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    GYPB glycophorin B (MNS blood group) [ Homo sapiens (human) ]

    Gene ID: 2994, updated on 11-Apr-2024

    Summary

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    Official Symbol
    GYPBprovided by HGNC
    Official Full Name
    glycophorin B (MNS blood group)provided by HGNC
    Primary source
    HGNC:HGNC:4703
    See related
    Ensembl:ENSG00000250361 MIM:617923; AllianceGenome:HGNC:4703
    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
    SS; GPB; GYP; MNS; GYPA; PAS-3; CD235b
    Summary
    Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
    Expression
    Restricted expression toward bone marrow (RPKM 2.7) See more
    Orthologs
    all
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    Genomic context

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    Location:
    4q31.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (143995188..144019380, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (147311615..147336796, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (144917257..144940533, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377459 Neighboring gene uncharacterized LOC101927636 Neighboring gene uncharacterized LOC124900790 Neighboring gene uncharacterized LOC105377460 Neighboring gene glycophorin A (MNS blood group) Neighboring gene uncharacterized LOC105377462 Neighboring gene NANOG hESC enhancer GRCh37_chr4:145209206-145209729 Neighboring gene VISTA enhancer hs906 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:145312958-145313150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21957

    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. Molecular genetic analysis of Mi(a) -positive hybrid glycophorins revealed two novel alleles of GP.Vw and multiple variant transcripts of GYPB existing in both the homozygous GP.Mur and wild-type GPB individuals. Wei L, et al. Transfusion, 2021 Aug. PMID 34117642
    2. A pair of S-silencing single nucleotide variants cis-linked on GYPB. Lapadat R, et al. Transfusion, 2021 Apr. PMID 33733475
    3. High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies. Amuzu DS, et al. Exp Biol Med (Maywood), 2021 Apr. PMID 33325748, Free PMC Article
    4. Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry. Lane WJ, et al. Transfusion, 2020 Jun. PMID 32473076
    5. An unusual variant glycophorin expressing protease-resistant M antigen encoded by the GYPB-E(2-4)-B hybrid gene. Tsuneyama H, et al. Vox Sang, 2020 Oct. PMID 32314425

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The study of variant s antigen expression revealing a novel c.160C>T (p.Arg54Cys) variant on GYPB*s allele associated with partial s phenotype.
      Title: The study of variant s antigen expression revealing a novel c.160C>T (p.Arg54Cys) variant on GYPB*s allele associated with partial s phenotype.
    2. Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles.
      Title: Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles.
    3. Characterization of alternatively spliced transcript variants of glycophorin A and glycophorin B genes in Chinese blood donors.
      Title: Characterization of alternatively spliced transcript variants of glycophorin A and glycophorin B genes in Chinese blood donors.
    4. Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network.
      Title: Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network.
    5. High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies.
      Title: High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies.
    6. A pair of S-silencing single nucleotide variants cis-linked on GYPB.
      Title: A pair of S-silencing single nucleotide variants cis-linked on GYPB.
    7. Molecular genetic analysis of Mi(a) -positive hybrid glycophorins revealed two novel alleles of GP.Vw and multiple variant transcripts of GYPB existing in both the homozygous GP.Mur and wild-type GPB individuals.
      Title: Molecular genetic analysis of Mi(a) -positive hybrid glycophorins revealed two novel alleles of GP.Vw and multiple variant transcripts of GYPB existing in both the homozygous GP.Mur and wild-type GPB individuals.
    8. Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry.
      Title: Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry.
    9. 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.
    10. An unusual variant glycophorin expressing protease-resistant M antigen encoded by the GYPB-E(2-4)-B hybrid gene.
      Title: An unusual variant glycophorin expressing protease-resistant M antigen encoded by the GYPB-E(2-4)-B hybrid gene.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    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

    Associated conditions

    Description Tests
    BLOOD GROUP, Ss
    MedGen: C4551874 OMIM: 111740 GeneReviews: Not available
    		not available
    Malaria, susceptibility to
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    		Compare labs

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of ankyrin-1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    glycophorin-B
    Names
    GYPB-A fusion
    GYPB-A-B fusion
    GYPB/GYPA fusion
    SS-active sialoglycoprotein
    Ss blood group
    Ss sialoglycoprotein
    blood group system MNSs, Mur-like
    blood group system MNSs, St(a) type E
    blood group system MNSs, St(a) type F
    glycophorin A
    glycophorin B blood group antigen
    glycophorin B transcript
    glycophorin B, blood group system Ss, S, Mit+
    glycophorin B/glycophorin A fusion protein
    glycophorin Hop
    hybrid glycophorin Kip
    sialoglycoprotein delta

    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_007483.3 RefSeqGene

      Range
      7482..30758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_794

    mRNA and Protein(s)

    1. NM_001304382.1 → NP_001291311.1  glycophorin-B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in its 5' UTR and initiates translation at an in-frame downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC093890, BC069310, X08055
      Consensus CDS
      CCDS87264.1
      UniProtKB/TrEMBL
      D6RBP2
      Related
      ENSP00000424025.2, ENST00000506516.6
      Conserved Domains (1) summary
      pfam01102
      Location:17 → 64
      Glycophorin_A; Glycophorin A

    2. NM_002100.6 → NP_002091.4  glycophorin-B isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC093890, BC069310, X08055
      Consensus CDS
      CCDS54809.1
      UniProtKB/Swiss-Prot
      B8Q174, E2QBW7, P06028, Q0VAF4, Q58HE9, Q58HF0, Q58HF1, Q9UCH7
      UniProtKB/TrEMBL
      A0A1E1JP59
      Related
      ENSP00000427690.1, ENST00000502664.6
      Conserved Domains (1) summary
      pfam01102
      Location:26 → 90
      Glycophorin_A; Glycophorin A

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      143995188..144019380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531904.4 → XP_011530206.1  glycophorin-B isoform X2

      UniProtKB/TrEMBL
      B8Q175
      Conserved Domains (1) summary
      pfam01102
      Location:17 → 81
      Glycophorin_A; Glycophorin A

    2. XM_011531903.3 → XP_011530205.1  glycophorin-B isoform X1

      UniProtKB/TrEMBL
      A0A1E1JP59
      Conserved Domains (1) summary
      pfam01102
      Location:26 → 90
      Glycophorin_A; Glycophorin A

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      147311615..147336796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349852.1 → XP_054205827.1  glycophorin-B isoform X1

    2. XM_054349853.1 → XP_054205828.1  glycophorin-B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P06028.3 GenPept UniProtKB/Swiss-Prot:P06028

    Gene LinkOut

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