B3GNT5

Summary

B3GNT5 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5, HGNC:15684) is a protein-coding gene on chromosome 3q27.1, encoding Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase (Q9BYG0). Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures.

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids.

Source: NCBI Gene 84002 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_032047

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15684
Approved symbol	B3GNT5
Name	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
Location	3q27.1
Locus type	gene with protein product
Status	Approved
Aliases	B3GN-T5, beta3Gn-T5
Ensembl gene	ENSG00000176597
Ensembl biotype	protein_coding
OMIM	615333
Entrez	84002

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 20 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000326505, ENST00000460419, ENST00000462559, ENST00000464191, ENST00000464923, ENST00000465010, ENST00000477699, ENST00000480551, ENST00000481531, ENST00000488301, ENST00000493370, ENST00000496270, ENST00000877397, ENST00000877398, ENST00000877399, ENST00000877400, ENST00000877401, ENST00000877402, ENST00000877403, ENST00000877404, ENST00000877405, ENST00000877406, ENST00000957215, ENST00000957216, ENST00000957217, ENST00000957218

RefSeq mRNA: 1 — MANE Select: NM_032047 NM_032047

CCDS: CCDS3244

Canonical transcript exons

ENST00000326505 — 2 exons

Exon	Start	End
ENSE00001230142	183253253	183253472
ENSE00001388754	183269498	183273385

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 98.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0707 / max 1066.3939, expressed in 1447 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40066	4.3497	691
40065	3.4165	889
40068	1.2046	168
40075	1.0296	611
40090	0.9625	394
40076	0.9531	511
40064	0.9501	471
40070	0.7990	159
40091	0.6297	218
40089	0.6058	230

Top tissues by expression

252 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	98.36	gold quality
bronchial epithelial cell	CL:0002328	98.29	gold quality
jejunal mucosa	UBERON:0000399	98.20	gold quality
bronchus	UBERON:0002185	97.63	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.58	gold quality
colonic mucosa	UBERON:0000317	96.16	gold quality
upper leg skin	UBERON:0004262	95.72	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.65	gold quality
oral cavity	UBERON:0000167	95.25	gold quality
cartilage tissue	UBERON:0002418	94.66	gold quality
duodenum	UBERON:0002114	94.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.16	gold quality
nasal cavity epithelium	UBERON:0005384	94.05	gold quality
epithelium of nasopharynx	UBERON:0001951	93.88	gold quality
esophagus squamous epithelium	UBERON:0006920	93.84	gold quality
epithelial cell of pancreas	CL:0000083	93.80	gold quality
gingival epithelium	UBERON:0001949	93.37	gold quality
gingiva	UBERON:0001828	93.32	gold quality
sperm	CL:0000019	93.22	gold quality
oviduct epithelium	UBERON:0004804	92.97	gold quality
nasal cavity mucosa	UBERON:0001826	91.53	gold quality
visceral pleura	UBERON:0002401	91.46	gold quality
buccal mucosa cell	CL:0002336	91.30	gold quality
pharyngeal mucosa	UBERON:0000355	91.08	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.66	gold quality
esophagus mucosa	UBERON:0002469	90.35	gold quality
rectum	UBERON:0001052	90.10	gold quality
lower lobe of lung	UBERON:0008949	89.99	gold quality
bone marrow	UBERON:0002371	89.49	gold quality
gastrocnemius	UBERON:0001388	89.36	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

180 targeting B3GNT5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-548AN	99.97	70.91	2817

Literature-anchored findings (GeneRIF, showing 3)

• Helicobacter pylori induces beta3GnT5 in human gastric cell lines, modulating expression of the SabA ligand sialyl-Lewis x (PMID:18483624)
• bone marrow samples of acute myeloid leukemia patients had 16-fold higher expression of B3GNT5 than those of healthy donors (PMID:22411838)
• B3GNT5 is a novel marker correlated with stem-like phenotype and poor clinical outcome in human gliomas. (PMID:32677340)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	b3gnt5b	ENSDARG00000004396
danio_rerio	b3gnt5a	ENSDARG00000018971
mus_musculus	B3gnt5	ENSMUSG00000022686
rattus_norvegicus	B3gnt5	ENSRNOG00000046258
drosophila_melanogaster	brn	FBGN0000221
caenorhabditis_elegans		WBGENE00000270
caenorhabditis_elegans		WBGENE00007096
caenorhabditis_elegans		WBGENE00017653

Paralogs (15): B3GNT7 (ENSG00000156966), B3GALT2 (ENSG00000162630), B3GALNT2 (ENSG00000162885), B3GALNT1 (ENSG00000169255), B3GNT2 (ENSG00000170340), B3GALT1 (ENSG00000172318), B3GALT6 (ENSG00000176022), B3GNT4 (ENSG00000176383), B3GNT8 (ENSG00000177191), B3GNT3 (ENSG00000179913), B3GALT5 (ENSG00000183778), B3GNT6 (ENSG00000198488), B3GALT9 (ENSG00000214654), B3GALT4 (ENSG00000235863), B3GNT9 (ENSG00000237172)

Protein

Protein identifiers

Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase — Q9BYG0 (reviewed: Q9BYG0)

Alternative names: Lactotriaosylceramide synthase, UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5

All UniProt accessions (4): Q9BYG0, C9IYY0, C9J368, C9J5K2

UniProt curated annotations — full annotation on UniProt →

Function. Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during embryonic development.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Widely expressed. Highly expressed in lung, colon, placenta, testis, pituitary gland and cerebellum. Weakly expressed in brain, liver, spleen, lymph node and thymus.

