HELQ

Summary

HELQ (helicase, POLQ like, HGNC:18536) is a protein-coding gene on chromosome 4q21.23, encoding Helicase POLQ-like (Q8TDG4). Single-stranded 3’-5’ DNA helicase that plays a key role in homology-driven double-strand break (DSB) repair.

HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).

Source: NCBI Gene 113510 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ovarian failure (Moderate, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 190 total
• MANE Select transcript: NM_133636

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18536
Approved symbol	HELQ
Name	helicase, POLQ like
Location	4q21.23
Locus type	gene with protein product
Status	Approved
Aliases	Hel308
Ensembl gene	ENSG00000163312
Ensembl biotype	protein_coding
OMIM	606769
Entrez	113510

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000295488, ENST00000440639, ENST00000508591, ENST00000510985, ENST00000512539, ENST00000515482, ENST00000874005, ENST00000874006, ENST00000942363, ENST00000942364, ENST00000942365

RefSeq mRNA: 4 — MANE Select: NM_133636 NM_001297755, NM_001297756, NM_001297757, NM_133636

CCDS: CCDS3603, CCDS75158

Canonical transcript exons

ENST00000295488 — 18 exons

Exon	Start	End
ENSE00001073269	83448783	83448961
ENSE00001152025	83443517	83443614
ENSE00001152031	83446014	83446086
ENSE00001152039	83446835	83447035
ENSE00001706154	83453231	83453945
ENSE00002071805	83455397	83455823
ENSE00003509457	83421563	83421736
ENSE00003510648	83436858	83437097
ENSE00003511009	83427563	83427720
ENSE00003515225	83441305	83441403
ENSE00003519883	83407346	83407560
ENSE00003530537	83439863	83440008
ENSE00003555174	83431664	83431768
ENSE00003567585	83416731	83416865
ENSE00003581176	83429524	83429746
ENSE00003598210	83425994	83426092
ENSE00003665215	83432126	83432267
ENSE00003669883	83418093	83418206

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 90.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7394 / max 110.9669, expressed in 1783 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52929	10.5805	1781
203272	0.1590	55

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	90.00	gold quality
buccal mucosa cell	CL:0002336	89.73	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.00	gold quality
right adrenal gland cortex	UBERON:0035827	87.98	gold quality
right adrenal gland	UBERON:0001233	87.85	gold quality
left adrenal gland cortex	UBERON:0035825	87.33	gold quality
left adrenal gland	UBERON:0001234	87.25	gold quality
adrenal cortex	UBERON:0001235	86.74	gold quality
adrenal gland	UBERON:0002369	86.48	gold quality
epithelial cell of pancreas	CL:0000083	85.60	silver quality
secondary oocyte	CL:0000655	85.21	gold quality
tibia	UBERON:0000979	84.78	gold quality
adrenal tissue	UBERON:0018303	84.56	gold quality
left ovary	UBERON:0002119	84.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.29	gold quality
germinal epithelium of ovary	UBERON:0001304	83.96	gold quality
muscle of leg	UBERON:0001383	83.33	gold quality
gastrocnemius	UBERON:0001388	83.26	gold quality
right ovary	UBERON:0002118	83.24	gold quality
ovary	UBERON:0000992	82.88	gold quality
lymph node	UBERON:0000029	82.78	gold quality
granulocyte	CL:0000094	82.52	gold quality
epithelium of nasopharynx	UBERON:0001951	82.36	gold quality
skeletal muscle organ	UBERON:0014892	81.95	gold quality
leukocyte	CL:0000738	81.87	gold quality
islet of Langerhans	UBERON:0000006	81.83	gold quality
monocyte	CL:0000576	81.80	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.69	gold quality
bone marrow cell	CL:0002092	81.31	gold quality
popliteal artery	UBERON:0002250	81.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting HELQ, 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-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-568	99.98	69.86	2084
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-101-5P	96.84	65.66	649

