This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Two transc... See more...

Aliases for UGT2B28 Gene

Aliases for UGT2B28 Gene

  • UDP Glucuronosyltransferase Family 2 Member B28 2 3 5
  • UDP Glycosyltransferase 2 Family, Polypeptide B28 2 3
  • UDP-Glucuronosyltransferase 2B28 3 4
  • EC 2.4.1.17 4 50
  • UDPGT 2B28 3 4
  • UDP Glucuronosyltransferase 2 Family, Polypeptide B28 3
  • UGT2B28 5

External Ids for UGT2B28 Gene

Previous GeneCards Identifiers for UGT2B28 Gene

  • GC04M070372
  • GC04P070194
  • GC04P070396
  • GC04P070461
  • GC04P070327
  • GC04P065944

Summaries for UGT2B28 Gene

Entrez Gene Summary for UGT2B28 Gene

  • This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Two transcript variants encoding different isoforms have been found for this gene. While both isoforms are targeted to the endoplasmic reticulum, only the longer isoform appears to be active. [provided by RefSeq, May 2011]

GeneCards Summary for UGT2B28 Gene

UGT2B28 (UDP Glucuronosyltransferase Family 2 Member B28) is a Protein Coding gene. Diseases associated with UGT2B28 include Crigler-Najjar Syndrome, Type I and Gilbert Syndrome. Among its related pathways are Drug metabolism - cytochrome P450 and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT2B11.

UniProtKB/Swiss-Prot Summary for UGT2B28 Gene

  • [Isoform 1]: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:11300766). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:11300766). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (androsterone, 3alpha-androstanediol) and estrogens (estradiol, estrone) (PubMed:11300766). Catalyzes the glucuronidation of bile acid substrates, which are natural detergents for dietary lipids absorption (PubMed:11300766). Displays glucuronidation activity toward the phenolic compounds eugenol (PubMed:11300766).
  • [Isoform 2]: Lack UDP-glucuronosyltransferase (UGT) activity.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UGT2B28 Gene

Genomics for UGT2B28 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UGT2B28 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J069280 Promoter 0.4 EPDnew 250.7 +0.0 27 0.1 ZFP36 UGT2B28 HSALNG0034969 HSALNG0034954-001 HSALNG0034954-002 UGT2B4
GH04J068946 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -329.7 -329718 7.8 NCOR1 SSRP1 CEBPA ATF3 CHD4 YY1 KLF11 HOMEZ KMT2B THAP11 UGT2A3 LOC105377267 UGT2B7 UGT2B28 UGT2B11 UGT2B15 UGT2B10 piR-55194-259
GH04J069095 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 12.7 -183.4 -183406 4 CEBPA ATF3 CHD4 YY1 MXD4 FOXA1 HOMEZ THAP11 FOXA2 KDM6A UGT2B7 UGT2B28 LOC105377267 UGT2A3 HSALNG0034957 ENSG00000248763 UGT2B11 HSALNG0034954-001
GH04J069053 Enhancer 1.1 Ensembl ENCODE 11.5 -223.4 -223374 7.5 KLF9 CEBPA YY1 MXD4 ZNF592 KLF11 HOMEZ KMT2B FOXA2 ZNF511 UGT2B7 LOC105377267 UGT2B28 UGT2A3 CSN1S1 LOC105377265 piR-39781-031 HSALNG0034956 UGT2B11 HSALNG0034954-001
GH04J069025 Enhancer 0.9 Ensembl ENCODE 10.5 -254.8 -254833 0.8 CEBPA HOMEZ CTCF KMT2B THAP11 FOXA2 SMAD4 SMC3 DRAP1 ZNF205 YTHDC1 UGT2B28 UGT2B7 LOC100422020 UGT2B26P lnc-UGT2A3-9 UGT2A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UGT2B28 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UGT2B28

Top Transcription factor binding sites by QIAGEN in the UGT2B28 gene promoter:
  • AML1a
  • C/EBPbeta
  • E47
  • FOXD1
  • FOXO1
  • FOXO1a
  • Hand1
  • Nkx2-2

