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. 2009 Feb;20(2):363–379. doi: 10.1681/ASN.2008040406

Table 1.

Disease-related proteins in human urinary exosomesa

Gene Protein Name Pep ID Related to Disease [OMIM]
ABCB1 ATP-binding cassette subfamily B, member 1 23 61 Colchicine resistance [MIM: 120080] Crohn disease [MIM: 266600]
ABCC9 ATP-binding cassette, subfamily C, member 9 isoform SUR2A-δ-14 1 2 Cardiomyopathy [MIM: 608569]
ABCB11 ATP-binding cassette, subfamily B (MDR/TAP), member 11 1 3 Cholestasis, progressive familial intrahepatic 2 [MIM: 601847]
Cholestasis, benign recurrent intrahepatic 2 [MIM: 605479]
ACAT1 Acetyl-CoA acetyltransferase 1 precursor 1 2 α-Methylacetoacetic aciduria [MIM: 203750]
ACE Angiotensin I–converting enzyme isoform 1 precursor 23 96 Hypertension [MIM: 106180]
ACE Angiotensin I–converting enzyme isoform 2 precurs 12 61 Renal tubular dysgenesis [267430]
ACE2 Angiotensin I–converting enzyme 2 precursor 8 17 Hypertension [MIM: 300335]
ACOT7 Acyl-CoA thioesterase 7 isoform hBACHd 1 1 Mesial temporal lobe epilepsy [MIM: 608096]
ACSL4 Acyl-CoA synthetase long-chain family member 4 isoform 2 1 2 Mental retardation, X-linked 63, MRX 63 [MIM: 300387]
ACY1 Aminoacylase 1 15 43 Aminoacylase 1 deficiency [MIM: 609924]
AHCY S-adenosylhomocysteine hydrolase 10 28 Hypermethioninemia [MIM: 180960]
AK1 Adenylate kinase 1 4 4 Hemolytic anemia due to AK1 deficiency [MIM: 103000]
ALAD δ-Aminolevulinic acid dehydratase isoform a 1 1 Acute hepatic porphyria [MIM: 125270]
ALB Albumin precursor 36 139 Dysalbuminemic hyperthyroxinemia Hyperthyroxinemia, dysalbuminemic analbuminemia bisalbuminemia [MIM: 103600]
ALDOA Aldolase A 7 14 Aldolase deficiency of red cells Myopathy and hemolytic anemia [MIM: 103850]
ALPL Tissue nonspecific alkaline phosphatase precursor 3 4 Hypophostasia [MIM: 241500]
AMN Amnionless protein precursor 1 1 Megaloblastic anemia 1 [MIM: 261100]
ANPEP Membrane alanine aminopeptidase precursor 69 412 Hypertension [MIM: 151530]
APOA1 Apolipoprotein A-I preproprotein 6 17 Primary hypoalphalipoproteinemia [MIM: 604091]
APOA2 Apolipoprotein A-II preproprotein 1 1 Apolipoprotein A-II deficiency, familial
Hypercholesterolemia, familial [MIM: 143890]
APRT Adenine phosphoribosyltransferase isoform a 2 2 2,8-Dihydroxyadenine urolithiasis [MIM: 102600]
APRT Adenine phosphoribosyltransferase isoform b 3 10 2,8-Dihydroxyadenine urolithiasis [MIM: 102600]
AQP1 Aquaporin 1 3 35 Aquaporin 1 deficiency, Colton-Null [MIM: 110450]
AQP2 Aquaporin 2 7 36 Autosomal recessive nephrogenic diabetes insipidus, type 1 [MIM: 222000]Autosomal dominant nephrogenic diabetes insipidus, type 1 [MIM: 125800]
ARL6 ADP-ribosylation factor–like 6 4 7 Bardet-Biedl syndrome 3 [MIM: 209900]
ARSE Arylsulfatase E precursor 1 2 Chondrodysplasia punctata 1, X-linked recessive [MIM: 302950]
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 preproprotein isoform a 7 16 Farber disease [MIM: 228000]
