GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **501 - 525** of **2090** in total

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Pathway Name ▲	Protein Name	UniProt ID	Gene Symbol	GlyTouCan ID
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)	Band 3 anion transport protein	P02730	AE1 DI EPB3 SLC4A1
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)	Electrogenic sodium bicarbonate cotransporter 1	Q9Y6R1	NBC NBC1 NBCE1 SLC4A4
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)	Sodium/glucose cotransporter 1	P13866	NAGT SGLT1 SLC5A1	G58161NS
Defective SLC5A2 causes renal glucosuria (GLYS1)	Sodium/glucose cotransporter 2	P31639	SGLT2 SLC5A2	G58161NS
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)	Sodium/iodide cotransporter	Q92911	NIS SLC5A5
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)	High affinity choline transporter 1	Q9GZV3	CHT1 SLC5A7
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)	High affinity choline transporter 1	Q9GZV3	CHT1 SLC5A7
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria	Inactive sodium-dependent neutral amino acid transporter B(0)AT3	Q96N87	B0AT3 SLC6A18 XTRP2
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria	Inactive sodium-dependent neutral amino acid transporter B(0)AT3	Q96N87	B0AT3 SLC6A18 XTRP2
Defective SLC6A19 causes Hartnup disorder (HND)	Sodium-dependent neutral amino acid transporter B(0)AT1	Q695T7	B0AT1 SLC6A19
Defective SLC6A19 causes Hartnup disorder (HND)	Sodium-dependent neutral amino acid transporter B(0)AT1	Q695T7	B0AT1 SLC6A19
Defective SLC6A2 causes orthostatic intolerance (OI)	Sodium-dependent noradrenaline transporter	P23975	NAT1 NET1 SLC6A2 SLC6A5
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)	Sodium-dependent dopamine transporter	Q01959	DAT1 SLC6A3
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)	Sodium-dependent dopamine transporter	Q01959	DAT1 SLC6A3
Defective SLC6A5 causes hyperekplexia 3 (HKPX3)	Sodium- and chloride-dependent glycine transporter 2	Q9Y345	GLYT2 NET1 SLC6A5
Defective SLC7A7 causes lysinuric protein intolerance (LPI)	Amino acid transporter heavy chain SLC3A2 Y+L amino acid transporter 1	P08195 Q9UM01	MDU1 SLC3A2 SLC7A7
Defective SLC7A9 causes cystinuria (CSNU)	Amino acid transporter heavy chain SLC3A1 b(0,+)-type amino acid transporter 1	P82251 Q07837	BAT1 NBAT SLC3A1 SLC7A9
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)	Sodium/hydrogen exchanger 6	Q92581	KIAA0267 NHE6 SLC9A6
Defective SLC9A9 causes autism 16 (AUTS16)	Sodium/hydrogen exchanger 9	Q8IVB4	NHE9 SLC9A9
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)	Solute carrier organic anion transporter family member 1B1	Q9Y6L6	LST1 OATP1B1 OATP2 OATPC SLC21A6 SLCO1B1
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)	Solute carrier organic anion transporter family member 1B3	Q9NPD5	LST2 OATP1B3 OATP8 SLC21A8 SLCO1B3
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)	Solute carrier organic anion transporter family member 2A1	Q92959	OATP2A1 SLC21A2 SLCO2A1
Defective ST3GAL3 causes MCT12 and EIEE15	Aggrecan core protein CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase Fibromodulin Keratocan Lumican Mimecan Osteomodulin Prolargin	O60938 P16112 P20774 P51884 P51888 Q06828 Q11203 Q99983	ACAN AGC1 CSPG1 FM FMOD KERA LDC LUM MSK16 OGN OIF OMD PRELP SIAT6 SLRR2A SLRR2B SLRR2C SLRR2D SLRR2E SLRR3A ST3GAL3
Defective TBXAS1 causes GHDD	Thromboxane-A synthase	P24557	CYP5 CYP5A1 TBXAS1 TXAS
Defective TPMT causes TPMT deficiency	Thiopurine S-methyltransferase	P51580	TPMT

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