UGT2B28 UDP glucuronosyltransferase family 2 member B28 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UGT2B28provided by HGNC
Official Full Name: UDP glucuronosyltransferase family 2 member B28provided by HGNC
Primary source: HGNC:HGNC:13479
See related: Ensembl:ENSG00000135226 MIM:606497; AllianceGenome:HGNC:13479
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Biased expression in gall bladder (RPKM 10.0) and salivary gland (RPKM 0.9) See more
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Genomic context

Location:: 4q13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (69280475..69295050)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (70146193..70160768)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Extensive metabolic consequences of human glycosyltransferase gene knockouts in prostate cancer.
Title: Extensive metabolic consequences of human glycosyltransferase gene knockouts in prostate cancer.
UGT2B28 accelerates prostate cancer progression through stabilization of the endocytic adaptor protein HIP1 regulating AR and EGFR pathways.
Title: UGT2B28 accelerates prostate cancer progression through stabilization of the endocytic adaptor protein HIP1 regulating AR and EGFR pathways.
Uridine Diphosphate Glucuronosyl Transferase 2B28 (UGT2B28) Promotes Tumor Progression and Is Elevated in African American Prostate Cancer Patients.
Title: Uridine Diphosphate Glucuronosyl Transferase 2B28 (UGT2B28) Promotes Tumor Progression and Is Elevated in African American Prostate Cancer Patients.
Patients with UGT2B28-rs2132039 - TT variant type had an earlier presentation of hepatocellular carcinoma (HCC), earlier post-surgery recurrence, metastasis and HCC-related death.
Title: Ages of hepatocellular carcinoma occurrence and life expectancy are associated with a UGT2B28 genomic variation.
further analysis revealed 2 hemizygous deletions in the grandmother that segregate in several of her affected offspring. The first deletion was found in the UGT2B28 locus, spanning 7 informative sequence variants across at least 14 kb. The second deletion, located in USP17L2, spans 3 informative variants across at least 2 kb. On the whole, the findings of the presents study implicate 2 additional genes in the pathogenesis
Title: Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis.
Our effort identified 2 novel functional regulatory SNPs for UGT2B28, which might contribute to metabolism variation of related steroid hormones in breast.
Title: rs142362919 and rs7681187 Are cis-Regulatory Variations for Human UGT2B28 in Breast.
Findings suggest that the D85Y polymorphism of UGT2B15 and CNVs in UGT2B28 and UGT2B17 genes is not associated with prostate cancer risk in Iranian patients.
Title: Genetic variations in UGT2B28, UGT2B17, UGT2B15 genes and the risk of prostate cancer: A case-control study.
The androgen-inactivating UGT2B28 enzyme influences hormone levels, clinical and pathologic factors, and the risk of prostate cancer progression.
Title: The UGT2B28 Sex-steroid Inactivation Pathway Is a Regulator of Steroidogenesis and Modifies the Risk of Prostate Cancer Progression.
UGT2B28 was clearly detected in breast and adipose tissue; GT2B28 expression in the breast was comparatively low, about 1.6% of GAPDH mRNA levels, and was less than 5% of normalized (against GAPDH) UGT2B7 and 2B10 mRNA expression levels in the liver
Title: Quantitative analysis of UGT2B28 mRNA expression by real-time RT-PCR and application to human tissue distribution study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480568

RW12 (e-PCR)
- UniSTS:241560

SHGC-67828 (e-PCR)
- UniSTS:13519

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glucuronosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular glucuronidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic glucuronidation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: UDP-glucuronosyltransferase 2B28

Names: UDP glucuronosyltransferase 2 family, polypeptide B28; UDP glycosyltransferase 2 family, polypeptide B28; UDPGT 2B28

NP_001193933.1

EC 2.4.1.17

NP_444267.1

EC 2.4.1.17

XP_016863792.1

EC 2.4.1.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029527.1 RefSeqGene

Range

4977..19552

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001207004.2 → NP_001193933.1 UDP-glucuronosyltransferase 2B28 isoform 2 precursor

See identical proteins and their annotated locations for NP_001193933.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two coding exons compared to variant 1, that causes a frameshift.The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC114786, AF177273

Consensus CDS

CCDS56330.1

UniProtKB/Swiss-Prot

Q9BY64

Related

ENSP00000427399.1, ENST00000511240.1

Conserved Domains (2) summary

pfam00201
Location:24 → 335

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

cl10013
Location:26 → 333

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
NM_053039.2 → NP_444267.1 UDP-glucuronosyltransferase 2B28 isoform 1 precursor

See identical proteins and their annotated locations for NP_444267.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC114786, AF177272

Consensus CDS

CCDS3528.1

UniProtKB/Swiss-Prot

B5BUM0, Q9BY62, Q9BY63, Q9BY64

Related

ENSP00000334276.5, ENST00000335568.10

Conserved Domains (2) summary

PHA03392
Location:269 → 506

egt; ecdysteroid UDP-glucosyltransferase; Provisional

pfam00201
Location:24 → 525

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase