This gene encodes a glycine receptor and member of the ligand-gated ion channel family of proteins. The encoded protein is missing the fourth transmembrane region compared to related proteins in mouse and rat, and experimental data suggests that the human protein is functionally inactive. However, there is strong evidence to support transcription of this gene. As a result, RefS... See more...

Aliases for GLRA4 Gene

Aliases for GLRA4 Gene

  • Glycine Receptor Alpha 4 (Pseudogene) 2 3
  • Glycine Receptor Alpha 4 2 5 13
  • Glycine Receptor Subunit Alpha-4 3

External Ids for GLRA4 Gene

Previous GeneCards Identifiers for GLRA4 Gene

  • GC0XM102779
  • GC0XU900745
  • GC0XM102849
  • GC0XM102962
  • GC0XM092619

Summaries for GLRA4 Gene

Entrez Gene Summary for GLRA4 Gene

  • This gene encodes a glycine receptor and member of the ligand-gated ion channel family of proteins. The encoded protein is missing the fourth transmembrane region compared to related proteins in mouse and rat, and experimental data suggests that the human protein is functionally inactive. However, there is strong evidence to support transcription of this gene. As a result, RefSeq, in collaboration with Ensembl-GENCODE, has determined that this locus is best described as a transcribed pseudogene. [provided by RefSeq, Aug 2019]

GeneCards Summary for GLRA4 Gene

GLRA4 (Glycine Receptor Alpha 4 (Pseudogene)) is a Pseudogene. Diseases associated with GLRA4 include Hyperekplexia and Stiff-Person Syndrome. Among its related pathways are DAG and IP3 signaling and Ligand-gated ion channel transport. Gene Ontology (GO) annotations related to this gene include chloride channel activity and glycine binding. An important paralog of this gene is GLRA2.

Tocris Summary for GLRA4 Gene

  • Glycine receptors (GlyR) are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of glycine. They are widely distributed throughout the CNS, particularly within the hippocampus, spinal cord and brain stem.

Gene Wiki entry for GLRA4 Gene

Additional gene information for GLRA4 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLRA4 Gene

Genomics for GLRA4 Gene

GeneHancer (GH) Regulatory Elements for GLRA4 Gene

Promoters and enhancers for GLRA4 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
GH0XJ103729 Enhancer 1.1 FANTOM5 Ensembl ENCODE 500.7 -1.1 -1145 6 ZNF10 ZIC2 TRIM28 ATF2 ZBTB17 FOS POLR2A KLF8 MAFK ZBTB48 GLRA4 PLP1 BEX4 BEX2 lnc-PLP1-1
GH0XJ103766 Promoter/Enhancer 0.6 EPDnew ENCODE 506.2 -38.6 -38569 1.2 REST GLRA4 TMEM31 piR-38129-123 PLP1
GH0XJ103701 Enhancer 0.3 dbSUPER 13.2 +23.4 23394 7 ZNF664 ZNF596 GLRA4 PLP1 TCEAL3 BEX4 BEX2 TMEM31 MORF4L2
GH0XJ103774 Enhancer 0.6 Ensembl dbSUPER 5.9 -46.0 -46011 1.1 CTCF RAD21 SMC3 PLP1 GLRA4 RF00017-8598
GH0XJ103782 Enhancer 0.5 Ensembl ENCODE dbSUPER 4.9 -55.0 -54951 2.1 RF00017-8598 GLRA4 TMSB15B BEX2 PLP1 lnc-RAB9B-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLRA4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLRA4

Top Transcription factor binding sites by QIAGEN in the GLRA4 gene promoter:
  • AML1a
  • C/EBPbeta
  • GATA-1
  • GATA-2
  • GATA-3
  • Lmo2
  • RORalpha2
  • S8
  • Sox9

Genomic Locations for GLRA4 Gene

Genomic Locations for GLRA4 Gene
chrX:103,707,224-103,728,655
(GRCh38/hg38)
Size:
21,432 bases
Orientation:
Minus strand
chrX:102,962,152-102,983,583
(GRCh37/hg19)
Size:
21,432 bases
Orientation:
Minus strand

Genomic View for GLRA4 Gene

Genes around GLRA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLRA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLRA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLRA4 Gene

Proteins for GLRA4 Gene

  • Protein details for GLRA4 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    F8WCE1-F8WCE1_HUMAN
    Recommended name:
    Glycine receptor alpha 4
    Protein Accession:
    F8WCE1

    Protein attributes for GLRA4 Gene

    Size:
    44 amino acids
    Molecular mass:
    4860 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GLRA4 Gene

Post-translational modifications for GLRA4 Gene

No Post-translational modifications

Other Protein References for GLRA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GLRA4 Gene

Domains & Families for GLRA4 Gene

Gene Families for GLRA4 Gene

Protein Domains for GLRA4 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for GLRA4 Gene

GenScript: Design optimal peptide antigens:
  • Glycine receptor subunit alpha-4 (GLRA4_HUMAN)
genes like me logo Genes that share domains with GLRA4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GLRA4 Gene

Function for GLRA4 Gene

Gene Ontology (GO) - Molecular Function for GLRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IBA --
GO:0005254 chloride channel activity IBA --
GO:0016594 glycine binding IBA --
GO:0016934 extracellularly glycine-gated chloride channel activity IEA --
genes like me logo Genes that share ontologies with GLRA4: view
genes like me logo Genes that share phenotypes with GLRA4: view

Animal Models for GLRA4 Gene

MGI Knock Outs for GLRA4:
  • Glra4 Glra4<tm1b(KOMP)Wtsi>

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GLRA4 Gene

Localization for GLRA4 Gene

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 GLRA4 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GLRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GLRA4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GLRA4 Gene

Pathways & Interactions for GLRA4 Gene

genes like me logo Genes that share pathways with GLRA4: view

Pathways by source for GLRA4 Gene

1 GeneGo (Thomson Reuters) pathway for GLRA4 Gene
  • Neurophysiological process PGE2-induced pain processing

Interacting Proteins for GLRA4 Gene

;

Gene Ontology (GO) - Biological Process for GLRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IBA --
GO:0007218 neuropeptide signaling pathway IBA --
GO:0007268 chemical synaptic transmission IBA --
genes like me logo Genes that share ontologies with GLRA4: view

No data available for SIGNOR curated interactions for GLRA4 Gene

Drugs & Compounds for GLRA4 Gene

(7) Drugs for GLRA4 Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Memantine Approved, Investigational Pharma Channel blocker, Target, inhibitor 210
Taurine Approved Nutra Non-selective, endogenous glycine receptor partial agonist 43
Chloride ion Experimental Pharma 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
Serine Investigational Nutra Full agonist, Agonist Weak endogenous glycine receptor agonist 1328

(5) Tocris Compounds for GLRA4 Gene

Compound Action Cas Number
beta-Alanine Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 107-95-9
Hypotaurine Non-selective endogenous glycine receptor agonist 300-84-5
L-Alanine Glycine receptor agonist 56-41-7
L-Serine Weak endogenous glycine receptor agonist 56-45-1
Taurine Non-selective, endogenous glycine receptor partial agonist 107-35-7

(1) ApexBio Compounds for GLRA4 Gene

Compound Action Cas Number
Hypotaurine 300-84-5
genes like me logo Genes that share compounds with GLRA4: view

Drug Products

Transcripts for GLRA4 Gene

mRNA/cDNA for GLRA4 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLRA4 Gene

No ASD Table

Relevant External Links for GLRA4 Gene

GeneLoc Exon Structure for
GLRA4

Expression for GLRA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLRA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLRA4 Gene

This gene is overexpressed in Brain - Cerebellum (x4.7) and Brain - Cerebellar Hemisphere (x4.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLRA4

SOURCE GeneReport for Unigene cluster for GLRA4 Gene:

Hs.533289
genes like me logo Genes that share expression patterns with GLRA4: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLRA4 Gene

Orthologs for GLRA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLRA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLRA4 31 30
  • 99.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLRA4 31 30
  • 92.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glra4 17 31 30
  • 90.06 (n)
rat
(Rattus norvegicus)
Mammalia Glra4 30
  • 89.5 (n)
cow
(Bos Taurus)
Mammalia GLRA4 31
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLRA4 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLRA4 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLRA4 31 30
  • 80.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLRA4 31
  • 75 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii glra4a 31 30
  • 76.75 (n)
OneToMany
glra4b 31
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rdl 30
  • 51.45 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006028 30
  • 49.63 (n)
worm
(Caenorhabditis elegans)
Secernentea lgc-38 30
  • 53.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Species where no ortholog for GLRA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GLRA4 Gene

ENSEMBL:
Gene Tree for GLRA4 (if available)
TreeFam:
Gene Tree for GLRA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLRA4: view image

Paralogs for GLRA4 Gene

Variants for GLRA4 Gene

Additional dbSNP identifiers (rs#s) for GLRA4 Gene

Variation tolerance for GLRA4 Gene

Residual Variation Intolerance Score: 79.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 78.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLRA4 Gene

Human Gene Mutation Database (HGMD)
GLRA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLRA4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for GLRA4 Gene

Disorders for GLRA4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GLRA4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hyperekplexia
  • startle disease, familial
stiff-person syndrome
  • sps
glycine encephalopathy
  • gce
amnestic disorder
  • amnesia
- elite association - COSMIC cancer census association via MalaCards
Search GLRA4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GLRA4

genes like me logo Genes that share disorders with GLRA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLRA4 Gene

Publications for GLRA4 Gene

  1. Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses. (PMID: 29445326) Leacock S … Harvey RJ (Frontiers in molecular neuroscience 2018) 2 3 54
  2. A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies. (PMID: 27506666) Labonne JD … Kim HG (BMC neurology 2016) 3 54
  3. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 13 54

Products for GLRA4 Gene

Sources for GLRA4 Gene