ERVFRD-1

Summary

ERVFRD-1 (endogenous retrovirus group FRD member 1, envelope, HGNC:33823) is a protein-coding gene on chromosome 6p24.2, encoding Syncytin-2 (P60508). This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis.

Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene’s protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer.

Source: NCBI Gene 405754 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_207582

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33823
Approved symbol	ERVFRD-1
Name	endogenous retrovirus group FRD member 1, envelope
Location	6p24.2
Locus type	gene with protein product
Status	Approved
Aliases	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2
Ensembl gene	ENSG00000244476
Ensembl biotype	protein_coding
OMIM	610524
Entrez	405754

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000472091, ENST00000715229

RefSeq mRNA: 1 — MANE Select: NM_207582 NM_207582

CCDS: CCDS4519

Canonical transcript exons

ENST00000472091 — 2 exons

Exon	Start	End
ENSE00004026244	11111677	11111725
ENSE00004026245	11102489	11105630

Expression profiles

Bgee: expression breadth broad, 81 present calls, max score 90.62.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.8663 / max 3451.3741, expressed in 70 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
71708	3.2814	53
71711	0.3447	28
71712	0.2124	16
71709	0.0166	6
71710	0.0113	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	90.62	gold quality
tendon of biceps brachii	UBERON:0008188	73.83	gold quality
bone marrow cell	CL:0002092	64.94	silver quality
colonic epithelium	UBERON:0000397	62.42	silver quality
buccal mucosa cell	CL:0002336	61.93	gold quality
adrenal tissue	UBERON:0018303	57.55	gold quality
pigmented layer of retina	UBERON:0001782	57.43	gold quality
lower esophagus muscularis layer	UBERON:0035833	55.27	gold quality
lower esophagus	UBERON:0013473	55.22	gold quality
gall bladder	UBERON:0002110	54.84	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	54.82	gold quality
medial globus pallidus	UBERON:0002477	53.92	gold quality
right adrenal gland cortex	UBERON:0035827	52.84	gold quality
mammary duct	UBERON:0001765	52.56	gold quality
right adrenal gland	UBERON:0001233	52.18	gold quality
globus pallidus	UBERON:0001875	50.93	gold quality
adrenal gland	UBERON:0002369	50.60	gold quality
fundus of stomach	UBERON:0001160	50.40	gold quality
left adrenal gland	UBERON:0001234	50.21	gold quality
left adrenal gland cortex	UBERON:0035825	49.73	gold quality
smooth muscle tissue	UBERON:0001135	49.72	gold quality
adrenal cortex	UBERON:0001235	49.66	gold quality
urinary bladder	UBERON:0001255	49.23	gold quality
esophagus	UBERON:0001043	49.19	gold quality
mucosa of stomach	UBERON:0001199	48.99	gold quality
cerebellar vermis	UBERON:0004720	48.93	gold quality
rectum	UBERON:0001052	48.57	gold quality
tonsil	UBERON:0002372	47.86	gold quality
small intestine	UBERON:0002108	47.70	gold quality
right lung	UBERON:0002167	47.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.20
E-MTAB-7249	no	20.66

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GCM1

miRNA regulators (miRDB)

46 targeting ERVFRD-1, 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-188-3P	100.00	68.76	1240
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-100-3P	99.20	67.33	672
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-12126	98.09	64.82	637
HSA-MIR-12127	97.93	66.67	793
HSA-MIR-5581-5P	97.91	66.50	965
HSA-MIR-4257	97.86	68.05	1190

Literature-anchored findings (GeneRIF, showing 20)

• The crystal structure of a central fragment of syncytin 2 “fossil” ectodomain is reported, allowing a remarkable superposition with the structures of the corresponding domains of present-day infectious retroviruses (PMID:16140326)
• immunolocalized only in the villous trophoblast of the chorionic villi, at the level of cytotrophoblastic cells (PMID:16714059)
• findings show that in both humans and mice, one of the two syncytins (human syncytin-2 and mouse syncytin-B) is immunosuppressive and, rather unexpectedly, the other (human syncytin-1 and mouse syncytin-A) is not (PMID:18077339)
• Syncytin 2 expression illustrates the abnormal trophoblast differentiation observed in placenta of fetal T21-affected pregnancies. (PMID:18215254)
• expression decreased in preeclamptic placentas; may function as a second fusogenic protein for placental cell fusion (PMID:18650494)
• These results highlight the importance of Syncytin-2 in BeWo and primary human trophoblast cell fusion. (PMID:19616006)
• results further highlighted the existence of a correlation between the extent of the decrease in the expression levels of both syncytins 1 and 2 fusogenic proteins and the degree of severity of preeclampsia symptoms (PMID:21493955)
• Analysis of non-spliced ERVFRDE1 mRNAs and env mRNAs detected efficient splicing of endogenously expressed RNAs in trophoblastic but not in non-placental cells. (PMID:21771862)
• MFSD2a, the Syncytin-2 receptor, is important for trophoblast fusion. (PMID:23177091)
• These results thereby demonstrate that induced expression of Syncytin-2 is highly dependent on the interaction of bZIP-containing transcription factors to a CRE/AP-1 motif and that this element is important for the regulation of Syncytin-2 expression (PMID:25781974)
• N-glycans at residues 133, 312, 332 and 443 of syncytin-2 are required for optimal fusion induction, and that single-nucleotide polymorphism C46R, N118S, T367M, R417H, V483I and T522M can alter the fusogenic function of syncytin-2. (PMID:26853155)
• Decreased syncytin-2 and MFSD2 proteins in gestational diabetic placentas might cause abnormal syncytiotrophoblast formation and possibly be involved in the pathology (PMID:26875564)
• ERVWE1, ERVFRDE1 and ERV3 transcription was down-regulated in hydatidiform moles and gestational trophoblastic neoplasia. (PMID:26992684)
• genetic predisposition in ERVFRDE-1 may be associated with an increased risk of preeclampsia. This polymorphism is possibly involved in the regulation of syncytin-2 expression in preeclamptic placenta. (PMID:29750965)
• Endogenous retrovirus-encoded Syncytin-2 contributes to exosome-mediated immunosuppression of T cellsdagger. (PMID:31318021)
• There was a difference (p < 0.0001) between trisomy 7 and other patient groups and controls, regarding to the expression of syncytin-1 gene. Numerous mutations in the syncytin-1 and syncytin-2 genes (on the expression sites) were detected, and the mutation rate was higher in the syncytin-1 gene compared to the syncytin-2 gene in the patient and in the control groups (p < 0.001) (PMID:32145327)
• HERV-W envelope expression in blood leukocytes as a marker of disease severity of COVID-19. (PMID:33993053)
• Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2. (PMID:35710838)
• Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus. (PMID:36768581)
• Transgenic expression of the HERV-W envelope protein leads to polarized glial cell populations and a neurodegenerative environment. (PMID:37695891)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Synb	ENSMUSG00000047977
mus_musculus	Syna	ENSMUSG00000085957
mus_musculus	Gm27179	ENSMUSG00000098773
rattus_norvegicus	Synb	ENSRNOG00000021823
rattus_norvegicus	Ervfrd-1	ENSRNOG00000050672

Paralogs (7): ERV3-1 (ENSG00000213462), ERVMER34-1 (ENSG00000226887), ERVW-1 (ENSG00000242950), ERVV-2 (ENSG00000268964), ERVV-1 (ENSG00000269526), (ENSG00000293569), (ENSG00000293570)

Protein

Protein identifiers

Syncytin-2 — P60508 (reviewed: P60508)

Alternative names: Endogenous retrovirus group FRD member 1, Envelope polyprotein, HERV-FRD, HERV-FRD_6p24.1 provirus ancestral Env polyprotein

All UniProt accessions (1): P60508

UniProt curated annotations — full annotation on UniProt →

Function. This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. The interaction with MFSD2A is apparently important for this process. Endogenous envelope proteins may have kept, lost or modified their original function during evolution but this one can still make pseudotypes with MLV, HIV-1 or SIV-1 virions and confer infectivity. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein mediates receptor recognition, while the transmembrane protein anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane.

Subunit / interactions. The surface and transmembrane proteins form a heterodimer. They are attached by non-covalent interactions or by a labile interchain disulfide bond. Interacts with MFSD2A.

Subcellular location. Virion Cell membrane Cell membrane.

Tissue specificity. Expressed at higher level in placenta. Expressed at lower level in adrenal, bone marrow, brain, breast, colon, kidney, lung, ovary, peripheral blood lymphocytes, prostate, skin, spleen, testis, thymus, thyroid, trachea.

Post-translational modifications. Specific enzymatic cleavages in vivo yield the mature SU and TM proteins. The CXXC motif is highly conserved across a broad range of retroviral envelope proteins. It is thought to participate in the formation of a labile disulfide bond possibly with the CX6CC motif present in the transmembrane protein. Isomerization of the intersubunit disulfide bond to an SU intrachain disulfide bond is thought to occur upon receptor recognition in order to allow membrane fusion.

Domain organisation. Contains the CKS-17 immunosuppressive domain present in many retroviral envelope proteins. As a synthetic peptide, it inhibits immune function in vitro and in vivo.

Miscellaneous. HERV-FRD subgenomic RNA has been observed. Ortholog in old-world and new-world monkeys, but not in prosimians. The human genome contains a high percentage of proviral-like elements, also called endogenous retroviruses (ERVs) that are the genomic traces of ancient infections of the germline by exogenous retroviruses. Although most of these elements are defective, some have conserved a functional envelope (env) gene, most probably diverted by the host for its benefit.

Similarity. Belongs to the gamma type-C retroviral envelope protein family. HERV class-I FRD env subfamily.

RefSeq proteins (1): NP_997465* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018154	TLV/ENV_coat_polyprotein	Family

Pfam: PF00429

UniProt features (29 total): glycosylation site 9, helix 5, chain 3, short sequence motif 3, disulfide bond 3, topological domain 2, signal peptide 1, site 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1Y4M	X-RAY DIFFRACTION	1.6
6RX3	X-RAY DIFFRACTION	2.2
7OIX	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60508-F1	60.71	0.01

Functional residue map

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

Catalytic / active sites (1): 350–351 (cleavage)

Disulfide bonds (3): 43–439, 43–46, 431–438

Glycosylation sites (9): 133, 146, 177, 220, 241, 247, 312, 332, 443

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): chr6p24, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MYOTUBE_DIFFERENTIATION, GOBP_SYNCYTIUM_FORMATION, GOBP_MYOBLAST_FUSION, HARRIS_BRAIN_CANCER_PROGENITORS, GOBP_MUSCLE_CELL_DIFFERENTIATION, KINNEY_DNMT1_METHYLATION_TARGETS, TFEB_TARGET_GENES, ZNF8_TARGET_GENES, MIR625_5P, MIR1303, MIR4716_3P, MIR6794_5P

GO Biological Process (3): syncytium formation by cell-cell fusion (GO:0000768), obsolete syncytium formation (GO:0006949), myoblast fusion (GO:0007520)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell fusion	1
syncytium formation by cell-cell fusion	1
myotube differentiation	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2898 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERVFRD-1	ACE2	Q9BYF1	992
ERVFRD-1	MFSD2A	Q8NA29	987
ERVFRD-1	PLG	P00747	977
ERVFRD-1	FN1	P02751	955
ERVFRD-1	CFH	P08603	938
ERVFRD-1	CDH1	P12830	932
ERVFRD-1	ALB	P02768	866
ERVFRD-1	SLC1A5	Q15758	831
ERVFRD-1	ATAD1	Q8NBU5	796
ERVFRD-1	SLC10A1	Q14973	792
ERVFRD-1	CD4	P01730	759
ERVFRD-1	C3	P01024	743
ERVFRD-1	TLR4	O00206	741
ERVFRD-1	LTF	P02788	718
ERVFRD-1	GYPA	P02724	717

IntAct

64 interactions, top by confidence:

A	B	Type	Score
TMEM60	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
PMP22	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
VAMP5	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
EHHADH	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
GIMAP1	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
CACNG1	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
CCL4L1	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	TMEM60	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	FAM3C	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	PMP22	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	EHHADH	psi-mi:“MI:0915”(physical association)	0.560
MIP	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	SLC30A8	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	CACNG1	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	SLC41A2	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	NXPE3	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	BCL2L2	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	SEC22A	psi-mi:“MI:0915”(physical association)	0.560
ERVFRD-1	CCL4L1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (15): ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), ERVFRD-1 (Two-hybrid), CCL4L2 (Two-hybrid), ERVFRD-1 (Two-hybrid), APP (Reconstituted Complex)

ESM2 similar proteins: B6SEH8, B6SEH9, J7HBH4, O42043, O92955, P03380, P03381, P03383, P03396, P07575, P0C212, P0DTM4, P14075, P21412, P23064, P25057, P25504, P25505, P25506, P25507, P31789, P31796, P51519, P60507, P60508, P60509, P60608, P61550, P61552, P61553, P61554, P61555, P61556, P61557, P61558, P61561, P61562, P61563, P61564, Q03816

Diamond homologs: B6SEH8, B6SEH9, P03385, P03399, P04502, P21415, P21436, P31796, P51515, P60508, P61550, P61553, P61554, P61556, P61557, P61561, P61562, P61563, Q5G5D5, Q8BI41, Q9TTC0, P08360, P11261, P11268, P11370, P15073, P31794, P60509, P61555, P61558, P61564, Q9N2K0, Q9UQF0, P03380, P03381, P03383, P03386, P03387, P03388, P03390

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

408 predictions. Top by Δscore:

Variant	Effect	Δscore
6:11105477:T:C	donor_gain	0.9800
6:11111310:A:C	acceptor_gain	0.9800
6:11111676:CCA:C	donor_gain	0.9800
6:11105476:AT:A	donor_gain	0.9700
6:11111625:A:AC	donor_gain	0.9700
6:11111626:C:CC	donor_gain	0.9700
6:11103759:TGGC:T	acceptor_gain	0.9600
6:11111301:T:TC	acceptor_gain	0.9600
6:11111301:T:C	acceptor_gain	0.9500
6:11103760:GGCC:G	acceptor_loss	0.9400
6:11103763:C:CC	acceptor_gain	0.9400
6:11103763:CTGA:C	acceptor_loss	0.9400
6:11103764:T:C	acceptor_loss	0.9400
6:11109750:T:A	donor_gain	0.9300
6:11103770:C:CT	acceptor_gain	0.9200
6:11111297:CATTT:C	acceptor_gain	0.9100
6:11105476:A:AC	donor_gain	0.9000
6:11105507:T:TA	donor_gain	0.9000
6:11105473:CTTAT:C	donor_gain	0.8900
6:11111675:A:AC	donor_gain	0.8900
6:11111676:C:CC	donor_gain	0.8900
6:11111670:GTCTT:G	donor_loss	0.8800
6:11111673:TTACC:T	donor_loss	0.8800
6:11111674:TA:T	donor_loss	0.8800
6:11111619:C:CT	donor_gain	0.8700
6:11111701:TG:T	donor_gain	0.8700
6:11103765:G:C	acceptor_loss	0.8600
6:11111669:TGTCT:T	donor_loss	0.8600
6:11103771:G:T	acceptor_gain	0.8400
6:11105631:C:CC	acceptor_gain	0.8400

AlphaMissense

3483 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:11104061:C:G	R417P	0.997
6:11104877:C:G	C145S	0.996
6:11104878:A:T	C145S	0.996
6:11105116:C:A	W65C	0.996
6:11105116:C:G	W65C	0.996
6:11103991:A:C	F440L	0.995
6:11103991:A:T	F440L	0.995
6:11103993:A:G	F440L	0.995
6:11104049:T:A	D421V	0.995
6:11104058:C:G	R418P	0.995
6:11105179:C:A	W44C	0.995
6:11105179:C:G	W44C	0.995
6:11104020:A:G	C431R	0.994
6:11104050:C:G	D421H	0.994
6:11104062:G:T	R417S	0.994
6:11104361:C:G	C317S	0.994
6:11104362:A:T	C317S	0.994
6:11104934:C:G	C126S	0.994
6:11104935:A:T	C126S	0.994
6:11104018:A:C	C431W	0.993
6:11104019:C:G	C431S	0.993
6:11104020:A:T	C431S	0.993
6:11104052:A:G	L420P	0.993
6:11104063:A:C	N416K	0.993
6:11104063:A:T	N416K	0.993
6:11104360:A:C	C317W	0.993
6:11104409:C:G	C301S	0.993
6:11104410:A:T	C301S	0.993
6:11104878:A:G	C145R	0.993
6:11104049:T:G	D421A	0.992

dbSNP variants (sampled 300 via entrez): RS1000019683 (6:11105671 A>G), RS1000088105 (6:11104046 A>T), RS1000209663 (6:11102869 A>G), RS1000454643 (6:11105282 A>G), RS1000620017 (6:11107651 C>G), RS1000678837 (6:11109225 C>T), RS1001471418 (6:11107453 G>A), RS1001493108 (6:11106452 C>T), RS1001898675 (6:11107177 A>C), RS1001964420 (6:11113509 A>G), RS1002128819 (6:11102526 C>G), RS1002736752 (6:11111728 T>A), RS1003337594 (6:11113475 T>C), RS1003791834 (6:11102667 G>A), RS1003793836 (6:11106281 A>C)

Disease associations

OMIM: gene MIM:610524 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Colforsin	decreases reaction, increases abundance, increases expression, increases reaction, increases secretion (+1 more)	8
bisphenol A	decreases expression, increases expression	2
perfluorooctanoic acid	decreases expression, increases expression	2
Cadmium	decreases reaction, increases abundance, increases expression, decreases expression	2
Cadmium Chloride	decreases reaction, increases abundance, increases expression, decreases expression	2
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	decreases expression	1
2,4,6-tribromophenol	increases expression	1
alpha-naphthoflavone	decreases reaction, increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
terbufos	decreases methylation	1
tetrabromobisphenol A	increases expression	1
N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	increases expression, affects reaction	1
perfluorooctane sulfonic acid	decreases expression	1
27-hydroxycholesterol	decreases reaction, decreases expression	1
anandamide	decreases expression	1
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	decreases expression, decreases reaction	1
iodopravadoline	affects reaction, decreases expression	1
AM 251	affects reaction, decreases expression	1
pifithrin	increases expression, decreases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases reaction, increases expression, increases reaction	1
Cisplatin	affects response to substance	1
Diethylhexyl Phthalate	increases expression	1
Fonofos	decreases methylation	1
Estradiol	increases expression	1
Etoposide	affects response to substance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D8ES	Ubigene BeWo ERVFRD-1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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