Human Gene GYPB (ENST00000502664.6) from GENCODE V44
  Description: Homo sapiens glycophorin B (MNS blood group) (GYPB), transcript variant 1, mRNA. (from RefSeq NM_002100)
RefSeq Summary (NM_002100): 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].
Gencode Transcript: ENST00000502664.6
Gencode Gene: ENSG00000250361.10
Transcript (Including UTRs)
   Position: hg38 chr4:143,996,104-144,019,380 Size: 23,277 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr4:143,996,299-144,019,287 Size: 22,989 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:143,996,104-144,019,380)mRNA (may differ from genome)Protein (91 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GLPB_HUMAN
DESCRIPTION: RecName: Full=Glycophorin-B; AltName: Full=PAS-3; AltName: Full=SS-active sialoglycoprotein; AltName: Full=Sialoglycoprotein delta; AltName: CD_antigen=CD235b; Flags: Precursor;
FUNCTION: This protein is a minor sialoglycoprotein in erythrocyte membranes.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
PTM: The N-terminal extracellular domain is heavily glycosylated on serine and threonine residues.
POLYMORPHISM: 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.
SIMILARITY: Belongs to the glycophorin-A family.
WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=mns";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GYPB
Diseases sorted by gene-association score: malaria* (167), rh deficiency syndrome (10), chronic maxillary sinusitis (9), carrion's disease (8), hereditary spherocytosis (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.83 RPKM in Whole Blood
Total median expression: 4.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.8093-0.191 Picture PostScript Text
3' UTR -28.80195-0.148 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001195 - Glycophorin
IPR018938 - Glycophorin_CS

Pfam Domains:
PF01102 - Glycophorin A

ModBase Predicted Comparative 3D Structure on P06028
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0050900 leukocyte migration

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  S77893 - GPSAT=glycophorin SAT [human, peripheral bloods, mRNA Partial, 407 nt].
X08055 - Human mRNA for erythrocyte membrane glycophorin B.
BC121077 - Homo sapiens glycophorin B (MNS blood group), mRNA (cDNA clone MGC:150348 IMAGE:40119713), complete cds.
BC121078 - Homo sapiens glycophorin B (MNS blood group), mRNA (cDNA clone MGC:150349 IMAGE:40119716), complete cds.
J02982 - Human glycophorin B mRNA, complete cds.
JD413561 - Sequence 394585 from Patent EP1572962.
U05255 - Human glycophorin HeP2 mRNA, partial cds.
JD086330 - Sequence 67354 from Patent EP1572962.
EU338223 - Homo sapiens clone TW369GB3 glycophorin B (GYPB) mRNA, complete cds, alternatively spliced.
EU338224 - Homo sapiens clone TW369GB1 glycophorin B (GYPB) mRNA, complete cds, alternatively spliced.
BC069310 - Homo sapiens glycophorin B (MNS blood group), mRNA (cDNA clone MGC:96895 IMAGE:7262104), complete cds.
EU338225 - Homo sapiens clone AM374GB5 glycophorin B Miltenberger subtype III (GYPB) mRNA, complete cds, alternatively spliced.
EU338226 - Homo sapiens clone AM374GB8 glycophorin B Miltenberger subtype III (GYPB) mRNA, complete cds, alternatively spliced.
EU338227 - Homo sapiens clone AM374GB13 glycophorin B Miltenberger subtype III (GYPB) mRNA, partial cds, alternatively spliced.
EU338228 - Homo sapiens clone AM374GB4 glycophorin B Miltenberger subtype III (GYPB) mRNA, complete cds, alternatively spliced.
EU338229 - Homo sapiens clone AM374GB6 glycophorin B Miltenberger subtype III (GYPB) mRNA, complete cds, alternatively spliced.
EU338230 - Homo sapiens clone AM374GB12 glycophorin B Miltenberger subtype III (GYPB) mRNA, partial cds, alternatively spliced.
EU338235 - Homo sapiens clone AM374GB19 glycophorin B MNS blood group (GYPB) mRNA, complete cds, alternatively spliced.
EU338236 - Homo sapiens clone AM374GB18 glycophorin B MNS blood group (GYPB) mRNA, complete cds, alternatively spliced.
EU338237 - Homo sapiens clone AM374GB20 glycophorin B MNS blood group (GYPB) mRNA, complete cds, alternatively spliced.
EU338238 - Homo sapiens clone AM377GB5 glycophorin B MNS blood group (GYPB) mRNA, complete cds, alternatively spliced.
JD155719 - Sequence 136743 from Patent EP1572962.
JD282821 - Sequence 263845 from Patent EP1572962.
AY950609 - Homo sapiens glycophorin B Mv variant (GYPB) mRNA, complete cds.
AY950610 - Homo sapiens glycophorin B Mit variant (GYPB) mRNA, complete cds.
AY950611 - Homo sapiens glycophorin B sD variant (GYPB) mRNA, complete cds.
AY950612 - Homo sapiens hybrid glycophorin GP.Hop (GYP(B-A-B)) mRNA, complete cds.
HQ448418 - Synthetic construct Homo sapiens clone IMAGE:100071846; CCSB013797_01 glycophorin B (MNS blood group) (GYPB) gene, encodes complete protein.
KJ891317 - Synthetic construct Homo sapiens clone ccsbBroadEn_00711 GYPB gene, encodes complete protein.
KJ896951 - Synthetic construct Homo sapiens clone ccsbBroadEn_06345 GYPB gene, encodes complete protein.
KR711936 - Synthetic construct Homo sapiens clone CCSBHm_00032306 GYPB (GYPB) mRNA, encodes complete protein.
AY509882 - Homo sapiens glycophorin B NY variant (GYPB) mRNA, complete cds.
AY509883 - Homo sapiens glycophorin B HE.NY variant (GYPB) mRNA, complete cds.
S77082 - GYPA (GYPA N)=glycophorin A [human, cell lines K562 and HEL, peripheral blood reticulocytes, mRNA Partial Mutant, 75 nt].
JD162955 - Sequence 143979 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P06028 (Reactome details) participates in the following event(s):

R-HSA-8867098 Glycophorins bind plasmodium falciparum Ags
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: E2QBW7, ENST00000502664.1, ENST00000502664.2, ENST00000502664.3, ENST00000502664.4, ENST00000502664.5, GLPB_HUMAN, GPB, NM_002100, P06028, Q0VAF4, Q58HE9, Q58HF0, Q58HF1, Q9UCH7, uc003ijm.1, uc003ijm.2, uc003ijm.3
UCSC ID: ENST00000502664.6
RefSeq Accession: NM_002100
Protein: P06028 (aka GLPB_HUMAN)
CCDS: CCDS54809.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.