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 isoform b 9 34 Farber disease [MIM: 228000]
ASL Argininosuccinate lyase isoform 3 1 1 Argoninosuccinic aciduria [MIM: 207900]
ASS1 Argininosuccinate synthetase 1 20 59 Citrullinemia [MIM: 215700]
ATIC 5-Aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 1 1 Aica-ribosiduria due to ATIC deficiency [MIM: 608688]
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 1 2 Renal tubular acidosis, distal, autosomal recessive [MIM: 602722]
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58-kD, V1 subunit B1 8 17 Renal tubular acidosis, distal, with progressive deafness [MIM: 267300]
B2M β2-Microglobulin precursor 1 1 Hypercatabolic hypoproteinemia [MIM: 241600]
B4GALT1 UDP-Gal:βGlcNAc β 1,4- galactosyltransferase 1, membrane-bound form 1 1 Congenital disorder of glycosylation type IId [MIM: 607091]
CA2 Carbonic anhydrase II 9 25 Autosomal recessive syndrome of osteopetrosis with renal tubular acidosis [MIM: 259730]
CA4 Carbonic anhydrase IV precursor 2 2 Proximal renal tubular acidosis [MIM: 114760]
CC2D1A Coiled-coil and C2 domain containing 1A 6 6 Mental retardation autosomal recessive 3 [MIM: 608443]
CD2AP CD2-associated protein 14 21 Focal segmental glomerulosclerosis FSGS3 [MIM: 607832]
CETP Cholesteryl ester transfer protein, plasma precursor 7 14 Cholesterol ester transfer protein deficiency [MIM: 607322]
CFH Complement factor H isoform b precursor 1 1 Hemolytic uremic syndrome, atypical [MIM: 235400]
CFI Complement factor I 1 1 Complement factor I deficiency [MIM: 610984]
CHMP2B Chromatin modifying protein 2B 4 15 Frontotemporal dementia, chromosome 3-linked [MIM: 6000795]
CLTC Clathrin heavy chain 1 12 24 Renal cell carcinoma [MIM: 118955]
COL18A1 α 1 type XVIII collagen isoform 1 precursor 1 1 Knobloch syndrome [MIM: 267750]
COL6A1 Collagen, type VI, α 1 precursor 6 21 Bethlem myopathy [MIM: 158810] Ullrich congenital muscular dystrophy, autosomal dominant [MIM: 254090]
COL6A3 α 3 type VI collagen isoform 5 precursor 1 2 Ullrich congenital muscular dystrophy [MIM: 254090]
CP Ceruloplasmin precursor 6 15 Aceruloplasminemia [MIM: 604290]
CRYAB Crystallin, α B 7 12 α-B crystallinopathy [MIM: 608810]
CRYM Crystallin, μ isoform 1 1 3 Autosomal dominant nonsyndromic deafness [MIM: 123740]
CST3 Cystatin C precursor 1 3 Icelandic-type cerebroarterial amyloidosis [MIM: 105150]
CSTB Cystatin B 2 10 Myoclonic epilepsy of Unverricht and Lundborg [MIM: 254800]
CTSC Cathepsin C isoform b precursor 1 1 Papillo-LeFevre syndrome [MIM: 245000]
CTH Cystathionase isoform 2 1 1 Cystathioninuria [MIM: 219500]
CTSA Cathepsin A precursor 3 15 Galactosialidosis [MIM: 256540]
CTSC Cathepsin C isoform a preproprotein 1 2 Papillon-Lefevre syndrome [MIM: 245000]
CTSD Cathepsin D preproprotein 1 2 Neuronal ceroid lipofuscinosis [MIM: 610127]
CTNS Cystinosis, nephropathic isoform 1 1 3 Nephropathic cystinosis [MIM: 219800]
CUBN Cubilin 104 672 Megaloblastic anemia 1, Finnish type [MIM: 261100]
CUL4B Cullin 4B 1 1 Cabezas syndrome [MIM: 300354]
Mental retardation-hypotonic facies syndrome [MIM: 300639]
DDAH1 Dimethylarginine dimethylaminohydrolase 1 1 5 Hypertension [MIM: 604743]
DDC Dopa decarboxylase (aromatic l-amino acid decarboxylase) 11 31 Aromatic L-amino acid decarboxylase deficiency [MIM: 608643]
DNM2 Dynamin 2 isoform 3 1 1 Charcot-Marie-Tooth disease,
Dominant intermediate B [MIM: 606482]
DNM2 Dynamin 2 isoform 4 1 1 Charcot-Marie-Tooth neuropathy,
Dominant intermediate B [MIM: 606482]
DYSF Dysferlin 1 1 Miyoshi myopathy [MIM: 254130]
DPYS Dihydropyrimidinase 5 6 Dihydropyrimidinuria [MIM: 222748]
DSC2 Desmocollin 2 isoform Dsc2b preproprotein 1 3 Arrhythmogenic right ventricular dysplasia-11 [MIM: 610476]
DSP Desmoplakin isoform II 10 16 Keratosis palmoplantaris striata II dilated cardiomyopathy with woolly hair and keratoderma [MIM: 605676]
ECE1 Endothelin-converting enzyme 1 1 1 Hirschsprung disease [MIM: 142623]
EFEMP1 EGF-containing fibulin–like extracellular matrix protein 1 precursor 1 3 Doyne Honeycomb retinal dystrophy [MIM: 126600]
ELA2 Elastase 2, neutrophil preproprotein 1 1 Cyclic hematopoiesis [MIM: 162800]
ENPEP Glutamyl aminopeptidase (aminopeptidase A) 25 100 Hypertension [MIM: 138297]
FAH Fumarylacetoacetate hydrolase (fumarylacetoacetase) 2 2 Tyrosinemia type I [MIM: 276700]
FLNB Filamin B, β (actin-binding protein 278) 1 1 Spondylocarpotarsal synostosis syndrome [MIM: 272460]
FBP1 Fructose-1,6-bisphosphatase 1 7 16 Fructose-1,6-bisphosphatase deficiency [MIM: 229700]
FGA Fibrinogen, α polypeptide isoform α-E preproprotein 5 17 Renal amyloidosis [MIM: 105200] Dysfibrinogenemia [MIM: 134820]
FGG Fibrinogen, γ chain isoform γ-A precursor 1 1 Dysfibrinogenemia[MIM: 134850]
FTCD Formiminotransferase cyclodeaminase 4 7 Glutamate formiminotransferase deficiency [MIM: 229100]
FTH1 Ferritin, heavy polypeptide 1 1 7 Iron overload, autosomal dominant [MIM: 134770]
FTL Ferritin, light polypeptide 5 14 Hyperferritinemia-cataract syndrome [MIM: 600886]
FUCA1 Fucosidase, α-L-1, tissue 1 1 Fucosidosis [MIM: 230000]
FXYD2 FXYD domain–containing ion transport regulator 2 isoform 1 1 7 Hypomagnesemia 2, renal [MIM: 154020]
G6PD Glucose-6-phosphate dehydrogenase isoform a 1 1 Nonspherocytic hemolytic anemia due to G6PD deficiency [MIM: 305900]
GAA Acid α-glucosidase preproprotein 4 8 Infantile-onset glycogen storage disease Type II [MIM: 232300]
GALK1 Galactokinase 1 1 1 Galactokinase deficiency [MIM: 230200]
GBE1 Glucan (1,4-α-), branching enzyme 1 1 2 Type IV glycogen storage disease [MIM: 232500]
GCS1 Mannosyl-oligosaccharide glucosidase 1 1 Congenital disorder of glycosylation [MIM: 606056]
GK Glycerol kinase isoform a 1 1 Glycerol kinase deficiency [MIM: 307030]