Induction. Up-regulated by stimulation with retinoic acid and down-regulated with 12-O-tetradecanoylphorbol-13-acetate (TPA).

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 31 family.

RefSeq proteins (1): NP_114436* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002659	Glyco_trans_31	Family

Pfam: PF01762

Enzyme classification (BRENDA):

• EC 2.4.1.206 — lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase (BRENDA: 6 organisms, 23 substrates, 1 inhibitors, 3 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
D-GALACTOSYL-1,4-BETA-D-GLUCOSYLCERAMIDE	0.021	1
D-GALACTOSYL-1,4-BETA-N-ACETYL-D-GLUCOSAMINYL-1,	0.035	1
GALBETA(1->4)GLCNACBETA1->2(GALBETA1->4GLCNACBET	0.42	1

Catalyzed reactions (Rhea), 2 shown:

• a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-N-acetyl-alpha-D-glucosamine = a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP + H(+) (RHEA:13905)
• a neolactoside nLc4Cer(d18:1(4E)) + UDP-N-acetyl-alpha-D-glucosamine = a neolactoside IV(3)-beta-GlcNAc-nLc4Cer(d18:1(4E)) + UDP + H(+) (RHEA:23004)

UniProt features (5 total): topological domain 2, chain 1, transmembrane region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYG0-F1	90.89	0.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 59

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-9840309	Glycosphingolipid biosynthesis
R-HSA-1430728	Metabolism
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-428157	Sphingolipid metabolism
R-HSA-5173105	O-linked glycosylation
R-HSA-556833	Metabolism of lipids
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 297 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_YELLOW_DN, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, MODULE_511, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, ATGTTAA_MIR302C, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, AML_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS, LIAO_METASTASIS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN

GO Biological Process (10): protein O-linked glycosylation (GO:0006493), glycosphingolipid biosynthetic process (GO:0006688), central nervous system development (GO:0007417), glycoprotein biosynthetic process (GO:0009101), glycolipid biosynthetic process (GO:0009247), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), sphingolipid biosynthetic process (GO:0030148), carbohydrate derivative biosynthetic process (GO:1901137)

GO Molecular Function (6): glycosyltransferase activity (GO:0016757), lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256), protein binding (GO:0005515), N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity (GO:0008499), transferase activity (GO:0016740), hexosyltransferase activity (GO:0016758)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
O-linked glycosylation	1
Glycosphingolipid metabolism	1
Sphingolipid metabolism	1
Metabolism of lipids	1
Post-translational protein modification	1
Metabolism	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
carbohydrate derivative biosynthetic process	2
lipid biosynthetic process	2
glycoprotein biosynthetic process	1
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
nervous system development	1
system development	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
glycolipid metabolic process	1
primary metabolic process	1
protein O-linked glycosylation	1
sphingolipid metabolic process	1
biosynthetic process	1
carbohydrate derivative metabolic process	1
transferase activity	1
acetylglucosaminyltransferase activity	1
binding	1
UDP-galactosyltransferase activity	1
beta-1,3-galactosyltransferase activity	1
catalytic activity	1
glycosyltransferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

792 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B3GNT5	A4GALT	Q9NPC4	612
B3GNT5	AMIGO2	Q86SJ2	588
B3GNT5	B4GALT5	O43286	570
B3GNT5	B4GALT4	O60513	565
B3GNT5	ST3GAL5	Q9UNP4	538
B3GNT5	B4GALT6	Q9UBX8	536
B3GNT5	MCF2L2	Q86YR7	527
B3GNT5	ST6GALNAC6	Q969X2	518
B3GNT5	B4GALT1	P15291	512
B3GNT5	SLC10A6	Q3KNW5	489
B3GNT5	CHPF	Q8IZ52	476
B3GNT5	RFNG	Q9Y644	469
B3GNT5	ST3GAL6	Q9Y274	466
B3GNT5	POFUT4	Q495W5	462
B3GNT5	LFNG	Q8NES3	461

IntAct

7 interactions, top by confidence:

A	B	Type	Score
B3GNT5	DCDC2	psi-mi:“MI:0915”(physical association)	0.560
B3GNT5	CRNN	psi-mi:“MI:0915”(physical association)	0.400
B3GNT5	CBX7	psi-mi:“MI:0915”(physical association)	0.370
SLC30A8	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
B3GNT5	DCDC2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): B3GNT5 (Two-hybrid), B3GNT5 (Affinity Capture-RNA), B3GNT5 (Affinity Capture-RNA), CRNN (Affinity Capture-MS), B3GNT5 (Positive Genetic), B3GNT5 (Affinity Capture-MS), CBX7 (Two-hybrid)

