ERP29

Summary

ERP29 (endoplasmic reticulum protein 29, HGNC:13799) is a protein-coding gene on chromosome 12q24.13, encoding Endoplasmic reticulum resident protein 29 (P30040). Does not seem to be a disulfide isomerase.

This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 10961 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 42 total
• Druggable target: yes
• MANE Select transcript: NM_006817

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13799
Approved symbol	ERP29
Name	endoplasmic reticulum protein 29
Location	12q24.13
Locus type	gene with protein product
Status	Approved
Aliases	ERp28, ERp31, PDI-DB, PDIA9
Ensembl gene	ENSG00000089248
Ensembl biotype	protein_coding
OMIM	602287
Entrez	10961

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 13 protein_coding, 1 retained_intron

ENST00000261735, ENST00000455836, ENST00000546477, ENST00000552052, ENST00000553161, ENST00000880255, ENST00000880256, ENST00000880257, ENST00000938510, ENST00000938511, ENST00000938512, ENST00000938513, ENST00000938514, ENST00000945316

RefSeq mRNA: 2 — MANE Select: NM_006817 NM_001034025, NM_006817

CCDS: CCDS44977, CCDS9158

Canonical transcript exons

ENST00000261735 — 3 exons

Exon	Start	End
ENSE00002342107	112022150	112023449
ENSE00002376262	112013426	112013609
ENSE00003607618	112019756	112019894

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 98.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 128.8547 / max 751.0884, expressed in 1827 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128058	118.5017	1827
128057	5.6473	1716
128056	4.4070	1666
128059	0.2987	108

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	98.97	gold quality
monocyte	CL:0000576	98.71	gold quality
mononuclear cell	CL:0000842	98.69	gold quality
leukocyte	CL:0000738	98.68	gold quality
type B pancreatic cell	CL:0000169	98.67	gold quality
trachea	UBERON:0003126	98.66	gold quality
granulocyte	CL:0000094	98.51	gold quality
cardia of stomach	UBERON:0001162	98.51	gold quality
body of pancreas	UBERON:0001150	98.50	gold quality
pylorus	UBERON:0001166	98.49	gold quality
thymus	UBERON:0002370	98.43	gold quality
bone marrow cell	CL:0002092	98.28	gold quality
lymph node	UBERON:0000029	98.18	gold quality
nipple	UBERON:0002030	98.18	gold quality
mucosa of transverse colon	UBERON:0004991	98.17	gold quality
bone marrow	UBERON:0002371	98.16	gold quality
renal medulla	UBERON:0000362	98.07	gold quality
islet of Langerhans	UBERON:0000006	98.06	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.87	gold quality
body of stomach	UBERON:0001161	97.86	gold quality
right adrenal gland cortex	UBERON:0035827	97.78	gold quality
pancreas	UBERON:0001264	97.74	gold quality
stromal cell of endometrium	CL:0002255	97.73	gold quality
tendon of biceps brachii	UBERON:0008188	97.72	gold quality
spleen	UBERON:0002106	97.70	gold quality
right adrenal gland	UBERON:0001233	97.67	gold quality
urethra	UBERON:0000057	97.64	gold quality
skin of leg	UBERON:0001511	97.58	gold quality
minor salivary gland	UBERON:0001830	97.57	gold quality
saliva-secreting gland	UBERON:0001044	97.55	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	69.32
E-HCAD-6	yes	48.15
E-ANND-3	yes	18.06
E-MTAB-10042	yes	16.71
E-HCAD-1	yes	15.56
E-HCAD-10	yes	15.49
E-MTAB-6701	yes	14.52
E-CURD-112	yes	14.16
E-MTAB-8498	yes	12.23
E-CURD-122	yes	6.32
E-GEOD-124858	no	153.41
E-HCAD-31	no	22.04

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

Target	Regulation
CCND2	Repression
DNAJC3	Activation
EGFR	Repression
EIF2AK3	Activation
HSPA5	Activation
ITGB1	Repression
PLAUR	Repression

Upstream regulators (CollecTRI, top): XBP1

miRNA regulators (miRDB)

52 targeting ERP29, 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-4673	100.00	66.64	1490
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-622	98.99	66.48	1050
HSA-MIR-3127-3P	98.94	67.34	1055

Literature-anchored findings (GeneRIF, showing 40)

• Expression and tissue distribution of ERp29 [review] (PMID:12362325)
• ERp29 is an unusual redox-inactive member of the thioredoxin family [review] (PMID:16677078)
• ERP29 is expressed in a subset of basal-cell carcinoma of the skin, with the infiltrating carcinomas exhibiting the highest incidence of immunopositivity. (PMID:17012915)
• Results found that ERp29 comprises significant alpha-helical structure. (PMID:17073718)
• mutants of the D-domain of ERp29 prevent transport of a substrate protein (Pipe) in a manner consistent with the presence of a discrete, conserved peptide binding site in the D-domain (PMID:17296603)
• ERp29-activated polyomavirus perforates the physiologically relevant ER membrane, an event that likely initiates viral penetration. (PMID:17881435)
• lactating mammary glands were expressing ERp29 while the resting glands did not (PMID:18395818)
• there are two putative peptide binding sites of ERp29 and different processing activity of the human and Drosophila proteins in vivo does not stem from differences in peptide binding properties. (PMID:19084538)
• The level of ER protein 29 (ERp29) was shown to be decreased in the CK19-expressing BT549 breast cancer cell line. (PMID:19265690)
• This supports a new role for ERp29 as a chaperone that helps stabilize monomeric Cx43 to enable oligomerization to occur in the Golgi apparatus. (PMID:19321666)
• ERp29 is a novel regulator leading to cell growth arrest and cell transition from a proliferative to a quiescent state. (PMID:19770839)
• High expression of ERp29 inversely correlates to tumor progression. (PMID:20920593)
• Results identify ERp29 as a novel regulator of PERK and provide evidence for the role of ER resident factors in the regulation of chemotherapeutic efficacy. (PMID:21419175)
• Overexpression of ERp29 increases the radioresistance in nasopharyngeal carcinoma. (PMID:21479953)
• ERp29 is a 4PBA-regulated ER chaperone that regulates WT-CFTR biogenesis and can promote DeltaF508-CFTR trafficking in CF epithelial cells (PMID:21525008)
• Eurycomanone affects the transcription of Erp28, annexin 1 and prohibitin resulting in reduced expression of these proteins. (PMID:21903368)
• interplay between p38 phosphorylation and p58(IPK) upregulation has key roles in modulating ERp29-induced cell-growth arrest and survival (PMID:22064321)
• Suggest that ERp29 associates with radioresistance in nasopharyngeal carcinoma and may be potential biomarker for predicting response to radiotherapy. (PMID:22160175)
• ERp29 is a novel molecule that regulates MET and epithelial cell integrity in breast cancer cells. (PMID:22543584)
• S1P1 overexpression or ERp29 absence is related to the carcinogenesis and progression, and may be potential biomarkers for early detection of gallbladder adenocarcinoma. (PMID:23558074)
• Apoptosis related proteins ERp29, PRDX6 and MPO were differentially expressed in placentas of pregnant women with intrahepatic cholestasis and in healthy pregnant women. (PMID:24391750)
