GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **376 - 400** of **2090** in total

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Pathway Name ▲	Protein Name	UniProt ID	Gene Symbol
Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)	Vasopressin V2 receptor Vasopressin-neurophysin 2-copeptin	P01185 P30518	ADHR ARVP AVP AVPR2 DIR DIR3 V2R VP
Defective B3GALT6 causes EDSP2 and SEMDJL1	Agrin Basement membrane-specific heparan sulfate proteoglycan core protein Beta-1,3-galactosyltransferase 6 Biglycan Brevican core protein Chondroitin sulfate proteoglycan 4 Chondroitin sulfate proteoglycan 5 Decorin Glypican-1 Glypican-2 Glypican-3 Glypican-4 Glypican-5 Glypican-6 Neurocan core protein Syndecan-1 Syndecan-2 Syndecan-3 Syndecan-4 Versican core protein	O00468 O14594 O75056 O75487 O95196 P07585 P13611 P18827 P21810 P31431 P34741 P35052 P51654 P78333 P98160 Q6UVK1 Q8N158 Q96GW7 Q96L58 Q9Y625	AGRIN AGRN B3GALT6 BCAN BEHAB BGN CALEB CSPG2 CSPG3 CSPG4 CSPG5 CSPG7 DCN GPC1 GPC2 GPC3 GPC4 GPC5 GPC6 HSPG1 HSPG2 KIAA0468 MCSP NCAN NEUR NGC OCI5 SDC SDC1 SDC2 SDC3 SDC4 SLRR1A SLRR1B VCAN
Defective B3GALTL causes PpS	A disintegrin and metalloproteinase with thrombospondin motifs 10 A disintegrin and metalloproteinase with thrombospondin motifs 12 A disintegrin and metalloproteinase with thrombospondin motifs 13 A disintegrin and metalloproteinase with thrombospondin motifs 14 A disintegrin and metalloproteinase with thrombospondin motifs 15 A disintegrin and metalloproteinase with thrombospondin motifs 16 A disintegrin and metalloproteinase with thrombospondin motifs 17 A disintegrin and metalloproteinase with thrombospondin motifs 18 A disintegrin and metalloproteinase with thrombospondin motifs 19 A disintegrin and metalloproteinase with thrombospondin motifs 1 A disintegrin and metalloproteinase with thrombospondin motifs 20 A disintegrin and metalloproteinase with thrombospondin motifs 2 A disintegrin and metalloproteinase with thrombospondin motifs 3 A disintegrin and metalloproteinase with thrombospondin motifs 4 A disintegrin and metalloproteinase with thrombospondin motifs 5 A disintegrin and metalloproteinase with thrombospondin motifs 6 A disintegrin and metalloproteinase with thrombospondin motifs 7 A disintegrin and metalloproteinase with thrombospondin motifs 8 A disintegrin and metalloproteinase with thrombospondin motifs 9 ADAMTS-like protein 1 ADAMTS-like protein 2 ADAMTS-like protein 3 ADAMTS-like protein 4 ADAMTS-like protein 5 Beta-1,3-glucosyltransferase Properdin SCO-spondin Semaphorin-5A Semaphorin-5B Somatomedin-B and thrombospondin type-1 domain-containing protein Spondin-1 Spondin-2 Thrombospondin type-1 domain-containing protein 1 