• Gene id: 28

Gene Summary

• Gene Symbol: ABO   Gene   UCSC   Ensembl
• Aliases: A3GALNT, A3GALT1, GTB, NAGAT
• Gene name: ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
• Alternate names: histo-blood group ABO system transferase, ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), B(A) alpha-1,3-galactosyltransferase, histo-blood group A2 transferase,
• Gene location: 9q34.2 (133275200: 133250400)     Exons: 7     NC_000009.12
• Gene summary(Entrez): This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' bloo
• OMIM: 611108

SNPs

rs868256749

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

rs147579680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

rs62180545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

rs55763075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs11677854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48664148C>T
NC_000002.11   g.48891287C>T
NG_033050.2   g.139224C>T
NG_033050.1   g.139224C>T|SEQ=[C/T]|GENE=GTF2A1L
STON1-GTF2A1L   286749

rs4045481

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs757230

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102132A>G
NC_000019.9   g.1102131A>G
NG_050621.1   g.3207A>G|SEQ=[A/G]|GENE=GPX4

rs757229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102115G>A
NC_000019.10   g.1102115G>C
NC_000019.10   g.1102115G>T
NC_000019.9   g.1102114G>A
NC_000019.9   g.1102114G>C
NC_000019.9   g.1102114G>T
NG_050621.1   g.3190G>A
NG_050621.1   g.3190G>C
NG_050621.1   g.3190G>T|SEQ=[G/A/C/T]|GENE=GPX4

rs718772

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30108218A>C
NC_000022.11   g.30108218A>G
NC_000022.10   g.30504207A>C
NC_000022.10   g.30504207A>G|SEQ=[A/C/G]|GENE=HORMAD2

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

rs10762738

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

rs79822589

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86565961T>C
NC_000001.10   g.87031644T>C
NM_012128.4   c.895T>C
NM_012128.3   c.895T>C
XM_011541015.2   c.742T>C
NR_024602.1   n.830T>C
NR_024602.2   n.828T>C|SEQ=[T/C]|GENE=CLCA4

rs763334876

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86567425G>A
NC_000001.10   g.87033108G>A
NM_012128.4   c.956G>A
NM_012128.3   c.956G>A
XM_011541015.2   c.803G>A
NR_024602.1   n.891G>A
NR_024602.2   n.889G>A
NP_036260.2   p.Gly319Asp
XP_011539317.1   p.Gly268Asp|SEQ=[G/A]|GENE=CLCA4

rs759981524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs190628533

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86560300C>T
NC_000001.10   g.87025983C>T
NM_012128.4   c.390C>T
NM_012128.3   c.390C>T
XM_011541015.2   c.237C>T
NR_024602.1   n.434C>T
NR_024602.2   n.432C>T|SEQ=[C/T]|GENE=CLCA4

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs12470652

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694299T>C
NC_000002.11   g.48921438T>C
NG_033050.2   g.169375T>C
NG_033050.1   g.169375T>C
NG_008193.2   g.66443A>G
NG_008193.1   g.66443A>G
NM_000233.4   c.872A>G
NM_000233.3   c.872A>G
XM_005264309.3   c.-69A>G
XM_017004089.1   c.617A>G
XM_017004090  

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs6080550

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs1800566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.69711242G>A
NC_000016.9   g.69745145G>A
NG_011504.2   g.20389C>T
NG_011504.1   g.20389C>T
NM_000903.3   c.559C>T
NM_000903.2   c.559C>T
NM_001025433.2   c.457C>T
NM_001025433.1   c.457C>T
NM_001025434.2   c.445C>T
NM_001025434.1   c.445C>T
NM_001286137.  

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

rs3021522

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

rs8135823

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30126470T>G
NC_000022.10   g.30522459T>G|SEQ=[T/G]|GENE=HORMAD2

rs11090601

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30171741A>C
NC_000022.10   g.30567730A>C|SEQ=[A/C]|GENE=HORMAD2

rs4823073

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30116269G>A
NC_000022.10   g.30512258G>A|SEQ=[G/A]|GENE=HORMAD2

rs9620953

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30150256C>T
NC_000022.10   g.30546245C>T|SEQ=[C/T]|GENE=HORMAD2

rs9625930

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30152633G>A
NC_000022.10   g.30548622G>A|SEQ=[G/A]|GENE=HORMAD2

rs975704

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30176747G>A
NC_000022.10   g.30572736G>A
NM_152510.3   c.*580G>A
NM_152510.4   c.*580G>A
NM_152510.2   c.*580G>A
XM_011529917.3   c.*580G>A
NM_001329457.1   c.*580G>A
NM_001329457.2   c.*580G>A
NM_001329458.1   c.*580G>A
NM_001329458.2   c.*580G>A|SEQ=[

rs4588110

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102140A>C
NC_000019.10   g.1102140A>G
NC_000019.10   g.1102140A>T
NC_000019.9   g.1102139A>C
NC_000019.9   g.1102139A>G
NC_000019.9   g.1102139A>T
NG_050621.1   g.3215A>C
NG_050621.1   g.3215A>G
NG_050621.1   g.3215A>T|SEQ=[A/C/G/T]|GENE=GPX4

rs3746165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102212A>G
NC_000019.10   g.1102212A>T
NC_000019.9   g.1102211A>G
NC_000019.9   g.1102211A>T
NG_050621.1   g.3287A>G
NG_050621.1   g.3287A>T|SEQ=[A/G/T]|GENE=GPX4

rs3746166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102176C>T
NC_000019.9   g.1102175C>T
NG_050621.1   g.3251C>T|SEQ=[C/T]|GENE=GPX4

rs758130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.89330566A>G
NC_000015.9   g.89873797A>G
NG_008218.2   g.9230T>C|SEQ=[A/G]|GENE=POLG

rs2238296

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.89332098A>G
NC_000015.9   g.89875329A>G
NG_008218.2   g.7698T>C|SEQ=[A/G]|GENE=POLG

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

rs3788862

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.43658116A>C
NC_000023.11   g.43658116A>G
NC_000023.10   g.43517364A>C
NC_000023.10   g.43517364A>G
NG_008957.2   g.6956A>C
NG_008957.2   g.6956A>G|SEQ=[A/C/G]|GENE=MAOA

Protein Summary

• Protein general information: P16442  
  • Name: Histo blood group ABO system transferase (Fucosylglycoprotein 3 alpha galactosyltransferase) (Fucosylglycoprotein alpha N acetylgalactosaminyltransferase) (Glycoprotein fucosylgalactoside alpha N acetylgalactosaminyltransferase) (EC 2.4.1.40) (Glycoprotei
  • Length: 354  
  • Mass: 40934
• Sequence:

  MAEVLRTLAGKPKCHALRPMILFLIMLVLVLFGYGVLSPRSLMPGSLERGFCMAVREPDHLQRVSLPRMVYPQPK
  VLTPCRKDVLVVTPWLAPIVWEGTFNIDILNEQFRLQNTTIGLTVFAIKKYVAFLKLFLETAEKHFMVGHRVHYY
  VFTDQPAAVPRVTLGTGRQLSVLEVRAYKRWQDVSMRRMEMISDFCERRFLSEVDYLVCVDVDMEFRDHVGVEIL
  TPLFGTLHPGFYGSSREAFTYERRPQSQAYIPKDEGDFYYLGGFFGGSVQEVQRLTRACHQAMMVDQANGIEAVW
  HDESHLNKYLLRHKPTKVLSPEYLWDQQLLGWPAVLRKLRFTAVPKNHQAVRNP

• Structural information:
  • Interpro: IPR005076  IPR029044  
  • PDB: 1LZ0 1LZ7 1LZI 1LZJ 1R7T 1R7U 1R7V 1R7X 1R7Y 1R80 1R81 1R82 1WSZ 1WT0 1WT1 1WT2 1WT3 1XZ6 1ZHJ 1ZI1 1ZI3 1ZI4 1ZI5 1ZIZ 1ZJ0 1ZJ1 1ZJ2 1ZJ3 1ZJO 1ZJP 2A8U 2A8W 2I7B 2O1F 2O1G 2O1H 2PGV 2PGY 2RIT 2RIX 2RIY 2RIZ 2RJ0 2RJ1 2RJ4 2RJ5 2RJ6 2RJ7 2RJ8 2RJ9 2Y7A 3I0C 3I0D 3I0E 3I0F 3I0G 3I0H 3I0I 3I0J 3I0K 3I0L 3IOH 3IOI 3IO
  • PDBsum: 1LZ0 1LZ7 1LZI 1LZJ 1R7T 1R7U 1R7V 1R7X 1R7Y 1R80 1R81 1R82 1WSZ 1WT0 1WT1 1WT2 1WT3 1XZ6 1ZHJ 1ZI1 1ZI3 1ZI4 1ZI5 1ZIZ 1ZJ0 1ZJ1 1ZJ2 1ZJ3 1ZJO 1ZJP 2A8U 2A8W 2I7B 2O1F 2O1G 2O1H 2PGV 2PGY 2RIT 2RIX 2RIY 2RIZ 2RJ0 2RJ1 2RJ4 2RJ5 2RJ6 2RJ7 2RJ8 2RJ9 2Y7A 3I0C 3I0D 3I0E 3I0F 3I0G 3I0H 3I0I 3I0J 3I0K 3I0L 3IOH 3IOI 3IO
  • STRING: ENSP00000483018
• Other Databases: GeneCards:  ABO  Malacards:  ABO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030259	lipid glycosylation	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0031982	vesicle	IBA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0004380	glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016758	transferase activity, transferring hexosyl groups	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0004381	fucosylgalactoside 3-alpha-galactosyltransferase activity	IEA	molecular function
GO:0004380	glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0000166	nucleotide binding	IMP	molecular function
GO:0003823	antigen binding	IMP	molecular function
GO:0030145	manganese ion binding	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00601	Glycosphingolipid biosynthesis - lacto and neolacto series

Diseases

Associated diseases	References
leukemia	PMID:18426641
pulmonary sarcoidosis	PMID:9036208
pancreatic cancer	PMID:20103627
Asthma	PMID:16008680
gallbladder carcinoma	PMID:7795450
Hemolytic anemia	PMID:3136561
acute lymphocytic leukemia	PMID:17065136
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq