EMP1

Summary

EMP1 (epithelial membrane protein 1, HGNC:3333) is a protein-coding gene on chromosome 12p13.1, encoding Epithelial membrane protein 1 (P54849).

Involved in apoptotic process and bleb assembly. Located in plasma membrane.

Source: NCBI Gene 2012 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_001423

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3333
Approved symbol	EMP1
Name	epithelial membrane protein 1
Location	12p13.1
Locus type	gene with protein product
Status	Approved
Aliases	TMP, CL-20
Ensembl gene	ENSG00000134531
Ensembl biotype	protein_coding
OMIM	602333
Entrez	2012

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000256951, ENST00000396301, ENST00000431267, ENST00000535134, ENST00000536383, ENST00000537612, ENST00000538364, ENST00000541935, ENST00000542289, ENST00000542474, ENST00000544053, ENST00000546357, ENST00000856772, ENST00000856773, ENST00000856775, ENST00000856776, ENST00000958271, ENST00000958272

RefSeq mRNA: 1 — MANE Select: NM_001423 NM_001423

CCDS: CCDS8660

Canonical transcript exons

ENST00000256951 — 5 exons

Exon	Start	End
ENSE00000822085	13211469	13211588
ENSE00001146234	13214534	13219941
ENSE00002283574	13196726	13196872
ENSE00003508750	13213479	13213575
ENSE00003544392	13213681	13213821

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 105.4666 / max 1964.0802, expressed in 1493 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124415	67.5229	1425
124414	37.9437	1386

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.95	gold quality
pharyngeal mucosa	UBERON:0000355	99.90	gold quality
oral cavity	UBERON:0000167	99.89	gold quality
amniotic fluid	UBERON:0000173	99.85	gold quality
tongue squamous epithelium	UBERON:0006919	99.74	gold quality
esophagus mucosa	UBERON:0002469	99.72	gold quality
cervix squamous epithelium	UBERON:0006922	99.72	gold quality
synovial joint	UBERON:0002217	99.69	gold quality
body of tongue	UBERON:0011876	99.69	gold quality
gingiva	UBERON:0001828	99.68	gold quality
squamous epithelium	UBERON:0006914	99.67	gold quality
esophagus squamous epithelium	UBERON:0006920	99.65	gold quality
gingival epithelium	UBERON:0001949	99.64	gold quality
buccal mucosa cell	CL:0002336	99.59	gold quality
epithelium of esophagus	UBERON:0001976	99.55	gold quality
skin of hip	UBERON:0001554	99.45	gold quality
cervix epithelium	UBERON:0004801	99.45	gold quality
stromal cell of endometrium	CL:0002255	99.44	gold quality
vena cava	UBERON:0004087	99.42	gold quality
penis	UBERON:0000989	99.37	gold quality
tongue	UBERON:0001723	99.31	gold quality
mammalian vulva	UBERON:0000997	99.30	gold quality
vagina	UBERON:0000996	99.24	gold quality
saphenous vein	UBERON:0007318	99.23	gold quality
mucosa of urinary bladder	UBERON:0001259	99.22	gold quality
upper leg skin	UBERON:0004262	99.21	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.19	gold quality
omental fat pad	UBERON:0010414	99.17	gold quality
adipose tissue	UBERON:0001013	99.16	gold quality
peritoneum	UBERON:0002358	99.15	gold quality

Single-cell (SCXA)

Detected in 24 experiment(s), a significant marker in 21.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	9502.37
E-HCAD-1	yes	6723.76
E-GEOD-130148	yes	6151.67
E-GEOD-75688	yes	305.10
E-GEOD-81608	yes	119.11
E-MTAB-6701	yes	118.38
E-MTAB-8142	yes	84.36
E-MTAB-10287	yes	68.94
E-HCAD-10	yes	34.92
E-CURD-46	yes	26.44
E-MTAB-8410	yes	26.05
E-GEOD-84465	yes	22.41
E-MTAB-6678	yes	13.40
E-MTAB-5061	yes	11.28
E-GEOD-135922	yes	9.51

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, ESR1, EZH2, MYC

miRNA regulators (miRDB)

129 targeting EMP1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-340-5P	100.00	72.50	4437
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-3925-3P	100.00	69.95	1237
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 34)

• EMP-1 gene has some relationship with carcinogenesis of esophagus. (PMID:12451984)
• Overexpression of human EMP-1 gene can inhibit the proliferation of EC9706 cell with S phase arrested and G1 phase prolonged. EMP-1 may be one of regulators involved in cell signaling, cell communication and adhesion regulators. (PMID:12632483)
• role of the adhesion molecule, EMP-1, as a biomarker of gefitinib clinical resistance, and further suggests a probable cross-talk between this molecule and the epidermal growth factor receptor signaling pathway (PMID:16087880)
• We found expression of EMP-1 mRNA was higher in intractable epilepsy per the gene scanning, EMP-1 immunoreactivity was apparent in neurons of IE patients but not in the control group, and the expression of EMP-1 and EGFR occurred in the same neuron. (PMID:19288191)
• Decreased expression of EMP1 was significantly correlated with clinical stage (p=0.002) and lymph node metastasis (p=0.044) of patients with oral squamous cell carcinoma and may be a tumor suppressor. (PMID:20980531)
• The EMP1 gene may be implicated in the pathophysiology of MDD in the Japanese population. (PMID:21146590)
• Overexpression of EMP1 in spinal chondrocytes promotes cell proliferation and survival, alters cell morphology and cell cycle, reduces cell condensation, and inhibits cell hypertrophy. (PMID:21538935)
• EMP-1 was significantly up-regulated in NSCLC patients. (PMID:23271282)
• EMP1 could be a biomarker for aberrant epithelial remodelling and metaplasia in chronic inflammatory upper airway mucosa (PMID:24033346)
• EMP1 may play important roles as a negative regulator to nasopharyngeal cancer cell. (PMID:24292952)
• EMP1 expression decreased in prostate cancer and correlated significantly T stages, lymph node metastasis, clinic stage, and Gleason score (PMID:24338711)
• EMP1 may play important roles as a negative regulator to breast cancer MCF-7 cell by regulating the expression of caspase 9 and VEGFC protein. (PMID:24402572)
• EMP1 as an independent predictor for poor outcome in precursor-B ALL (BCP-ALL) (P=0.004, hazard ratio: 2.36 (1.31-4.25). (PMID:24625531)
• Low EMP1 expression in colorectal cancer is associated with increased disease severity, suggesting that EMP1 may be a negative regulator of colorectal cancer (PMID:24744589)
• Results demonstrated that EMP1 protein levels were significantly reduced in gastric carcinoma and were associated with tumor invasion, lymph node metastasis, clinical stage and cell differentiation. (PMID:24920167)
• SOS1 and Ras regulate epithelial tight junction formation in the human airway through EMP1.EMP1 localises to tight junctions and is essential for their formation and function. (PMID:25394671)
• The studies implicating GAS3 protein family (EMP1, EMP2, EMP3 and PMP22) in cancer pathogenesis as well as probe the structural similarities between the family members were highlighted. (PMID:27279240)
• Therefore, EMP1 is a tumor suppressor in laryngeal carcinoma. Boosting EMP1 expression in laryngeal carcinoma initiates multiple anticancer phenotypes and thus presents a promising therapeutic strategy for laryngeal cancer. (PMID:27909719)
• The abnormal expression of EMP-1 may be associated with progression of laryngeal carcinoma (LC) and the gene may act as a prognostic marker for LC. (PMID:28779068)
• upregulation of EMP1 significantly increases cancer cell migration that leads to tumor metastasis (PMID:29867202)
• EMP1 regulates cell proliferation, migration, and stemness in gliomas through PI3K-AKT signaling and CD44. (PMID:31111534)
• High EMP1 expression is associated with glioblastoma progression. (PMID:31233190)
• Circ100284 promotes invasion and migration of osteosarcoma cells by down-regulating PTEN and EMP1. (PMID:32633341)
• EMP1 promotes the malignant progression of osteosarcoma through the IRX2/MMP9 axis. (PMID:32716150)
• MIR31HG exhibits oncogenic property and acts as a sponge for miR-361-3p in cervical carcinoma. (PMID:32819595)
• Epithelial Membrane Protein 2 Suppresses Non-Small Cell Lung Cancer Cell Growth by Inhibition of MAPK Pathway. (PMID:33799364)
• Cell-to-cell contact-mediated regulation of tumor behavior in the tumor microenvironment. (PMID:34420253)
• Serum epithelial membrane protein 1 serves as a feasible biomarker in extrahepatic cholangiocarcinoma. (PMID:34569869)
• Expression of epithelial membrane protein (EMP) 1, EMP 2, and EMP 3 in thyroid cancer. (PMID:34617578)
• Epithelial Membrane Protein 1 Promotes Sensitivity to RSL3-Induced Ferroptosis and Intensifies Gefitinib Resistance in Head and Neck Cancer. (PMID:35432717)
• Loss of EMP1 promotes the metastasis of human bladder cancer cells by promoting migration and conferring resistance to ferroptosis through activation of PPAR gamma signaling. (PMID:35850179)
• Identification of EMP1 as a critical gene for cisplatin resistance in ovarian cancer by using integrated bioinformatics analysis. (PMID:36708070)
• Key Molecules in Bladder Cancer Affect Patient Prognosis and Immunotherapy Efficacy: Further Exploration for CNTN1 and EMP1. (PMID:37437228)
• EMP1 correlated with cancer progression and immune characteristics in pan-cancer and ovarian cancer. (PMID:38743077)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	emp1	ENSDARG00000069632
mus_musculus	Emp1	ENSMUSG00000030208
rattus_norvegicus	Emp1	ENSRNOG00000008676

