DERL3

Summary

DERL3 (derlin 3, HGNC:14236) is a protein-coding gene on chromosome 22q11.23, encoding Derlin-3 (Q96Q80). Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins.

The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

Source: NCBI Gene 91319 — RefSeq curated summary.

At a glance

• GWAS associations: 43
• Clinical variants (ClinVar): 69 total — 1 likely-pathogenic
• MANE Select transcript: NM_001002862

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14236
Approved symbol	DERL3
Name	derlin 3
Location	22q11.23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ43842, MGC71803, derlin-3, IZP6
Ensembl gene	ENSG00000099958
Ensembl biotype	protein_coding
OMIM	610305
Entrez	91319

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000290730, ENST00000318109, ENST00000404056, ENST00000406855, ENST00000464023, ENST00000464034, ENST00000464110, ENST00000476077, ENST00000488272, ENST00000493596, ENST00000877958, ENST00000926839, ENST00000926840

RefSeq mRNA: 4 — MANE Select: NM_001002862 NM_001002862, NM_001135751, NM_001363072, NM_198440

CCDS: CCDS33615, CCDS42986, CCDS46672

Canonical transcript exons

ENST00000318109 — 7 exons

Exon	Start	End
ENSE00000651436	23837659	23837854
ENSE00000651447	23838711	23838776
ENSE00003477405	23837064	23837154
ENSE00003571758	23838564	23838637
ENSE00003616444	23838352	23838445
ENSE00003692329	23834503	23836962
ENSE00003902485	23838895	23839006

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 96.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0388 / max 703.4397, expressed in 939 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193340	5.2953	919
193336	0.3018	32
193342	0.2168	55
193337	0.0793	18
193339	0.0761	27
193338	0.0695	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	96.58	gold quality
duodenum	UBERON:0002114	96.19	gold quality
tonsil	UBERON:0002372	94.25	gold quality
colonic epithelium	UBERON:0000397	92.58	gold quality
vermiform appendix	UBERON:0001154	92.47	gold quality
body of pancreas	UBERON:0001150	92.14	gold quality
lymph node	UBERON:0000029	91.57	gold quality
spleen	UBERON:0002106	90.94	gold quality
bone marrow	UBERON:0002371	90.36	gold quality
mucosa of transverse colon	UBERON:0004991	90.36	gold quality
bone element	UBERON:0001474	90.35	gold quality
rectum	UBERON:0001052	88.97	gold quality
left testis	UBERON:0004533	88.81	gold quality
right testis	UBERON:0004534	88.43	gold quality
testis	UBERON:0000473	88.34	gold quality
saliva-secreting gland	UBERON:0001044	87.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.21	gold quality
minor salivary gland	UBERON:0001830	86.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.15	gold quality
small intestine	UBERON:0002108	83.81	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.42	gold quality
pancreas	UBERON:0001264	82.22	gold quality
body of stomach	UBERON:0001161	82.06	gold quality
transverse colon	UBERON:0001157	82.04	gold quality
right uterine tube	UBERON:0001302	80.25	gold quality
stomach	UBERON:0000945	80.11	gold quality
gall bladder	UBERON:0002110	78.76	gold quality
right lobe of thyroid gland	UBERON:0001119	78.30	gold quality
fundus of stomach	UBERON:0001160	77.56	gold quality
blood	UBERON:0000178	77.21	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-CURD-126	yes	751.35
E-CURD-46	yes	71.93
E-MTAB-8410	yes	61.83
E-HCAD-4	yes	60.56
E-HCAD-1	yes	58.07
E-HCAD-11	yes	25.76
E-MTAB-8142	yes	16.31
E-MTAB-8498	yes	14.60
E-MTAB-10553	yes	14.17
E-MTAB-6678	yes	5.23
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ATF6

miRNA regulators (miRDB)

106 targeting DERL3, 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-4283	100.00	66.42	2097
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-149-3P	99.72	68.22	3963

Literature-anchored findings (GeneRIF, showing 6)

• Findings indicate that Derlin-3 provides the missing link between EDEM and p97 in the process of degrading misfolded glycoproteins. (PMID:16449189)
• SLC2A1 overexpression mediated by DERL3 epigenetic loss contributes to the Warburg effect. (PMID:24699711)
• DERL3 promotes malignant phenotype in BC cells. (PMID:28713959)
• DERL3 is both a tumor suppressor of and a methylation biomarker for gastric cancer. (PMID:31862624)
• Up-regulated DERL3 in fibroblast-like synoviocytes exacerbates inflammation of rheumatoid arthritis. (PMID:32866644)
• Repression of DERL3 via DNA methylation by Epstein-Barr virus latent membrane protein 1 in nasopharyngeal carcinoma. (PMID:36372158)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	derl3	ENSDARG00000033871
mus_musculus	Derl3	ENSMUSG00000009092
rattus_norvegicus	Derl3	ENSRNOG00000028243
drosophila_melanogaster	Der-2	FBGN0038438
caenorhabditis_elegans		WBGENE00020109

Paralogs (2): DERL2 (ENSG00000072849), DERL1 (ENSG00000136986)

Protein

Protein identifiers

Derlin-3 — Q96Q80 (reviewed: Q96Q80)

Alternative names: Degradation in endoplasmic reticulum protein 3, Der1-like protein 3

All UniProt accessions (2): Q96Q80, E7EVA4

UniProt curated annotations — full annotation on UniProt →

Function. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins. May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation.

Subunit / interactions. Forms homo- and heterooligomers with DERL2 and, to a lesser extent, with DERL1. Interacts with VCP and EDEM1. Interacts with SELENOK and SELENOS. Interacts with the signal recognition particle/SRP and the SRP receptor; in the process of endoplasmic reticulum stress-induced pre-emptive quality control.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Unlike DERL1 and DERL2, restricted to several tissues. Expressed at high levels in placenta, pancreas, spleen and small intestine.

Induction. Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR).

Similarity. Belongs to the derlin family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q96Q80-1	1	yes
Q96Q80-2	2
Q96Q80-3	3
Q96Q80-4	4
Q96Q80-5	5

RefSeq proteins (4): NP_001002862, NP_001129223, NP_001350001, NP_940842 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007599	DER1	Family
IPR035952	Rhomboid-like_sf	Homologous_superfamily

Pfam: PF04511

UniProt features (19 total): topological domain 5, splice variant 5, transmembrane region 4, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96Q80-F1	84.33	0.47

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-382556	ABC-family protein mediated transport
R-HSA-5678895	Defective CFTR causes cystic fibrosis
R-HSA-9931269	AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)

MSigDB gene sets: 146 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_ENDOPLASMIC_RETICULUM_TO_CYTOSOL_TRANSPORT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, CMYB_01, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, USF_C, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT

GO Biological Process (5): obsolete protein N-linked glycosylation via asparagine (GO:0018279), endoplasmic reticulum unfolded protein response (GO:0030968), ERAD pathway (GO:0036503), negative regulation of retrograde protein transport, ER to cytosol (GO:1904153), response to stress (GO:0006950)

GO Molecular Function (3): signal recognition particle binding (GO:0005047), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Transport of small molecules	1
ABC transporter disorders	1
Regulation of PD-L1(CD274) Post-translational modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to endoplasmic reticulum stress	2
binding	2
cellular response to unfolded protein	1
intracellular signal transduction	1
proteasomal protein catabolic process	1
response to chemical	1
retrograde protein transport, ER to cytosol	1
negative regulation of protein exit from endoplasmic reticulum	1
regulation of retrograde protein transport, ER to cytosol	1
response to stimulus	1
ribonucleoprotein complex binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1071 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DERL3	EDEM1	Q92611	929
DERL3	SEL1L	Q9UBV2	886
DERL3	OS9	Q13438	865
DERL3	UBE2G2	P56554	804
DERL3	SYVN1	Q86TM6	752
DERL3	ERLEC1	Q96DZ1	750
DERL3	SEC61B	P38390	750
DERL3	VCP	P55072	748
DERL3	HSPA5	P11021	731
DERL3	AUP1	Q9Y679	720
DERL3	XBP1	P17861	700
DERL3	ERN1	O75460	648
DERL3	UBE2J1	Q9Y385	642
DERL3	DERL2	Q9GZP9	641
DERL3	CANX	P27824	640

IntAct

54 interactions, top by confidence:

A	B	Type	Score
DERL3	TEX29	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	DERL3	psi-mi:“MI:0915”(physical association)	0.560
GAD2	DERL3	psi-mi:“MI:0915”(physical association)	0.560
DERL3	EHHADH	psi-mi:“MI:0915”(physical association)	0.560
DERL3		psi-mi:“MI:0915”(physical association)	0.560
EHHADH	DERL3	psi-mi:“MI:0915”(physical association)	0.560
RTP4	DERL3	psi-mi:“MI:0915”(physical association)	0.560
	DERL3	psi-mi:“MI:0915”(physical association)	0.560
DERL3	SLC13A4	psi-mi:“MI:0915”(physical association)	0.560
TEX29	DERL3	psi-mi:“MI:0915”(physical association)	0.560
GPR101	DERL3	psi-mi:“MI:0915”(physical association)	0.560
DERL3	ULBP2	psi-mi:“MI:0915”(physical association)	0.560
GNLY	DERL3	psi-mi:“MI:0915”(physical association)	0.560
DERL3	NDRG4	psi-mi:“MI:0915”(physical association)	0.560
STATH	DERL3	psi-mi:“MI:0915”(physical association)	0.560
TMEM92	DERL3	psi-mi:“MI:0915”(physical association)	0.560
IL27RA	DERL3	psi-mi:“MI:0915”(physical association)	0.560
SYT16	DERL3	psi-mi:“MI:0915”(physical association)	0.560
TMEM179B	DERL3	psi-mi:“MI:0915”(physical association)	0.560
	DENND11	psi-mi:“MI:0914”(association)	0.350
rep	GPR89A	psi-mi:“MI:0914”(association)	0.350
DERL3	RTP4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (31): SERPINA1 (Affinity Capture-Western), DERL3 (Affinity Capture-Western), SRP54 (Affinity Capture-Western), DERL3 (Affinity Capture-Western), SEC61A1 (Affinity Capture-Western), NDRG4 (Two-hybrid), IL27RA (Two-hybrid), EHHADH (Two-hybrid), GNLY (Two-hybrid), STATH (Two-hybrid), ULBP2 (Two-hybrid), RTP4 (Two-hybrid), GAD2 (Two-hybrid), SDCBP (Two-hybrid), SYT16 (Two-hybrid)

ESM2 similar proteins: A4FUB8, E9QBI7, O35394, O95070, O97681, P15920, P58872, P58873, Q0DWA9, Q0P5E4, Q12270, Q12893, Q13488, Q1RMH4, Q28C60, Q3UVK0, Q4V8F3, Q52NJ0, Q5RBS4, Q5XIT3, Q5Z413, Q6BSA9, Q6C741, Q6CDV6, Q6CR06, Q6DCK1, Q6FSG0, Q6P6G5, Q6UPR8, Q755H8, Q7Z2K6, Q874X5, Q8BHC7, Q8BXJ9, Q8RXQ2, Q8TEB9, Q8VC82, Q8VZ96, Q91VU1, Q91XB7

Diamond homologs: O94458, Q0P5E4, Q21997, Q4G2J3, Q4G2J4, Q4G2J5, Q4G2J6, Q54NN1, Q5RC74, Q851X7, Q8BNI4, Q8VZU9, Q96Q80, Q9D8K3, Q9GZP9, Q06397, Q8VZ96, Q99J56, Q9ZS88, Q5R9W3, Q71SS4, Q93561, Q9BUN8, Q9VQ57, Q54IC9, Q9Y7Y0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	46
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	Likely pathogenic

SpliceAI

1113 predictions. Top by Δscore:

Variant	Effect	Δscore
22:23837428:C:CA	donor_gain	1.0000
22:23838234:CTAAG:C	donor_gain	1.0000
22:23838238:G:C	donor_gain	1.0000
22:23838719:T:TA	donor_gain	1.0000
22:23837153:CC:C	acceptor_gain	0.9900
22:23837154:CC:C	acceptor_gain	0.9900
22:23837154:CCTG:C	acceptor_loss	0.9900
22:23837155:C:CC	acceptor_gain	0.9900
22:23837155:C:CG	acceptor_loss	0.9900
22:23837156:T:G	acceptor_loss	0.9900
22:23837425:A:AC	donor_gain	0.9900
22:23837426:C:CC	donor_gain	0.9900
22:23837651:AGGCT:A	donor_loss	0.9900
22:23837652:GGCTC:G	donor_loss	0.9900
22:23837653:GCTCA:G	donor_loss	0.9900
22:23837654:CTCAC:C	donor_loss	0.9900
22:23837655:TCACC:T	donor_loss	0.9900
22:23837656:CACCC:C	donor_loss	0.9900
22:23837657:A:AC	donor_gain	0.9900
22:23837657:A:G	donor_loss	0.9900
22:23837657:AC:A	donor_gain	0.9900
22:23837658:C:CC	donor_gain	0.9900
22:23837658:CC:C	donor_gain	0.9900
22:23837658:CCCAG:C	donor_gain	0.9900
22:23838233:A:AC	donor_gain	0.9900
22:23838234:C:CC	donor_gain	0.9900
22:23838366:C:A	donor_gain	0.9900
22:23838563:CA:C	donor_gain	0.9900
22:23838705:CCTCA:C	donor_loss	0.9900
22:23838706:CTCAC:C	donor_loss	0.9900

AlphaMissense

1524 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:23837142:C:T	G179D	0.992
22:23837659:C:G	G175R	0.992
22:23837659:C:T	G175R	0.992
22:23837783:G:C	S133R	0.992
22:23837783:G:T	S133R	0.992
22:23837785:T:G	S133R	0.992
22:23838409:G:C	F90L	0.992
22:23838409:G:T	F90L	0.992
22:23838411:A:G	F90L	0.992
22:23838630:C:A	R56M	0.992
22:23838630:C:G	R56T	0.991
22:23838634:A:G	W55R	0.991
22:23838634:A:T	W55R	0.991
22:23837143:C:G	G179R	0.989
22:23837154:C:T	G175E	0.989
22:23838629:C:A	R56S	0.987
22:23838629:C:G	R56S	0.987
22:23837659:C:A	G175W	0.986
22:23838421:T:A	E86D	0.986
22:23838421:T:G	E86D	0.986
22:23838435:A:G	C82R	0.984
22:23838608:G:C	F63L	0.984
22:23838608:G:T	F63L	0.984
22:23838610:A:G	F63L	0.984
22:23837716:A:G	W156R	0.983
22:23837716:A:T	W156R	0.983
22:23838914:A:T	V25D	0.981
22:23838918:A:G	C24R	0.981
22:23837788:A:G	W132R	0.980
22:23837788:A:T	W132R	0.980

dbSNP variants (sampled 300 via entrez): RS1000000133 (22:23834333 G>A), RS1000071770 (22:23840596 C>A,T), RS1000571913 (22:23835832 C>T), RS1000643410 (22:23838606 A>C,T), RS1001524832 (22:23837456 A>T), RS1001815495 (22:23835886 A>G), RS1002317329 (22:23839725 A>G), RS1002521151 (22:23838831 C>T), RS1003472492 (22:23834279 G>A), RS1003579057 (22:23839755 C>T), RS1003793200 (22:23834063 C>A,T), RS1005421090 (22:23834045 C>T), RS1005469657 (22:23835336 A>C,G), RS1005987836 (22:23839367 C>A,G,T), RS1006430651 (22:23835180 C>T)

Disease associations

OMIM: gene MIM:610305 | disease phenotypes: MIM:614608, MIM:162091, MIM:609322

GenCC curated gene-disease

Mondo (3): intellectual disability, autosomal dominant 15 (MONDO:0013820), schwannomatosis (MONDO:0008075), rhabdoid tumor predisposition syndrome 1 (MONDO:0012252)

Orphanet (4): Coffin-Siris syndrome (Orphanet:1465), Rhabdoid tumor predisposition syndrome (Orphanet:231108), Rhabdoid tumor (Orphanet:69077), Full schwannomatosis (Orphanet:93921)

HPO phenotypes

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

GWAS associations

43 associations (top):

Study	Trait	p-value
GCST001848_121	IgG glycosylation	1.000000e-16
GCST001848_126	IgG glycosylation	8.000000e-15
GCST001848_211	IgG glycosylation	9.000000e-17
GCST001848_218	IgG glycosylation	9.000000e-17
GCST001848_226	IgG glycosylation	1.000000e-12
GCST001848_241	IgG glycosylation	2.000000e-08
GCST001848_243	IgG glycosylation	1.000000e-10
GCST001848_307	IgG glycosylation	2.000000e-14
GCST001848_349	IgG glycosylation	4.000000e-09
GCST001848_357	IgG glycosylation	4.000000e-09
GCST001848_365	IgG glycosylation	2.000000e-08
GCST001848_388	IgG glycosylation	9.000000e-10
GCST001848_39	IgG glycosylation	2.000000e-07
GCST001848_424	IgG glycosylation	7.000000e-16
GCST001848_462	IgG glycosylation	5.000000e-10
GCST001848_499	IgG glycosylation	3.000000e-08
GCST001848_520	IgG glycosylation	3.000000e-13
GCST001848_579	IgG glycosylation	1.000000e-10
GCST001848_606	IgG glycosylation	4.000000e-06
GCST001848_684	IgG glycosylation	1.000000e-12
GCST001848_72	IgG glycosylation	2.000000e-08
GCST001849_4	IgG glycosylation	2.000000e-07
GCST003483_2	S-phenylmercapturic acid levels in smokers	2.000000e-46
GCST004924_2	IgG monogalactosylation phenotypes (multivariate analysis)	1.000000e-12
GCST004925_4	IgG N-glycosylation phenotypes (multivariate analysis)	3.000000e-11
GCST004926_4	IgG digalactosylation phenotypes (multivariate analysis)	4.000000e-10
GCST004927_3	IgG galactosylation phenotypes (multivariate analysis)	3.000000e-10
GCST004928_2	IgG bisecting N-acetyl glucosamine phenotypes (multivariate analysis)	4.000000e-11
GCST004929_3	IgG fucosylation phenotypes (multivariate analysis)	3.000000e-11
GCST004930_2	IgG sialylation phenotypes (multivariate analysis)	1.000000e-06

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0005193	serum IgG glycosylation measurement
EFO:0007651	urinary S-phenylmercapturic acid measurement
EFO:0008423	IgG monogalactosylation measurement
EFO:0008424	IgG digalactosylation measurement
EFO:0008425	IgG galactosylation measurement
EFO:0008426	IgG bisecting N-acetyl glucosamine measurement
EFO:0008427	IgG fucosylation measurement
EFO:0008428	IgG sialylation measurement
EFO:0008429	IgG disialylation measurement
EFO:0005527	ejection fraction measurement
EFO:0008206	left ventricular systolic function measurement
EFO:0004462	PR interval
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563738	Rhabdoid Tumor Predisposition Syndrome 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
cupric chloride	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
tebuconazole	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Calcitriol	decreases expression	1
Estradiol	increases expression, affects cotreatment	1
Smoke	increases abundance, increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Tunicamycin	increases expression	1
Valproic Acid	decreases expression	1
Gold Compounds	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04163419	PHASE2	UNKNOWN	Phase 2 Study of Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis
NCT05684692	PHASE2	RECRUITING	Screening Trial for Pain Relief in Schwannomatosis (STARFISH)
NCT01885767	Not specified	RECRUITING	Neurofibromatosis (NF) Registry Portal
NCT01951365	Not specified	COMPLETED	Assessment of Volumetric Growth Rates of Spinal Intradural Extramedullary Schwannoma
NCT02298270	Not specified	COMPLETED	Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype
NCT03406208	Not specified	COMPLETED	Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing