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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]
GYPB (Glycophorin B (MNS Blood Group)) is a Protein Coding gene. Diseases associated with GYPB include Malaria and Otopalatodigital Syndrome Spectrum Disorder. Among its related pathways are Cell surface interactions at the vascular wall and Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is GYPA.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J144019 | Promoter | 1 | EPDnew | 600.7 | +2.5 | 2502 | 0.1 | LEF1 IKZF1 DDX20 PKNOX1 MTA1 ZNF24 DPF2 HDAC1 SOX6 GATAD2B | GYPB lnc-GYPB-2 GYPE LOC101927636 ENSG00000251600 | |
GH04J144022 | Enhancer | 0.5 | Ensembl | 600.7 | -0.4 | -440 | 0.6 | CREB1 CTCF ATF2 CHAMP1 RAD21 | GYPB piR-53280-002 LOC101927636 GYPA ENSG00000251600 | |
GH04J144021 | Enhancer | 0.4 | Ensembl | 600.7 | +0.8 | 760 | 1 | CTCF RAD21 CC2D1A | GYPB lnc-GYPB-2 GYPE LOC101927636 ENSG00000251600 | |
GH04J144104 | Enhancer | 1 | FANTOM5 Ensembl | 22 | -82.9 | -82940 | 2.8 | ATF7 LEF1 BRD9 ZNF24 DPF2 SOX6 TCF12 EP300 MNT MGA | GYPA GYPE GYPB ENSG00000250345 LOC107986317 piR-47675-087 LOC105377460 LOC101927636 ENSG00000251600 | |
GH04J143984 | Enhancer | 0.2 | FANTOM5 | 11.8 | +37.3 | 37324 | 0.3 | ENSG00000250345 GYPE GYPA GYPB piR-47675-086 piR-50444-353 LOC101927636 ENSG00000251600 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 7622054 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
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1 | Malaria |
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2 | Cell surface interactions at the vascular wall | ||
3 | Response to elevated platelet cytosolic Ca2+ |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0050900 | leukocyte migration | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Epimelibiose |
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Galactosylglycerol |
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Melibiitol |
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This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | GYPE 31 |
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OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
769215 | Benign: not provided | 143,997,559(-) | C/. | MISSENSE_VARIANT,NO_SEQUENCE_ALTERATION | |
rs1132783 | - | p.Ser84Thr | |||
rs199937833 | - | p.Thr22Ser | |||
rs370332485 | - | p.Arg54His | |||
rs374811215 | - | p.Pro58Arg |
Disorder | Aliases | PubMed IDs |
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malaria |
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otopalatodigital syndrome spectrum disorder |
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melnick-needles syndrome |
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retinohepatoendocrinologic syndrome |
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carrion's disease |
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