Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7364
Gene name	UDP glucuronosyltransferase family 2 member B7
Gene symbol	UGT2B7
Synonyms (NCBI Gene)	UDPGT 2B7UDPGT 2B9UDPGT2B7UDPGTH2UDPGTh-2UGT2B9
Chromosome	4
Chromosome location	4q13.2
Summary	The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microso

129

Show/Hide all (129)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4292394	C>G	Drug-response	Coding sequence variant, synonymous variant
rs4337789	A>C,T	Drug-response	Intron variant
rs4348159	C>A,T	Benign, drug-response	Coding sequence variant, synonymous variant, stop gained
rs6851533	T>A,C	Drug-response	Downstream transcript variant
rs7438244	A>C,G,T	Drug-response	Intron variant
rs7439326	T>C	Drug-response	Intron variant
rs7439366	T>C	Drug-response	Missense variant, coding sequence variant
rs7668258	T>A,C,G	Drug-response	Intron variant, upstream transcript variant, genic upstream transcript variant
rs12233719	G>A,C,T	Drug-response	Missense variant, coding sequence variant, intron variant
rs12647681	A>C,T	Drug-response	Intron variant
rs12647682	A>C,G,T	Drug-response	Intron variant
rs12648462	T>C	Drug-response	Intron variant
rs28365062	A>G,T	Drug-response	5 prime UTR variant, coding sequence variant, synonymous variant
rs28365063	A>G,T	Drug-response	Missense variant, coding sequence variant, intron variant, synonymous variant
rs34661811	C>A	Drug-response	Synonymous variant, coding sequence variant
rs57913007	C>G,T	Drug-response	Intron variant, synonymous variant, coding sequence variant
rs60529914	A>G	Drug-response	Intron variant
rs61361928	T>C	Likely-benign, drug-response	Intron variant, missense variant, coding sequence variant
rs73823859	G>A	Drug-response	Intron variant, upstream transcript variant, genic upstream transcript variant
rs73823860	C>T	Drug-response	Intron variant
rs147120761	C>A,T	Drug-response	Synonymous variant, missense variant, intron variant, coding sequence variant
rs373107309	T>A,C	Drug-response	Intron variant
rs373954369	G>A	Drug-response	Coding sequence variant, intron variant, missense variant
rs563256432	C>A,T	Drug-response	Intron variant, missense variant, coding sequence variant
rs745638449	T>C	Drug-response	Coding sequence variant, synonymous variant, intron variant
rs747704916	C>A,T	Drug-response	Missense variant, intron variant, coding sequence variant
rs749400319	C>A,T	Drug-response	Missense variant, coding sequence variant
rs749742372	C>A,T	Drug-response	Missense variant, intron variant, coding sequence variant, stop gained
rs750282415	T>A,C	Drug-response	Missense variant, synonymous variant, intron variant, coding sequence variant
rs756286593	C>A	Drug-response	Genic upstream transcript variant, intron variant, upstream transcript variant
rs758574713	C>A,G	Drug-response	Intron variant
rs762365097	C>A,T	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs767454107	T>C	Drug-response	Coding sequence variant, synonymous variant, intron variant
rs768744149	A>C,G	Drug-response	Intron variant
rs769286636	A>C,G	Drug-response	Coding sequence variant, synonymous variant
rs769560693	G>A,C	Drug-response	Coding sequence variant, intron variant, missense variant
rs770251825	C>A,T	Drug-response	Coding sequence variant, intron variant, missense variant
rs772560918	G>A,C	Drug-response	Coding sequence variant, intron variant, missense variant
rs774185288	G>C,T	Drug-response	Coding sequence variant, synonymous variant, 3 prime UTR variant
rs774459890	G>A,T	Drug-response	Intron variant
rs776991562	G>A	Drug-response	Coding sequence variant, intron variant, missense variant
rs777092380	C>G,T	Drug-response	Coding sequence variant, intron variant, missense variant
rs778509979	G>A,C	Drug-response	Synonymous variant, coding sequence variant, missense variant
rs960076700	G>A	Drug-response	Intron variant, missense variant, coding sequence variant
rs1048277645	G>A	Drug-response	Intron variant
rs1157290351	C>T	Drug-response	Coding sequence variant, stop gained, intron variant
rs1198796766	C>T	Drug-response	Intron variant
rs1255338508	G>A,T	Drug-response	Intron variant, coding sequence variant, missense variant
rs1259514034	A>T	Drug-response	Intron variant
rs1272501790	A>T	Drug-response	Intron variant
rs1291339023	A>G,T	Drug-response	Intron variant
rs1300063360	C>T	Drug-response	Intron variant
rs1314742807	G>A	Drug-response	Intron variant
rs1327715763	A>G,T	Drug-response	Missense variant, stop gained, coding sequence variant
rs1344464876	G>A,C	Drug-response	Intron variant
rs1369776133	A>-	Drug-response	Frameshift variant, coding sequence variant, intron variant
rs1386213886	T>C,G	Drug-response	Intron variant
rs1395641165	G>A,T	Drug-response	Intron variant
