ASB7

Summary

ASB7 (ankyrin repeat and SOCS box containing 7, HGNC:17182) is a protein-coding gene on chromosome 15q26.3, encoding Ankyrin repeat and SOCS box protein 7 (Q9H672). Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as LZTS1, PSRC1 and SUV39H1.

The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described.

Source: NCBI Gene 140460 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_198243

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17182
Approved symbol	ASB7
Name	ankyrin repeat and SOCS box containing 7
Location	15q26.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183475
Ensembl biotype	protein_coding
OMIM	615052
Entrez	140460

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

ENST00000332783, ENST00000343276, ENST00000558747, ENST00000561192, ENST00000899523, ENST00000899524, ENST00000899525, ENST00000929736

RefSeq mRNA: 2 — MANE Select: NM_198243 NM_024708, NM_198243

CCDS: CCDS10387, CCDS10388

Canonical transcript exons

ENST00000332783 — 6 exons

Exon	Start	End
ENSE00001300879	100609707	100609828
ENSE00001324819	100603215	100603313
ENSE00001368215	100612166	100612427
ENSE00001376832	100629437	100630042
ENSE00001380972	100648323	100651701
ENSE00001414915	100602589	100603046

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 85.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.0404 / max 40.3156, expressed in 1723 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148913	3.3025	1609
148914	1.7379	1160

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	85.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.74	gold quality
palpebral conjunctiva	UBERON:0001812	81.86	gold quality
monocyte	CL:0000576	79.54	gold quality
leukocyte	CL:0000738	79.49	gold quality
mononuclear cell	CL:0000842	79.26	gold quality
stromal cell of endometrium	CL:0002255	79.11	gold quality
ventricular zone	UBERON:0003053	78.67	gold quality
blood	UBERON:0000178	78.38	gold quality
granulocyte	CL:0000094	78.27	gold quality
pigmented layer of retina	UBERON:0001782	78.24	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.12	gold quality
amniotic fluid	UBERON:0000173	78.09	silver quality
cortical plate	UBERON:0005343	78.07	gold quality
parietal pleura	UBERON:0002400	78.01	gold quality
calcaneal tendon	UBERON:0003701	77.93	gold quality
middle temporal gyrus	UBERON:0002771	77.91	gold quality
rectum	UBERON:0001052	77.53	gold quality
colonic mucosa	UBERON:0000317	77.35	gold quality
visceral pleura	UBERON:0002401	77.33	gold quality
islet of Langerhans	UBERON:0000006	77.28	gold quality
Brodmann (1909) area 23	UBERON:0013554	77.06	gold quality
pleura	UBERON:0000977	76.97	gold quality
mucosa of transverse colon	UBERON:0004991	76.95	gold quality
ganglionic eminence	UBERON:0004023	76.94	gold quality
corpus epididymis	UBERON:0004359	76.64	gold quality
endometrium	UBERON:0001295	76.63	gold quality
bone marrow	UBERON:0002371	76.56	gold quality
primary visual cortex	UBERON:0002436	75.84	gold quality
transverse colon	UBERON:0001157	75.64	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting ASB7, 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-548AW	99.99	72.57	3559
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-140-5P	99.44	67.20	792
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-4684-3P	98.24	69.91	1075
HSA-MIR-495-5P	97.62	68.28	682
HSA-MIR-4268	94.45	64.09	819

Literature-anchored findings (GeneRIF, showing 2)

• these data indicate that ASB7 plays a crucial role in regulating spindle dynamics and genome integrity by controlling the expression of DDA3. (PMID:27697924)
• High ASB7 expression is associated with endoplasmic reticulum stress. (PMID:29630609)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	asb7	ENSDARG00000006494
mus_musculus	Asb7	ENSMUSG00000030509
rattus_norvegicus	Asb7	ENSRNOG00000013795

Paralogs (3): ANK1 (ENSG00000029534), ANK2 (ENSG00000145362), ANK3 (ENSG00000151150)

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 7 — Q9H672 (reviewed: Q9H672)

All UniProt accessions (2): H0YMJ1, Q9H672

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as LZTS1, PSRC1 and SUV39H1. The ECS(ASB7) complex acts as a negative regulator of H3K9me3 histone mark by mediating ubiquitination and degradation of SUV39H1: ASB7 is recruited to heterochromatin by CBX5 (HP1 alpha), where it associates with SUV39H1, promoting the ubiquitin-proteasome-mediated degradation of SUV39H1. During mitosis, ASB7 is phosphorylated and inactivated, allowing SUV39H1 activity. The ECS(ASB7) complex also plays a role in spindle dynamics and genome integrity by targeting the mitotic progression protein PSRC1 for proteasomal degradation in a cell cycle-dependent manner. Also participates in meiosis by mediating the proper attachment between kinetochores and microtubules.

Subunit / interactions. Substrate-recognition component of the ECS(ASB7) complex, composed of ASB7, CUL5, ELOB, ELOC and RNF7/RBX2. Interacts (via PxVxL motif 1) with CBX5 (HP1 alpha); leading to its recruitment to heterochromatin.

Subcellular location. Chromosome. Nucleus.

Post-translational modifications. Phosphorylated by CDK1 during mitosis, preventing its association with SUV39H1 substrate.

Domain organisation. The PxVxL motif 1 mediates interaction with CBX5 (HP1 alpha). The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ankyrin SOCS box (ASB) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H672-1	1	yes
Q9H672-2	2

RefSeq proteins (2): NP_078984, NP_937886* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001496	SOCS_box	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR036036	SOCS_box-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR037326	ASB7_SOCS	Domain

Pfam: PF07525, PF12796

UniProt features (62 total): mutagenesis site 20, helix 19, repeat 8, short sequence motif 3, modified residue 3, turn 3, splice variant 2, chain 1, sequence conflict 1, strand 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8Y1U	X-RAY DIFFRACTION	2.41

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H672-F1	92.09	0.80

Functional residue map

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

Post-translational modifications (3): 119, 152, 216

Mutagenesis-validated functional residues (20):

Position	Phenotype
65–67	abolished interaction with cbx5, preventing recruitment to heterochromatin.
82	strongly decreased affinity for lzts1 substrate.
87	does not affect affinity for lzts1 substrate.
116	decreased affinity for lzts1 substrate.
118	strongly decreased affinity for lzts1 substrate.
119	abolished phosphorylation by cdk1; when associated with a-152 and a-216.
119	mimics phosphorylation; strongly decreased ability to promote suv39h1 ubiquitination; when associated with a-152 and a-2
126	does not affect affinity for lzts1 substrate.
127	does not affect affinity for lzts1 substrate.
147	strongly decreased affinity for lzts1 substrate.
151	strongly decreased affinity for lzts1 substrate.
152	abolished phosphorylation by cdk1; when associated with a-119 and a-216.
152	mimics phosphorylation; strongly decreased ability to promote suv39h1 ubiquitination; when associated with a-119 and a-2
160	decreased affinity for lzts1 substrate.
182	decreased affinity for lzts1 substrate.
185	decreased affinity for lzts1 substrate.
186	does not affect affinity for lzts1 substrate.
189	does not affect affinity for lzts1 substrate.
216	abolished phosphorylation by cdk1; when associated with a-119 and a-152.
216	mimics phosphorylation; strongly decreased ability to promote suv39h1 ubiquitination; when associated with a-119 and a-1

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 211 (showing top): GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_ATTACHMENT_OF_SPINDLE_MICROTUBULES_TO_KINETOCHORE, PAX4_01, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, NKX25_02, SP3_Q3, GOBP_CHROMOSOME_LOCALIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_OOGENESIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, RACCACAR_AML_Q6, FOXO1_01

GO Biological Process (4): protein ubiquitination (GO:0016567), intracellular signal transduction (GO:0035556), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), regulation of heterochromatin organization (GO:0120261)

GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (3): heterochromatin (GO:0000792), cytosol (GO:0005829), Cul5-RING ubiquitin ligase complex (GO:0031466)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
intracellular anatomical structure	1
signal transduction	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
heterochromatin organization	1
regulation of chromatin organization	1
enzyme-substrate adaptor activity	1
binding	1
chromatin	1
cytoplasm	1
cellular anatomical structure	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

1711 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB7	CCDC127	Q96BQ5	714
ASB7	VCF1	Q969W3	709
ASB7	ARIH2	O95376	652
ASB7	SUPT7L	O94864	647
ASB7	KLHL20	Q9Y2M5	636
ASB7	ASB6	Q9NWX5	633
ASB7	TADA2B	Q86TJ2	624
ASB7	ASB13	Q8WXK3	611
ASB7	MTO1	Q9Y2Z2	564
ASB7	TMTC2	Q8N394	530
ASB7	MGRN1	O60291	508
ASB7	ASB17	Q8WXJ9	477
ASB7	AARS1	P49588	474
ASB7	RFLNA	Q6ZTI6	461
ASB7	ZNRD2	O60232	453

IntAct

44 interactions, top by confidence:

