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MGP002906

UniProt Annotations

Entry Information

Gene Name	solute carrier organic anion transporter family, member 2A1
Protein Entry	SO2A1_HUMAN
UniProt ID	Q92959
Species	Human

Comments

Comment type	Description
Disease	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]: A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. {ECO:0000269\|PubMed:22197487, ECO:0000269\|PubMed:22331663, ECO:0000269\|PubMed:22553128, ECO:0000269\|PubMed:22696055}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	May mediate the release of newly synthesized prostaglandins from cells, the transepithelial transport of prostaglandins, and the clearance of prostaglandins from the circulation. Transports PGD2, as well as PGE1, PGE2 and PGF2A.
Interaction	P62993:GRB2; NbExp=1; IntAct=EBI-1760532, EBI-401755;
Similarity	Belongs to the organo anion transporter (TC 2.A.60) family. {ECO:0000305}.
Similarity	Contains 1 Kazal-like domain. {ECO:0000255\|PROSITE- ProRule:PRU00798}.
Subcellular Location	Cell membrane; Multi-pass membrane protein.
Tissue Specificity	Ubiquitous. Significant expression observed in ling, kidney, spleen, and heart. {ECO:0000269\|PubMed:22331663}.
Web Resource	Name=Solute carrier organic anion transporter family, member 2A1 (SLCO2A1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/SLCO2A1";