DERL2

Summary

DERL2 (derlin 2, HGNC:17943) is a protein-coding gene on chromosome 17p13.2, encoding Derlin-2 (Q9GZP9). Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. It is a selective cancer dependency (DepMap: 25.1% of cell lines).

Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).

Source: NCBI Gene 51009 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 22 total
• Cancer dependency (DepMap): dependent in 25.1% of screened cell lines
• MANE Select transcript: NM_016041

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17943
Approved symbol	DERL2
Name	derlin 2
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Aliases	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2
Ensembl gene	ENSG00000072849
Ensembl biotype	protein_coding
OMIM	610304
Entrez	51009

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 25 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000158771, ENST00000570848, ENST00000571476, ENST00000571968, ENST00000571971, ENST00000572834, ENST00000573547, ENST00000573637, ENST00000574700, ENST00000574952, ENST00000575209, ENST00000575605, ENST00000576551, ENST00000889578, ENST00000889579, ENST00000889580, ENST00000889581, ENST00000889582, ENST00000889583, ENST00000889584, ENST00000889585, ENST00000889586, ENST00000889587, ENST00000889588, ENST00000889589, ENST00000889590, ENST00000889591, ENST00000889592, ENST00000889593, ENST00000931637, ENST00000931638, ENST00000931639, ENST00000967035

RefSeq mRNA: 3 — MANE Select: NM_016041 NM_001304777, NM_001304779, NM_016041

CCDS: CCDS11073, CCDS76927

Canonical transcript exons

ENST00000158771 — 7 exons

Exon	Start	End
ENSE00000887166	5481296	5481389
ENSE00001117573	5471254	5474789
ENSE00002669417	5486069	5486178
ENSE00003462800	5485151	5485216
ENSE00003560422	5480387	5480582
ENSE00003568626	5480054	5480144
ENSE00003662106	5482809	5482882

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 98.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4314 / max 108.5483, expressed in 1803 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164033	18.0682	1801
164034	0.3633	149

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	98.03	gold quality
left testis	UBERON:0004533	97.92	gold quality
body of pancreas	UBERON:0001150	97.66	gold quality
calcaneal tendon	UBERON:0003701	96.82	gold quality
testis	UBERON:0000473	96.78	gold quality
right lobe of liver	UBERON:0001114	96.46	gold quality
parotid gland	UBERON:0001831	96.41	gold quality
pancreas	UBERON:0001264	96.00	gold quality
mucosa of transverse colon	UBERON:0004991	95.84	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.74	gold quality
lower esophagus mucosa	UBERON:0035834	95.66	gold quality
granulocyte	CL:0000094	95.60	gold quality
right adrenal gland	UBERON:0001233	95.60	gold quality
right lobe of thyroid gland	UBERON:0001119	95.46	gold quality
right adrenal gland cortex	UBERON:0035827	95.43	gold quality
adenohypophysis	UBERON:0002196	95.40	gold quality
left adrenal gland	UBERON:0001234	95.22	gold quality
adrenal tissue	UBERON:0018303	95.18	gold quality
left adrenal gland cortex	UBERON:0035825	95.14	gold quality
islet of Langerhans	UBERON:0000006	95.12	gold quality
sperm	CL:0000019	95.09	gold quality
adrenal gland	UBERON:0002369	95.03	gold quality
saliva-secreting gland	UBERON:0001044	94.93	gold quality
left lobe of thyroid gland	UBERON:0001120	94.93	gold quality
decidua	UBERON:0002450	94.93	gold quality
monocyte	CL:0000576	94.88	gold quality
leukocyte	CL:0000738	94.81	gold quality
corpus epididymis	UBERON:0004359	94.80	gold quality
mononuclear cell	CL:0000842	94.77	gold quality
stromal cell of endometrium	CL:0002255	94.73	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.79

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4

miRNA regulators (miRDB)

146 targeting DERL2, 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-3163	100.00	77.23	8605
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-17-5P	99.89	73.83	2665

