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Aliases for GYPB Gene

Aliases for GYPB Gene

  • Glycophorin B (MNS Blood Group) 2 3 5
  • SS-Active Sialoglycoprotein 3 4
  • Sialoglycoprotein Delta 3 4
  • PAS-3 3 4
  • GPB 3 4
  • Glycophorin B/Glycophorin A Fusion Protein 3
  • Glycophorin B (Includes Ss Blood Group) 2
  • Glycophorin B (Ss Blood Group) 2
  • Hybrid Glycophorin Kip 3
  • GYPB/GYPA Fusion 3
  • Glycophorin Hop 3
  • Ss Blood Group 3
  • CD235b Antigen 4
  • Glycophorin-B 3
  • CD235b 3
  • MNS 3
  • GYP 3
  • SS 3

External Ids for GYPB Gene

Previous HGNC Symbols for GYPB Gene

  • MNS

Previous GeneCards Identifiers for GYPB Gene

  • GC04M145713
  • GC04M145292
  • GC04M145495
  • GC04M145496
  • GC04M145274
  • GC04M145136
  • GC04M144918

Summaries for GYPB Gene

Entrez Gene Summary for GYPB Gene

  • 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]

GeneCards Summary for GYPB Gene

GYPB (Glycophorin B (MNS Blood Group)) is a Protein Coding gene. Diseases associated with GYPB include Short Stature, Idiopathic Familial and Leri-Weill Dyschondrosteosis. Among its related pathways are Malaria. An important paralog of this gene is GYPE.

UniProtKB/Swiss-Prot for GYPB Gene

  • This protein is a minor sialoglycoprotein in erythrocyte membranes.

Gene Wiki entry for GYPB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GYPB Gene

Genomics for GYPB Gene

Regulatory Elements for GYPB Gene

Enhancers for GYPB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GYPB on UCSC Golden Path with GeneCards custom track

Genomic Location for GYPB Gene

Chromosome:
4
Start:
143,995,188 bp from pter
End:
144,019,427 bp from pter
Size:
24,240 bases
Orientation:
Minus strand

Genomic View for GYPB Gene

Genes around GYPB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GYPB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GYPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GYPB Gene

Proteins for GYPB Gene

  • Protein details for GYPB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06028-GLPB_HUMAN
    Recommended name:
    Glycophorin-B
    Protein Accession:
    P06028
    Secondary Accessions:
    • B8Q174
    • E2QBW7
    • Q0VAF4
    • Q58HE9
    • Q58HF0
    • Q58HF1
    • Q9UCH7

    Protein attributes for GYPB Gene

    Size:
    91 amino acids
    Molecular mass:
    9782 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GYPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GYPB Gene

Post-translational modifications for GYPB Gene

  • The N-terminal extracellular domain is heavily glycosylated on serine and threonine residues.
  • Glycosylation at Thr 36, Ser 38, and Thr 44
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GYPB Gene

Domains & Families for GYPB Gene

Gene Families for GYPB Gene

Protein Domains for GYPB Gene

Graphical View of Domain Structure for InterPro Entry

P06028

UniProtKB/Swiss-Prot:

GLPB_HUMAN :
  • Belongs to the glycophorin-A family.
Family:
  • Belongs to the glycophorin-A family.
genes like me logo Genes that share domains with GYPB: view

Function for GYPB Gene

Molecular function for GYPB Gene

GENATLAS Biochemistry:
glycophorin B (Ss specifity)
UniProtKB/Swiss-Prot Function:
This protein is a minor sialoglycoprotein in erythrocyte membranes.

Gene Ontology (GO) - Molecular Function for GYPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GYPB: view

Phenotypes for GYPB Gene

genes like me logo Genes that share phenotypes with GYPB: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GYPB

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GYPB Gene

Localization for GYPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GYPB Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GYPB Gene COMPARTMENTS Subcellular localization image for GYPB gene
Compartment Confidence
plasma membrane 5
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for GYPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS 2295603
GO:0005887 integral component of plasma membrane TAS 7622054
genes like me logo Genes that share ontologies with GYPB: view

Pathways & Interactions for GYPB Gene

SuperPathways for GYPB Gene

Superpath Contained pathways
1 Malaria
genes like me logo Genes that share pathways with GYPB: view

Pathways by source for GYPB Gene

1 KEGG pathway for GYPB Gene

Gene Ontology (GO) - Biological Process for GYPB Gene

None

No data available for SIGNOR curated interactions for GYPB Gene

Drugs & Compounds for GYPB Gene

(7) Drugs for GYPB Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Experimental Pharma 210
Sorbitol Approved Pharma 29
D-Myo-Inositol-1,4-Bisphosphate Experimental Pharma 0

(10) Additional Compounds for GYPB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
Epimelibiose
Galactosylglycerol
  • (2R,3R,4S,5R,6R)-2-[(2R)-2,3-dihydroxypropoxy]-6-(hydroxymethyl)oxane-3,4,5-triol
  • 3-b-D-Galactosyl-sn-glycerol
  • 3-beta-D-Galactosyl-sn-glycerol
  • 3-beta-delta-Galactosyl-sn-glycerol
  • Azepan-2-one
Melibiitol
  • 6-O-alpha-D-Galactosyl-D-glucitol
  • 6-O-alpha-delta-Galactosyl-delta-glucitol
genes like me logo Genes that share compounds with GYPB: view

Transcripts for GYPB Gene

Unigene Clusters for GYPB Gene

Glycophorin B (MNS blood group):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GYPB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GYPB Gene

No ASD Table

Relevant External Links for GYPB Gene

GeneLoc Exon Structure for
GYPB
ECgene alternative splicing isoforms for
GYPB

Expression for GYPB Gene

mRNA expression in normal human tissues for GYPB Gene

mRNA differential expression in normal tissues according to GTEx for GYPB Gene

This gene is overexpressed in Whole Blood (x46.6).

NURSA nuclear receptor signaling pathways regulating expression of GYPB Gene:

GYPB

SOURCE GeneReport for Unigene cluster for GYPB Gene:

Hs.654368
genes like me logo Genes that share expression patterns with GYPB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GYPB Gene

Orthologs for GYPB Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for GYPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GYPE 35
  • 82 (a)
OneToOne
Species where no ortholog for GYPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GYPB Gene

ENSEMBL:
Gene Tree for GYPB (if available)
TreeFam:
Gene Tree for GYPB (if available)

Paralogs for GYPB Gene

Paralogs for GYPB Gene

Pseudogenes.org Pseudogenes for GYPB Gene

genes like me logo Genes that share paralogs with GYPB: view

Variants for GYPB Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GYPB Gene

GLPB_HUMAN-P06028
Along with GYPA, GYPB is responsible for the MNS blood group system. The molecular basis of the S/s blood group antigen is a single variation in position 48; Thr-48 corresponds to s=MSN4 and Met-48 to S=MNS3.

Sequence variations from dbSNP and Humsavar for GYPB Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs7683365 - 143,999,443(+) GTCCC(A/G)TTTCT reference, missense
rs1132783 - 143,997,559(-) TTACA(C/G)TATTC reference, missense
rs199937833 - 144,001,256(+) CAGTG(C/G)TACTT reference, missense, utr-variant-5-prime
rs370332485 - 143,999,425(+) TGAAA(A/C/T)GATGG reference, missense
rs374811215 - 143,999,413(+) TACCT(C/G)GTACA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GYPB Gene

Variant ID Type Subtype PubMed ID
dgv127e203 CNV gain+loss 21179565
dgv189e55 CNV gain 17911159
dgv2914n106 CNV duplication 24896259
dgv5416n100 CNV loss 25217958
dgv5417n100 CNV gain 25217958
dgv5418n100 CNV gain 25217958
dgv5419n100 CNV gain 25217958
dgv5420n100 CNV loss 25217958
dgv5421n100 CNV gain 25217958
dgv5422n100 CNV loss 25217958
dgv5423n100 CNV loss 25217958
dgv5425n100 CNV loss 25217958
dgv5426n100 CNV gain 25217958
dgv5427n100 CNV loss 25217958
dgv5428n100 CNV loss 25217958
dgv5429n100 CNV loss 25217958
dgv5430n100 CNV gain 25217958
dgv5431n100 CNV gain+loss 25217958
dgv667n27 CNV gain 19166990
dgv668n27 CNV gain 19166990
dgv669n27 CNV gain 19166990
dgv9297n54 CNV gain 21841781
dgv978e199 CNV deletion 23128226
esv2421355 CNV deletion 20811451
esv2662558 CNV deletion 23128226
esv2668125 CNV deletion 23128226
esv2728476 CNV deletion 23290073
esv2728480 CNV deletion 23290073
esv2728481 CNV deletion 23290073
esv2752026 CNV gain 17911159
esv2752030 CNV gain 17911159
esv2759288 CNV gain+loss 17122850
esv29621 CNV gain+loss 19812545
esv34775 CNV loss 17911159
esv34834 CNV gain 17911159
esv3602516 CNV loss 21293372
esv3602521 CNV loss 21293372
esv3602527 CNV loss 21293372
esv3602528 CNV loss 21293372
esv3894042 CNV gain 25118596
esv3894044 CNV gain 25118596
esv3894047 CNV gain 25118596
esv3894048 CNV gain 25118596
nsv1019176 CNV loss 25217958
nsv1020719 CNV gain 25217958
nsv1022823 CNV loss 25217958
nsv1023490 CNV gain+loss 25217958
nsv1023589 CNV gain 25217958
nsv1024138 CNV loss 25217958
nsv1030924 CNV loss 25217958
nsv10584 CNV gain+loss 18304495
nsv1126044 CNV deletion 24896259
nsv428452 CNV loss 18775914
nsv435807 CNV deletion 17901297
nsv436078 CNV insertion 17901297
nsv436411 CNV deletion 17901297
nsv436452 CNV deletion 17901297
nsv436881 CNV insertion 17901297
nsv437438 CNV loss 16327808
nsv437439 CNV loss 16327808
nsv441919 CNV gain+loss 18776908
nsv461664 CNV gain 19166990
nsv461665 CNV loss 19166990
nsv469732 CNV gain 16826518
nsv514257 CNV gain 21397061
nsv517006 CNV gain+loss 19592680
nsv595607 CNV gain 21841781
nsv595609 CNV loss 21841781
nsv595612 CNV loss 21841781
nsv818281 CNV loss 17921354
nsv818282 CNV gain 17921354
nsv822759 CNV gain 20364138
nsv967799 CNV duplication 23825009

Variation tolerance for GYPB Gene

Residual Variation Intolerance Score: 94.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GYPB Gene

Human Gene Mutation Database (HGMD)
GYPB
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GYPB

Disorders for GYPB Gene

MalaCards: The human disease database

(8) MalaCards diseases for GYPB Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
short stature, idiopathic familial
  • short stature, idiopathic, x-linked
leri-weill dyschondrosteosis
  • leri weill dyschondrosteosis
langer mesomelic dysplasia
  • dyschondrosteosis, homozygous
malaria
  • malaria, severe
retinohepatoendocrinologic syndrome
  • rh deficiency syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GYPB in MalaCards View complete list of genes associated with diseases

Relevant External Links for GYPB

Genetic Association Database (GAD)
GYPB
Human Genome Epidemiology (HuGE) Navigator
GYPB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GYPB
genes like me logo Genes that share disorders with GYPB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GYPB Gene

Publications for GYPB Gene

  1. The genotypes of GYPA and GYPB carrying the MNSs antigens are not associated with cerebral malaria. (PMID: 17372674) Naka I. … Tokunaga K. (J. Hum. Genet. 2007) 3 22 46 65
  2. The low-incidence MNS antigens M(v), s(D), and Mit arise from single amino acid substitutions on GPB. (PMID: 11239234) Storry J.R. … Nortman P. (Transfusion 2001) 3 4 22 65
  3. MNS blood group system: a review. (PMID: 20406014) Reid M.E. (Immunohematology 2009) 3 22 65
  4. Introduction of a real-time-based blood-group genotyping approach. (PMID: 18510579) Polin H. … Gabriel C. (Vox Sang. 2008) 3 46 65
  5. An alloantibody to a high-prevalence MNS antigen in a person with a GP.JL/Mk phenotype. (PMID: 18284304) Ratliff J. … Reid M.E. (Immunohematology 2007) 3 22 65

Products for GYPB Gene

Sources for GYPB Gene

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