Literature-anchored findings (GeneRIF, showing 17)

• A human DNA helicase homologous to the DNA cross-link sensitivity protein Mus308 (PMID:11751861)
• identification of homolog to POLN (PMID:12794064)
• one role for HEL308 at sites of blocked replication might be to open up the parental strands to facilitate the loading of subsequent factors required for replication restart. (PMID:21398521)
• HELQ is associated with the RAD51 paralogs RAD51B/C/D and XRCC2, and with the DNA damage-responsive kinase ATR. (PMID:24005565)
• Single nucleotide polymorphism in the HELQ gene is associated with upper aerodigestive tract cancers. (PMID:24658182)
• No mutation was identified. Our study indicates for the first time that mutations in the coding sequence of the HELQ gene may not be responsible for premature ovarian failure in Chinese Han population. (PMID:26190809)
• Our results indicate that HELQ is not a major breast and ovarian cancer susceptibility gene in the Finnish population (PMID:26351136)
• HELQ regulates the CHK1-RAD51 signaling pathway in osteosarcoma cells. (PMID:28000895)
• WHD domain may contribute to ssDNA translocation, resulting in DNA helicase activity or in removal of other DNA bound proteins by “reeling” ssDNA. (PMID:28738244)
• HELQ plays an important role in regulating the expression of DNA repair proteins NER pathway which, in turn, contributes to cellular response to cisplatin and patients’ response to platinum-based chemotherapy. (PMID:29572031)
• HELQ and EGR3 expression correlate with IGHV mutation status and prognosis in chronic lymphocytic leukemia. (PMID:33485349)
• Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome. (PMID:34672775)
• Interaction of human HelQ with DNA polymerase delta halts DNA synthesis and stimulates DNA single-strand annealing. (PMID:36718939)
• Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ. (PMID:37777152)
• Human HELQ regulates DNA end resection at DNA double-strand breaks and stalled replication forks. (PMID:37897354)
• A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. (PMID:38540391)
• HELQ deficiency impairs the induction of primordial germ cell-like cells. (PMID:38720471)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	helq	ENSDARG00000079818
mus_musculus	Helq	ENSMUSG00000035266
rattus_norvegicus	Helq	ENSRNOG00000002181
drosophila_melanogaster	mus301	FBGN0002899
caenorhabditis_elegans		WBGENE00021905

Paralogs (8): MTREX (ENSG00000039123), POLQ (ENSG00000051341), ASCC3 (ENSG00000112249), DDX60 (ENSG00000137628), SNRNP200 (ENSG00000144028), HFM1 (ENSG00000162669), DDX60L (ENSG00000181381), SKIC2 (ENSG00000204351)

Protein

Protein identifiers

Helicase POLQ-like — Q8TDG4 (reviewed: Q8TDG4)

Alternative names: Mus308-like helicase, POLQ-like helicase

All UniProt accessions (3): Q8TDG4, E3W980, E3W982

UniProt curated annotations — full annotation on UniProt →

Function. Single-stranded 3’-5’ DNA helicase that plays a key role in homology-driven double-strand break (DSB) repair. Involved in different DSB repair mechanisms that are guided by annealing of extensive stretches of complementary bases at break ends, such as microhomology-mediated end-joining (MMEJ), single-strand annealing (SSA) or synthesis-dependent strand annealing (SDSA). Possesses both DNA unwinding and annealing activities. Forms a complex with RAD51, stimulating HELQ DNA helicase activity and ability to unwing DNA. Efficiently unwinds substrates containing 3’ overhangs or a D-loop. In contrast, interaction with the replication protein A (RPA/RP-A) complex inhibits DNA unwinding by HELQ but strongly stimulates DNA strand annealing. Triggers displacement of RPA from single-stranded DNA to facilitate annealing of complementary sequences.

Subunit / interactions. Homodimer. Interacts with POLN. Interacts with RAD51B and RAD51C; promoting association with the BCDX2 complex. Interacts with the replication protein A (RPA/RP-A) complex. Interacts with RAD51; stimulating HELQ DNA helicase activity and ability to unwing DNA.

