SOHLH1

Summary

SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1, HGNC:27845) is a protein-coding gene on chromosome 9q34.3, encoding Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 (Q5JUK2). Transcription regulator of both male and female germline differentiation.

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 402381 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ovarian dysgenesis 5 (Strong, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 104 total — 1 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 21
• MANE Select transcript: NM_001101677

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27845
Approved symbol	SOHLH1
Name	spermatogenesis and oogenesis specific basic helix-loop-helix 1
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27
Ensembl gene	ENSG00000165643
Ensembl biotype	protein_coding
OMIM	610224
Entrez	402381

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000298466, ENST00000425225, ENST00000673731, ENST00000674066, ENST00000950496

RefSeq mRNA: 2 — MANE Select: NM_001101677 NM_001012415, NM_001101677

CCDS: CCDS35174, CCDS48054

Canonical transcript exons

ENST00000425225 — 8 exons

Exon	Start	End
ENSE00001094970	135698329	135698476
ENSE00001094971	135696612	135696805
ENSE00001094972	135698995	135699126
ENSE00001094974	135697506	135697627
ENSE00001213924	135695050	135695263
ENSE00001603659	135694387	135694457
ENSE00001728278	135693407	135693814
ENSE00003897866	135699403	135699481

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 92.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0523 / max 21.7227, expressed in 9 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103098	0.0473	9
103099	0.0050	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	92.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.43	gold quality
anterior cingulate cortex	UBERON:0009835	89.91	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.63	gold quality
prefrontal cortex	UBERON:0000451	86.87	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.59	gold quality
right testis	UBERON:0004534	86.39	gold quality
left testis	UBERON:0004533	85.74	gold quality
frontal cortex	UBERON:0001870	84.22	gold quality
neocortex	UBERON:0001950	83.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.29	gold quality
testis	UBERON:0000473	82.22	gold quality
primary visual cortex	UBERON:0002436	81.36	gold quality
cerebral cortex	UBERON:0000956	80.76	gold quality
amygdala	UBERON:0001876	77.75	gold quality
Ammon’s horn	UBERON:0001954	75.97	gold quality
occipital lobe	UBERON:0002021	75.30	gold quality
forebrain	UBERON:0001890	72.74	gold quality
endothelial cell	CL:0000115	72.24	silver quality
putamen	UBERON:0001874	71.26	gold quality
brain	UBERON:0000955	70.99	gold quality
right hemisphere of cerebellum	UBERON:0014890	70.21	gold quality
cerebellar hemisphere	UBERON:0002245	69.83	gold quality
cerebellar cortex	UBERON:0002129	69.70	gold quality
temporal lobe	UBERON:0001871	69.35	gold quality
buccal mucosa cell	CL:0002336	68.36	gold quality
superior frontal gyrus	UBERON:0002661	68.33	gold quality
cerebellum	UBERON:0002037	67.69	gold quality
pituitary gland	UBERON:0000007	66.09	gold quality
hypothalamus	UBERON:0001898	65.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

4 targets.

Target	Regulation
KIT	Activation
LHX8	Activation
ZP1	Activation
ZP3	Activation

Upstream regulators (CollecTRI, top): DMRT1

miRNA regulators (miRDB)

17 targeting SOHLH1, 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-4267	99.96	66.53	2368
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-342-3P	96.44	67.48	1344
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-6825-3P	88.51	66.17	71

Literature-anchored findings (GeneRIF, showing 9)

• Sohlh1 and Lhx8 are two germ cell-specific, critical regulators of oogenesis (PMID:16690745)
• Findings indicate that a splice-acceptor site mutation that probably causes a nonfunctional SOHLH1 protein results in nonobstructive azoospermia by the lack of normal spermatogenesis. (PMID:20506135)
• No association between SOHLH1 SNPs and azoospermia risk in the Chinese population. (PMID:25463635)
• In Chinese and Serbian patients with primary ovarian insufficiency, SOHLH1 was found to be a candidate gene. (PMID:25527234)
• the expression of Sohlh genes in human tissues (PMID:26375665)
• In glioblastoma (GBM) cell lines, cellular proliferation, migration, and invasion were significantly enhanced after Spermatogenesis- and oogenesis- specific basic helix-loop-helix transcription factor1 (Sohlh1) knockdown, but significantly inhibited after Sohlh1 overexpression. (PMID:29240260)
• Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro. (PMID:33236849)
• The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition. (PMID:34448846)
• Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis. (PMID:38448741)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Sohlh1	ENSMUSG00000059625
rattus_norvegicus	Sohlh1	ENSRNOG00000033983

Paralogs (1): SOHLH2 (ENSG00000120669)

Protein

Protein identifiers

Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 — Q5JUK2 (reviewed: Q5JUK2)

All UniProt accessions (2): A0A669KBI8, Q5JUK2

UniProt curated annotations — full annotation on UniProt →

Function. Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I.

Subunit / interactions. Forms both hetero- and homodimers with SOHLH2.

Subcellular location. Cytoplasm. Nucleus.

Disease relevance. Spermatogenic failure 32 (SPGF32) [MIM:618115] An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. The disease is caused by variants affecting the gene represented in this entry. Ovarian dysgenesis 5 (ODG5) [MIM:617690] A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG5 is an autosomal recessive condition. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5JUK2-1	1	yes
Q5JUK2-2	2

RefSeq proteins (2): NP_001012415, NP_001095147* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011598	bHLH_dom	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR039583	TCFL5/SOLH1/2	Family

Pfam: PF00010

UniProt features (11 total): sequence variant 5, chain 1, domain 1, sequence conflict 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JUK2-F1	58.62	0.12

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 77 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_OOGENESIS, GOBP_MALE_GAMETE_GENERATION, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_OOCYTE_DIFFERENTIATION, GOBP_FEMALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOMF_PROTEIN_HETERODIMERIZATION_ACTIVITY, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, MATZUK_SPERMATOCYTE, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, chr9q34, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_129_MOUSE_UP

GO Biological Process (5): spermatogenesis (GO:0007283), oocyte differentiation (GO:0009994), cell differentiation (GO:0030154), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (8): transcription cis-regulatory region binding (GO:0000976), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), protein dimerization activity (GO:0046983)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
developmental process involved in reproduction	2
regulation of DNA-templated transcription	2
protein dimerization activity	2
cellular anatomical structure	2
male gamete generation	1
cell differentiation	1
oogenesis	1
cellular developmental process	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription by RNA polymerase II	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
identical protein binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
protein binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1286 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOHLH1	LHX8	Q68G74	962
SOHLH1	FIGLA	Q6QHK4	943
SOHLH1	NOBOX	O60393	942
SOHLH1	SOHLH2	Q9NX45	919
SOHLH1	YBX2	Q9Y2T7	897
SOHLH1	GBX1	Q14549	825
SOHLH1	STRA8	Q7Z7C7	736
SOHLH1	ZBTB16	Q05516	697
SOHLH1	NANOS2	P60321	687
SOHLH1	RPA3	P35244	683
SOHLH1	SYCP3	Q8IZU3	648
SOHLH1	GFRA1	P56159	643
SOHLH1	BCL6B	Q8N143	641
SOHLH1	GDF9	O60383	632
SOHLH1	DAZL	Q92904	623

IntAct

83 interactions, top by confidence:

A	B	Type	Score
CTAG1A	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	ZMYND12	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	CERCAM	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	DTX2	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	FAM222B	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	PFDN5	psi-mi:“MI:0915”(physical association)	0.560
CASP3	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
PSMB4	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-5	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	C10orf55	psi-mi:“MI:0915”(physical association)	0.560
IL16	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	NUP54	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	HEMK1	psi-mi:“MI:0915”(physical association)	0.560
SUOX	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	TENT5B	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
TLE5	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	STH	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	PEF1	psi-mi:“MI:0915”(physical association)	0.560
SOHLH1	RUSC1	psi-mi:“MI:0915”(physical association)	0.560
ARID5A	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
PRKAA2	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
ACTN3	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
OIP5	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
RBMX2	WDR46	psi-mi:“MI:0914”(association)	0.530
SOHLH1	MLYCD	psi-mi:“MI:0914”(association)	0.350
SOHLH1	FANCA	psi-mi:“MI:0914”(association)	0.350
CDC45	NCK2	psi-mi:“MI:0914”(association)	0.350
SOHLH1	KCTD8	psi-mi:“MI:0914”(association)	0.350

BioGRID (114): SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid), SOHLH1 (Two-hybrid)

