EDEM2

Summary

EDEM2 (ER degradation enhancing alpha-mannosidase like protein 2, HGNC:15877) is a protein-coding gene on chromosome 20q11.22, encoding ER degradation-enhancing alpha-mannosidase-like protein 2 (Q9BV94). Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner.

In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).

Source: NCBI Gene 55741 — RefSeq curated summary.

At a glance

• GWAS associations: 43
• Clinical variants (ClinVar): 100 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_018217

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15877
Approved symbol	EDEM2
Name	ER degradation enhancing alpha-mannosidase like protein 2
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10783, bA4204.1
Ensembl gene	ENSG00000088298
Ensembl biotype	protein_coding
OMIM	610302
Entrez	55741

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 21 protein_coding

ENST00000374491, ENST00000374492, ENST00000881594, ENST00000881595, ENST00000881596, ENST00000881597, ENST00000881598, ENST00000881599, ENST00000881600, ENST00000881601, ENST00000933155, ENST00000933156, ENST00000933157, ENST00000933158, ENST00000933159, ENST00000959810, ENST00000959811, ENST00000959812, ENST00000959813, ENST00000959814, ENST00000959815

RefSeq mRNA: 3 — MANE Select: NM_018217 NM_001145025, NM_001355008, NM_018217

CCDS: CCDS13247, CCDS46592

Canonical transcript exons

ENST00000374492 — 11 exons

Exon	Start	End
ENSE00000661555	35118598	35118719
ENSE00000661556	35123890	35124034
ENSE00000661557	35126251	35126375
ENSE00001828005	35115364	35115933
ENSE00001908285	35147152	35147336
ENSE00003486403	35131642	35131783
ENSE00003489910	35146825	35146935
ENSE00003581247	35134738	35134949
ENSE00003646072	35144979	35145018
ENSE00003681218	35142373	35142478
ENSE00003686519	35137880	35138005

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 93.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.6649 / max 283.6630, expressed in 1823 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187025	29.3748	1821
187024	1.2807	584
187022	0.5172	248
187023	0.3655	148
187027	0.0504	12
187026	0.0248	9
209092	0.0204	6
187021	0.0157	6
187020	0.0110	3
187019	0.0043	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	93.06	gold quality
monocyte	CL:0000576	91.80	gold quality
leukocyte	CL:0000738	91.72	gold quality
mononuclear cell	CL:0000842	91.64	gold quality
right lobe of liver	UBERON:0001114	90.63	gold quality
islet of Langerhans	UBERON:0000006	90.36	gold quality
right adrenal gland	UBERON:0001233	90.20	gold quality
body of pancreas	UBERON:0001150	90.15	gold quality
left adrenal gland	UBERON:0001234	89.82	gold quality
mucosa of transverse colon	UBERON:0004991	89.66	gold quality
decidua	UBERON:0002450	89.53	gold quality
right adrenal gland cortex	UBERON:0035827	89.47	gold quality
adenohypophysis	UBERON:0002196	89.39	gold quality
spleen	UBERON:0002106	89.37	gold quality
left adrenal gland cortex	UBERON:0035825	89.35	gold quality
blood	UBERON:0000178	89.08	gold quality
pancreas	UBERON:0001264	88.89	gold quality
adrenal cortex	UBERON:0001235	88.36	gold quality
upper lobe of left lung	UBERON:0008952	88.30	gold quality
pituitary gland	UBERON:0000007	88.06	gold quality
rectum	UBERON:0001052	87.97	gold quality
adrenal gland	UBERON:0002369	87.94	gold quality
stromal cell of endometrium	CL:0002255	87.69	gold quality
upper lobe of lung	UBERON:0008948	87.68	gold quality
bone marrow cell	CL:0002092	87.65	gold quality
oocyte	CL:0000023	87.64	gold quality
right coronary artery	UBERON:0001625	87.38	gold quality
omental fat pad	UBERON:0010414	87.25	gold quality
peritoneum	UBERON:0002358	87.23	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.99

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1, XBP1

Literature-anchored findings (GeneRIF, showing 7)

• Degrades misfolded alpha1-antitrypsin in the ER. (PMID:15537790)
• Overexpression of EDEM2 accelerates the degradation of misfolded alpha1-antitrypsin, indicating that the protein is involved in endoplasmic reticulum associated degradation. (PMID:15537790)
• EDEM2 regulates endoplasmic reticulum-associated glycoprotein degradation (PMID:15579471)
• EDEM2 and OS-9 are required for ER-associated degradation of non-glycosylated sonic hedgehog (PMID:24910992)
• Glycoproteins mannose trimming from Man9GlcNAc2 to Man8GlcNAc2 is conducted mainly by EDEM2. (PMID:25092655)
• EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first mannose trimming step in mammalian glycoprotein ERAD. (PMID:32065582)
• A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion. (PMID:32556999)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	edem2	ENSDARG00000028448
mus_musculus	Edem2	ENSMUSG00000038312
rattus_norvegicus	Edem2	ENSRNOG00000019299
drosophila_melanogaster	Edem2	FBGN0032480
drosophila_melanogaster	alpha-Man-Ic	FBGN0051202
drosophila_melanogaster	alpha-Man-Ia	FBGN0259170
caenorhabditis_elegans		WBGENE00008258
caenorhabditis_elegans		WBGENE00013919

Paralogs (6): MAN1A1 (ENSG00000111885), EDEM3 (ENSG00000116406), MAN1C1 (ENSG00000117643), EDEM1 (ENSG00000134109), MAN1B1 (ENSG00000177239), MAN1A2 (ENSG00000198162)

Protein

Protein identifiers

ER degradation-enhancing alpha-mannosidase-like protein 2 — Q9BV94 (reviewed: Q9BV94)

All UniProt accessions (1): Q9BV94

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner. May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2. Seems to recognize and bind to exposed hydrophobic regions in target proteins.

Subcellular location. Endoplasmic reticulum lumen.

Tissue specificity. Expressed ubiquitously in all tissues tested with slightly higher levels detected in small intestine and peripheral blood leukocytes and weakest levels in brain and skeletal muscle.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the glycosyl hydrolase 47 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BV94-1	1	yes
Q9BV94-2	2

RefSeq proteins (3): NP_001138497, NP_001341937, NP_060687* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001382	Glyco_hydro_47	Family
IPR012341	6hp_glycosidase-like_sf	Homologous_superfamily
IPR036026	Seven-hairpin_glycosidases	Homologous_superfamily
IPR044674	EDEM1/2/3	Family

Pfam: PF01532

UniProt features (15 total): glycosylation site 4, sequence variant 3, sequence conflict 2, signal peptide 1, chain 1, mutagenesis site 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-Q9BV94-F1	85.61	0.76

Functional residue map

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

Glycosylation sites (4): 90, 112, 289, 450

Mutagenesis-validated functional residues (1):

Position	Phenotype
117	loss of erad activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-901032	ER Quality Control Compartment (ERQC)
R-HSA-9694548	Maturation of spike protein

MSigDB gene sets: 171 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_ENDOPLASMIC_RETICULUM_TO_CYTOSOL_TRANSPORT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_CARBOHYDRATE_METABOLIC_PROCESS

GO Biological Process (11): carbohydrate metabolic process (GO:0005975), viral protein processing (GO:0019082), endoplasmic reticulum unfolded protein response (GO:0030968), ERAD pathway (GO:0036503), ubiquitin-dependent glycoprotein ERAD pathway (GO:0097466), positive regulation of retrograde protein transport, ER to cytosol (GO:1904154), endoplasmic reticulum mannose trimming (GO:1904380), obsolete mannoprotein catabolic process (GO:0006058), response to unfolded protein (GO:0006986), glycoprotein metabolic process (GO:0009100), mannose trimming involved in glycoprotein ERAD pathway (GO:1904382)

GO Molecular Function (2): mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571), calcium ion binding (GO:0005509)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), membrane (GO:0016020), endoplasmic reticulum quality control compartment (GO:0044322)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Calnexin/calreticulin cycle	1
Translation of Structural Proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to endoplasmic reticulum stress	2
protein alpha-1,2-demannosylation	2
endoplasmic reticulum	2
cellular anatomical structure	2
primary metabolic process	1
viral process	1
viral gene expression	1
cellular response to unfolded protein	1
intracellular signal transduction	1
proteasomal protein catabolic process	1
response to chemical	1
glycoprotein catabolic process	1
ERAD pathway	1
response to glycoprotein	1
retrograde protein transport, ER to cytosol	1
positive regulation of protein exit from endoplasmic reticulum	1
regulation of retrograde protein transport, ER to cytosol	1
endoplasmic reticulum quality control compartment	1
response to topologically incorrect protein	1
protein metabolic process	1
carbohydrate derivative metabolic process	1
protein deglycosylation involved in glycoprotein catabolic process	1
ubiquitin-dependent glycoprotein ERAD pathway	1
mannosyl-oligosaccharide mannosidase activity	1
metal ion binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

880 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EDEM2	CANX	P27824	856
EDEM2	TXNDC11	Q6PKC3	851
EDEM2	MAN2A1	Q16706	811
EDEM2	XBP1	P17861	773
EDEM2	CALR	P27797	762
EDEM2	ERLEC1	Q96DZ1	742
EDEM2	OS9	Q13438	717
EDEM2	MAN2C1	Q9NTJ4	716
EDEM2	UGGT1	Q9NYU2	686
EDEM2	SEL1L	Q9UBV2	658
EDEM2	MOGS	Q13724	628
EDEM2	SERPINA1	P01009	621
EDEM2	UGGT2	Q9NYU1	607
EDEM2	DERL2	Q9GZP9	600
EDEM2	DNAJC10	Q8IXB1	578

IntAct

80 interactions, top by confidence:

A	B	Type	Score
PSMC5	PSMD11	psi-mi:“MI:0914”(association)	0.730
OLFM1	OLFM2	psi-mi:“MI:0914”(association)	0.640
KIAA1328	APC	psi-mi:“MI:0914”(association)	0.550
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
BRINP3	BUB1	psi-mi:“MI:0914”(association)	0.530
FGG	KDM1A	psi-mi:“MI:0914”(association)	0.530
THBS2	AP1G2	psi-mi:“MI:0914”(association)	0.530
ANGPTL7	TCP1	psi-mi:“MI:0914”(association)	0.530
DCT	CANX	psi-mi:“MI:0914”(association)	0.530
PBXIP1	KCNN4	psi-mi:“MI:0914”(association)	0.530
IGHM	ESYT2	psi-mi:“MI:0914”(association)	0.350
ANGPT4	POTEF	psi-mi:“MI:0914”(association)	0.350
KIR2DS5	METTL15	psi-mi:“MI:0914”(association)	0.350
SULF2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
RLN1	RTL8C	psi-mi:“MI:0914”(association)	0.350
EDEM2	HACD1	psi-mi:“MI:0914”(association)	0.350
SYCE1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
CEACAM8	PRRT4	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
LYPD4	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
HEPACAM2	PIK3R2	psi-mi:“MI:0914”(association)	0.350
TMEM30A	TLCD2	psi-mi:“MI:0914”(association)	0.350
TAFAZZIN	MANBA	psi-mi:“MI:0914”(association)	0.350
DHFR2	MANBA	psi-mi:“MI:0914”(association)	0.350
CLU	TOR1A	psi-mi:“MI:0914”(association)	0.350
TMPRSS11B	ADAM10	psi-mi:“MI:0914”(association)	0.350
ABCA2	ABCD4	psi-mi:“MI:0914”(association)	0.350

BioGRID (150): EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), EDEM2 (Affinity Capture-Western), RCOM_2159910 (Affinity Capture-Western), SEL1L (Affinity Capture-Western), CANX (Affinity Capture-Western), EDEM2 (Affinity Capture-Western), UHMK1 (Affinity Capture-MS)

ESM2 similar proteins: A2AJ15, B2GUY0, O02773, O18498, O60476, P32906, P33908, P39098, P45700, P45701, P53624, Q08463, Q10471, Q18788, Q1L8D2, Q2HXL6, Q49A17, Q5EA41, Q5GF25, Q5RFJ6, Q6GQB9, Q6NXH2, Q6P9S7, Q6PB93, Q6WV16, Q80VA0, Q86SF2, Q86SR1, Q8BJT9, Q8H116, Q8J0Q0, Q8K1B9, Q8N428, Q925R7, Q925U4, Q92611, Q93Y37, Q9BV94, Q9BZQ6, Q9C512

Diamond homologs: A1CP08, A1D1W1, A2AJ15, A2QAS2, B0XMT4, B2GUY0, B8N417, D4AV26, E9CXX8, O02773, O18498, O60476, O94726, P31723, P32906, P33908, P39098, P45700, P45701, P53624, Q0D076, Q12563, Q18788, Q2HXL6, Q2ULB2, Q4WRZ5, Q6GQB9, Q8BJT9, Q8H116, Q8J0Q0, Q925U4, Q92611, Q93Y37, Q9BV94, Q9BZQ6, Q9C512, Q9FG93, Q9NR34, Q9P7C3, Q9SXC9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 125 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	8	12.8×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	74
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
152501	GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1	Likely pathogenic

SpliceAI

1804 predictions. Top by Δscore:

Variant	Effect	Δscore
20:35115939:A:AC	acceptor_gain	1.0000
20:35115939:A:C	acceptor_gain	1.0000
20:35118596:A:AC	donor_gain	1.0000
20:35118597:C:CC	donor_gain	1.0000
20:35123884:GCTCA:G	donor_loss	1.0000
20:35123885:CTCA:C	donor_loss	1.0000
20:35123886:TCAC:T	donor_loss	1.0000
20:35123887:CAC:C	donor_loss	1.0000
20:35123888:A:AC	donor_gain	1.0000
20:35123888:ACC:A	donor_loss	1.0000
20:35123889:C:CC	donor_gain	1.0000
20:35123889:CCTGG:C	donor_gain	1.0000
20:35124030:AGGCT:A	acceptor_gain	1.0000
20:35124031:GGCT:G	acceptor_gain	1.0000
20:35124032:GCT:G	acceptor_gain	1.0000
20:35124033:CT:C	acceptor_gain	1.0000
20:35124033:CTC:C	acceptor_gain	1.0000
20:35124034:TC:T	acceptor_loss	1.0000
20:35124034:TCT:T	acceptor_gain	1.0000
20:35124035:C:A	acceptor_gain	1.0000
20:35124035:C:CA	acceptor_loss	1.0000
20:35124035:C:CC	acceptor_gain	1.0000
20:35126246:CCTA:C	donor_loss	1.0000
20:35126248:TACCT:T	donor_loss	1.0000
20:35126250:C:CT	donor_loss	1.0000
20:35126371:ATACT:A	acceptor_gain	1.0000
20:35126372:TACT:T	acceptor_gain	1.0000
20:35126373:ACT:A	acceptor_gain	1.0000
20:35126374:CT:C	acceptor_gain	1.0000
20:35126374:CTC:C	acceptor_gain	1.0000

AlphaMissense

3780 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:35115875:T:A	E432V	1.000
20:35115886:G:C	F428L	1.000
20:35115886:G:T	F428L	1.000
20:35115888:A:G	F428L	1.000
20:35118608:C:T	G409E	1.000
20:35131750:A:G	W246R	1.000
20:35131750:A:T	W246R	1.000
20:35142386:T:A	E117D	1.000
20:35142386:T:G	E117D	1.000
20:35142387:T:A	E117V	1.000
20:35142389:A:C	F116L	1.000
20:35142389:A:T	F116L	1.000
20:35142390:A:C	F116C	1.000
20:35142391:A:G	F116L	1.000
20:35115865:T:A	K435N	0.999
20:35115865:T:G	K435N	0.999
20:35115874:C:A	E432D	0.999
20:35115874:C:G	E432D	0.999
20:35115890:G:C	S427W	0.999
20:35115891:A:G	S427P	0.999
20:35115893:T:A	E426V	0.999
20:35115894:C:T	E426K	0.999
20:35115899:C:G	R424P	0.999
20:35118602:G:T	A411E	0.999
20:35118608:C:A	G409V	0.999
20:35118609:C:G	G409R	0.999
20:35118609:C:T	G409R	0.999
20:35118639:A:G	S399P	0.999
20:35118706:G:C	S376R	0.999
20:35118706:G:T	S376R	0.999

dbSNP variants (sampled 300 via entrez): RS1000054781 (20:35121466 G>A,C), RS1000135164 (20:35118823 A>C), RS1000221783 (20:35141964 G>A), RS1000343169 (20:35148478 G>A), RS1000392389 (20:35145721 G>A), RS1000477413 (20:35130666 T>C), RS1000489685 (20:35148397 C>T), RS1000572365 (20:35141709 A>G), RS1000589645 (20:35123491 C>A,G), RS1000622267 (20:35123736 C>T), RS1000661708 (20:35135509 A>G), RS1000685711 (20:35136438 C>A,G), RS1000734781 (20:35143727 T>A,C), RS1000959980 (20:35126580 G>T), RS1000977504 (20:35129548 G>A,C)

Disease associations

OMIM: gene MIM:610302 | disease phenotypes: MIM:125850, MIM:606391

GenCC curated gene-disease

Mondo (1): maturity-onset diabetes of the young (MONDO:0018911)

Orphanet (1): MODY (Orphanet:552)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0004904	Maturity-onset diabetes of the young

GWAS associations

43 associations (top):

Study	Trait	p-value
GCST000780_4	Protein C levels	7.000000e-37
GCST001378_9	Hemostatic factors and hematological phenotypes	4.000000e-34
GCST001573_2	Prothrombin time	5.000000e-13
GCST003871_13	QRS complex (Cornell)	5.000000e-11
GCST005956_31	Waist-to-hip ratio adjusted for BMI	8.000000e-08
GCST005958_16	Waist-to-hip ratio adjusted for BMI (age >50)	6.000000e-06
GCST005962_40	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-08
GCST006119_11	Protein C levels	5.000000e-17
GCST006611_112	HDL cholesterol	3.000000e-10
GCST008059_142	Estimated glomerular filtration rate	1.000000e-27
GCST008362_40	Birth weight	9.000000e-10
GCST008363_131	Offspring birth weight	7.000000e-09
GCST009097_10	Venous thromboembolism	4.000000e-32
GCST010142_10	Fish- and plant-related diet	8.000000e-12
GCST010241_21	Apolipoprotein A1 levels	1.000000e-17
GCST012227_1081	Hip circumference adjusted for BMI	4.000000e-09
GCST012227_1089	Hip circumference adjusted for BMI	5.000000e-15
GCST012227_1090	Hip circumference adjusted for BMI	1.000000e-09
GCST012227_1091	Hip circumference adjusted for BMI	1.000000e-12
GCST012227_1092	Hip circumference adjusted for BMI	2.000000e-09
GCST012227_1093	Hip circumference adjusted for BMI	5.000000e-15
GCST012227_1095	Hip circumference adjusted for BMI	2.000000e-42
GCST012227_1096	Hip circumference adjusted for BMI	2.000000e-12
GCST012227_1097	Hip circumference adjusted for BMI	2.000000e-29
GCST012228_443	Waist-hip index	4.000000e-10
GCST012228_444	Waist-hip index	5.000000e-10
GCST012228_446	Waist-hip index	2.000000e-17
GCST012228_447	Waist-hip index	8.000000e-12
GCST012230_184	Waist-to-hip ratio adjusted for BMI	5.000000e-11
GCST012230_185	Waist-to-hip ratio adjusted for BMI	2.000000e-11

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0004633	protein C measurement
EFO:0004503	hematological measurement
EFO:0008390	prothrombin time measurement
EFO:0005054	QRS complex
EFO:0007742	QRS amplitude
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0008111	diet measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C562772	Mason-Type Diabetes (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	5
bisphenol A	affects expression, affects methylation, affects cotreatment, increases methylation, increases expression	3
Cyclosporine	increases expression	3
sodium arsenite	decreases expression, increases abundance	2
Benzo(a)pyrene	decreases methylation, affects methylation	2
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
manganese chloride	decreases expression, increases abundance	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
ICG 001	increases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	decreases expression, increases abundance	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Manganese	decreases expression, increases abundance	1
Methapyrilene	decreases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases methylation	1
Tretinoin	increases expression	1
Tunicamycin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07029009	PHASE2	RECRUITING	Liraglutide Treatment in Patients With Maturity-onset Diabetes of the Young (MODY)
NCT01610934	PHASE2/PHASE3	COMPLETED	The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY)
NCT01342939	Not specified	COMPLETED	Pathophysiological Implications of the Incretin Hormones in Maturity Onset of Diabetes of the Young (MODY)
NCT02082132	Not specified	UNKNOWN	MODY in Young-onset Diabetes in Different Ethnicities
NCT02556840	Not specified	COMPLETED	Impact on Birth Weight of Two Therapeutic Strategies (Insulin Therapy From the Beginning of Pregnancy vs. Insulin Therapy Initiated According to Fetal Growth Evaluated by Ultrasonography Measurements) in Pregnant Women With Monogenic Diabetes
NCT03589092	Not specified	UNKNOWN	Genetic Causes of Gestational Diabetes in the Emirati Population
NCT03607604	Not specified	UNKNOWN	Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE
NCT04021199	Not specified	COMPLETED	Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB)
NCT05586594	Not specified	NOT_YET_RECRUITING	Identifying Maturity-onset Diabetes of the Young in Emirati Patients
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05747118	Not specified	COMPLETED	A Feasibility Study of a 12 Week Training Intervention With Patients With Type 2 Diabetes and MODY in Greenland
NCT05918484	Not specified	COMPLETED	Usefulness of Continuous Glucose Monitoring in MODY Diagnosis
NCT06111833	Not specified	RECRUITING	Optimized Diagnosis and Precision Medicine of MODY
NCT06264427	Not specified	RECRUITING	Phenotypic and Genotypic Characterization of Patients With Dysmetabolism in Greenland
NCT06273059	Not specified	UNKNOWN	Genomic Study of Young-Onset Diabetes Mellitus
NCT07492004	Not specified	RECRUITING	China Monogenic Diabetes Registry