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Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
GYPC (Glycophorin C (Gerbich Blood Group)) is a Protein Coding gene. Diseases associated with GYPC include Blood Group, Gerbich System and Malaria. Among its related pathways are Cell surface interactions at the vascular wall and Response to elevated platelet cytosolic Ca2+.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16669616 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | NAS,TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 2416746 |
GO:0016020 | membrane | IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030863 | cortical cytoskeleton | IBA,IDA | 16669616 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Malaria |
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|
|
2 | Cell surface interactions at the vascular wall | ||
3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0050900 | leukocyte migration | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | - | |||||||||||||||||
SP3: | - | - | - | ||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GYPC 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gypc 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gypc 30 |
|
||
Dog (Canis familiaris) |
Mammalia | GYPC 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GPC 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GYPC 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GYPC 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GYPC 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GYPC 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | gypc 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2910 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
719629 | Benign: not provided | 126,695,967(+) | T/C | MISSENSE_VARIANT | |
721097 | Benign: not provided | 126,690,264(+) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
779867 | Benign: not provided | 126,693,955(+) | C/G | INTRON_VARIANT | |
rs121912760 | Affects: Blood group, Gerbich system. - | 126,656,286(+) | A/Gp.Asn8Ser | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs121912761 | Affects: Blood group, Gerbich system. - | 126,656,303(+) | C/Tp.Leu14Phe | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2429496 | CNV | deletion | 19546169 |
esv2672764 | CNV | deletion | 23128226 |
esv2720722 | CNV | deletion | 23290073 |
esv3414587 | CNV | insertion | 20981092 |
esv3592344 | CNV | loss | 21293372 |
nsv1142296 | CNV | deletion | 24896259 |
nsv583011 | CNV | loss | 21841781 |
nsv583012 | CNV | loss | 21841781 |
nsv583013 | CNV | gain | 21841781 |
nsv583014 | CNV | loss | 21841781 |
nsv583015 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
blood group, gerbich system |
|
|
malaria |
|
|
hereditary elliptocytosis |
|
|
chickenpox |
|
|
herpes zoster |
|