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 25.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• Derlin-2 forms a robust multiprotein complex with the p97 AAA ATPase as well as the mammalian orthologs of the yeast Hrd1p/Hrd3p ubiquitin-ligase complex, and participates in the degradation of proteins from the ER. (PMID:16186509)
• Findings indicate that Derlin-2 provides the missing link between EDEM and p97 in the process of degrading misfolded glycoproteins. (PMID:16449189)
• Required for Polyoma virus infection. (PMID:16912321)
• derlin2 functions with HRD1 in ERAD of certain substrates independent of their glycosylation status. (PMID:23867461)
• specific silencing of Derlin-2, p97 and HRD1 by shRNAs increases steady state levels of proinsulin. these ERAD constituents are critically involved in proinsulin degradation and may therefore also play a role in subsequent antigen generation. (PMID:26107514)
• Derlin-2 is part of a protein quality control mechanism that can rescue glomerular injury attributable to impaired protein folding pathways in the endoplasmic reticulum. (PMID:29167172)
• Endoplasmic Reticulum-Associated Degradation Controls Virus Protein Homeostasis, Which Is Required for Flavivirus Propagation. (PMID:33980593)
• DERL2 (derlin 2) stabilizes BAG6 (BAG cochaperone 6) in chemotherapy resistance of cholangiocarcinoma. (PMID:37815698)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Derl2	ENSMUSG00000018442
rattus_norvegicus	Derl2	ENSRNOG00000055466
drosophila_melanogaster	Der-2	FBGN0038438
caenorhabditis_elegans		WBGENE00020109

Paralogs (2): DERL3 (ENSG00000099958), DERL1 (ENSG00000136986)

Protein

Protein identifiers

Derlin-2 — Q9GZP9 (reviewed: Q9GZP9)

Alternative names: Degradation in endoplasmic reticulum protein 2, Der1-like protein 2, F-LAN-1, F-LANa

All UniProt accessions (8): Q9GZP9, I3L0R8, I3L1S8, I3L1T3, I3L1W3, I3L3R8, I3L4W7, K7EQE8

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 misfolded glycoproteins. May also 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. (Microbial infection) In contrast to DERL1, it is not involved in the degradation of MHC class I heavy chains following infection by cytomegaloviruses.

Subunit / interactions. Forms homo- and heterooligomers with DERL3 and, to a lesser extent, with DERL1. Interacts with the SEL1L/SYVN1 and VCP/SELENOS protein complexes. Mediates association between VCP and EDEM1, as well as that between VCP and the misfolded glycoproteins. Interacts with OS9. 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. Interacts with CCDC47.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitous. Overexpressed in various hepatocarcinomas.

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.

RefSeq proteins (3): NP_001291706, NP_001291708, NP_057125* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007599	DER1	Family
IPR035952	Rhomboid-like_sf	Homologous_superfamily

Pfam: PF04511

UniProt features (12 total): topological domain 5, transmembrane region 4, 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-Q9GZP9-F1	81.82	0.36

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-382556	ABC-family protein mediated transport
R-HSA-5358346	Hedgehog ligand biogenesis
R-HSA-5362768	Hh mutants are degraded by ERAD
R-HSA-5678895	Defective CFTR causes cystic fibrosis
R-HSA-901032	ER Quality Control Compartment (ERQC)
R-HSA-9931269	AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)

MSigDB gene sets: 216 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_ENDOPLASMIC_RETICULUM_TO_CYTOSOL_TRANSPORT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_BEHAVIOR, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_SUCKLING_BEHAVIOR, GOBP_GROWTH, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT

GO Biological Process (10): suckling behavior (GO:0001967), positive regulation of cell population proliferation (GO:0008284), positive regulation of cell growth (GO:0030307), endoplasmic reticulum unfolded protein response (GO:0030968), retrograde protein transport, ER to cytosol (GO:0030970), ERAD pathway (GO:0036503), negative regulation of retrograde protein transport, ER to cytosol (GO:1904153), response to unfolded protein (GO:0006986), proteasomal protein catabolic process (GO:0010498), cellular response to stress (GO:0033554)

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

GO Cellular Component (5): early endosome (GO:0005769), late endosome (GO:0005770), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Transport of small molecules	1
Signaling by Hedgehog	1
Hh mutants abrogate ligand secretion	1
ABC transporter disorders	1
Calnexin/calreticulin cycle	1
Regulation of PD-L1(CD274) Post-translational modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of cellular process	2
response to endoplasmic reticulum stress	2
binding	2
endosome	2
feeding behavior	1
cell population proliferation	1
regulation of cell population proliferation	1
regulation of cell growth	1
cell growth	1
positive regulation of growth	1
cellular response to unfolded protein	1
intracellular signal transduction	1
protein exit from endoplasmic reticulum	1
ERAD pathway	1
endoplasmic reticulum to cytosol transport	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 topologically incorrect protein	1
protein catabolic process	1
response to stress	1
cellular response to stimulus	1
ribonucleoprotein complex binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DERL2	AUP1	Q9Y679	983
DERL2	SEL1L	Q9UBV2	981
DERL2	FAF2	Q96CS3	975
DERL2	OS9	Q13438	973
DERL2	SYVN1	Q86TM6	956
DERL2	UBE2J1	Q9Y385	947
DERL2	EDEM1	Q92611	928
DERL2	HSPA5	P11021	886
DERL2	CANX	P27824	885
DERL2	VCP	P55072	881
DERL2	SELENOS	Q9BQE4	874
DERL2	ERLEC1	Q96DZ1	812
DERL2	P4HB	P07237	805
DERL2	UBE2G2	P56554	805
DERL2	AMFR	P26442	798

IntAct

124 interactions, top by confidence:

A	B	Type	Score
EXOC8	EXOC5	psi-mi:“MI:0914”(association)	0.730
FAF2	UBAC2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
DERL2		psi-mi:“MI:0915”(physical association)	0.560
DERL2	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	DERL2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	DERL2	psi-mi:“MI:0915”(physical association)	0.560
	DERL2	psi-mi:“MI:0915”(physical association)	0.560
MPP1	DERL2	psi-mi:“MI:0915”(physical association)	0.560
DERL2	DIABLO	psi-mi:“MI:0915”(physical association)	0.560
RBFA	DERL2	psi-mi:“MI:0915”(physical association)	0.560
SFT2D1	DERL2	psi-mi:“MI:0915”(physical association)	0.560
DERL2	FXYD6	psi-mi:“MI:0915”(physical association)	0.560
PTPN9	DERL2	psi-mi:“MI:0915”(physical association)	0.560
DERL2	RTN4	psi-mi:“MI:0915”(physical association)	0.560
LPAR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530

BioGRID (204): KRTAP10-7 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), DERL2 (Affinity Capture-MS), STT3A (Affinity Capture-MS), POR (Affinity Capture-MS), UBXN4 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), VIMP (Affinity Capture-MS), AMFR (Affinity Capture-MS), DERL1 (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS), VCP (Affinity Capture-MS), SEL1L (Affinity Capture-MS), EMC3 (Affinity Capture-MS)

ESM2 similar proteins: A2AGA4, A4FUB8, B0Y8W1, B0YCP1, F4JBM4, O74926, P20350, Q06397, Q08232, Q0WQX7, Q12270, Q12893, Q4G2J3, Q4G2J4, Q4G2J5, Q4G2J6, Q4I4A4, Q4V8F3, Q4WLP9, Q5AH12, Q5RBS4, Q5RC74, Q695T9, Q695U0, Q6BSA9, Q6CDV6, Q6CR06, Q6FSG0, Q755H8, Q7S4V5, Q851X7, Q874X5, Q8BHC7, Q8BNI4, Q8LB17, Q8LF05, Q8RXQ2, Q8RXW0, Q8TEB9, Q8VZ48

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Defective CFTR causes cystic fibrosis	5	13.7×	8e-03
Class A/1 (Rhodopsin-like receptors)	8	7.4×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	8	13.8×	1e-04
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	6	12.5×	2e-03
positive regulation of cytosolic calcium ion concentration	8	8.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1185 predictions. Top by Δscore:

Variant	Effect	Δscore
17:5480052:A:AC	donor_gain	1.0000
17:5480053:C:CC	donor_gain	1.0000
17:5486063:GCTCA:G	donor_loss	1.0000
17:5486064:CTCA:C	donor_loss	1.0000
17:5486065:TCA:T	donor_loss	1.0000
17:5486066:CA:C	donor_loss	1.0000
17:5486067:A:AC	donor_gain	1.0000
17:5486067:ACC:A	donor_loss	1.0000
17:5486068:C:CA	donor_loss	1.0000
17:5486068:C:CC	donor_gain	1.0000
17:5486068:CCA:C	donor_gain	1.0000
17:5480045:AATAC:A	donor_loss	0.9900
17:5480046:ATACT:A	donor_loss	0.9900
17:5480047:TAC:T	donor_loss	0.9900
17:5480048:AC:A	donor_loss	0.9900
17:5480049:C:CA	donor_loss	0.9900
17:5480050:T:TC	donor_loss	0.9900
17:5480051:C:CG	donor_loss	0.9900
17:5480052:A:AG	donor_loss	0.9900
17:5480053:CA:C	donor_gain	0.9900
17:5480053:CAA:C	donor_gain	0.9900
17:5480053:CAAAA:C	donor_gain	0.9900
17:5480142:TACC:T	acceptor_loss	0.9900
17:5480143:ACCT:A	acceptor_loss	0.9900
17:5480144:CCT:C	acceptor_loss	0.9900
17:5480145:C:G	acceptor_loss	0.9900
17:5480146:T:G	acceptor_loss	0.9900
17:5485149:A:AC	donor_gain	0.9900
17:5485150:C:CC	donor_gain	0.9900
17:5485214:CTG:C	acceptor_gain	0.9900

AlphaMissense

1568 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:5480132:C:T	G179E	1.000
17:5480133:C:G	G179R	1.000
17:5480133:C:T	G179R	1.000
17:5480387:C:G	G175R	1.000
17:5480516:A:G	W132R	1.000
17:5480516:A:T	W132R	1.000
17:5481353:G:C	F90L	1.000
17:5481353:G:T	F90L	1.000
17:5481355:A:G	F90L	1.000
17:5482875:C:G	R56T	1.000
17:5480132:C:A	G179V	0.999
17:5480144:C:T	G175D	0.999
17:5480387:C:A	G175C	0.999
17:5480432:C:G	G160R	0.999
17:5480432:C:T	G160R	0.999
17:5480437:A:G	L158P	0.999
17:5480437:A:T	L158H	0.999
17:5480444:A:G	W156R	0.999
17:5480444:A:T	W156R	0.999
17:5480446:G:C	P155R	0.999
17:5480446:G:T	P155H	0.999
17:5480449:A:G	L154P	0.999
17:5480509:C:G	R134P	0.999
17:5480511:G:C	S133R	0.999
17:5480511:G:T	S133R	0.999
17:5480513:T:G	S133R	0.999
17:5480548:C:T	G121D	0.999
17:5480549:C:G	G121R	0.999
17:5480553:G:C	F119L	0.999
17:5480553:G:T	F119L	0.999

dbSNP variants (sampled 300 via entrez): RS1000042589 (17:5479307 T>C), RS1000126694 (17:5473530 T>C), RS1000144265 (17:5481663 CTTTT>C), RS1000192971 (17:5476737 A>T), RS1000239552 (17:5482057 C>T), RS1000334647 (17:5487321 G>A,T), RS1000420038 (17:5475409 G>A), RS1000572050 (17:5480363 A>G,T), RS1000863037 (17:5487478 T>C), RS1000873701 (17:5487584 T>C), RS1000969450 (17:5486755 C>G), RS1001038490 (17:5481493 G>C), RS1001075134 (17:5486363 C>CA,CG,CT), RS1001144809 (17:5475072 T>C), RS1001691192 (17:5473830 GAAAAA>G,GAAAA,GAAAAAA)

Disease associations

OMIM: gene MIM:610304 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002915_7	Asparaginase hypersensitivity in acute lymphoblastic leukemia	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004881	asparaginase hypersensitivity

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	affects cotreatment, decreases expression, affects expression	5
sodium arsenite	affects expression, increases expression	3
Cyclosporine	increases expression	3
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Tunicamycin	increases expression	2
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation, increases expression	2
ginger extract	increases abundance, increases expression	1
dicrotophos	decreases expression	1
beta-N-methylamino-L-alanine	increases expression	1
triphenyl phosphate	affects expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
Atrazine	decreases expression	1
Cadmium	increases palmitoylation, decreases reaction, increases abundance	1
Coal	increases abundance, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Oils, Volatile	increases abundance, increases expression	1
Serine	increases expression	1
Smoke	decreases expression, increases abundance	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Thapsigargin	increases expression	1

Clinical trials (associated diseases)

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