Homo sapiens (human)

Summary
Taxonomy ID
9606
PubChem Taxonomy
9606
Displaying entries 2026 - 2050 of 2090 in total
Pathway Name Protein Name ▲ UniProt ID Gene Symbol GlyTouCan ID
Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
  • SLC34A2
Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
  • NPT2C
  • NPTIIC
  • SLC34A3
Sodium-coupled phosphate cotransporters
  • GLVR1
  • GLVR2
  • PIT1
  • PIT2
  • SLC20A1
  • SLC20A2
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
  • GLVR2
  • PIT2
  • SLC20A2
Clearance of seratonin
  • HTT
  • SERT
  • SLC6A4
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
  • NAGT
  • SGLT1
  • SLC5A1
Defective SLC5A2 causes renal glucosuria (GLYS1)
  • SGLT2
  • SLC5A2
Sodium/Proton exchangers
  • APNH1
  • KIAA0267
  • KIAA0939
  • NHE1
  • NHE2
  • NHE3
  • NHE4
  • NHE5
  • NHE6
  • NHE7
  • NHE8
  • NHE9
  • SLC9A1
  • SLC9A2
  • SLC9A3
  • SLC9A4
  • SLC9A5
  • SLC9A6
  • SLC9A7
  • SLC9A8
  • SLC9A9
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
  • KIAA0267
  • NHE6
  • SLC9A6
Defective SLC9A9 causes autism 16 (AUTS16)
  • NHE9
  • SLC9A9
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
  • NIS
  • SLC5A5
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
  • KIAA0702
  • NCKX1
  • SLC24A1
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
  • NCKX4
  • SLC24A4
Cation-coupled Chloride cotransporters
  • KCC1
  • KCC2
  • KCC3
  • KCC4
  • KIAA1176
  • NCC
  • NKCC1
  • NKCC2
  • SLC12A1
  • SLC12A2
  • SLC12A3
  • SLC12A4
  • SLC12A5
  • SLC12A6
  • SLC12A7
  • TSC
Defective SLC12A1 causes Bartter syndrome 1 (BS1)
  • NKCC2
  • SLC12A1
Defective SLC12A3 causes Gitelman syndrome (GS)
  • NCC
  • SLC12A3
  • TSC
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
  • KCC3
  • SLC12A6
Proton/oligopeptide cotransporters
  • OCTP
  • PEPT1
  • PEPT2
  • PHT1
  • PHT2
  • PTR3
  • PTR4
  • SLC15A1
  • SLC15A2
  • SLC15A3
  • SLC15A4
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
  • GLUT1
  • SLC2A1
Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
  • GLUT10
  • SLC2A10
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
  • GLUT2
  • SLC2A2
Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
  • GLUT9
  • SLC2A9
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)
  • OATL4
  • SLC22A12
  • URAT1
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
  • LST1
  • OATP1B1
  • OATP2
  • OATPC
  • SLC21A6
  • SLCO1B1
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)
  • LST2
  • OATP1B3
  • OATP8
  • SLC21A8
  • SLCO1B3

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Last updated: August 19, 2024