rs1403703291	C>T	Drug-response	Intron variant, coding sequence variant, missense variant
rs1412192907	C>A,T	Drug-response	Intron variant, coding sequence variant, missense variant, synonymous variant
rs1423616754	C>A,T	Drug-response	Intron variant
rs1424717351	C>T	Drug-response	Coding sequence variant, synonymous variant, intron variant
rs1436844953	G>A,T	Drug-response	Missense variant, coding sequence variant, 3 prime UTR variant
rs1458035928	G>A	Drug-response	Intron variant, synonymous variant, coding sequence variant
rs1479676448	G>T	Drug-response	Coding sequence variant, missense variant
rs1577920581	T>A	Drug-response	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1577920582	T>A	Drug-response	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1577920587	C>T	Drug-response	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1577920640	T>-	Drug-response	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1577920642	G>T	Drug-response	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1577920696	C>T	Drug-response	5 prime UTR variant, intron variant
rs1577920737	G>A	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577920742	G>-	Drug-response	Intron variant, frameshift variant, coding sequence variant
rs1577920799	T>G	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577920813	T>C	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577920819	G>A	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577920928	C>-	Drug-response	Intron variant, frameshift variant, coding sequence variant
rs1577920993	A>T	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577921077	G>C	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577921091	A>-	Drug-response	Intron variant, frameshift variant, coding sequence variant
rs1577921116	TA>-	Drug-response	Stop gained, intron variant, inframe indel, coding sequence variant
rs1577921125	T>G	Drug-response	Intron variant, synonymous variant, coding sequence variant
rs1577921167	A>-	Drug-response	Intron variant, frameshift variant, coding sequence variant
rs1577921281	C>T	Drug-response	Intron variant, synonymous variant, coding sequence variant
rs1577921336	C>-	Drug-response	Stop gained, intron variant, coding sequence variant
rs1577921353	A>C	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577921432	A>G	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577921469	G>T	Drug-response	Intron variant, synonymous variant, coding sequence variant
rs1577921483	C>A	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577921622	G>-	Drug-response	Intron variant
rs1577921626	A>-	Drug-response	Intron variant
rs1577921638	T>-	Drug-response	Intron variant
rs1577921669	T>C	Drug-response	Intron variant
rs1577921738	C>A	Drug-response	Intron variant
rs1577921765	A>C	Drug-response	Intron variant
rs1577922078	G>T	Drug-response	Intron variant
rs1577922194	A>C	Drug-response	Intron variant
rs1577924333	T>G	Drug-response	Intron variant
rs1577924336	G>A	Drug-response	Intron variant
rs1577924539	G>T	Drug-response	Coding sequence variant, missense variant
rs1577924566	A>-	Drug-response	Intron variant
rs1577924575	G>A	Drug-response	Intron variant
rs1577924605	A>-	Drug-response	Intron variant
rs1577924620	A>G	Drug-response	Intron variant
rs1577924627	G>A	Drug-response	Intron variant
rs1577924631	G>A	Drug-response	Intron variant
rs1577924635	C>A	Drug-response	Intron variant
rs1577924652	A>-	Drug-response	Intron variant
rs1577924674	T>-	Drug-response	Intron variant
rs1577926868	T>C	Drug-response	Intron variant
rs1577926872	A>T	Drug-response	Intron variant
rs1577926905	T>C	Drug-response	Intron variant
rs1577926907	T>C	Drug-response	Intron variant
rs1577927619	T>C	Drug-response	Intron variant
rs1577927627	C>T	Drug-response	Intron variant
rs1577927645	C>T	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577927789	C>T	Drug-response	Stop gained, intron variant, coding sequence variant
rs1577927792	A>T	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577927873	G>A	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577927899	C>A	Drug-response	Intron variant, coding sequence variant, missense variant
rs1577927913	G>A	Drug-response	Intron variant
rs1577929997	T>C	Drug-response	Intron variant
rs1577930172	G>A	Drug-response	3 prime UTR variant, coding sequence variant, missense variant
rs1577930188	C>G	Drug-response	3 prime UTR variant, coding sequence variant, missense variant
rs1577930208	G>A	Drug-response	3 prime UTR variant, stop gained, coding sequence variant
rs1577930218	T>C	Drug-response	3 prime UTR variant, synonymous variant, coding sequence variant
rs1577930327	T>C	Drug-response	3 prime UTR variant
rs1577930454	G>A	Drug-response	3 prime UTR variant
rs1577930519	T>A	Drug-response	Downstream transcript variant