A	B	Type	Score
CUL5	SOCS2	psi-mi:“MI:0914”(association)	0.880
CUL5	ASB7	psi-mi:“MI:0915”(physical association)	0.740
ASB7	HMBOX1	psi-mi:“MI:0915”(physical association)	0.670
CCDC136	ASB7	psi-mi:“MI:0915”(physical association)	0.670
HMBOX1	ASB7	psi-mi:“MI:0915”(physical association)	0.670
ASB7	CCDC136	psi-mi:“MI:0915”(physical association)	0.670
RNF7	ASB7	psi-mi:“MI:0915”(physical association)	0.670
AGRP	TK1	psi-mi:“MI:0914”(association)	0.640
ASB7	POLR3A	psi-mi:“MI:0914”(association)	0.530
CEP170	DAPK3	psi-mi:“MI:0914”(association)	0.530
HAUS1	BET1	psi-mi:“MI:0914”(association)	0.530
ADAM33	LRP5	psi-mi:“MI:0914”(association)	0.530
OGN	NPTX1	psi-mi:“MI:0914”(association)	0.530
GNB2	PFDN6	psi-mi:“MI:0914”(association)	0.530
ASB7	TRIP11	psi-mi:“MI:0914”(association)	0.530
HAUS1	BNIP1	psi-mi:“MI:0914”(association)	0.530
RNF7	SOCS7	psi-mi:“MI:0914”(association)	0.530
HSCB	ASB7	psi-mi:“MI:0915”(physical association)	0.370
ASB7	ATF4	psi-mi:“MI:0915”(physical association)	0.370
JUN		psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
SEPTIN1	SEPTIN4	psi-mi:“MI:0914”(association)	0.350
COLEC11	COL6A1	psi-mi:“MI:0914”(association)	0.350
MTRF1	MEIS1	psi-mi:“MI:0914”(association)	0.350

BioGRID (116): ASB7 (Two-hybrid), ASB7 (Two-hybrid), ASB7 (Affinity Capture-MS), ASB7 (Affinity Capture-MS), ASB7 (Affinity Capture-MS), ASB7 (Affinity Capture-MS), ASB7 (Affinity Capture-MS), PSRC1 (Affinity Capture-MS), PSRC1 (Affinity Capture-Western), ASB7 (Affinity Capture-Western), PSRC1 (Biochemical Activity), CUL5 (Affinity Capture-Western), C8orf34 (Affinity Capture-MS), ASB7 (Affinity Capture-MS), TRIP11 (Affinity Capture-MS)

ESM2 similar proteins: A0PJZ0, A6NHY2, A7E2S9, C7B178, D3J162, G5E8K5, P42570, P42773, P53355, Q08E43, Q10311, Q14DN9, Q18297, Q2T9W8, Q3EC11, Q4R3S3, Q4R544, Q4UJC4, Q4UJJ2, Q5EFR1, Q5I126, Q5I148, Q5I155, Q5I159, Q5I160, Q5R6D7, Q5RCK5, Q5TYM7, Q5VYY1, Q60772, Q60773, Q6XJU9, Q80YE7, Q86WC6, Q91ZT9, Q91ZU0, Q92527, Q9BGT9, Q9CQM6, Q9D119

Diamond homologs: A0A084B9Z8, A2AS55, A4II29, A6NGH8, B4E2M5, F1MJR8, O14593, O75762, Q337A0, Q3KP44, Q3SX00, Q3V096, Q499M5, Q4UMP3, Q54HW1, Q5R8C8, Q5RCK5, Q5U5A6, Q5ZLC8, Q6RI86, Q7T3X9, Q7T3Y0, Q7Z6K4, Q86W74, Q86WC6, Q875S9, Q876L4, Q8BLA8, Q8BLD6, Q8BTI7, Q8C0T1, Q8IWB6, Q91ZA8, Q91ZU0, Q96KQ7, Q9BGT9, Q9BZL4, Q9D119, Q9H672, Q9JRZ6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	0
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1121 predictions. Top by Δscore:

Variant	Effect	Δscore
15:100603044:CAGG:C	donor_loss	1.0000
15:100603045:AGGT:A	donor_loss	1.0000
15:100603047:GTAA:G	donor_loss	1.0000
15:100603210:TCTA:T	acceptor_loss	1.0000
15:100603211:CTAG:C	acceptor_loss	1.0000
15:100603212:TAG:T	acceptor_loss	1.0000
15:100603213:A:AG	acceptor_gain	1.0000
15:100603213:AG:A	acceptor_gain	1.0000
15:100603214:G:GA	acceptor_gain	1.0000
15:100603214:GG:G	acceptor_gain	1.0000
15:100603214:GGT:G	acceptor_gain	1.0000
15:100603214:GGTT:G	acceptor_gain	1.0000
15:100603214:GGTTT:G	acceptor_gain	1.0000
15:100603310:AAAG:A	donor_loss	1.0000
15:100603311:AAG:A	donor_gain	1.0000
15:100603311:AAGGT:A	donor_loss	1.0000
15:100603312:AGGT:A	donor_loss	1.0000
15:100603315:T:G	donor_loss	1.0000
15:100608033:C:G	donor_gain	1.0000
15:100608062:G:T	donor_gain	1.0000
15:100609702:TCTA:T	acceptor_loss	1.0000
15:100609705:A:T	acceptor_loss	1.0000
15:100609706:G:GA	acceptor_loss	1.0000
15:100612161:TAAA:T	acceptor_loss	1.0000
15:100612162:A:AG	acceptor_gain	1.0000
15:100612163:A:G	acceptor_gain	1.0000
15:100612163:AAGGC:A	acceptor_loss	1.0000
15:100612164:A:AG	acceptor_gain	1.0000
15:100612164:A:C	acceptor_loss	1.0000
15:100612164:AGGCT:A	acceptor_gain	1.0000

