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MAGE-D2
Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule. Widely expressed. In the developing and adult kidney, expressed in the thick ascending limb of the loop of Henle and the distal convoluted tubules outside the loop. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Unknown function |
| Chromosomal Location of human Ortholog: Xp11.21 |
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Cellular Component:
cytosol; extracellular region; nucleolus; nucleoplasm; nucleus; platelet alpha granule lumen
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Molecular Function:
protein binding
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Biological Process:
female pregnancy; negative regulation of transcription by RNA polymerase II; renal sodium ion absorption
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Disease: Bartter Syndrome, Type 5, Antenatal, Transient
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Reference #:
Q9UNF1
(UniProtKB)
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Alt. Names/Synonyms: 11B6; BARTS5; BCG-1; BCG1; breast cancer associated gene 1; Breast cancer-associated gene 1 protein; HCA10; hepatocellular carcinoma associated protein; hepatocellular carcinoma-associated protein HCA10; Hepatocellular carcinoma-associated protein JCL-1; JCL-1; MAGD2; MAGE family member D2; MAGE-D2; MAGE-D2 antigen; MAGED; MAGED2; melanoma antigen family D, 2; melanoma antigen family D2; Melanoma-associated antigen D2; MGC8386
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Gene Symbols: MAGED2
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Molecular weight:
64,954 Da
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Basal Isoelectric point:
9.35
Predict pI for various phosphorylation states
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