Paralogs (10): LIM2 (ENSG00000105370), NKG7 (ENSG00000105374), PMP22 (ENSG00000109099), GSG1 (ENSG00000111305), EMP3 (ENSG00000142227), CLDND2 (ENSG00000160318), GSG1L (ENSG00000169181), TMEM202 (ENSG00000187806), EMP2 (ENSG00000213853), GSG1L2 (ENSG00000214978)

Protein

Protein identifiers

Epithelial membrane protein 1 — P54849 (reviewed: P54849)

Alternative names: CL-20, Protein B4B, Tumor-associated membrane protein

All UniProt accessions (5): P54849, F5GYV0, F5H2P5, F5H397, J3KQX4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the PMP-22/EMP/MP20 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P54849-1	1	yes
P54849-2	2

RefSeq proteins (1): NP_001414* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003932	EMP_1	Family
IPR004031	PMP22/EMP/MP20/Claudin	Family
IPR004032	PMP22_EMP_MP20	Family
IPR050579	PMP-22/EMP/MP20-like	Family

Pfam: PF00822

UniProt features (9 total): transmembrane region 4, glycosylation site 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P54849-F1	90.68	0.65

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 (2): 43, 46

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 408 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, MODULE_52, FREAC2_01, YAGI_AML_WITH_INV_16_TRANSLOCATION, GEORGES_CELL_CYCLE_MIR192_TARGETS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, RACCACAR_AML_Q6, FOXO1_01, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, KOINUMA_COLON_CANCER_MSI_DN, GOLDRATH_ANTIGEN_RESPONSE, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_SUSTAINDED_IN_ERYTHROCYTE_UP, MODULE_118

GO Biological Process (3): apoptotic process (GO:0006915), epidermis development (GO:0008544), bleb assembly (GO:0032060)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
tissue development	1
plasma membrane bounded cell projection assembly	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EMP1	PTH	P01270	840
EMP1	FGF23	Q9GZV9	770
EMP1	PHEX	P78562	685
EMP1	SCARB1	Q8WTV0	685
EMP1	SCARB2	Q14108	683
EMP1	CD36	P16671	680
EMP1	SLC34A1	Q06495	667
EMP1	SLC34A3	Q8N130	644
EMP1	KRTAP1-3	Q8IUG1	641
EMP1	MYO1A	Q9UBC5	633
EMP1	CYP27B1	O15528	620
EMP1	EPOR	P19235	610
EMP1	LIM2	P55344	604
EMP1	VCAM1	P19320	601
EMP1	NAT9	Q9BTE0	549

IntAct

191 interactions, top by confidence:

