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

Gene ID: 2994, updated on 17-Oct-2021

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
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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See GYPB in Genome Data Viewer
Location:
4q31.21
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (143995172..144021861, complement)
105.20201022 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 glycophorin E (MNS blood group) Neighboring gene salvador family WW domain containing protein 1 pseudogene Neighboring gene uncharacterized LOC101927636 Neighboring gene uncharacterized LOC105377460 Neighboring gene uncharacterized LOC107986317 Neighboring gene glycophorin A (MNS blood group)

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 Mia -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 (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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<sup>a</sup> -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.
  4. 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.
  5. 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<sup>a</sup> antigen among Japanese blood donors.
  6. 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.
  7. 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.
  8. Characterization of GYP*Mur and novel GYP*Bun-like hybrids in Thai blood donors reveals a qualitatively altered s antigen.
    Title: Characterization of GYP*Mur and novel GYP*Bun-like hybrids in Thai blood donors reveals a qualitatively altered s antigen.
  9. A GYPB variant encoding an altered leader peptide leads to a weak S phenotype.
    Title: A GYPB variant encoding an altered leader peptide leads to a weak S phenotype.
  10. A novel c.166A>T (p.Thr56Ser) mutation in GYPB*S decreases S antigen expression.
    Title: A novel c.166A&gt;T (p.Thr56Ser) mutation in GYPB*S accounting for unusual S antigen expression.
Submit: New GeneRIF Correction See all GeneRIFs (25)

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
Susceptibility to malaria
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
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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

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
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
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, 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/Swiss-Prot
    P06028
    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
    Related
    ENSP00000427690.1, ENST00000502664.6
    Conserved Domains (1) summary
    pfam01102
    Location:26 → 90
    Glycophorin_A; Glycophorin A

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    143995172..144021861 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531904.3 → XP_011530206.1  glycophorin-B isoform X2

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

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

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

  3. XM_011531905.2 → XP_011530207.1  glycophorin-B isoform X3

    See identical proteins and their annotated locations for XP_011530207.1

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

  4. XM_017008137.1 → XP_016863626.1  glycophorin-B isoform X4

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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