gene



Protein tissue co-expression partners for GRM5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRM5

SOURCE GeneReport for Unigene cluster for GRM5 Gene:

Hs.147361

Evidence on tissue expression from TISSUES for GRM5 Gene

  • Nervous system(4.9)
  • Blood(3.5)
genes like me logo Genes that share expression patterns with GRM5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRM5 Gene

Orthologs for GRM5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRM5 31 30
  • 99.69 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRM5 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRM5 31 30
  • 92.42 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRM5 31
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grm5 17 31 30
  • 89.14 (n)
cow
(Bos Taurus)
Mammalia GRM5 31 30
  • 87.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grm5 30
  • 87.63 (n)
chicken
(Gallus gallus)
Aves GRM5 31 30
  • 78.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRM5 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grm5 30
  • 75.36 (n)
zebrafish
(Danio rerio)
Actinopterygii GRM5 (2 of 2) 31
  • 73 (a)
OneToMany
GRM5 (1 of 2) 31
  • 72 (a)
OneToMany
LOC100332913 30
  • 70.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30361 32
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea mgl-2 31
  • 37 (a)
OneToMany
mgl-1 32
  • 36 (a)
Species where no ortholog for GRM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRM5 Gene

ENSEMBL:
Gene Tree for GRM5 (if available)
TreeFam:
Gene Tree for GRM5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRM5: view image

Paralogs for GRM5 Gene

Paralogs for GRM5 Gene

(11) SIMAP similar genes for GRM5 Gene using alignment to 7 proteins:

  • GRM5_HUMAN
  • A8MT20_HUMAN
  • G8XUU6_HUMAN
  • G8XUU7_HUMAN
  • G8XUU8_HUMAN
  • H7C223_HUMAN
  • K9J9K9_HUMAN

Pseudogenes.org Pseudogenes for GRM5 Gene

genes like me logo Genes that share paralogs with GRM5: view

Variants for GRM5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRM5 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1565260714 Not Provided: not provided 88,850,020(-) C/G MISSENSE_VARIANT
rs879255347 Uncertain Significance: not specified 88,567,109(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GRM5 Gene

Structural Variations from Database of Genomic Variants (DGV) for GRM5 Gene

Variant ID Type Subtype PubMed ID
dgv2058n54 CNV loss 21841781
dgv2059n54 CNV loss 21841781
dgv2060n54 CNV loss 21841781
dgv2061n54 CNV loss 21841781
dgv401e212 CNV loss 25503493
dgv402e212 CNV loss 25503493
dgv78n21 CNV gain 19592680
esv1705083 CNV insertion 17803354
esv22440 CNV gain 19812545
esv2608798 CNV insertion 19546169
esv2744875 CNV deletion 23290073
esv2744876 CNV deletion 23290073
esv2744877 CNV deletion 23290073
esv2744878 CNV deletion 23290073
esv2744879 CNV deletion 23290073
esv2751036 CNV loss 17911159
esv2759848 CNV gain 17122850
esv2760488 CNV loss 21179565
esv32702 CNV gain+loss 17666407
esv3306089 CNV mobile element insertion 20981092
esv3307383 CNV mobile element insertion 20981092
esv3309787 CNV mobile element insertion 20981092
esv33207 CNV gain 17666407
esv33258 CNV loss 17666407
esv3355384 CNV insertion 20981092
esv3548115 CNV deletion 23714750
esv3548116 CNV deletion 23714750
esv3579799 CNV loss 25503493
esv3579800 CNV loss 25503493
esv3579801 CNV loss 25503493
esv3579807 CNV loss 25503493
esv3579982 CNV gain 25503493
esv3627149 CNV loss 21293372
esv3627151 CNV loss 21293372
esv3627152 CNV loss 21293372
esv3627153 CNV loss 21293372
esv3627154 CNV gain 21293372
esv3627156 CNV loss 21293372
esv3627157 CNV loss 21293372
nsv1035387 CNV gain 25217958
nsv1040111 CNV loss 25217958
nsv1048516 CNV gain 25217958
nsv1053936 CNV loss 25217958
nsv1054489 CNV gain 25217958
nsv1127218 CNV deletion 24896259
nsv1127219 CNV deletion 24896259
nsv1134161 CNV deletion 24896259
nsv1145561 CNV deletion 24896259
nsv38884 CNV deletion 16902084
nsv425 CNV insertion 18451855
nsv468780 CNV loss 19166990
nsv507606 OTHER sequence alteration 20534489
nsv510266 OTHER sequence alteration 20534489
nsv516008 CNV loss 19592680
nsv526075 CNV loss 19592680
nsv555718 CNV loss 21841781
nsv555719 CNV loss 21841781
nsv555728 CNV loss 21841781
nsv555729 CNV loss 21841781
nsv555730 CNV loss 21841781
nsv555731 CNV loss 21841781
nsv8853 CNV gain 18304495
nsv983049 CNV duplication 23825009

Variation tolerance for GRM5 Gene

Residual Variation Intolerance Score: 2.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRM5 Gene

Human Gene Mutation Database (HGMD)
GRM5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRM5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRM5 Gene

Disorders for GRM5 Gene

MalaCards: The human disease database

(32) MalaCards diseases for GRM5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • fxs
fragile x-associated tremor/ataxia syndrome
  • fragile x tremor/ataxia syndrome
central nervous system disease
  • cns
alcohol use disorder
  • alcohol dependence
temporal lobe epilepsy
  • epilepsy, temporal lobe
- elite association - COSMIC cancer census association via MalaCards
Search GRM5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GRM5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GRM5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRM5 Gene

Publications for GRM5 Gene

  1. Molecular cloning and the functional expression of two isoforms of human metabotropic glutamate receptor subtype 5. (PMID: 7908515) Minakami R … Sugiyama H (Biochemical and biophysical research communications 1994) 2 3 4 23 54
  2. A variant of metabotropic glutamate receptor subtype 5: an evolutionally conserved insertion with no termination codon. (PMID: 7688218) Minakami R … Sugiyama H (Biochemical and biophysical research communications 1993) 3 4 23 54
  3. A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. (PMID: 28130356) Stephenson JR … Colbran RJ (The Journal of neuroscience : the official journal of the Society for Neuroscience 2017) 3 4 54
  4. Genome-wide association study in German patients with attention deficit/hyperactivity disorder. (PMID: 22012869) Hinney A … Psychiatric GWAS Consortium: ADHD subgroup (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011) 3 41 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54

Products for GRM5 Gene

Sources for GRM5 Gene