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

    Gene ID: 441509, updated on 2-Nov-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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    See GLRA4 in Genome Data Viewer
    Location:
    Xq22.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103705494..103728495, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102152460..102175469, complement)
    RS_2024_09 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)

    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_2024_08

    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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