GLB1 Galactosidase, β 1 isoform a 16 70 Gangliosidosis GM1 [MIM: 230500]
GLUL Glutamine synthetase 2 2 Congenital glutamine deficiency [MIM: 610015]
GM2A GM2 ganglioside activator precursor 2 3 Gangliosidosis GM2 AB variant Tay-Sachs disease [MIM: 272750]
GPI Glucose phosphate isomerase 9 19 Chronic hemolytic anemia duet to GPI deficiency [MIM: 172400]
GPR98 G protein–coupled receptor 98 precursor 1 1 Familial febrile seizures [MIM: 604352] Usher syndrome type IIC [MIM: 605472]
GSN Gelsolin isoform b 10 21 Finnish type familial amyloidosis [MIM: 105120]
GSS Glutathione synthetase 1 3 Glutathione synthetase deficiency [MIM: 266130]
HNMT Histamine N-methyltransferase isoform 1 1 1 Susceptibility to asthma [MIM: 600807]
HPD 4-Hydroxyphenylpyruvate dioxygenase 1 1 Tyrosinemia type III [MIM: 276710]
HPGD Hydroxyprostaglandin dehydrogenase 15-(NAD) 6 21 Hypertension [MIM: 601688]
HSPG2 Heparan sulfate proteoglycan 2 18 41 Schwartz-Jampel syndrome type 1 [MIM: 255800]
HSPB1 Heat-shock 27-kD protein 1 8 30 Charcot-Marie-Tooth disease, type 2F [MIM: 606595] Distal hereditary motor neuropathy IIB [MIM: 608634]
ICAM1 Intercellular adhesion molecule 1 precursor 1 1 Graves disease [MIM: 275000]
IL1RN Interleukin 1 receptor antagonist isoform 1 precursor 2 2 Gastric cancer risk [MIM: 137215]
IRF6 Interferon regulatory factor 6 1 1 Van der Woude syndrome [MIM: 119300] Popliteal pterygium syndrome [MIM: 119500]
ITM2B Integral membrane protein 2B 5 21 Familial dementia [MIM: 176500]
JUP Junction plakoglobin 9 15 Naxos disease [MIM: 601214]
KALRN Kalirin, RhoGEF kinase isoform 3 1 1 Coronary heart disease [MIM: 608901]
KHK Ketohexokinase isoform a 2 4 Essential fructosuria [MIM: 229800]
KL Klotho 1 1 Hyperphosphatemic tumoral calcinosis [MIM: 211900]
KLK1 Kallikrein 1 preproprotein 1 1 Decreased urinary activity of kallikrein [MIM: 147910]
LGALS3 Galectin 3 1 1 Lymphocyte function–associated antigen 1 [MIM: 116920]
LAMP2 Lysosomal-associated membrane protein 2 precursor 4 26 Danon disease [MIM: 300257]
LRRK2 Leucine-rich repeat kinase 2 4 5 Parkinson disease [MIM: 607060]
LYZ Lysozyme precursor 1 3 Familial visceral amyloidosis [MIM: 105200]
MIF Macrophage migration inhibitory factor (glycosylation-inhibiting factor) 1 6 Rheumatoid arthritis [MIM: 604302]
MME Membrane metallo-endopeptidase neprilysin 48 311 HypertensionImportant cell surface marker in the diagnostic of human acute lymphocytic leukemia [MIM: 120520]
MPO Myeloperoxidase 7 32 Myeloperoxidase deficiency [MIM: 254600]
MTHFD1 Methylenetetrahydrofolate dehydrogenase 1 4 5 Spina bifida [MIM: 601634]
MYH14 Myosin, heavy chain 14 isoform 1 1 1 Autosomal dominant nonsyndromic sensorineural deafness [MIM: 600652]
MYH3 Myosin, heavy chain 3, skeletal muscle, embryonic 1 1 Freeman-Sheldon syndrome [MIM: 193700]
MYH9 Myosin, heavy polypeptide 9, nonmuscle 19 51 Fechtner syndrome [MIM: 153640]Epstein syndrome [MIM: 153650]
MYO15A Myosin XV 1 3 Recessive congenital deafness [MIM: 600316]
MYO6 Myosin VI 7 21 Autosomal recessive congenital sensorineural deafness [MIM: 607821] Autosomal dominant nonsyndromic sensorineural deafness [MIM: 606346]
NAGLU α-N-acetylglucosaminidase precursor 21 63 Mucopolysaccharidosis type IIIB [MIM: 252920]
NDRG1 N-myc downstream regulated gene 1 2 5 Charcot-Marie-Tooth disease type 4D [MIM: 601455]
NEB Nebulin 2 4 Nemaline myopathy [MIM: 256030]
NPHS2 Podocin 6 9 Autosomal recessive steroid-resistant nephrotic syndrome [MIM: 600995]
PAFAH1B1 Platelet-activating factor acetylhydrolase, isoform Ib, α subunit (45 kD) 1 1 Miller-Dieker lissencephaly syndrome [MIM: 607432]
PARK7 DJ-1 protein 1 1 Parkinson disease 7, autosomal recessive [MIM: 606324]
PCBD1 Pterin-4 α-carbinolamine dehydratase precursor 1 1 Hyperphenylalaninemia [MIM: 264070]
PDCD10 Programmed cell death 10 2 3 Cerebral cavernous malformations [MIM: 603285]
PHGDH Phosphoglycerate dehydrogenase 2 2 Phosphoglycerate dehydrogenase deficiency [MIM: 601815]
PKD1 Polycystin 1 1 1 Polycystic kidney disease, adult, type I [MIM: 601313]
PKD2 Polycystin 2 1 2 Polycystic kidney disease, adult, type II [MIM: 173910]
PKHD1 Polyductin isoform 2 6 9 Autosomal recessive polycystic kidney disease [MIM: 263200]
PKLR Pyruvate kinase, liver, and RBC isoform 1 1 1 Pyruvate kinase deficiency [MIM: 266200]
PLOD1 Lysyl hydroxylase precursor 1 1 Ehlers-Danlos syndrome, type VIA [MIM: 225400]
PRKCH Protein kinase C, η 1 2 Cerebral infarction [MIM: 601367]
PROM1 Prominin 1 23 174 Autosomal recessive retinal degeneration [MIM: 604365]
PRNP Prion protein preproprotein 1 1 Creutzfeldt-Jakob disease [MIM: 123400]
PSAP Prosaposin isoform a preproprotein 3 6 Metachromatic leukodystrophy due to SAP1 deficiency [MIM: 249900]
Gaucher disease, atypical due to SAP2 deficiency [MIM: 610539]
PSAP Prosaposin isoform c preproprotein 1 4 Metachromatic leukodystrophy [MIM: 249900]
PSAT1 Phosphoserine aminotransferase isoform 1 2 4 Phosphoserine aminotransferase deficiency [MIM: 610992]
PTPRJ Protein tyrosine phosphatase, receptor type, J precursor 1 1 Somatic colon cancer [MIM: 114500]
RAB3GAP1 RAB3 GTPase-activating protein 1 1 Warburg micro syndrome [MIM: 600118]
RBP4 Retinol-binding protein 4, plasma precursor 2 3 Retinol-binding protein deficiency [MIM: 180250]
RDX Radixin 16 23 Autosomal recessive deafness 24 [MIM: 611022]
ROBO2 Roundabout, axon guidance receptor, homolog 2 1 1 Vesicoureteral reflux 2 [MIM: 610878]
RP2 XRP2 protein 3 5 X-linked retinitis pigmentosa 2 [MIM: 312600]
RYR1 Skeletal muscle ryanodine receptor isoform 1 1 1 Malignant hyperthermia [MIM: 145600] Central core disease [MIM: 117000] Minicore myopathy with external ophthalmoplegia [MIM: 255320]
SERPING1 Complement component 1 inhibitor precursor 7 14 Hereditary angioedema type I [MIM: 106100]
SLC3A1 Solute carrier family 3, member 1 14 25 Cystinuria [MIM: 220100]