ESM2 similar proteins: A0A2C9JXL4, E9Q649, O95395, P0DN25, P97402, Q08BL3, Q0VC84, Q18515, Q24342, Q3SX46, Q499P3, Q5F3G7, Q5HZL5, Q5U258, Q5XJP0, Q5YB40, Q66GS2, Q6A1G2, Q6DE15, Q6DJR8, Q6GNL1, Q6P3P5, Q6P6V1, Q6WV16, Q6Y288, Q7K237, Q7SYI5, Q7T3S5, Q7Z1Z1, Q864U8, Q866Z5, Q8BGY6, Q8BHT6, Q8L7M1, Q8LPF8, Q8N0V5, Q8NCW6, Q96EU7, Q99NB2, Q9BYG0

Diamond homologs: A8MXE2, O43825, O54904, O54905, O75752, O88178, O96024, Q1RLK6, Q5HZL5, Q5JCS9, Q5R5Y3, Q5RAL7, Q66H69, Q6AY39, Q6DE15, Q6P3P5, Q793U7, Q7JK24, Q7JK25, Q7JK26, Q7T3S5, Q864U6, Q864U8, Q8BGY6, Q8R3I9, Q920V1, Q95US5, Q99NB2, Q9BYG0, Q9C0J1, Q9JI67, Q9MYM7, Q9N293, Q9N294, Q9N295, Q9Y2A9, Q9Y2C3, Q9Y5Z6, Q9Z0F0, Q3USF0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

48 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1275 predictions. Top by Δscore:

Variant	Effect	Δscore
3:183276866:TCTTA:T	donor_loss	1.0000
3:183276867:CTTA:C	donor_loss	1.0000
3:183276868:TTACC:T	donor_loss	1.0000
3:183276869:TACCT:T	donor_loss	1.0000
3:183276870:ACCT:A	donor_loss	1.0000
3:183296970:CATTA:C	donor_loss	1.0000
3:183296971:ATTAC:A	donor_loss	1.0000
3:183296972:TTACC:T	donor_loss	1.0000
3:183296973:TAC:T	donor_loss	1.0000
3:183296974:A:AT	donor_loss	1.0000
3:183296975:C:CA	donor_loss	1.0000
3:183276871:CCTG:C	donor_gain	0.9900
3:183276954:CACT:C	acceptor_gain	0.9900
3:183276956:CT:C	acceptor_gain	0.9900
3:183276958:C:CC	acceptor_gain	0.9900
3:183276958:C:G	acceptor_gain	0.9900
3:183276958:CT:C	acceptor_loss	0.9900
3:183276963:G:GC	acceptor_gain	0.9900
3:183295477:CCT:C	acceptor_loss	0.9900
3:183295478:C:CA	acceptor_loss	0.9900
3:183295478:C:CC	acceptor_gain	0.9900
3:183295479:T:G	acceptor_loss	0.9900
3:183295482:A:T	acceptor_gain	0.9900
3:183257441:G:GG	donor_gain	0.9800
3:183257448:A:G	donor_gain	0.9800
3:183269486:T:A	acceptor_gain	0.9800
3:183276955:ACT:A	acceptor_gain	0.9800
3:183276956:CTC:C	acceptor_gain	0.9800
3:183276957:TCT:T	acceptor_gain	0.9800
3:183297165:GACC:G	acceptor_loss	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000127211 (3:183265117 T>G), RS1000350122 (3:183255695 G>C), RS1000384316 (3:183254905 G>A), RS1000612932 (3:183254098 C>G,T), RS1000688159 (3:183254382 C>T), RS1000868337 (3:183260314 C>T), RS1001299114 (3:183260647 C>T), RS1001322536 (3:183257278 G>C,T), RS1001354613 (3:183257613 A>G), RS1001527868 (3:183263277 G>A), RS1001574529 (3:183251273 G>A), RS1001832757 (3:183263636 A>T), RS1001905846 (3:183266946 C>T), RS1001926578 (3:183268961 G>C,T), RS1002024205 (3:183258641 A>C,G)

Disease associations

OMIM: gene MIM:615333 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

54 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	6
sodium arsenite	decreases expression, increases abundance, increases expression	2
entinostat	decreases expression, affects cotreatment	2
belinostat	decreases expression, affects cotreatment	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Estradiol	decreases expression	2
Formaldehyde	increases expression	2
Asbestos, Crocidolite	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	decreases expression	1
beta-lapachone	decreases expression	1
sulforaphane	increases expression	1
potassium chromate(VI)	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
nickel sulfate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
NSC 689534	increases expression, affects binding	1
PCI 5002	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic	increases expression, increases abundance	1
Clorgyline	increases expression	1

Clinical trials (associated diseases)

75 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists