ERP44

Summary

ERP44 (endoplasmic reticulum protein 44, HGNC:18311) is a protein-coding gene on chromosome 9q31.1, encoding Endoplasmic reticulum resident protein 44 (Q9BS26). Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif.

This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface.

Source: NCBI Gene 23071 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 53 total — 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_015051

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18311
Approved symbol	ERP44
Name	endoplasmic reticulum protein 44
Location	9q31.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0573, PDIA10
Ensembl gene	ENSG00000023318
Ensembl biotype	protein_coding
OMIM	609170
Entrez	23071

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 11 protein_coding, 6 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000262455, ENST00000684842, ENST00000685319, ENST00000685432, ENST00000686275, ENST00000687017, ENST00000687025, ENST00000687093, ENST00000688230, ENST00000689406, ENST00000690306, ENST00000690317, ENST00000690739, ENST00000691188, ENST00000691823, ENST00000886067, ENST00000886068, ENST00000923941, ENST00000956336, ENST00000956337, ENST00000956338

RefSeq mRNA: 1 — MANE Select: NM_015051 NM_015051

CCDS: CCDS35082

Canonical transcript exons

ENST00000262455 — 12 exons

Exon	Start	End
ENSE00000715899	100020616	100020731
ENSE00000715900	100022042	100022226
ENSE00000805742	100016322	100016438
ENSE00000805743	100018256	100018313
ENSE00000805744	100052417	100052532
ENSE00000805745	100057820	100057859
ENSE00000805746	100060100	100060172
ENSE00000926567	100006506	100006647
ENSE00001090698	99984967	99985069
ENSE00001090701	100007578	100007689
ENSE00001184880	99979185	99982713
ENSE00001284515	100098784	100099000

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 98.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.9484 / max 422.5543, expressed in 1828 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101725	58.9484	1828

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
type B pancreatic cell	CL:0000169	98.87	gold quality
decidua	UBERON:0002450	98.25	gold quality
parotid gland	UBERON:0001831	97.80	gold quality
corpus epididymis	UBERON:0004359	97.56	gold quality
oocyte	CL:0000023	96.77	gold quality
jejunal mucosa	UBERON:0000399	96.49	gold quality
tendon of biceps brachii	UBERON:0008188	96.38	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.35	gold quality
pericardium	UBERON:0002407	96.30	gold quality
placenta	UBERON:0001987	96.21	gold quality
colonic mucosa	UBERON:0000317	96.15	gold quality
cauda epididymis	UBERON:0004360	96.08	gold quality
ileal mucosa	UBERON:0000331	95.88	gold quality
nasal cavity epithelium	UBERON:0005384	95.88	gold quality
cardia of stomach	UBERON:0001162	95.78	gold quality
epithelial cell of pancreas	CL:0000083	95.61	gold quality
secondary oocyte	CL:0000655	95.57	gold quality
mammalian vulva	UBERON:0000997	95.54	gold quality
pylorus	UBERON:0001166	95.45	gold quality
pharyngeal mucosa	UBERON:0000355	95.42	gold quality
vena cava	UBERON:0004087	95.39	gold quality
cartilage tissue	UBERON:0002418	95.19	gold quality
oral cavity	UBERON:0000167	95.16	gold quality
caput epididymis	UBERON:0004358	95.13	gold quality
trabecular bone tissue	UBERON:0002483	94.98	gold quality
cervix epithelium	UBERON:0004801	94.78	gold quality
tongue squamous epithelium	UBERON:0006919	94.45	gold quality
seminal vesicle	UBERON:0000998	94.35	gold quality
oviduct epithelium	UBERON:0004804	94.25	gold quality
jejunum	UBERON:0002115	94.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	no	2.51
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PPARG

miRNA regulators (miRDB)

167 targeting ERP44, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3162-3P	100.00	65.37	363
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-335-3P	99.93	73.36	4958

Literature-anchored findings (GeneRIF, showing 17)

• contains a thioredoxin domain with a CRFS motif and is induced during ER stress (PMID:11847130)
• Ero1alpha and Ero1beta are retained in the endoplasmic reticulum by interactions with PDI and ERp44 (PMID:16677073)
• ERGIC-53 provides a platform that receives micro(2)L(2) subunits from the BiP-dependent checkpoint, assisting polymerization. In this process, ERp44 couples thiol-dependent assembly and quality control. (PMID:17805346)
• ERp44-mediated retention of FGE, indicating that noncovalent interactions between ERp44 and FGE are sufficient to mediate ER retention. (PMID:18178549)
• Study shows that SUMF1 interacts with protein disulfide isomerase (PDI) and ERp44, two thioredoxin family members residing in the early secretory pathway, and with ERGIC-53, a lectin that shuttles between the ER and the Golgi. (PMID:18508857)
• Crystal structure of ERp44 at a resolution of 2.6 A, is presented. (PMID:18552768)
• The ERp44 assembly control cycle couples secretion fidelity and efficiency downstream of the calnexin/calreticulin and BiP-dependent quality control cycles. (PMID:23685074)
• Data indicate that protein disulfide isomerase (PDI) and ERp44 dynamically localize Ero1alpha and peroxiredoxin 4 in early secretory compartment (ESC). (PMID:23979138)
• findings indicated that overexpression of miR-101 could downregulate ERp44 (PMID:24804790)
• Endogenous ERp44 is O-glycosylated and secreted by human primary endometrial cells, suggesting possible pathophysiological roles of these processes. (PMID:25097228)
• the decrease in 5-HT uptake rates of GDM trophoblast is the consequence of defective insulin signaling, which entraps SERT with ERp44 and impairs its glycosylation. (PMID:25512553)
• Results show that ERp44 binds the oxidized but not the reduced form of Prx4; the ERp44-Prx4 complex is formed via thiol-disulfide interchange reactions, and its crystal structure reveals a redox-dependent recognition. (PMID:27642162)
• Endoplasmic reticulum protein 44 (ERp44) forms zinc ions (Zn(2+))-bridged homodimers, which dissociate upon client binding. (PMID:30723194)
• The regulatory network of lncRNA DLX6-AS1/miR-149-5p/ERP44 is possibly related to the progression of preeclampsia. (PMID:32250737)
• Exosomal ERp44 derived from ER-stressed cells strengthens cisplatin resistance of nasopharyngeal carcinoma. (PMID:34493236)
• Protein tyrosine phosphatase receptor type O (PTPRO) knockdown enhances the proliferative, invasive and angiogenic activities of trophoblast cells by suppressing ER resident protein 44 (ERp44) expression in preeclampsia. (PMID:34719307)
• Biogenesis of secretory immunoglobulin M requires intermediate non-native disulfide bonds and engagement of the protein disulfide isomerase ERp44. (PMID:34957576)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	erp44	ENSDARG00000019008
mus_musculus	Erp44	ENSMUSG00000028343
rattus_norvegicus	Erp44	ENSRNOG00000005841
drosophila_melanogaster	ERp44	FBGN0030734
drosophila_melanogaster	CG10029	FBGN0037498
caenorhabditis_elegans	erp-44.1	WBGENE00016278

Paralogs (13): PDIA5 (ENSG00000065485), TMX4 (ENSG00000125827), ERP27 (ENSG00000139055), TMX1 (ENSG00000139921), PDIA6 (ENSG00000143870), TXNDC11 (ENSG00000153066), PDIA4 (ENSG00000155660), TMX3 (ENSG00000166479), PDIA3 (ENSG00000167004), PDILT (ENSG00000169340), PDIA2 (ENSG00000185615), P4HB (ENSG00000185624), TXNDC5 (ENSG00000239264)

Protein

Protein identifiers

Endoplasmic reticulum resident protein 44 — Q9BS26 (reviewed: Q9BS26)

Alternative names: Thioredoxin domain-containing protein 4

All UniProt accessions (10): A0A384MEE7, A0A8I5KNC9, A0A8I5KT21, A0A8I5KTR3, A0A8I5KU76, A0A8I5KVZ0, A0A8I5KW59, A0A8I5KY49, A0A8I5KYU2, Q9BS26

UniProt curated annotations — full annotation on UniProt →

Function. Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum.

Subunit / interactions. Forms mixed disulfides with both ERO1A and ERO1B and cargo folding intermediates; the interactions with ERO1A and ERO1B result in their retention in the endoplasmic reticulum. Directly interacts with ITPR1 in a pH-, redox state- and calcium-dependent manner, but not with ITPR2 or ITPR3. The strength of this interaction inversely correlates with calcium concentration.

Subcellular location. Endoplasmic reticulum lumen.

Induction. Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and dithiothreitol.

RefSeq proteins (1): NP_055866* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013766	Thioredoxin_domain	Domain
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR041862	ERp44_PDI_b_2	Domain
IPR041870	ERp44_PDI_b_1	Domain
IPR052643	ERP44	Family

Pfam: PF00085, PF13848

UniProt features (55 total): strand 18, helix 18, turn 8, disulfide bond 3, region of interest 2, signal peptide 1, chain 1, sequence conflict 1, domain 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
5GU6	X-RAY DIFFRACTION	2
5GU7	X-RAY DIFFRACTION	2.05
5XWM	X-RAY DIFFRACTION	2.45
2R2J	X-RAY DIFFRACTION	2.6
5HQP	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BS26-F1	90.07	0.81

Functional residue map

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

Disulfide bonds (3): 58, 189–241, 301–318

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation

MSigDB gene sets: 203 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, MULLIGHAN_NPM1_SIGNATURE_3_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOCC_CELL_SURFACE, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, TTGGGAG_MIR150, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, GOBP_PROTEIN_MATURATION, GOBP_CELL_REDOX_HOMEOSTASIS, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_PROTEIN_FOLDING, YAMAZAKI_TCEB3_TARGETS_UP

GO Biological Process (5): protein folding (GO:0006457), response to unfolded protein (GO:0006986), glycoprotein metabolic process (GO:0009100), response to endoplasmic reticulum stress (GO:0034976), cell redox homeostasis (GO:0045454)

GO Molecular Function (2): protein disulfide isomerase activity (GO:0003756), protein binding (GO:0005515)

GO Cellular Component (8): extracellular region (GO:0005576), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), cell surface (GO:0009986), specific granule lumen (GO:0035580), extracellular exosome (GO:0070062), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoplasm	2
intracellular membrane-bounded organelle	2
cellular process	1
protein maturation	1
response to topologically incorrect protein	1
protein metabolic process	1
carbohydrate derivative metabolic process	1
cellular response to stress	1
cellular homeostasis	1
intramolecular oxidoreductase activity, transposing S-S bonds	1
catalytic activity, acting on a protein	1
binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
secretory granule lumen	1
specific granule	1
extracellular vesicle	1
endomembrane system	1

Protein interactions and networks

STRING

1941 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERP44	ERO1A	Q96HE7	994
ERP44	ITPR1	Q14643	983
ERP44	ERO1B	Q86YB8	955
ERP44	TXN	P10599	888
ERP44	JCHAIN	P01591	870
ERP44	ZNF385A	Q96PM9	865
ERP44	LMAN1	P49257	847
ERP44	SUMF1	Q8NBK3	837
ERP44	PRDX4	Q13162	771
ERP44	CALR	P27797	711
ERP44	DNAJB11	Q9UBS4	649
ERP44	ADIPOQ	Q15848	636
ERP44	ERP29	P30040	627
ERP44	HYOU1	Q9Y4L1	621
ERP44	CANX	P27824	600

IntAct

121 interactions, top by confidence:

A	B	Type	Score
CASP3	XIAP	psi-mi:“MI:0914”(association)	0.870
YAP1	MPDZ	psi-mi:“MI:0914”(association)	0.780
ERP44	TGFB1	psi-mi:“MI:0914”(association)	0.640
COL1A1	PDIA4	psi-mi:“MI:0914”(association)	0.560
APLP2	ERP44	psi-mi:“MI:0915”(physical association)	0.560
ERP44	CSNK1D	psi-mi:“MI:0915”(physical association)	0.560
ERP44	LYN	psi-mi:“MI:0915”(physical association)	0.560
APP	ERP44	psi-mi:“MI:0915”(physical association)	0.560
FAM53B	SFN	psi-mi:“MI:0914”(association)	0.560
ERP44	MEX3A	psi-mi:“MI:0914”(association)	0.530
TGFB1	NMT2	psi-mi:“MI:0914”(association)	0.530
	PLOD2	psi-mi:“MI:0914”(association)	0.530
DEFA6	EXTL3	psi-mi:“MI:0914”(association)	0.530
TGFB1	LAMC1	psi-mi:“MI:0914”(association)	0.530
CCN5	TRIM68	psi-mi:“MI:0914”(association)	0.530
COL1A1	GOLIM4	psi-mi:“MI:0914”(association)	0.500
COL1A1	GOLIM4	psi-mi:“MI:0915”(physical association)	0.500
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
ERP44	LMAN1	psi-mi:“MI:0915”(physical association)	0.460

BioGRID (247): ERP44 (Affinity Capture-MS), ERP44 (Affinity Capture-MS), ERP44 (Affinity Capture-MS), PNPO (Co-fractionation), SNX2 (Co-fractionation), ERP44 (Affinity Capture-MS), ALDH7A1 (Affinity Capture-MS), NRD1 (Affinity Capture-MS), PIAS1 (Affinity Capture-MS), FAM13A (Affinity Capture-MS), PACSIN2 (Affinity Capture-MS), ERP44 (Affinity Capture-MS), EPB41L4B (Affinity Capture-MS), KMT2C (Affinity Capture-MS), COPS7B (Affinity Capture-MS)

ESM2 similar proteins: A1A4K5, A4IID1, O77836, O95461, P70207, Q08C93, Q13822, Q1EGL1, Q28BP9, Q2HJD0, Q3T0L2, Q3TDN2, Q4R854, Q5BK32, Q5E9T6, Q5F407, Q5M854, Q5R875, Q5REP8, Q5RF53, Q5XIK2, Q64610, Q659X0, Q66PG3, Q6AZH6, Q6BEA0, Q6EV76, Q6EV77, Q6GMK0, Q6GNG3, Q6GQ69, Q6GQI7, Q80UG2, Q812G0, Q8BFR2, Q8BXZ1, Q8N0V4, Q8TDX6, Q96CS3, Q96JJ7

Diamond homologs: A0A8M1N5Y4, D3Z6P0, D4B2L8, O13811, O22022, O22263, O48773, P04785, P05307, P07237, P08003, P09102, P09103, P0A0K4, P0A617, P11598, P12865, P13667, P17967, P21195, P22803, P27773, P29828, P30101, P32474, P34329, P38657, P38658, P38659, P38660, P38661, P46843, P47370, P52227, P52588, P52589, P55059, P80284, P99122, P9WG66

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
ERP44	“down-regulates activity”	ITPR1	binding
Unfolded_Proteins	up-regulates	ERP44
ERO1B	“up-regulates quantity by stabilization”	ERP44	binding
ERO1A	“up-regulates quantity by stabilization”	ERP44	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 161 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
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	5	17.3×	2e-03
COPI-dependent Golgi-to-ER retrograde traffic	8	7.8×	2e-03
COPI-mediated anterograde transport	8	7.7×	2e-03
Extracellular matrix organization	9	5.0×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	8	19.4×	1e-05
neuron apoptotic process	7	9.3×	3e-03
positive regulation of canonical Wnt signaling pathway	8	8.9×	2e-03
endoplasmic reticulum to Golgi vesicle-mediated transport	9	8.8×	6e-04
response to xenobiotic stimulus	10	5.0×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	40
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
402241	Single allele	Likely pathogenic

SpliceAI

2364 predictions. Top by Δscore:

Variant	Effect	Δscore
9:100006504:A:AC	donor_gain	1.0000
9:100006505:C:CC	donor_gain	1.0000
9:100006505:CAATA:C	donor_gain	1.0000
9:100006647:CC:C	acceptor_loss	1.0000
9:100007589:A:AC	donor_gain	1.0000
9:100007607:T:TA	donor_gain	1.0000
9:100007687:TTC:T	acceptor_gain	1.0000
9:100007690:C:A	acceptor_loss	1.0000
9:100007691:T:G	acceptor_loss	1.0000
9:100016316:CCATA:C	donor_loss	1.0000
9:100016317:CATA:C	donor_loss	1.0000
9:100016318:ATACC:A	donor_loss	1.0000
9:100016319:TACCT:T	donor_loss	1.0000
9:100016320:ACCT:A	donor_loss	1.0000
9:100016321:CCT:C	donor_gain	1.0000
9:100016435:AATGC:A	acceptor_loss	1.0000
9:100016436:ATG:A	acceptor_gain	1.0000
9:100016437:TG:T	acceptor_gain	1.0000
9:100016437:TGCTA:T	acceptor_loss	1.0000
9:100016438:GCTAT:G	acceptor_loss	1.0000
9:100016439:C:A	acceptor_loss	1.0000
9:100016439:C:CC	acceptor_gain	1.0000
9:100016440:T:A	acceptor_loss	1.0000
9:100016442:T:TC	acceptor_gain	1.0000
9:100018249:AACTT:A	donor_loss	1.0000
9:100018250:ACTTA:A	donor_loss	1.0000
9:100018251:CTT:C	donor_loss	1.0000
9:100018252:TTA:T	donor_loss	1.0000
9:100018253:TA:T	donor_loss	1.0000
9:100018254:A:AC	donor_gain	1.0000

AlphaMissense

2730 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:100006547:G:C	S325R	1.000
9:100006547:G:T	S325R	1.000
9:100006549:T:G	S325R	1.000
9:100006552:C:G	D324H	1.000
9:100006557:G:T	A322D	1.000
9:100006599:A:G	L308P	1.000
9:100006610:A:C	F304L	1.000
9:100006610:A:T	F304L	1.000
9:100006611:A:C	F304C	1.000
9:100006611:A:G	F304S	1.000
9:100006612:A:G	F304L	1.000
9:100007655:A:G	L266P	1.000
9:100007661:A:G	L264P	1.000
9:100016334:A:C	F250L	1.000
9:100016334:A:T	F250L	1.000
9:100016335:A:C	F250C	1.000
9:100016336:A:G	F250L	1.000
9:100016341:A:T	I248K	1.000
9:100022142:C:A	R124M	1.000
9:100022180:T:A	K111N	1.000
9:100022180:T:G	K111N	1.000
9:100022184:A:G	L110P	1.000
9:100022190:G:A	P108L	1.000
9:100022190:G:C	P108R	1.000
9:100022190:G:T	P108Q	1.000
9:100022191:G:A	P108S	1.000
9:100022191:G:C	P108A	1.000
9:100022191:G:T	P108T	1.000
9:100022193:T:C	Y107C	1.000
9:100022194:A:C	Y107D	1.000

dbSNP variants (sampled 300 via entrez): RS1000012537 (9:100051691 T>C), RS1000094622 (9:100085226 C>T), RS1000106057 (9:100053506 C>G,T), RS1000110079 (9:100083631 T>C), RS1000112046 (9:100036924 G>A), RS1000151516 (9:100003445 T>A,G), RS1000179426 (9:100091040 C>G), RS1000181995 (9:100088915 G>C), RS1000218162 (9:100043453 C>T), RS1000220526 (9:99994177 A>C), RS1000257849 (9:99991844 G>A,T), RS1000277823 (9:100059178 T>C), RS1000306566 (9:100097441 G>A), RS1000316771 (9:100044610 T>C,G), RS1000321042 (9:99997571 A>G)

Disease associations

OMIM: gene MIM:609170 | disease phenotypes: MIM:602088

GenCC curated gene-disease

Mondo (1): nephronophthisis 2 (MONDO:0011190)

Orphanet (2): Nephronophthisis (Orphanet:655), Infantile nephronophthisis (Orphanet:93591)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001949_13	Preeclampsia	3.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566582	Nephronophthisis 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067096 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	4
Valproic Acid	affects expression, decreases methylation, increases expression	4
Cyclosporine	increases expression	4
entinostat	decreases expression, affects cotreatment	2
bisphenol S	affects expression, increases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
beta-N-methylamino-L-alanine	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization, increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
ochratoxin A	increases acetylation, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	increases reaction, affects expression	1
bisphenol B	increases 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
NSC 689534	affects binding, increases expression	1
bisphenol AF	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Vehicle Emissions	affects expression, increases reaction	1
Cadmium	decreases expression	1
Clozapine	affects cotreatment, decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651382	Binding	Binding affinity to human ERP44 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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