Hmdb loader
Survey
You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP09214
Secondary Accession Numbers
  • 14996
Name Beta-1,4 N-acetylgalactosaminyltransferase 2
Synonyms
  1. Sd(a) beta-1,4-GalNAc transferase
  2. UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase
Gene Name B4GALNT2
Protein Type Enzyme
Biological Properties
General Function Involved in transferase activity, transferring hexosyl groups
Specific Function Involved in the synthesis of the Sd(a) antigen (Sia- alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
intrinsic to organelle membrane
intrinsic to golgi membrane
integral to golgi membrane
Function
catalytic activity
transferase activity
transferase activity, transferring hexosyl groups
transferase activity, transferring glycosyl groups
Process
lipid modification
lipid glycosylation
metabolic process
primary metabolic process
lipid metabolic process
cellular lipid metabolic process
Cellular Location
  1. Golgi apparatus membrane
  2. Single-pass type II membrane protein (Potential)
Gene Properties
Chromosome Location Chromosome:1
Locus 17q21.32
SNPs B4GALNT2
Gene Sequence
>1701 bp
ATGGGGAGCGCTGGCTTTTCCGTGGGAAAATTCCACGTGGAAGTGGCCTCTCGCGGCCGG
GAATGTGTCTCGGGGACGCCCGAGTGTGGGAATCGGCTCGGGAGTGCGGGCTTCGGGGCT
CTCTGCTTGGAACTCAGAGGCGCTGACCCAGCCTGGGGCCCGTTTGCTGCCCACGGGAGG
AGCCGCCGTCAGGGCTCGAGATTTCTGTGGCTCCTCAAGATATTGGTCATAATCCTGGTA
CTTGGCATTGTTGGATTTATGTTCGGAAGCATGTTCCTTCAAGCAGTGTTCAGCAGCCCC
AAGCCAGAACTCCCAAGTCCTGCCCCGGGTGTCCAGAAGCTGAAGCTTCTGCCTGAGGAA
CGTCTCAGGAACCTCTTTTCCTACGATGGAATCTGGCTGTTCCCGAAAAATCAGTGCAAA
TGTGAAGCCAACAAAGAGCAGGGAGGTTACAACTTTCAGGATGCCTATGGCCAGAGCGAC
CTCCCAGCGGTGAAAGCGAGGAGACAGGCTGAATTTGAACACTTTCAGAGGAGAGAAGGG
CTGCCCCGCCCACTGCCCCTGCTGGTCCAGCCCAACCTCCCCTTTGGGTACCCAGTCCAC
GGAGTGGAGGTGATGCCCCTGCACACGGTTCCCATCCCAGGCCTCCAGTTTGAAGGACCC
GATGCCCCCGTCTATGAGGTCACCCTGACAGCTTCTCTGGGGACACTGAACACCCTTGCT
GATGTCCCAGACAGTGTGGTGCAGGGCAGAGGCCAGAAGCAGCTGATCATTTCTACCAGT
GACCGGAAGCTGTTGAAGTTCATTCTTCAGCACGTGACATACACCAGCACGGGGTACCAG
CACCAGAAGGTAGACATAGTGAGTCTGGAGTCCAGGTCCTCAGTGGCCAAGTTTCCAGTG
ACCATCCGCCATCCTGTCATACCCAAGCTATACGACCCTGGACCAGAGAGGAAGCTCAGA
AACCTGGTTACCATTGCTACCAAGACTTTCCTCCGCCCCCACAAGCTCATGATCATGCTC
CGGAGTATTCGAGAGTATTACCCAGACTTGACCGTAATAGTGGCTGATGACAGCCAGAAG
CCCCTGGAAATTAAAGACAATCACGTGGAGTATTACACTATGCCCTTTGGGAAGGGTTGG
TTTGCTGGTAGGAACCTGGCCATATCTCAGGTCACCACCAAATACGTTCTCTGGGTGGAC
GATGATTTTCTCTTCAACGAGGAGACCAAGATTGAGGTGCTGGTGGATGTCCTGGAGAAA
ACAGAACTGGACGTGGTAGGCGGCAGTGTGCTGGGAAATGTGTTCCAGTTTAAGTTGTTG
CTGGAACAGAGTGAGAATGGGGCCTGCCTTCACAAGAGGATGGGATTTTTCCAACCCCTG
GATGGCTTCCCCAGCTGCGTGGTGACCAGTGGCGTGGTCAACTTCTTCCTGGCCCACACG
GAGCGACTCCAAAGAGTTGGCTTTGATCCCCGCCTGCAACGAGTGGCTCACTCAGAATTC
TTCATTGATGGGCTAGGGACCCTACTCGTGGGGTCATGCCCAGAAGTGATTATAGGTCAC
CAGTCTCGGTCTCCAGTGGTGGACTCAGAACTGGCTGCCCTAGAGAAGACCTACAATACA
TACCGGTCCAACACCCTCACCCGGGTCCAGTTCAAGCTGGCCCTCCACTACTTCAAGAAC
CATCTCCAATGTGCCGCATAA
Protein Properties
Number of Residues 566
Molecular Weight 63257.6
Theoretical pI 8.72
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 68-88
Protein Sequence
>Beta-1,4 N-acetylgalactosaminyltransferase 2
MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGR
SRRQGSRFLWLLKILVIILVLGIVGFMFGSMFLQAVFSSPKPELPSPAPGVQKLKLLPEE
RLRNLFSYDGIWLFPKNQCKCEANKEQGGYNFQDAYGQSDLPAVKARRQAEFEHFQRREG
LPRPLPLLVQPNLPFGYPVHGVEVMPLHTVPIPGLQFEGPDAPVYEVTLTASLGTLNTLA
DVPDSVVQGRGQKQLIISTSDRKLLKFILQHVTYTSTGYQHQKVDIVSLESRSSVAKFPV
TIRHPVIPKLYDPGPERKLRNLVTIATKTFLRPHKLMIMLRSIREYYPDLTVIVADDSQK
PLEIKDNHVEYYTMPFGKGWFAGRNLAISQVTTKYVLWVDDDFLFNEETKIEVLVDVLEK
TELDVVGGSVLGNVFQFKLLLEQSENGACLHKRMGFFQPLDGFPSCVVTSGVVNFFLAHT
ERLQRVGFDPRLQRVAHSEFFIDGLGTLLVGSCPEVIIGHQSRSPVVDSELAALEKTYNT
YRSNTLTRVQFKLALHYFKNHLQCAA
GenBank ID Protein 227497754
UniProtKB/Swiss-Prot ID Q8NHY0
UniProtKB/Swiss-Prot Entry Name B4GN2_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_153446.2
GeneCard ID B4GALNT2
GenAtlas ID B4GALNT2
HGNC ID HGNC:24136
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20;440(7087):1045-9. [PubMed:16625196 ]
  3. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
  4. Montiel MD, Krzewinski-Recchi MA, Delannoy P, Harduin-Lepers A: Molecular cloning, gene organization and expression of the human UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase responsible for the biosynthesis of the blood group Sda/Cad antigen: evidence for an unusual extended cytoplasmic domain. Biochem J. 2003 Jul 15;373(Pt 2):369-79. [PubMed:12678917 ]
  5. Lo Presti L, Cabuy E, Chiricolo M, Dall'Olio F: Molecular cloning of the human beta1,4 N-acetylgalactosaminyltransferase responsible for the biosynthesis of the Sd(a) histo-blood group antigen: the sequence predicts a very long cytoplasmic domain. J Biochem. 2003 Nov;134(5):675-82. [PubMed:14688233 ]