ESM2 similar proteins: A0A5F9ZHS7, A1YGK1, A2T7E6, A8MZG2, O08574, O43593, O60393, O75593, O88621, O95231, P0C1T1, P0CG20, P20428, P97609, Q04667, Q17QR5, Q2KIS6, Q2M1V0, Q2T9Q7, Q32LE6, Q497V6, Q5JUK2, Q5M844, Q5RJB0, Q5TGS1, Q61645, Q61657, Q6ZMY3, Q6ZN32, Q6ZNG2, Q7RTU1, Q8BZW2, Q8CGW9, Q8IWN7, Q8IXT2, Q8IZ20, Q8N1L9, Q8N7G0, Q8N944, Q8N9Y4

Diamond homologs: Q5JUK2, Q6IUP1, Q3MHT3, Q9D489

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
SOHLH1	“up-regulates quantity by expression”	LHX8	“transcriptional regulation”
SOHLH1	“up-regulates quantity by expression”	ZP1	“transcriptional regulation”
SOHLH1	“up-regulates quantity by expression”	ZP3	“transcriptional regulation”
SOHLH1	“up-regulates quantity by expression”	KIT	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	66
Likely benign	18
Benign	9

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1029080	NM_001101677.2(SOHLH1):c.745C>T (p.Gln249Ter)	Pathogenic
1256014	NM_001101677.2(SOHLH1):c.244C>G (p.Gln82Glu)	Likely pathogenic
218901	NM_001101677.2(SOHLH1):c.705del (p.Lys236fs)	Likely pathogenic
2429747	NM_001101677.2(SOHLH1):c.397C>T (p.Gln133Ter)	Likely pathogenic

SpliceAI

1687 predictions. Top by Δscore:

Variant	Effect	Δscore
9:135694385:AC:A	donor_gain	1.0000
9:135694386:CC:C	donor_gain	1.0000
9:135694386:CCCGG:C	donor_gain	1.0000
9:135697645:A:C	acceptor_gain	1.0000
9:135698321:CAA:C	donor_gain	1.0000
9:135698328:CAG:C	donor_gain	1.0000
9:135698991:TCA:T	donor_loss	1.0000
9:135698992:CACCT:C	donor_loss	1.0000
9:135698993:ACC:A	donor_loss	1.0000
9:135698994:C:A	donor_loss	1.0000
9:135699401:A:AC	donor_gain	1.0000
9:135699402:C:CC	donor_gain	1.0000
9:135694382:CT:C	donor_loss	0.9900
9:135694384:CACC:C	donor_loss	0.9900
9:135694385:A:AC	donor_gain	0.9900
9:135694386:C:CC	donor_gain	0.9900
9:135694457:CCTGG:C	acceptor_loss	0.9900
9:135694458:C:CA	acceptor_loss	0.9900
9:135694459:T:G	acceptor_loss	0.9900
9:135695042:GCACT:G	donor_loss	0.9900
9:135695043:CACT:C	donor_loss	0.9900
9:135695044:ACTCA:A	donor_loss	0.9900
9:135695045:CT:C	donor_loss	0.9900
9:135695046:T:TA	donor_loss	0.9900
9:135695048:A:AC	donor_gain	0.9900
9:135695048:A:T	donor_loss	0.9900
9:135695048:AC:A	donor_gain	0.9900
9:135695049:C:CC	donor_gain	0.9900
9:135695049:CC:C	donor_gain	0.9900
9:135695049:CCCGG:C	donor_gain	0.9900

AlphaMissense

2470 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:135698374:G:C	F100L	0.994
9:135698374:G:T	F100L	0.994
9:135698376:A:G	F100L	0.994
9:135698425:G:C	F83L	0.994
9:135698425:G:T	F83L	0.994
9:135698427:A:G	F83L	0.994
9:135698375:A:G	F100S	0.989
9:135698396:A:T	V93D	0.988
9:135698476:C:A	R66S	0.988
9:135698476:C:G	R66S	0.988
9:135698409:C:G	D89H	0.987
9:135698458:G:C	S72R	0.987
9:135698458:G:T	S72R	0.987
9:135698460:T:G	S72R	0.987
9:135698408:T:G	D89A	0.984
9:135698390:T:A	E95V	0.983
9:135698999:G:T	R65S	0.983
9:135698408:T:A	D89V	0.981
9:135698393:A:G	L94P	0.980
9:135698407:G:C	D89E	0.980
9:135698407:G:T	D89E	0.980
9:135698447:A:G	L76P	0.979
9:135698995:C:G	R66T	0.978
9:135698998:C:G	R65P	0.977
9:135698385:A:G	S97P	0.975
9:135698426:A:G	F83S	0.975
9:135698468:A:G	M69T	0.974
9:135698386:C:A	M96I	0.973
9:135698386:C:G	M96I	0.973
9:135698386:C:T	M96I	0.973

dbSNP variants (sampled 300 via entrez): RS1000205958 (9:135697413 G>A), RS1000305656 (9:135699601 A>C,G), RS1000371854 (9:135696059 G>T), RS1000405099 (9:135695270 G>A,C), RS1000405567 (9:135703062 G>T), RS1000708668 (9:135696975 G>GCTGT), RS1000898564 (9:135698082 A>G), RS1001019101 (9:135702063 G>A), RS1001255224 (9:135699296 C>A,T), RS1001558848 (9:135695861 G>A,T), RS1001589266 (9:135695742 G>A), RS1001674599 (9:135699238 C>A), RS1001707144 (9:135699411 C>G,T), RS1001854110 (9:135703692 C>T), RS1002206962 (9:135698589 C>G,T)

Disease associations

OMIM: gene MIM:610224 | disease phenotypes: MIM:617690, MIM:618115, MIM:258150

GenCC curated gene-disease

Disease	Classification	Inheritance
ovarian dysgenesis 5	Strong	Autosomal recessive
spermatogenic failure 32	Strong	Autosomal dominant
hypogonadism	Limited	Autosomal recessive

Mondo (4): ovarian dysgenesis 5 (MONDO:0054666), spermatogenic failure 32 (MONDO:0020855), spermatogenic failure (MONDO:0004983), hypogonadism (MONDO:0002146)

Orphanet (1): Rare genetic premature ovarian failure (Orphanet:485382)

HPO phenotypes

21 total (21 of 21 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000013	Hypoplasia of the uterus
HP:0000027	Azoospermia
HP:0000118	Phenotypic abnormality
HP:0000786	Primary amenorrhea
HP:0000837	Increased circulating gonadotropin level
HP:0002750	Delayed skeletal maturation
HP:0003251	Male infertility
HP:0003621	Juvenile onset
HP:0004322	Short stature
HP:0008214	Decreased serum estradiol
HP:0008232	Elevated circulating follicle stimulating hormone level
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011462	Young adult onset
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia
HP:0011969	Elevated circulating luteinizing hormone level
HP:0025708	Early young adult onset
HP:0034299	Sertoli cell-only phenotype

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007006	Hypogonadism	C19.391.482

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs546120	KCNT1, SOHLH1		0.00	0

