B4GALT2
Beta-1,4-galactosyltransferase 2
Also known as: B4GT2_HUMAN, beta4Gal-T2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60909
- Gene
- B4GALT2
- Ensembl
- ENSG00000117411
- Chromosome
- 1
- Canonical length
- 372 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted membrane proteins
- Subcellular location
- Golgi apparatus,Vesicles
OverviewNCBI Gene
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
Canonical amino-acid sequenceUniProt
372 residues, UniProt reviewed canonical sequence.
>O60909|B4GALT2
1 MSRLLGGTLE RVCKAVLLLC LLHFLVAVIL YFDVYAQHLA FFSRFSARGP AHALHPAASS
61 SSSSSNCSRP NATASSSGLP EVPSALPGPT APTLPPCPDS PPGLVGRLLI EFTSPMPLER
121 VQRENPGVLM GGRYTPPDCT PAQTVAVIIP FRHREHHLRY WLHYLHPILR RQRLRYGVYV
181 INQHGEDTFN RAKLLNVGFL EALKEDAAYD CFIFSDVDLV PMDDRNLYRC GDQPRHFAIA
241 MDKFGFRLPY AGYFGGVSGL SKAQFLRING FPNEYWGWGG EDDDIFNRIS LTGMKISRPD
301 IRIGRYRMIK HDRDKHNEPN PQRFTKIQNT KLTMKRDGIG SVRYQVLEVS RQPLFTNITV
361 DIGRPPSWPP RGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against B4GALT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 66 nTPM
Expression across tissuesHPA
Tissue
- amygdala: 66 nTPM
- cerebral cortex: 63 nTPM
- hippocampal formation: 53 nTPM
- skeletal muscle: 49 nTPM
- basal ganglia: 42 nTPM
- pancreas: 40 nTPM
Single-cell type
- alveolar cells type 1: 42 nCPM
- pancreatic acinar cells: 38 nCPM
- esophageal basal cells: 28 nCPM
- breast lactating cells: 28 nCPM
- alveolar cells type 2: 25 nCPM
- ocular epithelial cells: 25 nCPM
Immune cell
- MAIT T-cell: 0.6 nTPM
- memory B-cell: 0.2 nTPM
- memory CD8 T-cell: 0.2 nTPM
- memory CD4 T-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
Brain region
- amygdala: 63 nTPM
- hippocampal formation: 57 nTPM
- thalamus: 52 nTPM
- cerebral cortex: 51 nTPM
- midbrain: 49 nTPM
- pons: 47 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0.2
- gnomAD missense Z
- 1.88
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- carbohydrate metabolic process
- cerebellar Purkinje cell layer development
- locomotory behavior
- memory
- visual learning
Molecular functions
- beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
- galactosyltransferase activity
- lactose synthase activity
- metal ion binding
- N-acetyllactosamine synthase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads B4GALT2 as an antibody target. Whether an autoantibody or antibody against B4GALT2 could matter depends on whether native B4GALT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
B4GALT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label B4GALT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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