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    GYPE glycophorin E (MNS blood group) [ Homo sapiens (human) ]

    Gene ID: 2996, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GYPEprovided by HGNC
    Official Full Name
    glycophorin E (MNS blood group)provided by HGNC
    Primary source
    HGNC:HGNC:4705
    See related
    Ensembl:ENSG00000197465 MIM:138590; AllianceGenome:HGNC:4705
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPE; MNS; GYPA; MiIX
    Summary
    The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 2.0), lung (RPKM 1.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GYPE in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (143870864..143905559, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (147188085..147229674, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (144792017..144826712, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ethanolamine kinase 1 pseudogene Neighboring gene uncharacterized LOC105377458 Neighboring gene uncharacterized LOC105377459 Neighboring gene salvador family WW domain containing protein 1 pseudogene Neighboring gene uncharacterized LOC101927636

    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 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 novel St(a) glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene. Huang CH, et al. Hum Mutat, 2000. PMID 10862083
    2. Contribution of gene conversion to the retention of the sequence for M blood group type determinant in glycophorin E gene. Kudo S, et al. J Biol Chem, 1994 Sep 16. PMID 7521873
    3. A novel gene member of the human glycophorin A and B gene family. Molecular cloning and expression. Vignal A, et al. Eur J Biochem, 1990 Aug 17. PMID 2390989
    4. Promoter sequence and chromosomal organization of the genes encoding glycophorins A, B and E. Vignal A, et al. Gene, 1990 Nov 15. PMID 2249783
    5. Human erythrocyte glycophorins: protein and gene structure analyses. Cartron JP, et al. Transfus Med Rev, 1992 Apr. PMID 1591491

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel hybrid genes and a splice site mutation encoding the St(a) antigen among Japanese blood donors.
      Title: Novel hybrid genes and a splice site mutation encoding the St(a) antigen among Japanese blood donors.
    2. Structural variation of the malaria-associated human glycophorin A-B-E region.
      Title: Structural variation of the malaria-associated human glycophorin A-B-E region.
    Submit: New GeneRIF Correction

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    glycophorin-E
    Names
    glycophorin A

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_009173.1 RefSeqGene

      Range
      5005..39700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002102.4 → NP_002093.2  glycophorin-E precursor

      See identical proteins and their annotated locations for NP_002093.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 3' UTR compared to variant 2. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      BC017864, BG528203, BX091225, M29610
      Consensus CDS
      CCDS47138.1
      UniProtKB/Swiss-Prot
      D3DNZ5, P15421
      Related
      ENSP00000400698.2, ENST00000437468.2
      Conserved Domains (1) summary
      pfam01102
      Location:55 → 78
      Glycophorin_A; Glycophorin A

    2. NM_198682.3 → NP_941391.2  glycophorin-E precursor

      See identical proteins and their annotated locations for NP_941391.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC109812, BC017864, BC064396
      Consensus CDS
      CCDS47138.1
      UniProtKB/Swiss-Prot
      D3DNZ5, P15421
      Related
      ENSP00000351430.4, ENST00000358615.9
      Conserved Domains (1) summary
      pfam01102
      Location:55 → 78
      Glycophorin_A; Glycophorin A

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      143870864..143905559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      147188085..147229674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349857.1 → XP_054205832.1  glycophorin-E isoform X1

    2. XM_054349858.1 → XP_054205833.1  glycophorin-E isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15421.2 GenPept UniProtKB/Swiss-Prot:P15421

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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