Subcellular location. Nucleus. Chromosome.

Activity regulation. ATPase activity is strongly stimulated by single-stranded DNA. Presence of ATP and Mg cofactor are required for helicase activity allowing to unwind duplex oligonucleotides up to 60-70-mer. This helicase activity is stimulated by replication protein A (RPA/RP-A) complex that binds to unwound regions and inhibits re-annealing.

Similarity. Belongs to the helicase family. SKI2 subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8TDG4-1	1	yes
Q8TDG4-2	2
Q8TDG4-4	3
Q8TDG4-5	4

RefSeq proteins (4): NP_001284684, NP_001284685, NP_001284686, NP_598375* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR046931	HTH_61	Domain
IPR048960	POLQ-like_helical	Domain
IPR050474	Hel308_SKI2-like	Family

Pfam: PF00270, PF00271, PF20470, PF21099

Enzyme classification (BRENDA):

• EC 3.6.4.12 — DNA helicase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (23 total): splice variant 6, sequence variant 5, mutagenesis site 3, domain 2, compositionally biased region 2, chain 1, sequence conflict 1, region of interest 1, short sequence motif 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TDG4-F1	74.30	0.52

Functional residue map

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

Ligand- & substrate-binding residues (1): 359–366

Mutagenesis-validated functional residues (3):

Position	Phenotype
365	abolishes atpase and dna helicase activity.
463	abolished atpase and dna helicase activity.
818–819	abolished double-stranded dna-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 137 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_DNA_RECOMBINATION, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_REGULATION_OF_DNA_REPAIR, MODULE_331, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_DNA_REPAIR, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, GOBP_POSITIVE_REGULATION_OF_DNA_RECOMBINATION, GOBP_RECOMBINATIONAL_REPAIR, GOBP_DNA_DOUBLE_STRAND_BREAK_PROCESSING, chr4q21, MARSON_BOUND_BY_E2F4_UNSTIMULATED

GO Biological Process (7): double-strand break repair via homologous recombination (GO:0000724), DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792), double-strand break repair via synthesis-dependent strand annealing (GO:0045003), double-strand break repair via alternative nonhomologous end joining (GO:0097681), positive regulation of double-strand break repair via homologous recombination (GO:1905168), DNA repair (GO:0006281), DNA damage response (GO:0006974)

GO Molecular Function (10): DNA binding (GO:0003677), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), single-stranded 3’-5’ DNA helicase activity (GO:1990518), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787), isomerase activity (GO:0016853)

GO Cellular Component (3): nucleus (GO:0005634), site of DNA damage (GO:0090734), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
double-strand break repair via homologous recombination	2
ATP-dependent activity	2
binding	2
catalytic activity	2
recombinational repair	1
double-strand break repair	1
DNA double-strand break processing	1
double-strand break repair via single-strand annealing	1
double-strand break repair via nonhomologous end joining	1
regulation of double-strand break repair via homologous recombination	1
positive regulation of DNA recombination	1
positive regulation of double-strand break repair	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
nucleic acid binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
single-stranded DNA helicase activity	1
3’-5’ DNA helicase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
intracellular membrane-bounded organelle	1
chromosome	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1844 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HELQ	POLN	Q7Z5Q5	989
HELQ	POLA1	P09884	917
HELQ	RAD51	Q06609	657
HELQ	RAD51C	O43502	596
HELQ	SRSF1	Q07955	595
HELQ	MCM8	Q9UJA3	568
HELQ	FANCM	Q8IYD8	557
HELQ	EXO1	Q9UQ84	551
HELQ	ABRAXAS1	Q6UWZ7	544
HELQ	A0A494C100	A0A494C100	543
HELQ	MCM9	Q9NXL9	541
HELQ	TLK1	Q9UKI8	538
HELQ	DHX15	O43143	533
HELQ	HAUS3	Q68CZ6	532
HELQ	WRN	Q14191	521

