Defective SLCO2A1 does not transport PGT substrates from extracellular region to cytosol

Stable Identifier
R-HSA-5661188
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region, plasma membrane
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Defective SLCO2A1 does not transport PGT substrates from extracellular region to cytosol
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The human gene SLCO2A1 encodes prostaglandin transporter PGT. It is ubiquitously expressed and can transport the protaglandins PGD2, PGE1, PGE2 and PGF2A. This transport may be important for release of newly-formed prostaglandins (PGs) and/or their clearance of prostaglandins from the circulation. Defects in SLCO2A1 can cause hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2; MIM:614441), a rare genodermatosis characterised by pachydermia, digital clubbing, periostosis and affecting more males than females. SLCO2A1 mutations that cause PHOAR2 include G255E, N545Tfs*15, G222R, F276Lfs*18 and C420F (Zhang et al. 2012, Seifert et al. 2012, Diggle et al. 2012).

Literature References
PubMed ID Title Journal Year
22553128 Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Diggle, CP, Parry, DA, Logan, CV, Laissue, P, Rivera, C, Restrepo, CM, Fonseca, DJ, Morgan, JE, Allanore, Y, Fontenay, M, Wipff, J, Varret, M, Gibault, L, Dalantaeva, N, Korbonits, M, Zhou, B, Yuan, G, Harifi, G, Cefle, K, Palanduz, S, Akoglu, H, Zwijnenburg, PJ, Lichtenbelt, KD, Aubry-Rozier, B, Superti-Furga, A, Dallapiccola, B, Accadia, M, Brancati, F, Sheridan, EG, Taylor, GR, Carr, IM, Johnson, CA, Markham, AF, Bonthron, DT

Hum. Mutat. 2012
22197487 Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy

Zhang, Z, Xia, W, He, J, Zhang, Z, Ke, Y, Yue, H, Wang, C, Zhang, H, Gu, J, Hu, W, Fu, W, Hu, Y, Li, M, Liu, Y

Am. J. Hum. Genet. 2012
22331663 Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing

Seifert, W, Kühnisch, J, Tüysüz, B, Specker, C, Brouwers, A, Horn, D

Hum. Mutat. 2012
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Catalyst Activity

prostaglandin transmembrane transporter activity of SLCO2A1 mutants [plasma membrane]

Physical Entity
SLCO2A1 mutants [plasma membrane] (Homo sapiens)
Activity
prostaglandin transmembrane transporter activity (GO:0015132)
Normal reaction
SLCO2A1 transports PGT substrates from extracellular region to cytosol (Homo sapiens)
Functional status

Loss of function of SLCO2A1 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
primary hypertrophic osteoarthropathy DOID:14283 Pachydermoperiostosis of nail [Ambiguous], Pachydermoperiostosis of nail (disorder), Pachydermoperiostosis of nail, Pachydermoperiostosis syndrome (disorder)
Authored
Jassal, B  (2015-01-09)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2015-01-09)
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