AlphaMissense

2076 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:100629469:T:C	F82L	1.000
15:100629471:C:A	F82L	1.000
15:100629471:C:G	F82L	1.000
15:100629491:C:A	A89D	1.000
15:100629577:T:A	W118R	1.000
15:100629577:T:C	W118R	1.000
15:100629595:G:C	A124P	1.000
15:100629596:C:A	A124D	1.000
15:100629599:C:A	A125D	1.000
15:100629692:T:C	L156P	1.000
15:100629694:G:C	A157P	1.000
15:100629695:C:A	A157D	1.000
15:100629454:G:C	D77H	0.999
15:100629455:A:C	D77A	0.999
15:100629455:A:T	D77V	0.999
15:100629456:C:A	D77E	0.999
15:100629456:C:G	D77E	0.999
15:100629469:T:A	F82I	0.999
15:100629470:T:C	F82S	0.999
15:100629482:A:G	H86R	0.999
15:100629487:G:C	A88P	0.999
15:100629488:C:A	A88E	0.999
15:100629490:G:C	A89P	0.999
15:100629565:A:C	S114R	0.999
15:100629566:G:T	S114I	0.999
15:100629567:C:A	S114R	0.999
15:100629567:C:G	S114R	0.999
15:100629572:A:T	D116V	0.999
15:100629575:G:T	G117V	0.999
15:100629579:G:C	W118C	0.999

dbSNP variants (sampled 300 via entrez): RS1000013974 (15:100640133 G>A), RS1000021242 (15:100608507 T>C,G), RS1000063000 (15:100640348 A>T), RS1000087912 (15:100609621 C>T), RS1000282202 (15:100620082 T>G), RS1000304604 (15:100614371 C>T), RS1000381088 (15:100641843 C>T), RS1000399319 (15:100626236 T>C), RS1000486948 (15:100614964 C>T), RS1000548530 (15:100613310 A>G), RS1000638697 (15:100612808 G>A,T), RS1000709939 (15:100618646 G>A,C,T), RS1000720234 (15:100624714 C>T), RS1000774393 (15:100614812 T>C,G), RS1000876550 (15:100646769 G>A)

Disease associations

OMIM: gene MIM:615052 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): primary ovarian failure (MONDO:0005387), neurodevelopmental disorder (MONDO:0700092)

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

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST001694_8	Response to taxane treatment (paclitaxel)	1.000000e-06
GCST002764_14	Optic cup area	3.000000e-06
GCST002764_8	Optic cup area	1.000000e-08
GCST003989_29	Chin dimples	9.000000e-13
GCST004075_19	Vertical cup-disc ratio	3.000000e-12
GCST004075_46	Vertical cup-disc ratio	2.000000e-09
GCST004076_32	Optic disc area	4.000000e-08
GCST004137_13	Optic cup area	1.000000e-10
GCST004137_5	Optic cup area	8.000000e-07
GCST004493_7	Lower body strength	2.000000e-06
GCST007565_175	Morning person	2.000000e-15
GCST007576_245	Chronotype	2.000000e-15
GCST009404_24	Optic cup area	4.000000e-08
GCST009412_18	Vertical cup-disc ratio	3.000000e-09
GCST009723_21	Vertical cup-disc ratio (adjusted for vertical disc diameter)	2.000000e-13
GCST009724_63	Vertical cup-disc ratio (multi-trait analysis)	2.000000e-20
GCST010993_3	Anti-drug antibodies in autoimmune disease (time to event)	6.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006939	cup-to-disc ratio measurement
EFO:0007999	lower body strength measurement
EFO:0008328	chronotype measurement
EFO:0010559	anti-drug antibody measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
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

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	increases abundance, increases expression, affects methylation, affects cotreatment	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	affects cotreatment, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
bisphenol A	decreases methylation	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
bisphenol S	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Amiodarone	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	increases expression	1
Formaldehyde	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Plant Oils	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

277 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
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
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
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
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
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
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