IntAct

10 interactions, top by confidence:

A	B	Type	Score
HELQ	RAD51C	psi-mi:“MI:0915”(physical association)	0.500
HELQ	RAD51B	psi-mi:“MI:0914”(association)	0.350
HELQ	H4C16	psi-mi:“MI:0914”(association)	0.350
fbaB	HELQ	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (25): ATR (Affinity Capture-MS), RPA1 (Affinity Capture-MS), RAD51B (Affinity Capture-MS), RAD51C (Affinity Capture-MS), RAD51D (Affinity Capture-MS), XRCC2 (Affinity Capture-MS), FANCD2 (Affinity Capture-MS), FANCI (Affinity Capture-MS), ATR (Affinity Capture-Western), RPA1 (Affinity Capture-Western), RAD51B (Affinity Capture-Western), RAD51C (Affinity Capture-Western), FANCD2 (Affinity Capture-Western), HELQ (Affinity Capture-Western), HELQ (Reconstituted Complex)

ESM2 similar proteins: A0A1D5PRR9, A4IHD2, A4PBL4, B4F769, D4ACP5, F4HQE2, I3XHK1, O09053, O12944, O75417, O94762, P0DOY1, P56960, P70270, Q08D35, Q0PCS3, Q1LWH4, Q2VPA6, Q3B7N1, Q3UWM4, Q5NC05, Q5QJC2, Q5RDL2, Q5RHD1, Q5SXJ3, Q5ZJF6, Q6NU40, Q6NZP1, Q6NZQ2, Q6PFE3, Q6ZMT4, Q80Y44, Q8BGE5, Q8CGS6, Q8GT06, Q8IYD8, Q8TDG4, Q8VID5, Q92698, Q99NG0

Diamond homologs: A2PYH4, A7IB61, B6DMK2, B9DFG3, D3Z4R1, E1BNG3, E9PZJ8, F1LNJ2, F1LPQ2, F1NTD6, F4JAA5, H2KY86, O13799, O14232, O48534, O59801, O60072, O75417, O75643, P32639, P35207, P42285, P47047, P9WMR0, P9WMR1, Q09475, Q15477, Q23223, Q2VPA6, Q54G57, Q55CI8, Q58796, Q588V7, Q5H9U9, Q6NZR5, Q6P4T2, Q8CGS6, Q8IY21, Q8N3C0, Q8TDG4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	127
Likely benign	21
Benign	17

Top pathogenic / likely-pathogenic (0)

SpliceAI

3633 predictions. Top by Δscore:

Variant	Effect	Δscore
4:83416725:GCTTA:G	donor_loss	1.0000
4:83416726:CTTA:C	donor_loss	1.0000
4:83416727:TTA:T	donor_loss	1.0000
4:83416728:TA:T	donor_loss	1.0000
4:83416729:ACCT:A	donor_loss	1.0000
4:83416730:C:A	donor_loss	1.0000
4:83425988:TGGTA:T	donor_loss	1.0000
4:83425989:GGTAC:G	donor_loss	1.0000
4:83425990:GTA:G	donor_loss	1.0000
4:83425991:TA:T	donor_loss	1.0000
4:83425992:ACC:A	donor_loss	1.0000
4:83425993:C:CT	donor_loss	1.0000
4:83426088:CTAAA:C	acceptor_gain	1.0000
4:83426093:C:CC	acceptor_gain	1.0000
4:83429522:AC:A	donor_gain	1.0000
4:83429523:CC:C	donor_gain	1.0000
4:83431701:C:A	donor_gain	1.0000
4:83432121:ATTAC:A	donor_loss	1.0000
4:83432122:TTACC:T	donor_loss	1.0000
4:83432123:TAC:T	donor_loss	1.0000
4:83432124:A:AT	donor_loss	1.0000
4:83432125:C:CA	donor_loss	1.0000
4:83432266:CT:C	acceptor_gain	1.0000
4:83436846:CTTAT:C	donor_gain	1.0000
4:83436857:C:G	donor_loss	1.0000
4:83439861:A:AC	donor_gain	1.0000
4:83439862:C:CC	donor_gain	1.0000
4:83439862:CTTG:C	donor_gain	1.0000
4:83440009:C:CC	acceptor_gain	1.0000
4:83443515:A:AC	donor_gain	1.0000

