SEMG1

Summary

SEMG1 (semenogelin 1, HGNC:10742) is a protein-coding gene on chromosome 20q13.12, encoding Semenogelin-1 (P04279). Predominant protein in semen.

The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20.

Source: NCBI Gene 6406 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 76 total
• MANE Select transcript: NM_003007

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10742
Approved symbol	SEMG1
Name	semenogelin 1
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	CT103
Ensembl gene	ENSG00000124233
Ensembl biotype	protein_coding
OMIM	182140
Entrez	6406

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000372781, ENST00000922694

RefSeq mRNA: 1 — MANE Select: NM_003007 NM_003007

CCDS: CCDS13345

Canonical transcript exons

ENST00000372781 — 3 exons

Exon	Start	End
ENSE00001458632	45207374	45208730
ENSE00001625467	45207033	45207129
ENSE00001955028	45209601	45209768

Expression profiles

Bgee: expression breadth broad, 62 present calls, max score 100.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 221.4734 / max 207707.5535, expressed in 68 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184786	216.9167	66
184785	0.9693	6
184787	0.8663	5
184791	0.8261	6
184788	0.6957	4
184792	0.6632	3
184790	0.2311	3
184789	0.1785	2
209123	0.0668	2
184784	0.0597	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
seminal vesicle	UBERON:0000998	100.00	gold quality
sperm	CL:0000019	99.61	gold quality
male germ cell	CL:0000015	95.28	gold quality
prostate gland	UBERON:0002367	62.38	gold quality
gall bladder	UBERON:0002110	54.30	gold quality
colonic epithelium	UBERON:0000397	52.96	gold quality
tibialis anterior	UBERON:0001385	50.76	silver quality
cranial nerve II	UBERON:0000941	50.42	silver quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
thymus	UBERON:0002370	50.27	silver quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
synovial joint	UBERON:0002217	50.16	gold quality
quadriceps femoris	UBERON:0001377	50.01	gold quality
deltoid	UBERON:0001476	49.48	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
bone marrow cell	CL:0002092	49.27	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
vastus lateralis	UBERON:0001379	49.11	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
left ventricle myocardium	UBERON:0006566	48.24	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

Upstream regulators (CollecTRI, top): GATA1

miRNA regulators (miRDB)

8 targeting SEMG1, 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-6721-5P	99.93	68.92	2981
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-409-5P	97.31	68.07	364
HSA-MIR-602	97.09	61.68	156
HSA-MIR-6730-3P	97.03	67.54	889

Literature-anchored findings (GeneRIF, showing 34)