Thrombospondin type-1 domain-containing protein 4 Thrombospondin type-1 domain-containing protein 7A Thrombospondin type-1 domain-containing protein 7B Thrombospondin-1 Thrombospondin-2	A2VEC9 O15072 O75173 O95450 P07996 P27918 P35442 P58397 P59510 P82987 Q13591 Q6UY14 Q6Y288 Q6ZMM2 Q6ZMP0 Q76LX8 Q86TH1 Q8IVN8 Q8N6G6 Q8TE56 Q8TE57 Q8TE58 Q8TE59 Q8TE60 Q8WXS8 Q9BUD6 Q9C0I4 Q9H324 Q9HCB6 Q9NS62 Q9P283 Q9P2N4 Q9UHI8 Q9UKP4 Q9UKP5 Q9UNA0 Q9UP79 Q9UPZ6	ADAMTS1 ADAMTS10 ADAMTS11 ADAMTS12 ADAMTS13 ADAMTS14 ADAMTS15 ADAMTS16 ADAMTS17 ADAMTS18 ADAMTS19 ADAMTS2 ADAMTS20 ADAMTS21 ADAMTS3 ADAMTS4 ADAMTS5 ADAMTS6 ADAMTS7 ADAMTS8 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4 ADAMTSL5 ADAMTSR1 ADMP2 B3GALTL B3GLCT B3GTL C8orf84 C9orf8 C9orf94 CFP DIL1 KIAA0366 KIAA0605 KIAA0688 KIAA0762 KIAA0960 KIAA1233 KIAA1312 KIAA1346 KIAA1445 KIAA1679 KIAA2029 KIAA2036 METH1 METH2 PCINP PCPNI PFC RPESP SBSPON SEMA5A SEMA5B SEMAF SEMAG SPON1 SPON2 SSPO SSPOP THBS1 THBS2 THSD1 THSD4 THSD6 THSD7A THSD7B TMTSP TSP TSP1 TSP2 TSRC1 VSGP
Defective B3GAT3 causes JDSSDHD	Agrin Basement membrane-specific heparan sulfate proteoglycan core protein Biglycan Brevican core protein Chondroitin sulfate proteoglycan 4 Chondroitin sulfate proteoglycan 5 Decorin Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 Glypican-1 Glypican-2 Glypican-3 Glypican-4 Glypican-5 Glypican-6 Neurocan core protein Syndecan-1 Syndecan-2 Syndecan-3 Syndecan-4 Versican core protein	O00468 O14594 O75056 O75487 O94766 O95196 P07585 P13611 P18827 P21810 P31431 P34741 P35052 P51654 P78333 P98160 Q6UVK1 Q8N158 Q96GW7 Q9Y625	AGRIN AGRN B3GAT3 BCAN BEHAB BGN CALEB CSPG2 CSPG3 CSPG4 CSPG5 CSPG7 DCN GPC1 GPC2 GPC3 GPC4 GPC5 GPC6 HSPG1 HSPG2 KIAA0468 MCSP NCAN NEUR NGC OCI5 SDC SDC1 SDC2 SDC3 SDC4 SLRR1A SLRR1B VCAN
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)	Aggrecan core protein Beta-1,4-galactosyltransferase 1 Fibromodulin Keratocan Lumican Mimecan Osteomodulin Prolargin	O60938 P15291 P16112 P20774 P51884 P51888 Q06828 Q99983	ACAN AGC1 B4GALT1 CSPG1 FM FMOD GGTB2 KERA LDC LUM MSK16 OGN OIF OMD PRELP SLRR2A SLRR2B SLRR2C SLRR2D SLRR2E SLRR3A
Defective B4GALT1 causes CDG-2d	Beta-1,4-galactosyltransferase 1	P15291	B4GALT1 GGTB2
Defective B4GALT7 causes EDS, progeroid type	Agrin Basement membrane-specific heparan sulfate proteoglycan core protein Beta-1,4-galactosyltransferase 7 Biglycan Brevican core protein Chondroitin sulfate proteoglycan 4 Chondroitin sulfate proteoglycan 5 Decorin Glypican-1 Glypican-2 Glypican-3 Glypican-4 Glypican-5 Glypican-6 Neurocan core protein Syndecan-1 Syndecan-2 Syndecan-3 Syndecan-4 Versican core protein	O00468 O14594 O75056 O75487 O95196 P07585 P13611 P18827 P21810 P31431 P34741 P35052 P51654 P78333 P98160 Q6UVK1 Q8N158 Q96GW7 Q9UBV7 Q9Y625	AGRIN AGRN B4GALT7 BCAN BEHAB BGN CALEB CSPG2 CSPG3 CSPG4 CSPG5 CSPG7 DCN GPC1 GPC2 GPC3 GPC4 GPC5 GPC6 HSPG1 HSPG2 KIAA0468 MCSP NCAN NEUR NGC OCI5 SDC SDC1 SDC2 SDC3 SDC4 SLRR1A SLRR1B VCAN XGALT1
Defective BTD causes biotidinase deficiency	Biotinidase	P43251	BTD
Defective Base Excision Repair Associated with NEIL3	Endonuclease 8-like 3	Q8TAT5	NEIL3
Defective C1GALT1C1 causes TNPS	C1GALT1-specific chaperone 1 Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 Mucin-12 Mucin-13 Mucin-15 Mucin-16 Mucin-17 Mucin-19 Mucin-1 Mucin-20 Mucin-21 Mucin-2 Mucin-3A Mucin-3B Mucin-4 Mucin-5AC Mucin-5B Mucin-6 Mucin-7 Mucin-like protein 1	P15941 P98088 Q02505 Q02817 Q5SSG8 Q685J3 Q6W4X9 Q7Z5P9 Q8N307 Q8N387 Q8TAX7 Q8WXI7 Q96DR8 Q96EU7 Q99102 Q9H195 Q9H3R2 Q9HC84 Q9NS00 Q9UKN1	C1GALT1 C1GALT1C1 C6orf205 CA125 COSMC DRCC1 KIAA1359 MG2 MUC1 MUC11 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC2 MUC20 MUC21 MUC3 MUC3A MUC3B MUC4 MUC5 MUC5AC MUC5B MUC6 MUC7 MUCL1 PUM RECC SBEM SMUC
Defective CBLIF causes IFD	Cobalamin binding intrinsic factor	P27352	CBLIF GIF IFMH
Defective CD320 causes MMATC	CD320 antigen Transcobalamin-2	P20062 Q9NPF0	8D6A CD320 TC2 TCN2
Defective CFTR causes cystic fibrosis	26S proteasome complex subunit SEM1 26S proteasome non-ATPase regulatory subunit 10 26S proteasome non-ATPase regulatory subunit 11 26S proteasome non-ATPase regulatory subunit 12 26S proteasome non-ATPase regulatory subunit 13 26S proteasome non-ATPase regulatory subunit 14 26S proteasome non-ATPase regulatory subunit 1 26S proteasome non-ATPase regulatory subunit 2 26S proteasome non-ATPase regulatory subunit 3 26S proteasome non-ATPase regulatory subunit 4 26S proteasome non-ATPase regulatory subunit 5 26S proteasome non-ATPase regulatory subunit 6 26S proteasome non-ATPase regulatory subunit 7 26S proteasome non-ATPase regulatory subunit 8 26S proteasome non-ATPase regulatory subunit 9 26S proteasome regulatory subunit 10B 26S proteasome regulatory subunit 4 26S proteasome regulatory subunit 6A 26S proteasome regulatory subunit 6B 26S proteasome regulatory subunit 7 26S proteasome regulatory subunit 8 Cystic fibrosis transmembrane conductance regulator Derlin-1 Derlin-2 Derlin-3 E3 ubiquitin-protein ligase RNF185 E3 ubiquitin-protein ligase RNF5 Endoplasmic reticulum lectin 1 Erlin-1 Erlin-2 Polyubiquitin-B Polyubiquitin-C Proteasome activator complex subunit 1 Proteasome activator complex subunit 2 Proteasome activator complex subunit 3 Proteasome activator complex subunit 4 Proteasome inhibitor PI31 subunit Proteasome subunit alpha type-1 Proteasome subunit alpha type-2 Proteasome subunit alpha type-3 Proteasome subunit alpha type-4 Proteasome subunit alpha type-5 Proteasome subunit alpha type-6 Proteasome subunit alpha type-7 Proteasome subunit alpha-type 8 Proteasome subunit beta type-10 Proteasome subunit beta type-11 Proteasome subunit beta type-1 Proteasome subunit beta type-2 Proteasome subunit beta type-3 Proteasome subunit beta type-4 Proteasome subunit beta type-5 Proteasome subunit beta type-6 Proteasome subunit beta type-7 Proteasome subunit beta type-8 Proteasome subunit beta type-9 Protein OS-9 Protein sel-1 homolog 1 Transitional endoplasmic reticulum ATPase Ubiquitin-ribosomal protein eL40 fusion protein Ubiquitin-ribosomal protein eS31 fusion protein	A5LHX3 O00231 O00232 O00233 O00487 O14818 O43242 O75477 O75832 O94905 P0CG47 P0CG48 P13569 P17980 P20618 P25786 P25787 P25788 P25789 P28062 P28065 P28066 P28070 P28072 P28074 P35998 P40306 P43686 P48556 P49720 P49721 P51665 P55036 P55072 P60896 P60900 P61289 P62191 P62195 P62333 P62979 P62987 Q06323 Q13200 Q13438 Q14997 Q15008 Q16401 Q8TAA3 Q92530 Q96DZ1 Q96GF1 Q96Q80 Q99436 Q99460 Q99942 Q9BUN8 Q9GZP9 Q9UBV2 Q9UL46 Q9UNM6	ABCC7 C10orf69 C22orf14 C2orf30 C7orf76 C8orf2 CFTR DER1 DER2 DER3 DERL1 DERL2 DERL3 DSS1 ERLEC1 ERLIN1 ERLIN2 FLANA G16 HC2 HC3 HC8 HC9 HEL-220 HEL-S-70 HSPC IFI5111 KE04 KEO4 KIAA0072 KIAA0077 KIAA0107 LLN2 LMP10 LMP2 LMP7 LMPX LMPY MB1 MCB1 MECL1 MIP224 MOV34L MSS1 NG2 NU OS9 PFAAP4 POH1 PROS26 PROS27 PROS30 PSC2 PSC3 PSC5 PSC8 PSC9 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMA7L PSMA8 PSMB1 PSMB10 PSMB11 PSMB2 PSMB3 PSMB4 PSMB5 PSMB5i PSMB6 PSMB6i PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD10 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 PSMD8 PSMD9 PSME1 PSME2 PSME3 PSME4 PSMF1 RING10 RING12 RMA1 RNF185 RNF5 RPS27A SEL1L SEM1 SHFDG1 SHFM1 SPFH1 SPFH2 SUG1 SUG2 TBP1 TBP7 TRAP2 TSA305 UBA52 UBA80 UBB UBC UBCEP1 UBCEP2 VCP X XTP3TPB Y Y2 Z
Defective CHST14 causes EDS, musculocontractural type	Biglycan Brevican core protein Carbohydrate sulfotransferase 14 Chondroitin sulfate proteoglycan 4 Chondroitin sulfate proteoglycan 5 Decorin Neurocan core protein Versican core protein	O14594 O95196 P07585 P13611 P21810 Q6UVK1 Q8NCH0 Q96GW7	BCAN BEHAB BGN CALEB CHST14 CSPG2 CSPG3 CSPG4 CSPG5 CSPG7 D4ST1 DCN MCSP NCAN NEUR NGC SLRR1A SLRR1B VCAN
Defective CHST3 causes SEDCJD	Biglycan Brevican core protein Carbohydrate sulfotransferase 3 Chondroitin sulfate proteoglycan 4 Chondroitin sulfate proteoglycan 5 Decorin Neurocan core protein Versican core protein	O14594 O95196 P07585 P13611 P21810 Q6UVK1 Q7LGC8 Q96GW7	BCAN BEHAB BGN CALEB CHST3 CSPG2 CSPG3 CSPG4 CSPG5 CSPG7 DCN MCSP NCAN NEUR NGC SLRR1A SLRR1B VCAN