Genomic Locations for UGT2B28 Gene

Latest Assembly
chr4:69,280,429-69,295,050
(GRCh38/hg38)
Size:
14,622 bases
Orientation:
Plus strand

Previous Assembly
chr4:70,146,193-70,160,768
(GRCh37/hg19 by Entrez Gene)
Size:
14,576 bases
Orientation:
Plus strand

chr4:70,146,217-70,160,768
(GRCh37/hg19 by Ensembl)
Size:
14,552 bases
Orientation:
Plus strand

Genomic View for UGT2B28 Gene

Genes around UGT2B28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT2B28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT2B28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT2B28 Gene

Proteins for UGT2B28 Gene

  • Protein details for UGT2B28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BY64-UDB28_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 2B28
    Protein Accession:
    Q9BY64
    Secondary Accessions:
    • B5BUM0
    • Q9BY62
    • Q9BY63

    Protein attributes for UGT2B28 Gene

    Size:
    529 amino acids
    Molecular mass:
    60906 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK31809.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for UGT2B28 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UGT2B28 Gene

Selected DME Specific Peptides for UGT2B28 Gene

Q9BY64:
  • AFITHGG
  • HKGAKHLR
  • FVQSSGE
  • CKDVVSNK
  • KLQESRFD
  • YEAIYHG
  • RGHEVTVL
  • DVIGFLL
  • FVGGLHC
  • KKWDQFYSEVLGRPTTL
  • WIPQNDLLG
  • FLLACVA
  • IPQKVLW
  • DQPDNIAHMK
  • THGGANG
  • DLLNALK
  • FPHPFLPN
  • FWLYFSQ
  • WMNMKTIL
  • MTFMERV
  • CGKVLVW
  • QYHSLDV
  • TMSSTDL
  • NALKTVINDP
  • NTRLYKW
  • ERVKNMIY

Post-translational modifications for UGT2B28 Gene

  • Glycosylation at Asn315
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT2B28 Gene

Domains & Families for UGT2B28 Gene

Gene Families for UGT2B28 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for UGT2B28 Gene

InterPro:
Blocks:
  • UDP-glucoronosyl/UDP-glucosyl transferase

Suggested Antigen Peptide Sequences for UGT2B28 Gene

GenScript: Design optimal peptide antigens:
  • UDP-glucuronosyltransferase 2B28 (UDB28_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BY64

UniProtKB/Swiss-Prot:

UDB28_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT2B28: view

Function for UGT2B28 Gene

Molecular function for UGT2B28 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:11300766). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:11300766). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (androsterone, 3alpha-androstanediol) and estrogens (estradiol, estrone) (PubMed:11300766). Catalyzes the glucuronidation of bile acid substrates, which are natural detergents for dietary lipids absorption (PubMed:11300766). Displays glucuronidation activity toward the phenolic compounds eugenol (PubMed:11300766).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Lack UDP-glucuronosyltransferase (UGT) activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + H(+) + UDP; Xref=Rhea:RHEA:21032, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132367, ChEBI:CHEBI:132368; EC=2.4.1.17; Evidence={ECO:0000269|PubMed:11300766};.

Enzyme Numbers (IUBMB) for UGT2B28 Gene

Phenotypes From GWAS Catalog for UGT2B28 Gene

Gene Ontology (GO) - Molecular Function for UGT2B28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008194 UDP-glycosyltransferase activity IEA,IBA 21873635
GO:0015020 glucuronosyltransferase activity IEA,IDA 11300766
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UGT2B28: view
genes like me logo Genes that share phenotypes with UGT2B28: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT2B28

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UGT2B28 Gene

Localization for UGT2B28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT2B28 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UGT2B28 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
plasma membrane 2
peroxisome 2
golgi apparatus 2
mitochondrion 1
cytosol 1
cytoskeleton 0