• Transcripts in the gastro-intestinal tract and skeletal muscle almost exclusively encoded SgI (PMID:12200457)
• Seminal plasma motility inhibitor, one of the fragments of Sg, has its inhibitory effect on ejaculated spermatozoa in liquefied semen under physiological conditions. (PMID:14581514)
• peptides produced by cleavage of semenogelin I, the predominant human semen coagulum protein, had high levels of antibacterial activity. (PMID:14613901)
• structural changes in the semenogelin 1 and 2 proteins that have arisen since the human-chimpanzee-gorilla split may be responsible for the physiological differences between these species ejaculated semen that correlate with their sociosexual behavior (PMID:14629036)
• The binding of Zn2+ to SgI and SgII and their involvment in regulating the activity of PSA are reported. (PMID:15563730)
• in seminal plasma and on spermatozoa following ejaculation, Eppin is bound to semenogelin I (PMID:15590901)
• Authors analyzed an intronic T9 repeat of semenogelin I (SEMG1) and report mutation frequencies of 51% (75 of 146) and 62% (8 of 13) in MMR-deficient primary colorectal cancers and cell lines, respectively. (PMID:15930278)
• The study provides evidence that senile seminal vesicle amyloid is derived from SgI; this form of amyloidosis was provisionally designated as ASgI. (PMID:15962837)
• truncated (lacking 60 amino acids ) & wild-type semenogelin molecules had similar Zn(2+)-binding properties & they showed also similar susceptibility for degradation by prostate-specific antigen (PMID:16582407)
• The semenogelin-CD52 soluble form is a direct consequence of the liquefaction process in human semen. (PMID:17624925)
• The conformational change induced in semenogelin I by the binding of Zn(2+) may contribute to the ability of this protein to form a gel (PMID:17680810)
• SGI is a novel target for protein S-nitrosylation in spermatozoa. (PMID:17683036)
• Peptides from the antimicrobial protein semenogelin I have antibacterial activity. (PMID:18314226)
• SEMG I expression in myeloma cells can be upregulated by 5-azacytidine, IL-4 and IL-6. (PMID:18468680)
• semenogelins I and II were directly cleaved by KLK14. Semenogelins were also able to reverse KLK14 inhibition by Zn2+, providing a novel regulatory mechanism for KLK14 activity. (PMID:18482984)
• antibacterial activity of the semenogelin-derived peptides generated in seminal plasma was strictly zinc-dependent both at neutral and low pH (PMID:18714013)
• Semenogelins (Sgs) modifies the membrane structure, indirectly inhibiting motility, and provides suggestions for a therapy for male infertility through selection of a functional sperm population using Sgs. (PMID:19089943)
• expressed in 46% of patients with early stage chronic lymphocytic leukemia; potential target for cancer vaccines (PMID:19241194)
• Cysteine 239 of rSEMG1 appears to be the critical amino acid for both binding to eppin and inhibiting sperm motility. (PMID:19889947)
• Spermatozoa interact with semenogelin I in solution in a non-Zn2+-dependent manner, but associate with immobilized semenogelin I only in the presence of Zn2+. (PMID:20378931)
• The proteomes of the type-1 diabetic, type-2 diabetic, and non-diabetic obese patients presented elevated amounts of the same set of one molecular form of semenogelin-1, one form of clusterin, and two forms of lactotransferrin. (PMID:21525168)
• These results suggest the involvement of semenogelins in prostate cancer and their prognostic values in predicting cancer progression after radical prostatectomy. (PMID:21557275)
• Peptides released by physiological cleavage of Semg1 and Semg2 form amyloids that enhance HIV infection. (PMID:22177559)
• Nuclear semenogelin I expression could be a reliable prognosticator in men who undergo radical prostatectomy. (PMID:22617231)
• EPPIN’s semenogelin I binding site: a contraceptive drug target. (PMID:22699487)
• Interaction analysis identifies semenogelin I fragments as new binding partners of PIP in human seminal plasma (PMID:23085372)
• SEMG1 was significantly changed in asthenozoosperm, which could be the candidate gene for the development of diagnostic marker and provided the opportunity to further illustrate the biological mechanisms of asthenozoospermia. (PMID:23289976)
• EPPIN and SEMG1 rapidly co-evolved in primates (PMID:24312623)
• Three regions of SEM1(86-107) comprise the amyloid fibril core that enhances HIV-1 infection. (PMID:24811874)
• Data indicate that semenogelin I (Sg I) expression has potential value in predicting renal cell carcinoma (RCC) progression and prognosis, suggesting the use of Sg I as a biomarker for RCC. (PMID:25027395)
• The elevated expression of SEMG1 and reduced expression of miR-525-3p are associated with AZS and male infertility (PMID:30575326)
• The findings demonstrated that the presence of SEMG SNPs increased the frequency of idiopathic male infertility in Chinese-Han population. (PMID:31535590)
• Human Semenogelin 1 Promotes Sperm Survival in the Mouse Female Reproductive Tract. (PMID:32486486)
• SEMG1/2 augment energy metabolism of tumor cells. (PMID:33311447)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Svs3a	ENSMUSG00000017003
mus_musculus	Semg1	ENSMUSG00000040132
mus_musculus	Svs3b	ENSMUSG00000050383
rattus_norvegicus	Semg1	ENSRNOG00000013776
rattus_norvegicus	Svs3b	ENSRNOG00000036782
rattus_norvegicus	Svs3a	ENSRNOG00000062737

Paralogs (1): SEMG2 (ENSG00000124157)

Protein

Protein identifiers

Semenogelin-1 — P04279 (reviewed: P04279)

Alternative names: Cancer/testis antigen 103, Semenogelin I

All UniProt accessions (1): P04279

UniProt curated annotations — full annotation on UniProt →

Function. Predominant protein in semen. It participates in the formation of a gel matrix entrapping the accessory gland secretions and ejaculated spermatozoa. Fragments of semenogelin and/or fragments of the related proteins may contribute to the activation of progressive sperm movements as the gel-forming proteins are fragmented by KLK3/PSA. Alpha-inhibin-92 and alpha-inhibin-31, derived from the proteolytic degradation of semenogelin, inhibit the secretion of pituitary follicle-stimulating hormone.

Subunit / interactions. Occurs in disulfide-linked complexes which may also contain two less abundant 71- and 76-kDa semenogelin-related polypeptides. Interacts with EPPIN (via C-terminus); Cys-239 is a critical amino acid for both binding to EPPIN.

Subcellular location. Secreted.

Tissue specificity. Seminal vesicle.

Post-translational modifications. Transglutaminase substrate. Rapidly cleaved after ejaculation by KLK3/PSA, resulting in liquefaction of the semen coagulum and the progressive release of motile spermatozoa.

Similarity. Belongs to the semenogelin family.

Isoforms (2)

UniProt ID	Names	Canonical?
P04279-1	1	yes
P04279-2	2

RefSeq proteins (1): NP_002998* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008836	Semenogelin	Family

Pfam: PF05474

UniProt features (40 total): region of interest 7, compositionally biased region 6, sequence conflict 5, sequence variant 4, repeat 4, peptide 3, helix 3, strand 2, signal peptide 1, chain 1, modified residue 1, disulfide bond 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7ZRF	SOLUTION NMR
7ZRO	SOLUTION NMR
8BOO	SOLUTION NMR
8BVZ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P04279-F1	32.81	0.00

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 (1): 24

Disulfide bonds (1): 239

Mutagenesis-validated functional residues (1):

Position	Phenotype
239	abrogates binding to eppin and do not inhibit spem motility.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-6803157	Antimicrobial peptides
R-HSA-977225	Amyloid fiber formation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 120 (showing top): GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_BEHAVIOR, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOCC_SECRETORY_GRANULE, GOBP_MALE_GAMETE_GENERATION, GOBP_INSEMINATION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_SPERM_CAPACITATION, EVI1_05, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT

GO Biological Process (9): insemination (GO:0007320), antibacterial humoral response (GO:0019731), killing of cells of another organism (GO:0031640), sperm capacitation (GO:0048240), coagulation (GO:0050817), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), negative regulation of calcium ion import (GO:0090281), positive regulation of serine-type endopeptidase activity (GO:1900005), negative regulation of flagellated sperm motility (GO:1901318)

GO Molecular Function (2): zinc ion binding (GO:0008270), protein binding (GO:0005515)

GO Cellular Component (6): acrosomal vesicle (GO:0001669), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), protein-containing complex (GO:0032991), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Innate Immune System	1
Metabolism of proteins	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
antimicrobial humoral response	2
copulation	1
multi-organism reproductive process	1
multi-multicellular organism process	1
multicellular organismal reproductive process	1
defense response to bacterium	1
cell killing	1
disruption of cell in another organism	1
developmental process involved in reproduction	1
spermatid development	1
cellular process involved in reproduction in multicellular organism	1
cell maturation	1
multicellular organismal process	1
negative regulation of calcium ion transport	1
calcium ion import	1
regulation of calcium ion import	1
serine-type endopeptidase activity	1
positive regulation of endopeptidase activity	1
regulation of serine-type endopeptidase activity	1
negative regulation of cilium movement	1
flagellated sperm motility	1
regulation of flagellated sperm motility	1
negative regulation of cilium-dependent cell motility	1
negative regulation of reproductive process	1
transition metal ion binding	1
binding	1
secretory granule	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1
cellular_component	1
extracellular vesicle	1

