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GLRA4 glycine receptor alpha 4 (pseudogene) [ Homo sapiens (human) ]

Gene ID: 441509, updated on 5-Mar-2024

Summary

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Official Symbol
GLRA4provided by HGNC
Official Full Name
glycine receptor alpha 4 (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:31715
See related
AllianceGenome:HGNC:31715
Gene type
pseudo
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Biased expression in testis (RPKM 1.3), endometrium (RPKM 0.5) and 5 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
Xq22.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103705494..103728495, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102152460..102175469, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (102960422..102983423, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CNEP1R1 pseudogene 1 Neighboring gene mortality factor 4 like 2 Neighboring gene MORF4L2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:102951966-102952716 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:102952717-102953467 Neighboring gene transmembrane protein 31 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102985791-102986664 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102996691-102997226 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102997227-102997764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103009420-103009920 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103020819-103021470 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:103022123-103022774 Neighboring gene RAB9B, member RAS oncogene family Neighboring gene proteolipid protein 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:103061708-103062907 Neighboring gene RNA, 5S ribosomal pseudogene 511

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies. Labonne JD, et al. BMC Neurol, 2016 Aug 9. PMID 27506666, Free PMC Article
  2. Analysis of the set of GABA(A) receptor genes in the human genome. Simon J, et al. J Biol Chem, 2004 Oct 1. PMID 15258161
  3. Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses. Leacock S, et al. Front Mol Neurosci, 2018. PMID 29445326, Free PMC Article
  4. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880
  5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Other Names

  • glycine receptor subunit alpha-4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021199.1 RefSeqGene

    Range
    5001..26281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. NR_164162.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049610, Z93848

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    103705494..103728495 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    102152460..102175469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001024452.2: Suppressed sequence

    Description
    NM_001024452.2: This RefSeq was removed because it is now thought that this gene is a pseudogene.

  2. NM_001172285.1: Suppressed sequence

    Description
    NM_001172285.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.
Nucleotide Protein
Heading Accession and Version

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