Gene Ontology (GO) - Cellular Components for UGT2B28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane IDA 11300766
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 11300766
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with UGT2B28: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGT2B28 Gene

Pathways & Interactions for UGT2B28 Gene

genes like me logo Genes that share pathways with UGT2B28: view

Pathways by source for UGT2B28 Gene

2 BioSystems pathways for UGT2B28 Gene
1 GeneGo (Thomson Reuters) pathway for UGT2B28 Gene
  • Estradiol metabolism

Gene Ontology (GO) - Biological Process for UGT2B28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008202 steroid metabolic process IDA 11300766
GO:0052697 xenobiotic glucuronidation IDA 11300766
genes like me logo Genes that share ontologies with UGT2B28: view

No data available for SIGNOR curated interactions for UGT2B28 Gene

Drugs & Compounds for UGT2B28 Gene

(18) Drugs for UGT2B28 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Codeine Approved, Illicit Pharma 98
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1160
Estriol Approved, Investigational, Vet_approved Pharma 0
Estrone Approved Pharma Estrogenic hormone 24
Eugenol Approved Pharma 28

(77) Additional Compounds for UGT2B28 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-Dihdroxy-24-oxovitamine D3 23-(b-glucuronide)
  • (23S)-23,25-Dihdroxy-24-oxovitamine D3 23-(β-glucuronide)
  • (23S)-23,25-Dihdroxy-24-oxovitamine D3 23-(beta-glucuronoside)
  • (23S)-23,25-Dihydroxy-24-oxocholecalciferol 23-(beta-glucuronide)
  • (23S)-23,25-Dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
11-Hydroxyprogesterone 11-glucuronide
  • 11-HPG
  • 11-Hydroxyprogesterone 11-glucuronoside
  • 11alpha-Glucuronylprogesterone
  • 11alpha-Hydroxyprogesterone 11-glucuronide
  • 11alpha-Hydroxyprogesterone 11-glucuronoside
77710-64-6
15-Hydroxynorandrostene-3,17-dione glucuronide
  • 15-HNADG
  • 15-Hydroxynorandrostene-3,17-dione glucuronoside
  • 15alpha-Hydroxynorandrost-4-ene-3,17-dione glucuronide
  • 15alpha-Hydroxynorandrost-4-ene-3,17-dione glucuronoside
  • Androst-4-ene-3,17-dione, 15-hydroxy glucuronide
131749-23-0
17-alpha-Estradiol-3-glucuronide
  • 17-a-Estradiol-3-glucuronide
  • 17-Α-estradiol-3-glucuronide
17-beta-Estradiol glucuronide
  • 17-b-Estradiol glucuronide
  • 17-Β-estradiol glucuronide
  • beta-Estradiol 17-beta-D-glucuronide
  • e(2)17g CPD
  • Estradiol-17 beta-glucuronide, monosodium salt
genes like me logo Genes that share compounds with UGT2B28: view

Transcripts for UGT2B28 Gene

mRNA/cDNA for UGT2B28 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGT2B28

Alternative Splicing Database (ASD) splice patterns (SP) for UGT2B28 Gene

No ASD Table

Relevant External Links for UGT2B28 Gene

GeneLoc Exon Structure for
UGT2B28

Expression for UGT2B28 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UGT2B28 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UGT2B28 Gene

This gene is overexpressed in Bladder (x19.7), Liver (x11.1), Skin - Not Sun Exposed (Suprapubic) (x6.7), and Breast - Mammary Tissue (x4.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UGT2B28 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGT2B28

SOURCE GeneReport for Unigene cluster for UGT2B28 Gene:

Hs.653154

mRNA Expression by UniProt/SwissProt for UGT2B28 Gene:

Q9BY64-UDB28_HUMAN
Tissue specificity: Expressed in the liver, breast and kidney.

Evidence on tissue expression from TISSUES for UGT2B28 Gene

  • Liver(2.8)
genes like me logo Genes that share expression patterns with UGT2B28: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT2B28 Gene

Orthologs for UGT2B28 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT2B28 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 30
  • 94 (a)
OneToMany
UGT2B28 29
  • 93.7 (n)
Dog
(Canis familiaris)
Mammalia UGT2B31 30
  • 73 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Ugt2b5 29 16
  • 72.34 (n)
Ugt2b34 30
  • 67 (a)
ManyToMany
Ugt2b37 16
Ugt2b38 16
Rat
(Rattus norvegicus)
Mammalia Ugt2b 29
  • 70.83 (n)
Cow
(Bos Taurus)
Mammalia -- 30
  • 70 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ugt86Dg 31
  • 34 (a)
Ugt35b 31
  • 33 (a)
Ugt86Dd 31
  • 31 (a)
CG15661 31
  • 30 (a)
Ugt35a 31
  • 30 (a)
Ugt86Di 31
  • 29 (a)
Ugt36Bb 31
  • 28 (a)
Ugt37b1 31
  • 26 (a)
CG17323 31
  • 26 (a)
Ugt36Bc 31
  • 25 (a)
CG10168 31
  • 24 (a)
CG10170 31
  • 24 (a)
Worm
(Caenorhabditis elegans)
Secernentea M88.1 31
  • 29 (a)
F39G3.1 31
  • 28 (a)
T25B9.7 31
  • 26 (a)
C18C4.3 31
  • 26 (a)
C03A7.11 31
  • 25 (a)
Y37E11AR.5 31
  • 25 (a)
C44H9.1 31
  • 25 (a)
T03D3.1 31
  • 25 (a)
T19H12.11 31
  • 24 (a)
F56B3.7 31
  • 24 (a)
ZC455.3 31
  • 23 (a)
Species where no ortholog for UGT2B28 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for UGT2B28 Gene

ENSEMBL:
Gene Tree for UGT2B28 (if available)
TreeFam:
Gene Tree for UGT2B28 (if available)
Alliance of Genome Resources:
Additional Orthologs for UGT2B28

Paralogs for UGT2B28 Gene

Pseudogenes.org Pseudogenes for UGT2B28 Gene

genes like me logo Genes that share paralogs with UGT2B28: view

Variants for UGT2B28 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UGT2B28 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs112419119 Benign: not provided 69,286,847(+) C/T
NM_053039.2(UGT2B28):c.966C>T (p.Asn322=)
SYNONYMOUS
rs143923386 Benign: not provided 69,289,743(+) G/T
NM_053039.2(UGT2B28):c.1081G>T (p.Asp361Tyr)
MISSENSE_VARIANT,INTRON
rs145824092 Benign: not provided 69,280,747(+) A/G
NM_053039.2(UGT2B28):c.247A>G (p.Lys83Glu)
MISSENSE
rs150261084 Likely Benign: not provided 69,280,705(+) G/A
NM_053039.2(UGT2B28):c.205G>A (p.Ala69Thr)
MISSENSE
rs4235127 -- p.Leu365His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UGT2B28 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UGT2B28 Gene

Variant ID Type Subtype PubMed ID
dgv121e203 CNV gain+loss 21179565
dgv17n31 CNV gain 19718026
dgv195n111 CNV deletion 26073780
dgv2821n106 CNV deletion 24896259
dgv5295n100 CNV gain 25217958
dgv5296n100 CNV gain 25217958
dgv5297n100 CNV loss 25217958
dgv5298n100 CNV gain 25217958
dgv5299n100 CNV gain 25217958
dgv5300n100 CNV gain+loss 25217958
dgv5301n100 CNV loss 25217958
dgv5302n100 CNV gain+loss 25217958
dgv5303n100 CNV loss 25217958
dgv5304n100 CNV gain+loss 25217958
dgv5305n100 CNV loss 25217958
dgv5306n100 CNV gain+loss 25217958
dgv5307n100 CNV loss 25217958
dgv5308n100 CNV gain+loss 25217958
dgv5309n100 CNV gain 25217958
dgv5310n100 CNV loss 25217958
dgv5311n100 CNV loss 25217958
dgv5312n100 CNV loss 25217958
dgv5313n100 CNV loss 25217958
dgv5314n100 CNV loss 25217958
dgv844e201 CNV deletion 23290073
dgv845e201 CNV deletion 23290073
dgv878n67 CNV loss 20364138
dgv9113n54 CNV loss 21841781
dgv9114n54 CNV loss 21841781
dgv9115n54 CNV loss 21841781
dgv9116n54 CNV loss 21841781
dgv92n16 CNV deletion 17901297
dgv952e199 CNV deletion 23128226
esv2421696 CNV deletion 20811451
esv2670036 CNV deletion 23128226
esv2727775 CNV deletion 23290073
esv2727780 CNV deletion 23290073
esv2759258 CNV gain+loss 17122850
esv28328 CNV gain+loss 19812545
esv29954 CNV loss 18421352
esv33154 CNV loss 17666407
esv33234 CNV gain 17666407
esv3584807 CNV loss 24956385
esv3600896 CNV loss 21293372
esv3600897 CNV loss 21293372
esv3600898 CNV gain 21293372
esv3893949 CNV loss 25118596
esv3893950 CNV gain 25118596
esv3893951 CNV loss 25118596
nsv1002753 CNV loss 25217958
nsv1006071 CNV loss 25217958
nsv10524 CNV gain+loss 18304495
nsv1067929 OTHER inversion 25765185
nsv1073343 CNV deletion 25765185
nsv1130819 CNV deletion 24896259
nsv436676 OTHER inversion 17901297
nsv436948 CNV loss 16327808
nsv436949 CNV loss 16327808
nsv4374 CNV deletion 18451855
nsv437922 CNV loss 16468122
nsv442911 CNV loss 18776908
nsv469562 CNV loss 16826518
nsv471625 CNV loss 15918152
nsv499045 CNV loss 21111241
nsv510922 OTHER complex 20534489
nsv514224 CNV loss 21397061
nsv594584 CNV loss 21841781
nsv594586 CNV gain 21841781
nsv594594 CNV loss 21841781
nsv594598 CNV loss 21841781
nsv820690 CNV deletion 20802225
nsv822596 CNV loss 20364138
nsv822599 CNV gain 20364138
nsv964063 CNV duplication 23825009
nsv997506 CNV gain 25217958

Variation tolerance for UGT2B28 Gene

Residual Variation Intolerance Score: 96.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.98; 98.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT2B28 Gene

Human Gene Mutation Database (HGMD)
UGT2B28
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT2B28
Leiden Open Variation Database (LOVD)
UGT2B28

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT2B28 Gene

Disorders for UGT2B28 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UGT2B28 Gene - From: COP

Disorder Aliases PubMed IDs
crigler-najjar syndrome, type i
  • hyperbilirubinemia, crigler-najjar type i; hblrcn1
gilbert syndrome
  • hyperbilirubinemia, gilbert type; hblrg
bilirubin metabolic disorder
  • hereditary hyperbilirubinemia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UGT2B28

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with UGT2B28: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGT2B28 Gene

Publications for UGT2B28 Gene

  1. Isolation and characterization of the UGT2B28 cDNA encoding a novel human steroid conjugating UDP-glucuronosyltransferase. (PMID: 11300766) Lévesque E … Bélanger A (Biochemistry 2001) 2 3 4 22
  2. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PMID: 19898482) Ross CJ … CPNDS Consortium (Nature genetics 2009) 3 40
  3. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. (PMID: 30652415) Liu Y … Chen L (Cancer medicine 2019) 3
  4. Ages of hepatocellular carcinoma occurrence and life expectancy are associated with a UGT2B28 genomic variation. (PMID: 31805979) Le PH … Liang KH (BMC cancer 2019) 3
  5. Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis. (PMID: 30628680) Albertsen HM … Goulielmos GN (Molecular medicine reports 2019) 3

Products for UGT2B28 Gene

Sources for UGT2B28 Gene