Defective CHST6 causes MCDC1	Aggrecan core protein Carbohydrate sulfotransferase 6 Fibromodulin Keratocan Lumican Mimecan Osteomodulin Prolargin	O60938 P16112 P20774 P51884 P51888 Q06828 Q99983 Q9GZX3	ACAN AGC1 CHST6 CSPG1 FM FMOD KERA LDC LUM MSK16 OGN OIF OMD PRELP SLRR2A SLRR2B SLRR2C SLRR2D SLRR2E SLRR3A
Defective CHSY1 causes TPBS	Biglycan Brevican core protein Chondroitin sulfate proteoglycan 4 Chondroitin sulfate proteoglycan 5 Chondroitin sulfate synthase 1 Decorin Neurocan core protein Versican core protein	O14594 O95196 P07585 P13611 P21810 Q6UVK1 Q86X52 Q96GW7	BCAN BEHAB BGN CALEB CHSY CHSY1 CSPG2 CSPG3 CSPG4 CSPG5 CSPG7 CSS1 DCN KIAA0990 MCSP NCAN NEUR NGC SLRR1A SLRR1B VCAN
Defective CP causes aceruloplasminemia (ACERULOP)	Ceruloplasmin Solute carrier family 40 member 1	P00450 Q9NP59	CP FPN FPN1 IREG1 SLC11A3 SLC40A1
Defective CSF2RA causes SMDP4	Cytokine receptor common subunit beta Granulocyte-macrophage colony-stimulating factor receptor subunit alpha Pulmonary surfactant-associated protein A1 Pulmonary surfactant-associated protein A2 Pulmonary surfactant-associated protein B Pulmonary surfactant-associated protein D Surfactant protein C Surfactant-associated protein 3	P07988 P0C7M3 P11686 P15509 P32927 P35247 Q8IWL1 Q8IWL2	COLEC4 COLEC5 COLEC7 CSF2R CSF2RA CSF2RB CSF2RY IL3RB IL5RB PSAP PSPD SFTA3 SFTP1 SFTP2 SFTP3 SFTP4 SFTPA SFTPA1 SFTPA1B SFTPA2 SFTPA2B SFTPB SFTPC SFTPD SFTPH
Defective CSF2RB causes SMDP5	Cytokine receptor common subunit beta Granulocyte-macrophage colony-stimulating factor receptor subunit alpha Pulmonary surfactant-associated protein A1 Pulmonary surfactant-associated protein A2 Pulmonary surfactant-associated protein B Pulmonary surfactant-associated protein D Surfactant protein C Surfactant-associated protein 3	P07988 P0C7M3 P11686 P15509 P32927 P35247 Q8IWL1 Q8IWL2	COLEC4 COLEC5 COLEC7 CSF2R CSF2RA CSF2RB CSF2RY IL3RB IL5RB PSAP PSPD SFTA3 SFTP1 SFTP2 SFTP3 SFTP4 SFTPA SFTPA1 SFTPA1B SFTPA2 SFTPA2B SFTPB SFTPC SFTPD SFTPH
Defective CUBN causes MGA1	Cobalamin binding intrinsic factor Cubilin Protein amnionless	O60494 P27352 Q9BXJ7	AMN CBLIF CUBN GIF IFCR IFMH
Defective CYP11A1 causes AICSR	Adrenodoxin, mitochondrial Cholesterol side-chain cleavage enzyme, mitochondrial Ferredoxin-2, mitochondrial NADPH	P05108 P10109 P22570 Q6P4F2	ADX ADXR CYP11A CYP11A1 FDX1 FDX1L FDX2 FDXR
Defective CYP17A1 causes AH5	Steroid 17-alpha-hydroxylase/17,20 lyase	P05093	CYP17 CYP17A1 S17AH
Defective CYP1B1 causes Glaucoma	Cytochrome P450 1B1	Q16678	CYP1B1
Defective DHDDS causes RP59	Dehydrodolichyl diphosphate synthase complex subunit DHDDS Dehydrodolichyl diphosphate synthase complex subunit NUS1	Q86SQ9 Q96E22	C6orf68 DHDDS HDS NGBR NUS1

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