Show/Hide all (34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT735966	hsa-miR-485-5p	Luciferase reporter assayqRT-PCR	31554697
MIRT1473662	hsa-miR-1266	CLIP-seq
MIRT1473663	hsa-miR-129-5p	CLIP-seq
MIRT1473664	hsa-miR-216b	CLIP-seq
MIRT1473665	hsa-miR-3664-3p	CLIP-seq
MIRT1473666	hsa-miR-3921	CLIP-seq
MIRT1473667	hsa-miR-3973	CLIP-seq
MIRT1473668	hsa-miR-4518	CLIP-seq
MIRT1473669	hsa-miR-4653-5p	CLIP-seq
MIRT1473670	hsa-miR-4766-5p	CLIP-seq
MIRT1473671	hsa-miR-513a-3p	CLIP-seq
MIRT1473672	hsa-miR-514	CLIP-seq
MIRT1473673	hsa-miR-514b-3p	CLIP-seq
MIRT1473674	hsa-miR-548a-5p	CLIP-seq
MIRT1473675	hsa-miR-548ab	CLIP-seq
MIRT1473676	hsa-miR-548ak	CLIP-seq
MIRT1473677	hsa-miR-548b-5p	CLIP-seq
MIRT1473678	hsa-miR-548c-5p	CLIP-seq
MIRT1473679	hsa-miR-548d-5p	CLIP-seq
MIRT1473680	hsa-miR-548h	CLIP-seq
MIRT1473681	hsa-miR-548i	CLIP-seq
MIRT1473682	hsa-miR-548j	CLIP-seq
MIRT1473683	hsa-miR-548w	CLIP-seq
MIRT1473684	hsa-miR-548y	CLIP-seq
MIRT1473685	hsa-miR-559	CLIP-seq
MIRT1473686	hsa-miR-873	CLIP-seq
MIRT2142609	hsa-miR-1287	CLIP-seq
MIRT2142610	hsa-miR-3135b	CLIP-seq
MIRT2142611	hsa-miR-548g	CLIP-seq
MIRT2142612	hsa-miR-578	CLIP-seq
MIRT2142609	hsa-miR-1287	CLIP-seq
MIRT2142610	hsa-miR-3135b	CLIP-seq
MIRT2142611	hsa-miR-548g	CLIP-seq
MIRT2142612	hsa-miR-578	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
HNF1A	Activation	10779377
HNF4A	Unknown	21415305
NFE2L2	Activation	18622263
POU2F1	Activation	10779377