A	B	Type	Score
SMIM3	EMP1	psi-mi:“MI:0915”(physical association)	0.720
EMP1	SMIM3	psi-mi:“MI:0915”(physical association)	0.720
EMP1	SYNE4	psi-mi:“MI:0915”(physical association)	0.560
EMP1	CEP70	psi-mi:“MI:0915”(physical association)	0.560
SYNE4	EMP1	psi-mi:“MI:0915”(physical association)	0.560
EMP1	MS4A7	psi-mi:“MI:0915”(physical association)	0.560
TSPO2	EMP1	psi-mi:“MI:0915”(physical association)	0.560
EMP1	LHFPL5	psi-mi:“MI:0915”(physical association)	0.560
EMP1	SPACA1	psi-mi:“MI:0915”(physical association)	0.560
EMP1	TLCD4	psi-mi:“MI:0915”(physical association)	0.560
EMP1	GPR42	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0B	EMP1	psi-mi:“MI:0915”(physical association)	0.560
EMP1	TBXA2R	psi-mi:“MI:0915”(physical association)	0.560
EMP1	ANKS6	psi-mi:“MI:0915”(physical association)	0.560
EMP1	EDA	psi-mi:“MI:0915”(physical association)	0.560
CXCR2	EMP1	psi-mi:“MI:0915”(physical association)	0.560
EMP1	PLEKHB2	psi-mi:“MI:0915”(physical association)	0.560
EMP1	LSMEM2	psi-mi:“MI:0915”(physical association)	0.560
EMP1	JPH1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (63): CEP70 (Two-hybrid), SMIM3 (Two-hybrid), SYNE4 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid), EMP1 (Two-hybrid)

ESM2 similar proteins: A5A6N6, D3ZQJ0, F1QIK8, O09117, O35912, O88662, P19075, P47801, P54848, P54849, P54850, P54851, P54852, P56748, Q12999, Q16563, Q2NKU9, Q32KP1, Q3ZBY0, Q4KL25, Q58DR6, Q5PPI7, Q5R9S6, Q5RAI2, Q5RAP8, Q5RCY3, Q5U1V9, Q5XHG6, Q66HH2, Q66IV3, Q6DHB5, Q6GPN9, Q6P742, Q6Y1E2, Q6ZUX7, Q7ZUB3, Q7ZWW7, Q7ZZL8, Q8BGA2, Q8BI08

Diamond homologs: A5A6N6, F1QIK8, O35912, O88662, P16646, P25094, P47801, P54848, P54849, P54850, P54851, P54852, Q01453, Q2NKU9, Q58DR6, Q5RAZ3, Q5RCY3, Q66HH2, Q6WL85, Q9QYW5, Q9TQZ3, P20274, Q2KIY2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 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
cell surface receptor signaling pathway	7	9.2×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

481 predictions. Top by Δscore:

Variant	Effect	Δscore
12:13211464:TTCA:T	acceptor_loss	1.0000
12:13211466:CAG:C	acceptor_loss	1.0000
12:13211467:A:AG	acceptor_gain	1.0000
12:13211468:G:GG	acceptor_gain	1.0000
12:13211468:GA:G	acceptor_gain	1.0000
12:13211468:GAA:G	acceptor_gain	1.0000
12:13211589:G:GG	donor_gain	1.0000
12:13213665:C:CA	acceptor_gain	1.0000
12:13213670:T:TA	acceptor_gain	1.0000
12:13213672:T:TA	acceptor_gain	1.0000
12:13213676:TACA:T	acceptor_loss	1.0000
12:13213677:ACAG:A	acceptor_loss	1.0000
12:13213678:CA:C	acceptor_loss	1.0000
12:13213679:A:AG	acceptor_gain	1.0000
12:13213679:A:G	acceptor_loss	1.0000
12:13213679:AGAT:A	acceptor_gain	1.0000
12:13213680:G:GG	acceptor_gain	1.0000
12:13213680:G:GT	acceptor_loss	1.0000
12:13213680:GA:G	acceptor_gain	1.0000
12:13213680:GAT:G	acceptor_gain	1.0000
12:13213680:GATG:G	acceptor_gain	1.0000
12:13213680:GATGC:G	acceptor_gain	1.0000
12:13213817:GTGCT:G	donor_gain	1.0000
12:13213818:TGCT:T	donor_gain	1.0000
12:13213819:GCT:G	donor_gain	1.0000
12:13213819:GCTG:G	donor_gain	1.0000
12:13213820:CT:C	donor_gain	1.0000
12:13213820:CTG:C	donor_loss	1.0000
12:13213822:G:GG	donor_gain	1.0000
12:13213822:GTG:G	donor_loss	1.0000

AlphaMissense

1029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:13213523:G:C	W41C	0.998
12:13213523:G:T	W41C	0.998
12:13213521:T:A	W41R	0.997
12:13213521:T:C	W41R	0.997
12:13213749:T:C	F82L	0.997
12:13213751:C:A	F82L	0.997
12:13213751:C:G	F82L	0.997
12:13213515:G:C	G39R	0.996
12:13213788:T:C	F95L	0.996
12:13213790:C:A	F95L	0.996
12:13213790:C:G	F95L	0.996
12:13214629:T:A	W138R	0.996
12:13214629:T:C	W138R	0.996
12:13214635:T:C	C140R	0.996
12:13214647:A:C	S144R	0.996
12:13214649:C:A	S144R	0.996
12:13214649:C:G	S144R	0.996
12:13213482:T:A	W28R	0.995
12:13213482:T:C	W28R	0.995
12:13213515:G:T	G39C	0.995
12:13214539:T:C	C108R	0.995
12:13214637:C:G	C140W	0.995
12:13213717:C:T	S71F	0.994
12:13213516:G:T	G39V	0.993
12:13213519:T:A	L40H	0.993
12:13213762:T:C	L86P	0.993
12:13213801:G:A	G99E	0.993
12:13213820:C:G	C105W	0.993
12:13213821:T:A	W106R	0.993
12:13213821:T:C	W106R	0.993

dbSNP variants (sampled 300 via entrez): RS1000016134 (12:13212404 A>G), RS1000022865 (12:13198265 CTTTTT>C,CT,CTTTT), RS1000038649 (12:13212795 A>G), RS1000154151 (12:13212992 A>G), RS1000291637 (12:13201304 A>G), RS1000297565 (12:13211391 G>A), RS1000442674 (12:13194740 G>A), RS1000443827 (12:13217789 A>G), RS1000626029 (12:13202618 G>A), RS1001184697 (12:13196178 G>A,C,T), RS1001260598 (12:13206122 G>A), RS1001335253 (12:13198584 A>G), RS1001612456 (12:13209719 G>A), RS1001637969 (12:13196838 C>G,T), RS1001755076 (12:13204064 A>C,G)

Disease associations

OMIM: gene MIM:602333 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002097_13	Coronary artery calcification	9.000000e-06
GCST005988_10	Serum albumin levels	1.000000e-08
GCST006288_10	Heel bone mineral density	5.000000e-08
GCST006288_11	Heel bone mineral density	3.000000e-41
GCST006288_196	Heel bone mineral density	7.000000e-13
GCST006288_387	Heel bone mineral density	7.000000e-30
GCST006979_887	Heel bone mineral density	7.000000e-18
GCST006979_888	Heel bone mineral density	5.000000e-118
GCST007644_6	Estimated glomerular filtration rate after 1 year in renal transplantation (donor effect)	3.000000e-07
GCST009304_9	Degraded stimulus continuous performance test score	4.000000e-06
GCST009524_118	Household income (MTAG)	2.000000e-08
GCST010002_209	Refractive error	4.000000e-34

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0009270	heel bone mineral density
EFO:0005199	renal transplant outcome measurement
EFO:0007892	donor genotype effect measurement
EFO:0007636	attention function measurement
EFO:0009695	household income

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	5
Cadmium Chloride	decreases expression, increases abundance, increases expression	4
trichostatin A	affects cotreatment, increases expression, decreases expression	3
sodium arsenite	increases stability, decreases expression	2
monomethylarsonous acid	increases expression	2
(+)-JQ1 compound	decreases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Cadmium	decreases expression, increases abundance, increases expression	2
Estradiol	affects reaction, decreases expression, affects expression	2
Quercetin	affects cotreatment, increases expression	2
Silicon Dioxide	increases expression	2
Testosterone	affects cotreatment, increases expression, decreases expression	2
Tretinoin	increases expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	affects expression, increases expression	2
Asbestos, Crocidolite	increases expression	2
aristolochic acid I	increases expression	1
3,19-(2-bromobenzylidene)andrographolide	decreases response to substance, increases expression	1
4-oxoretinoic acid	increases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
lead acetate	increases expression	1
sodium arsenate	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
hydroxyhydroquinone	increases expression	1
beta-lapachone	increases expression	1
methylparaben	increases expression	1
cobaltous chloride	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1R7	Abcam HeLa EMP1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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