• overexpression of ERp29 may play a key role in apoptosis in HTR-8/SVneo cells via activation of p38, which may participate in the pathogenesis of intrahepatic cholestasis of pregnancy (PMID:24780196)
• CLIC4, ERp29, and Smac/DIABLO integrated into a novel panel based on cancer stem-like cells in association with metastasis stratify the prognostic risks of colorectal cancer. (PMID:24916695)
• ERp29 directs ENaC toward the Golgi, where it undergoes cleavage during its biogenesis and trafficking to the apical membrane. (PMID:24944201)
• our studies prove a novel function of ERp29\MGMT in cancer cell survival against radiation. Targeting ERp29\MGMT axis may be useful for providing better treatment efficacy in combination with radiotherapy in breast cancer. (PMID:26420420)
• Endoplasmic reticulum protein 29 attenuates CSE-induced ER stress and enhances cell viability and barrier integrity of RPE cells, and therefore may act as a protective mechanism for RPE survival and activity. (PMID:26431474)
• High ERP29 expression is associated with pancreatic ductal adenocarcinomas. (PMID:26887611)
• Results of further analyses by using a CNX mutant imply that ERp29 and ERp57 recognize the same domain of CNX, whereas the mode of interaction with CNX might be somewhat different between them. (PMID:28456374)
• The anti-aggregation peptide ReACp53 significantly decreased ERP29 expression and suppressed the chemoresistant effect. These findings highlight a role of ERP29 in the acquired chemoresistance of cancer cells expressing the aggregating p53 mutant Arg282Trp. (PMID:28534505)
• Downregulation of ERp29 was commonly found in GC tissues and highly correlated with more aggressive phenotypes and poorer prognosis. (PMID:28874138)
• ERp29 plays a critical role in protein folding, trafficking, and secretion, cell survival and apoptosis, and ER homeostasis. Though ubiquitously expressed, ERp29 is upregulated in response to ER stress and is found at higher levels in certain cell types such as secretory epithelial cells and neurons. It may be involved in neuroprotection in retinal and neurodegenerative diseases. Review. (PMID:29721972)
• ERp29 protected colorectal cancer (CRC) cells from endoplasmic reticulum stressmediated reduction of malignancy to promote metastasis and may be a potential target of medical intervention for CRC therapy. (PMID:30569094)
• ERp29-MSec interaction appeared to require the presence of other bridging protein(s), perhaps triggered by post-translational modification of ERp29 (PMID:30877198)
• Study established a novel regulatory network of LncRNA MEG3/miR483-3p/ERp29 in HCC which may be helpful in better understanding the effect of high glucose on poor prognosis of HCC. (PMID:31251997)
• role of ERp29 in ICP (PMID:31586554)
• ERp29 affects the migratory and invasive ability of human extravillous trophoblast HTR-8/SVneo cells via modulating the epithelial-mesenchymal transition. (PMID:31981282)
• ERp29 as a regulator of Insulin biosynthesis. (PMID:32433667)
• Role of a genetic variation in the microRNA-4421 binding site of ERP29 regarding risk of oropharynx cancer and prognosis. (PMID:33046743)
• Dimerization of ER-resident molecular chaperones mediated by ERp29. (PMID:33360823)
• [Silencing ERp29 promotes the invasiveness of human PCa cells in vitro: Molecular mechanisms]. (PMID:33377711)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Erp29	ENSMUSG00000029616
rattus_norvegicus	Erp29	ENSRNOG00000001348
drosophila_melanogaster	wbl	FBGN0004003

Protein

Protein identifiers

Endoplasmic reticulum resident protein 29 — P30040 (reviewed: P30040)

Alternative names: Endoplasmic reticulum resident protein 28, Endoplasmic reticulum resident protein 31

All UniProt accessions (4): P30040, F8VY02, F8W1G0, V9HW71

UniProt curated annotations — full annotation on UniProt →

Function. Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER.

Subunit / interactions. Homodimer. Part of a large chaperone multiprotein complex comprising CABP1, DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PPIB, SDF2L1, UGGT1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX.

Subcellular location. Endoplasmic reticulum lumen. Melanosome.

Tissue specificity. Ubiquitous. Mostly expressed in secretory tissues.

Isoforms (2)

UniProt ID	Names	Canonical?
P30040-1	1	yes
P30040-2	2

RefSeq proteins (2): NP_001029197, NP_006808* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011679	ERp29_C	Domain
IPR012883	ERp29_N	Domain
IPR016855	ERp29	Family
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR036356	ERp29_C_sf	Homologous_superfamily

Pfam: PF07749, PF07912

UniProt features (24 total): helix 13, strand 4, modified residue 2, splice variant 2, signal peptide 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5V8Z	X-RAY DIFFRACTION	2.1
2QC7	X-RAY DIFFRACTION	2.9
5V90	X-RAY DIFFRACTION	3.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P30040-F1	84.16	0.58

Functional residue map

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

Post-translational modifications (2): 64, 66

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 261 (showing top): MODULE_93, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, MODULE_151, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, AREB6_03, MORF_HDAC1, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOCC_CELL_SURFACE, GNF2_LYN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, CCATCCA_MIR432, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_PROTEIN_MATURATION, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOBP_APOPTOTIC_SIGNALING_PATHWAY

GO Biological Process (9): protein folding (GO:0006457), intracellular protein transport (GO:0006886), protein secretion (GO:0009306), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), protein unfolding (GO:0043335), positive regulation of MAPK cascade (GO:0043410), negative regulation of protein secretion (GO:0050709), regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235)

GO Molecular Function (3): protein homodimerization activity (GO:0042803), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), smooth endoplasmic reticulum (GO:0005790), cell surface (GO:0009986), membrane (GO:0016020), melanosome (GO:0042470)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
protein transport	2
gene expression	2
regulation of gene expression	2
endoplasmic reticulum	2
cellular anatomical structure	2
protein maturation	1
intracellular protein localization	1
intracellular transport	1
secretion by cell	1
establishment of protein localization to extracellular region	1
protein localization to extracellular region	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
protein secretion	1
regulation of protein secretion	1
negative regulation of protein transport	1
negative regulation of secretion by cell	1
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	1
regulation of response to endoplasmic reticulum stress	1
regulation of intrinsic apoptotic signaling pathway	1
identical protein binding	1
protein dimerization activity	1
protein binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular organelle lumen	1
pigment granule	1

Protein interactions and networks

STRING

986 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERP29	CYP2S1	Q96SQ9	888
ERP29	HSP90B1	P14625	882
ERP29	CALR	P27797	767
ERP29	CYP2F1	P24903	763
ERP29	HSPA4	P34932	742
ERP29	TXN	P10599	739
ERP29	HSPA5	P11021	698
ERP29	CANX	P27824	690
ERP29	PDIA4	P13667	682
ERP29	PDIA3	P30101	677
ERP29	P4HB	P07237	651
ERP29	CYP2B6	P20813	634
ERP29	ERP44	Q9BS26	627
ERP29	ERP27	Q96DN0	605
ERP29	DNAJB11	Q9UBS4	605

IntAct

119 interactions, top by confidence:

A	B	Type	Score
ERP29	GLB1L	psi-mi:“MI:0914”(association)	0.640
ERP29	HMG20B	psi-mi:“MI:0915”(physical association)	0.560
ERP29	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
SGTA	ERP29	psi-mi:“MI:0915”(physical association)	0.560
ERP29	SGTB	psi-mi:“MI:0915”(physical association)	0.560
ERP29	SLC38A7	psi-mi:“MI:0915”(physical association)	0.560
ERP29	TMEM86B	psi-mi:“MI:0915”(physical association)	0.560
ERP29	ADIPOQ	psi-mi:“MI:0915”(physical association)	0.560
ERP29	TSPO2	psi-mi:“MI:0915”(physical association)	0.560
ERP29	DESI1	psi-mi:“MI:0915”(physical association)	0.560
ERP29	SLC35B4	psi-mi:“MI:0915”(physical association)	0.560
ERP29	NRM	psi-mi:“MI:0915”(physical association)	0.560
ERP29	TMBIM6	psi-mi:“MI:0915”(physical association)	0.560
ERP29	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
ERP29	TTMP	psi-mi:“MI:0915”(physical association)	0.560
BMP10	ERP29	psi-mi:“MI:0915”(physical association)	0.560
HLA-DPB1	IDE	psi-mi:“MI:0914”(association)	0.530
ERP29	ARSB	psi-mi:“MI:0914”(association)	0.530
ERP29	GLP1R	psi-mi:“MI:0915”(physical association)	0.510
COL1A1	GOLIM4	psi-mi:“MI:0914”(association)	0.500
COL1A1	GOLIM4	psi-mi:“MI:0915”(physical association)	0.500
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
TTN	ERP29	psi-mi:“MI:0915”(physical association)	0.400
NFKBIZ	ERP29	psi-mi:“MI:0915”(physical association)	0.400
UBE2O	ERP29	psi-mi:“MI:0915”(physical association)	0.400
ADAMTS6	ERP29	psi-mi:“MI:0915”(physical association)	0.400
CENPF	ERP29	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (173): ERP29 (Affinity Capture-MS), HSPB1 (Co-fractionation), UBLCP1 (Co-fractionation), ERP29 (Affinity Capture-MS), ERP29 (Proximity Label-MS), ERP29 (Proximity Label-MS), ERP29 (Affinity Capture-MS), GLB1L (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), ARSB (Affinity Capture-MS), DERA (Affinity Capture-MS), EXOC5 (Affinity Capture-MS), ERP29 (Affinity Capture-MS), ERP29 (Affinity Capture-MS), ERP29 (Affinity Capture-RNA)

ESM2 similar proteins: A0A8M1N5Y4, A3KPF5, A8WG88, O22925, O80977, P08003, P11598, P13667, P30040, P30101, P32474, P38659, P52555, P52588, P57759, P81623, P81628, P93026, P93484, Q0E0I1, Q0JD42, Q0WL80, Q17688, Q2KIL5, Q43116, Q498R3, Q56ZQ3, Q5FVM7, Q5I0H9, Q5R5L3, Q5RDG4, Q5WA72, Q66GQ3, Q67IX6, Q6GNG3, Q6NRT6, Q6P5E4, Q7JW12, Q7XRB5, Q8IXB1

Diamond homologs: O44342, P30040, P52555, P57759, P81623, P81628, P81629, Q86IA3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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	7	15.1×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

692 predictions. Top by Δscore:

Variant	Effect	Δscore
12:112022134:T:A	acceptor_gain	1.0000
12:112022135:G:A	acceptor_gain	1.0000
12:112022141:T:TA	acceptor_gain	1.0000
12:112022145:CACA:C	acceptor_loss	1.0000
12:112022147:C:G	acceptor_gain	1.0000
12:112022147:CAG:C	acceptor_loss	1.0000
12:112022148:A:AG	acceptor_gain	1.0000
12:112022148:A:AT	acceptor_loss	1.0000
12:112022149:G:GC	acceptor_gain	1.0000
12:112022149:GA:G	acceptor_gain	1.0000
12:112022149:GAT:G	acceptor_gain	1.0000
12:112022149:GATT:G	acceptor_gain	1.0000
12:112022149:GATTA:G	acceptor_gain	1.0000
12:112013030:G:GA	donor_gain	0.9900
12:112013605:ACAAG:A	donor_loss	0.9900
12:112013606:CAAGG:C	donor_loss	0.9900
12:112013607:AAGG:A	donor_loss	0.9900
12:112013608:AG:A	donor_loss	0.9900
12:112013609:GG:G	donor_loss	0.9900
12:112013611:T:G	donor_loss	0.9900
12:112019891:TCAG:T	donor_loss	0.9900
12:112019893:AG:A	donor_loss	0.9900
12:112019894:GGTAT:G	donor_loss	0.9900
12:112019896:T:A	donor_loss	0.9900
12:112022146:A:AG	acceptor_gain	0.9900
12:112019750:CCTCA:C	acceptor_loss	0.9800
12:112019752:TCA:T	acceptor_loss	0.9800
12:112019754:A:T	acceptor_loss	0.9800
12:112019755:GGTC:G	acceptor_gain	0.9800
12:112013064:AGG:A	donor_gain	0.9700

AlphaMissense

1706 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:112019802:A:G	Y64C	0.999
12:112019801:T:C	Y64H	0.998
12:112019801:T:G	Y64D	0.998
12:112019877:C:A	A89E	0.998
12:112022534:G:C	R223P	0.998
12:112019788:G:C	K59N	0.997
12:112019788:G:T	K59N	0.997
12:112019828:T:C	F73L	0.997
12:112019830:C:A	F73L	0.997
12:112019830:C:G	F73L	0.997
12:112019841:C:A	A77D	0.997
12:112022169:C:A	N101K	0.997
12:112022169:C:G	N101K	0.997
12:112022300:T:C	L145P	0.997
12:112013574:G:C	G37R	0.996
12:112019781:T:C	L57S	0.996
12:112019784:T:A	V58E	0.996
12:112019790:T:C	F60S	0.996
12:112019793:A:T	D61V	0.996
12:112019801:T:A	Y64N	0.996
12:112019802:A:C	Y64S	0.996
12:112019811:G:A	G67D	0.996
12:112019811:G:T	G67V	0.996
12:112019829:T:C	F73S	0.996
12:112019876:G:C	A89P	0.996
12:112022546:T:C	L227P	0.996
12:112019778:T:A	V56D	0.995
12:112019786:A:G	K59E	0.995
12:112019794:C:A	D61E	0.995
12:112019794:C:G	D61E	0.995

dbSNP variants (sampled 300 via entrez): RS1000382410 (12:112016099 T>C,G), RS1000428872 (12:112022688 G>A), RS1000464548 (12:112014198 C>A,G), RS1000578344 (12:112013963 G>A,T), RS1000763529 (12:112021218 A>G), RS1001421122 (12:112015116 G>A), RS1001943069 (12:112014906 G>A,C,T), RS1002465724 (12:112011826 G>A), RS1002581594 (12:112011510 C>A), RS1002934875 (12:112020377 A>C), RS1002982078 (12:112020703 C>A), RS1003219226 (12:112023160 G>A), RS1003273205 (12:112018755 A>C), RS1003428291 (12:112012300 T>C), RS1003459607 (12:112023476 G>A)

Disease associations

OMIM: gene MIM:602287 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004131_54	Inflammatory bowel disease	2.000000e-09
GCST004132_84	Crohn’s disease	7.000000e-07
GCST005951_1	Body mass index	4.000000e-12
GCST005951_75	Body mass index	2.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066295 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.23	Kd	59.14	nM	CHEMBL5653589
7.23	ED50	59.14	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148339: Binding affinity to human ERP29 incubated for 45 mins by Kinobead based pull down assay	kd	0.0591	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, increases reaction, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Doxorubicin	increases expression, decreases response to substance, increases reaction	2
Fluorouracil	decreases expression	2
Quercetin	decreases expression, increases expression	2
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	increases expression	1
bisphenol A	affects cotreatment, increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, increases expression, decreases expression	1
decabromobiphenyl ether	increases expression	1
ferric ammonium citrate	increases expression, decreases reaction	1
arsenite	affects binding, increases reaction	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
microcystin RR	decreases expression	1
tanespimycin	affects cotreatment, decreases expression	1
7,3’-dihydroxy-4’-methoxyisoflavone	increases expression	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
eurycomanone	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
STA 9090	decreases expression	1
jinfukang	increases expression	1
VER 155008	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases 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
CHEMBL5651381	Binding	Binding affinity to human ERP29 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

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2WP	Abcam HEK293T ERP29 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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