Protein interactions and networks

STRING

590 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEMG1	WFDC12	Q8WWY7	858
SEMG1	LTF	P02788	823
SEMG1	EPPIN	O95925	755
SEMG1	CLU	P10909	742
SEMG1	PI3	P19957	728
SEMG1	TGM4	P49221	691
SEMG1	KLK3	P07288	668
SEMG1	SLPI	P03973	666
SEMG1	SEMG2	Q02383	640
SEMG1	FN1	P02751	630
SEMG1	PRM2	P04554	623
SEMG1	LGALS3BP	Q08380	613
SEMG1	WFDC8	Q8IUA0	607
SEMG1	SPINT4	Q6UDR6	595
SEMG1	KLK4	Q9Y5K2	578

IntAct

93 interactions, top by confidence:

A	B	Type	Score
SNTB2	CASK	psi-mi:“MI:0914”(association)	0.670
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
TET2	SEMG1	psi-mi:“MI:0915”(physical association)	0.590
SEMG1	COLGALT2	psi-mi:“MI:0915”(physical association)	0.560
FTH1	A2ML1	psi-mi:“MI:0914”(association)	0.530
PCDHB16	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
CNGA3	C2CD2L	psi-mi:“MI:0914”(association)	0.530
SYT16	DUSP14	psi-mi:“MI:0914”(association)	0.530
HACD1	SEMG1	psi-mi:“MI:0914”(association)	0.530
NUPR1	SEMG1	psi-mi:“MI:0914”(association)	0.530
MSS51	SEMG1	psi-mi:“MI:0914”(association)	0.530
LINC02908	SEMG1	psi-mi:“MI:0914”(association)	0.530
ZSWIM2	SEMG1	psi-mi:“MI:0914”(association)	0.530
LSM14B	SEMG1	psi-mi:“MI:0914”(association)	0.530
SAV1	SEMG1	psi-mi:“MI:0914”(association)	0.530
PHETA2	SEMG1	psi-mi:“MI:0914”(association)	0.530
PIK3R2	BCR/ABL fusion	psi-mi:“MI:0914”(association)	0.460
PTK7	SEMG1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (124): SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COL4A2 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-Western), SEMG1 (Proximity Label-MS), SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUY1, A6NJ88, A6QL64, B3KS81, E9Q6E9, O43493, O48582, O77733, P04279, P0C7A4, P0C7A5, P0CV57, P0DKJ7, P10322, P16225, P48997, P48998, Q02383, Q06990, Q08AG5, Q0ZNK1, Q5JPF3, Q5JRC9, Q5SRN2, Q5U7M7, Q5U7M8, Q5U7M9, Q5U7N0, Q5U7N1, Q5U7N3, Q5U7N4, Q5XHX6, Q659K0, Q6AYN3, Q6JHY2, Q6P902, Q6SJ82, Q6X2M3, Q6XPR3, Q80Y39

Diamond homologs: O77733, P04279, P0C7A4, P0C7A5, Q02383, Q5U7M7, Q5U7M8, Q5U7M9, Q5U7N0, Q5U7N1, Q5U7N3, Q5U7N4, Q6X2M3, Q95196, P22006, F2Z472

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

300 predictions. Top by Δscore:

Variant	Effect	Δscore
20:45207127:AAGG:A	donor_loss	1.0000
20:45207130:G:GG	donor_gain	1.0000
20:45207131:T:G	donor_loss	1.0000
20:45207128:AG:A	donor_gain	0.9900
20:45207129:GG:G	donor_gain	0.9900
20:45207127:AAG:A	donor_gain	0.9800
20:45209595:CTCTA:C	acceptor_loss	0.9800
20:45209596:TCTAG:T	acceptor_loss	0.9800
20:45209598:TAGGT:T	acceptor_loss	0.9800
20:45209599:AGG:A	acceptor_loss	0.9800
20:45209600:G:A	acceptor_loss	0.9800
20:45207126:AAAG:A	donor_gain	0.9700
20:45209600:GGT:G	acceptor_gain	0.9500
20:45207125:AAAAG:A	donor_gain	0.9400
20:45207129:GGT:G	donor_gain	0.9400
20:45207130:GTG:G	donor_gain	0.9400
20:45207126:AAAGG:A	donor_gain	0.9300
20:45207127:AAGGT:A	donor_gain	0.9300
20:45207128:AGGTG:A	donor_gain	0.9300
20:45207131:T:A	donor_gain	0.9300
20:45207132:GAGTG:G	donor_gain	0.9300
20:45209599:A:AG	acceptor_gain	0.9300
20:45209600:G:GG	acceptor_gain	0.9300
20:45207133:AGTGG:A	donor_gain	0.9200
20:45207134:G:C	donor_gain	0.9100
20:45207368:TACCA:T	acceptor_loss	0.9100
20:45207369:ACCAG:A	acceptor_loss	0.9100
20:45207370:CCAG:C	acceptor_loss	0.9100
20:45207371:CAGG:C	acceptor_loss	0.9100
20:45207372:AGG:A	acceptor_loss	0.9100

AlphaMissense

3070 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:45207085:T:C	L11P	0.938
20:45207076:T:A	V8E	0.916
20:45207108:G:C	A19P	0.908
20:45207091:T:C	L13P	0.907
20:45208057:T:C	F254L	0.907
20:45208059:T:A	F254L	0.907
20:45208059:T:G	F254L	0.907
20:45207088:T:C	L12P	0.900
20:45207101:G:C	E16D	0.899
20:45207101:G:T	E16D	0.899
20:45207100:A:T	E16V	0.898
20:45207085:T:G	L11R	0.890
20:45207088:T:G	L12R	0.883
20:45207412:T:C	F39L	0.882
20:45207414:T:A	F39L	0.882
20:45207414:T:G	F39L	0.882
20:45207072:T:C	F7L	0.880
20:45207074:T:A	F7L	0.880
20:45207074:T:G	F7L	0.880
20:45207088:T:A	L12H	0.880
20:45207111:G:C	A20P	0.873
20:45207664:T:C	F123L	0.872
20:45207666:T:A	F123L	0.872
20:45207666:T:G	F123L	0.872
20:45207094:T:C	I14T	0.865
20:45207085:T:A	L11Q	0.861
20:45207094:T:A	I14N	0.857
20:45207107:A:C	Q18H	0.850
20:45207107:A:T	Q18H	0.850
20:45207091:T:A	L13H	0.849

dbSNP variants (sampled 300 via entrez): RS1000979314 (20:45206247 A>G), RS1001674760 (20:45208133 A>G), RS1001728541 (20:45207804 T>C), RS1002022972 (20:45206859 A>G), RS1002077002 (20:45206602 A>T), RS1002683749 (20:45208945 T>C), RS1002733024 (20:45209051 T>A), RS1003934944 (20:45205370 T>C), RS1004411042 (20:45205582 A>C), RS1004714344 (20:45206957 G>A), RS1005657204 (20:45206885 G>A), RS1006834072 (20:45207187 T>C), RS1008801163 (20:45209397 C>G,T), RS1008844566 (20:45205999 A>T), RS1008850437 (20:45209626 G>A)

Disease associations

OMIM: gene MIM:182140 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008103_143	Bipolar disorder	3.000000e-06
GCST010725_40	Malaria	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Zinc	affects binding, affects transport, decreases activity, decreases reaction	3
Benzo(a)pyrene	decreases expression, increases methylation	2
Okadaic Acid	decreases expression, increases expression	2
gambierol	increases expression	1
Decitabine	affects expression	1
Amiodarone	increases expression	1
Arbutin	decreases expression	1
Carbamazepine	affects expression	1
Estradiol	affects binding, increases reaction	1
Methotrexate	affects response to substance	1
Potassium Dichromate	decreases expression	1
Quartz	increases expression	1
Ribonucleotides	affects binding	1
Silicon Dioxide	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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