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

Gene ID: 2996, updated on 27-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
  • 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)

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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