AlphaMissense

7237 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:83436899:G:C	C669W	1.000
4:83448959:A:G	W339R	1.000
4:83448959:A:T	W339R	1.000
4:83432159:A:C	S719R	0.999
4:83432159:A:T	S719R	0.999
4:83432161:T:G	S719R	0.999
4:83432187:C:G	R710P	0.999
4:83432188:G:T	R710S	0.999
4:83432190:C:T	G709D	0.999
4:83432193:G:T	A708D	0.999
4:83432195:T:A	R707S	0.999
4:83432195:T:G	R707S	0.999
4:83432196:C:G	R707T	0.999
4:83436864:G:T	A681D	0.999
4:83436870:A:G	L679P	0.999
4:83436900:C:T	C669Y	0.999
4:83439901:A:C	C590W	0.999
4:83439922:A:C	F583L	0.999
4:83439922:A:T	F583L	0.999
4:83439924:A:G	F583L	0.999
4:83443589:A:C	S497R	0.999
4:83443589:A:T	S497R	0.999
4:83443591:T:G	S497R	0.999
4:83448880:T:A	K365I	0.999
4:83448957:C:A	W339C	0.999
4:83448957:C:G	W339C	0.999
4:83432194:C:G	A708P	0.998
4:83432197:T:C	R707G	0.998
4:83432199:C:T	G706D	0.998
4:83432205:A:G	M704T	0.998

dbSNP variants (sampled 300 via entrez): RS1000076451 (4:83451260 T>C), RS10001425 (4:83420343 G>A), RS1000174070 (4:83433321 A>G), RS1000205211 (4:83433008 C>T), RS1000268157 (4:83443377 T>C), RS1000302713 (4:83429703 G>A,T), RS1000413029 (4:83426726 A>G,T), RS1000457958 (4:83410665 A>T), RS1000481699 (4:83423693 C>T), RS1000531353 (4:83436336 A>T), RS1000544509 (4:83413951 A>G), RS1000569639 (4:83453205 T>G), RS1000592126 (4:83426469 A>G), RS1000694379 (4:83447971 G>A,T), RS1000805456 (4:83426966 A>G)

Disease associations

OMIM: gene MIM:606769 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ovarian failure	Moderate	Autosomal dominant

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001011_5	Oral cavity and pharyngeal cancer	1.000000e-08
GCST001381_13	Menopause (age at onset)	2.000000e-19
GCST004988_639	Breast cancer	2.000000e-09
GCST005312_10	Menopause (age at onset)	9.000000e-23
GCST005863_36	Menopause (age at onset)	4.000000e-08
GCST009442_6	Age-related cognitive decline (executive function) (slope of z-scores)	4.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004704	age at menopause
EFO:0007710	cognitive decline measurement

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, decreases methylation	5
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
sodium arsenite	increases expression	1
ferrous chloride	decreases expression	1
coumarin	decreases phosphorylation	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	increases expression	1
Benzo(a)pyrene	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Theophylline	affects cotreatment, decreases expression	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B8HC	Abcam HCT 116 HELQ KO	Cancer cell line	Male
CVCL_B8WQ	Abcam MCF-7 HELQ KO	Cancer cell line	Female
CVCL_B9JL	Abcam A-549 HELQ KO	Cancer cell line	Male
CVCL_E1Z0	HAP1 HELQ (-) 1	Cancer cell line	Male
CVCL_E1Z1	HAP1 HELQ (-) 2	Cancer cell line	Male

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