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Methotrexate	decreases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Rotenone	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00194675	PHASE4	COMPLETED	TRADE-Testosterone Replacement and Dutasteride Effectiveness
NCT00240981	PHASE4	TERMINATED	TOM: Testosterone in Older Men With Sarcopenia
NCT00287586	PHASE4	COMPLETED	Testosterone Replacement in Older Men and Atherosclerosis Progression
NCT00304213	PHASE4	WITHDRAWN	Does Testosterone Improve Function in Hypogonadal Older Men
NCT00349362	PHASE4	COMPLETED	Testosterone for Men With Insulin Treated Type 2 Diabetes
NCT00421460	PHASE4	COMPLETED	The Therapy of Nebido as Mono or in Combination With PDE-5 Inhibitors in Hypogonadal Patients With Erectile Dysfunction
NCT00440440	PHASE4	WITHDRAWN	Effect of Testosterone Gel Replacement on Fat Mass in Males With Low Testosterone Levels and Diabetes
NCT00487734	PHASE4	COMPLETED	Effect of Testosterone Replacement on Insulin Resistance
NCT00504712	PHASE4	COMPLETED	Testosterone for Peripheral Vascular Disease
NCT00700024	PHASE4	UNKNOWN	Odense Androgen Study - The Effect of Testim and Training in Hypogonadal Men
NCT00710827	PHASE4	WITHDRAWN	Nebido Versus Placebo in Elderly Men With Typical Symptoms of Late Onset Hypogonadism Over a Period of 54 Weeks
NCT00752869	PHASE4	COMPLETED	Efficacy Study for Use of Dutasteride (Avodart) With Testosterone Replacement
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01084369	PHASE4	TERMINATED	Effect of Testosterone on Endothelial Function and Microcirculation in Type 2 Diabetic Patients With Hypogonadism
NCT01092858	PHASE4	TERMINATED	NEBIDO in Symptomatic Late Onset Hypogonadism (SLOH)
NCT01107067	PHASE4	COMPLETED	Testosterone Replacement Therapy Decreases Plasma Paraoxonase 1 Enzyme Activity In Male Patients With Hypogonadism
NCT01123278	PHASE4	COMPLETED	Testosterone Replacement in Metabolic Syndrome and Inflammation
NCT01127659	PHASE4	COMPLETED	Testosterone Replacement in Men With Diabetes and Obesity
NCT01160341	PHASE4	COMPLETED	Metabolic Syndrome Criteria and the Effect of Testosterone Treatment in Young Men With Hypogonadism
NCT01560546	PHASE4	COMPLETED	Testosterone Therapy of Men With Type 2 Diabetes Mellitus (T2DM)
NCT01689896	PHASE4	WITHDRAWN	Testosterone and Pain Sensitivity
NCT01748370	PHASE4	COMPLETED	Vitamin D Treatment and Hypogonadism in Men
NCT01893281	PHASE4	COMPLETED	The Effect of Testosterone Topical Solution (LY900011) in Hypogonadal Men With Suboptimal Response to a Topical Testosterone Gel
NCT02102646	PHASE4	COMPLETED	MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism
NCT02111434	PHASE4	COMPLETED	Visceral Adiposity Index and Triglyceride/High-density Lipoprotein Cholesterol Ratio in the Congenital Hypogonadotropic Hypogonadism and Effect of Testosteron Treatment
NCT02111473	PHASE4	COMPLETED	The Effect of Testosteron Replacement Treatment on the Fibroblast Growth Factor-23, Asymmetric Dimethylarginine and Vitamin D Levels in the Congenital Hypogonadotropic Hypogonadism
NCT02366975	PHASE4	COMPLETED	TRT on BPH Hypoganadal MetS Patients. Florence-PROTEST
NCT02433730	PHASE4	COMPLETED	Testosterone Therapy in Hypogonadal Men Treated With Opioids
NCT02937740	PHASE4	COMPLETED	Open-Label Study, Evaluating Patient Satisfaction and Symptom Improvement When Treating Male Hypogonadism With Natesto™
NCT02959853	PHASE4	COMPLETED	Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot)
NCT03057899	PHASE4	COMPLETED	Efficacy of Fenugreek Seed and Lespedeza Cuneata in TDS
NCT03126656	PHASE4	COMPLETED	Effects of Testosterone on Myocardial Repolarization
NCT03518034	PHASE4	COMPLETED	A Study to Evaluate the Effect of Testosterone Replacement Therapy (TRT) on the Incidence of Major Adverse Cardiovascular Events (MACE) and Efficacy Measures in Hypogonadal Men
NCT03619330	PHASE4	COMPLETED	Testosterone Replacement Therapy and Liraglutide Effects on Weight Loss in Hypogonadism.
NCT03887936	PHASE4	COMPLETED	Testosterone Therapy and Bone Quality in Men With Diabetes and Hypogonadism
NCT04274894	PHASE4	COMPLETED	A Study of the Effect of Topical Testosterone Replacement Therapy on Blood Pressure in Adult Male Participants With Hypogonadism
NCT04320745	PHASE4	COMPLETED	A Study to Evaluate Androderm®’s Effect on Blood Pressure in Adult Hypogonodal Male Participants
NCT04456296	PHASE4	COMPLETED	A Study of the Effect of Testosterone Replacement Therapy on Blood Pressure in Adult Male Participants With Hypogonadism
NCT04976595	PHASE4	UNKNOWN	A Study to Monitor Ambulatory Blood Pressure Monitoring in Hypogonadal Men Treated With Nasal Testosterone Gel
NCT05205837	PHASE4	TERMINATED	A Randomized, Double-blinded, Clinical, Placebo-controlled Trial on the Effects of Therapy With Letrozole and hUman Choriongonadotropin in Male Hypogonadism Induced by Illicit Use of Anabolic Androgenic Steroids- The LUCAS Trial