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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
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)
  • AE1
  • DI
  • EPB3
  • SLC4A1
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
  • NBC
  • NBC1
  • NBCE1
  • SLC4A4
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
  • NAGT
  • SGLT1
  • SLC5A1
Defective SLC5A2 causes renal glucosuria (GLYS1)
  • SGLT2
  • SLC5A2
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
  • NIS
  • SLC5A5
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
  • CHT1
  • SLC5A7
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
  • CHT1
  • SLC5A7
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
  • B0AT3
  • SLC6A18
  • XTRP2
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
  • B0AT3
  • SLC6A18
  • XTRP2
Defective SLC6A19 causes Hartnup disorder (HND)
  • B0AT1
  • SLC6A19
Defective SLC6A19 causes Hartnup disorder (HND)
  • B0AT1
  • SLC6A19
Defective SLC6A2 causes orthostatic intolerance (OI)
  • NAT1
  • NET1
  • SLC6A2
  • SLC6A5
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
  • DAT1
  • SLC6A3
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
  • DAT1
  • SLC6A3
Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
  • GLYT2
  • NET1
  • SLC6A5
Defective SLC7A7 causes lysinuric protein intolerance (LPI)
  • MDU1
  • SLC3A2
  • SLC7A7
Defective SLC7A9 causes cystinuria (CSNU)
  • BAT1
  • NBAT
  • SLC3A1
  • SLC7A9
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
  • KIAA0267
  • NHE6
  • SLC9A6
Defective SLC9A9 causes autism 16 (AUTS16)
  • NHE9
  • SLC9A9
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
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)
  • OATP2A1
  • SLC21A2
  • SLCO2A1
Defective ST3GAL3 causes MCT12 and EIEE15
  • 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
  • CYP5
  • CYP5A1
  • TBXAS1
  • TXAS
Defective TPMT causes TPMT deficiency
  • TPMT
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024