SLC4A1 Solute carrier family 4, anion exchanger, member 1 [kAE1] 2 2 Defective kidney acid secretion leading to distal renal tubular acidosis [MIM: 179800]
SLC4A4 Solute carrier family 4, sodium bicarbonate co-transporter, member 4 [NBC1] 2 3 Renal tubular acidosis, proximal, with ocular abnormalities [MIM: 604278]
SLC5A1 Solute carrier family 5 (sodium/glucose co-transporter), member 1 [SGLT1] 2 3 Glucose/galactose malabsorption [MIM: 606824]
SLC5A2 Solute carrier family 5 (sodium/glucose co-transporter), member 2 [SGLT2] 4 9 Renal glucosuria [MIM: 233100]
SLC6A19 Solute carrier family 6, member 19 4 8 Hartnup disorder [MIM: 234500]
SLC12A1 Sodium potassium chloride co-transporter 2 [NKCC2] 25 94 Bartter syndrome, antenatal, type 1 [MIM: 601678]
SLC12A3 Solute carrier family 12 (sodium/chloride transporters), member 3 [NCC] 28 102 Gitelman syndrome [MIM: 263800]
SLC22A12 Urate anion exchanger 1 isoform a [URAT1] 1 2 Renal hypouricemia [MIM: 220150]
SLC25A3 Solute carrier family 25 member 3 isoform b precursor 1 5 Mitochondrial phosphate carrier deficiency [MIM: 610773]
SLC26A4 Pendrin 2 4 Pendred syndrome [MIM: 274600]Deafness, autosomal recessive 4 [MIM: 600791]
SLC44A4 NG22 protein isoform 1 6 59 Sialidosis 1 [MIM: 606107]
SPR Sepiapterin reductase (7,8-dihydrobiopterin:NADP + oxidoreductase) 1 2 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency [MIM: 251120]
SQSTM1 Sequestosome 1 1 2 Paget disease of bone [MIM: 602080]
SUCLA2 Succinate-CoA ligase, ADP-forming, β subunit 1 1 Mitochondrial DNA depletion syndrome [MIM: 609560]
TECTA Tectorin α precursor 1 1 Autosomal dominant nonsyndromic sensorineural hearing loss [MIM: 601842]
TF Transferrin 12 20 Alzheimer disease [MIM: 104300]
TPP1 Tripeptidyl-peptidase I preproprotein 8 42 Ceroid lipofuscinosis neuronal 2 [MIM: 204500]
TSG101 Tumor susceptibility gene 101 17 66 Breast cancer [MIM: 176960]
TTN Titin isoform novex 1 4 5 Cardiomyopathy [MIM: 188840]
UMOD Uromodulin precursor 35 1278 Medullary cystic kidney disease-2 (MCKD2) [MIM: 603860]Familial juvenile hyperuricemic nephropathy (FJHN) [MIM: 16200]
VCP Valosin-containing protein 2 2 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia [MIM: 167320]
VAMP7 Vesicle-associated membrane protein 7 1 1 β-Ureidopropionase deficiency [MIM: 606673]
VCL Vinculin isoform meta-VCL 3 5 Cardiomyopathy, dilated [MIM: 611407]
VWF Von Willebrand factor preproprotein 1 4 Von Willebrand disease [MIM: 193400]
ZMPSTE24 Zinc metalloproteinase STE24 1 1 Mandibuloacral dysplasia [MIM: 608612]
a

Information for each protein include “Gene” name, “Protein Name”, “Pep” refers to the number of unique peptides identified in LC-MS/MS, “ID” refers to the number of spectra and “Related to Disease [OMIM]” refers to the disease with which the protein is related according to OMIM. The 34 proteins associated with kidney diseases are presented in italics.