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001972	Function	Retinoic acid binding	IDA	20308471
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	2159463
GO:0006805	Process	Xenobiotic metabolic process	IDA	20056724
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008209	Process	Androgen metabolic process	IDA	17442341
GO:0008210	Process	Estrogen metabolic process	IBA
GO:0008210	Process	Estrogen metabolic process	IDA	18719240
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0015020	Function	Glucuronosyltransferase activity	IDA	15231852, 17442341, 18052087, 18719240, 20056724, 21422672, 22579593, 38211441
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0015020	Function	Glucuronosyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	2159463
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
600068	12554	ENSG00000171234

P16662

Protein name

UDP-glucuronosyltransferase 2B7 (UDPGT 2B7) (UGT2B7) (EC 2.4.1.17) (3,4-catechol estrogen-specific UDPGT) (UDP-glucuronosyltransferase 2B9) (UDPGT 2B9) (UDPGTh-2)

Protein function

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 th

PDB

2O6L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00201	UDPGT	24 → 526	UDP-glucoronosyl and UDP-glucosyl transferase	Family

Sequence

MSVKWTSVILLIQLSFCFSSGNCGKVLVWAAEYSHWMNIKTILDELIQRGHEVTVLASSA
SILFDPNNSSALKIEIYPTSLTKTELENFIMQQIKRWSDLPKDTFWLYFSQVQEIMSIFG
DITRKFCKDVVSNKKFMKKVQESRFDVIFADAIFPCSELLAELFNIPFVYSLSFSPGYTF
EKHSGGFIFPPSYVPVVMSELTDQMTFMERVKNMIYVLYFDFWFEIFDMKKWDQFYSEVL
GRPTTLSETMGKADVWLIRNSWNFQFPYPLLPNVDFVGGLHCKPAKPLPKEMEDFVQSSG
ENGVVVFSLGSMVSNMTEERANVIASALAQIPQKVLWRFDGNKPDTLGLNTRLYKWIPQN
DLLGHPKTRAFITHGGANGIYEAIYHGIPMVGIPLFADQPDNIAHMKARGAAVRVDFNTM
SSTDLLNALKRVINDPSYKENVMKLSRIQHDQPVKPLDRAVFWIEFVMRHKGAKHLRVAA
HDLTWFQYHSLDVIGFLLVCVATVIFIVTKCCLFCFWKFARKAKKGKND

Sequence length

529

Interactions

View interactions

	KEGG		Reactome
	Pentose and glucuronate interconversions Ascorbate and aldarate metabolism Steroid hormone biosynthesis Retinol metabolism Porphyrin metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 Drug metabolism - other enzymes Metabolic pathways Biosynthesis of cofactors Bile secretion Chemical carcinogenesis - DNA adducts Chemical carcinogenesis - receptor activation		Glucuronidation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tramadol response	Benign; Likely benign; drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	24047243	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Associate	24681964	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Associate	17724700, 22430884, 37248824	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	11943730, 18374377	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	21658222, 21750172, 22395643, 30554488, 31888550	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	25288013, 26010150, 37089050	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	33595913	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	36517591, 36571650	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiotoxicity	Associate	30554488	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Inhibit	25798860	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	28418861	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Associate	30554488	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	21123165	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	19352303	★★★★★ ★☆☆☆☆ Found in Text Mining only
Environmental Illness	Associate	10024527	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	28837897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis	Associate	34428046	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	17978490, 30554488	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Associate	29695616	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Infections	Associate	19779319, 22462748	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Noncirrhotic Portal Hypertension	Associate	29695616	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Associate	25650382	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Associate	28869324	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Associate	29695616	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Associate	28934901	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	33595913	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	23110092	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Inhibit	11943730	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	11943730, 25288013, 25650382	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	23110092	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	26010150, 28418861, 33595913, 34428046, 36571650	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non alcoholic Fatty Liver Disease	Associate	34428046, 37089050	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pain	Associate	28418861, 37248824	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Associate	32176075	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Associate	29679912	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberculosis	Associate	19628728	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	22961351	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

UGT2B7 (UDP glucuronosyltransferase family 2 member B7)