UGT2B17 UDP glucuronosyltransferase family 2 member B17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UGT2B17provided by HGNC
Official Full Name: UDP glucuronosyltransferase family 2 member B17provided by HGNC
Primary source: HGNC:HGNC:12547
See related: Ensembl:ENSG00000197888 MIM:601903; AllianceGenome:HGNC:12547
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
Also known as: BMND12; UDPGT2B17
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. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]
Expression: Biased expression in small intestine (RPKM 270.0), colon (RPKM 223.4) and 4 other tissues See more
Orthologs: all
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Genomic context

Location:: 4q13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (68537173..68576322, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (71978248..72017397, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (69402891..69442040, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Promiscuity and Quantitative Contribution of UGT2B17 in Drug and Steroid Metabolism Determined by Experimental and Computational Approaches.
Title: Promiscuity and Quantitative Contribution of UGT2B17 in Drug and Steroid Metabolism Determined by Experimental and Computational Approaches.
A Non-Canonical Role for the Glycosyltransferase Enzyme UGT2B17 as a Novel Constituent of the B Cell Receptor Signalosome.
Title: A Non-Canonical Role for the Glycosyltransferase Enzyme UGT2B17 as a Novel Constituent of the B Cell Receptor Signalosome.
Extensive metabolic consequences of human glycosyltransferase gene knockouts in prostate cancer.
Title: Extensive metabolic consequences of human glycosyltransferase gene knockouts in prostate cancer.
Genes ACOT1, GSTM1, SIGLEC14 and UGT2B17 are identified as highly absent genes in gastric cancer population.
Title: Pangenomic analysis of Chinese gastric cancer.
Expression of UDP Glucuronosyltransferases 2B15 and 2B17 is associated with methylation status in prostate cancer cells.
Title: Expression of UDP Glucuronosyltransferases 2B15 and 2B17 is associated with methylation status in prostate cancer cells.
Potential Assessment of UGT2B17 Inhibition by Salicylic Acid in Human Supersomes In Vitro.
Title: Potential Assessment of UGT2B17 Inhibition by Salicylic Acid in Human Supersomes In Vitro.
UGT2B17 modifies drug response in chronic lymphocytic leukaemia.
Title: UGT2B17 modifies drug response in chronic lymphocytic leukaemia.
Alternative promoters control UGT2B17-dependent androgen catabolism in prostate cancer and its influence on progression.
Title: Alternative promoters control UGT2B17-dependent androgen catabolism in prostate cancer and its influence on progression.
Prognostic impact of genetic variants of CYP19A1 and UGT2B17 in a randomized trial for endocrine-responsive postmenopausal breast cancer.
Title: Prognostic impact of genetic variants of CYP19A1 and UGT2B17 in a randomized trial for endocrine-responsive postmenopausal breast cancer.
UGT2B17 and miR-224 contribute to hormone dependency trends in adenocarcinoma and squamous cell carcinoma of esophagus.
Title: UGT2B17 and miR-224 contribute to hormone dependency trends in adenocarcinoma and squamous cell carcinoma of esophagus.

Submit: New GeneRIF Correction See all GeneRIFs (77)

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

Associated conditions

Description	Tests
Bone mineral density quantitative trait locus 12 MedGen: C2675513 OMIM: 612560 GeneReviews: Not available	not available

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

D4S2612 (e-PCR)
- UniSTS:78345

G60251 (e-PCR)
- UniSTS:137358

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
enables glucuronosyltransferase activity	TAS Traceable Author Statement more info
NOT enables retinoic acid binding	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 cellular glucuronidation	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in steroid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: UDP-glucuronosyltransferase 2B17

Names: C19-steroid-specific UDP-glucuronosyltransferase; C19-steroid-specific UDPGT; UDP glucuronosyltransferase 2 family, polypeptide B17; UDP glycosyltransferase 2 family, member B17; UDP-glucuronyltransferase, family 2, beta-17

NP_001068.1

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.