NAPSA

Summary

NAPSA (napsin A aspartic peptidase, HGNC:13395) is a protein-coding gene on chromosome 19q13.33, encoding Napsin-A (O96009). May be involved in processing of pneumocyte surfactant precursors. It is a common-essential gene (DepMap: required in 96.8% of cancer cell lines).

This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma.

Source: NCBI Gene 9476 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 147 total
• Cancer dependency (DepMap): dependent in 96.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_004851

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13395
Approved symbol	NAPSA
Name	napsin A aspartic peptidase
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	NAP1, NAPA, Kdap, KAP
Ensembl gene	ENSG00000131400
Ensembl biotype	protein_coding
OMIM	605631
Entrez	9476

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 11 protein_coding, 5 retained_intron, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000253719, ENST00000596653, ENST00000597378, ENST00000598044, ENST00000598915, ENST00000599181, ENST00000599233, ENST00000706837, ENST00000706838, ENST00000706839, ENST00000706840, ENST00000706841, ENST00000852686, ENST00000852687, ENST00000852688, ENST00000852689, ENST00000852690, ENST00000852691, ENST00000967940, ENST00000967941, ENST00000967942

RefSeq mRNA: 1 — MANE Select: NM_004851 NM_004851

CCDS: CCDS12794

Canonical transcript exons

ENST00000253719 — 9 exons

Exon	Start	End
ENSE00000900326	50362172	50362313
ENSE00001125038	50361969	50362092
ENSE00002499763	50359011	50359109
ENSE00002981188	50358477	50358780
ENSE00003522483	50361663	50361781
ENSE00003848511	50365539	50365639
ENSE00003997128	50360941	50361140
ENSE00003997130	50359503	50359647
ENSE00003997131	50359740	50359862

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 99.78.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0930 / max 565.7122, expressed in 32 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182157	1.0930	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower lobe of lung	UBERON:0008949	99.78	gold quality
upper lobe of lung	UBERON:0008948	98.00	gold quality
upper lobe of left lung	UBERON:0008952	97.88	gold quality
visceral pleura	UBERON:0002401	96.90	gold quality
kidney epithelium	UBERON:0004819	96.77	gold quality
lung	UBERON:0002048	96.21	gold quality
right lung	UBERON:0002167	95.89	gold quality
adult mammalian kidney	UBERON:0000082	93.53	gold quality
adult organism	UBERON:0007023	91.43	gold quality
metanephros cortex	UBERON:0010533	89.24	gold quality
kidney	UBERON:0002113	87.92	gold quality
cortex of kidney	UBERON:0001225	81.76	gold quality
metanephros	UBERON:0000081	80.30	gold quality
pancreatic ductal cell	CL:0002079	80.14	silver quality
nasal cavity epithelium	UBERON:0005384	80.12	gold quality
ileal mucosa	UBERON:0000331	79.49	silver quality
upper arm skin	UBERON:0004263	78.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.40	gold quality
right uterine tube	UBERON:0001302	77.55	gold quality
epithelial cell of pancreas	CL:0000083	76.59	gold quality
heart right ventricle	UBERON:0002080	75.92	gold quality
mucosa of transverse colon	UBERON:0004991	75.28	gold quality
cardiac muscle of right atrium	UBERON:0003379	75.10	gold quality
left ventricle myocardium	UBERON:0006566	74.97	gold quality
caput epididymis	UBERON:0004358	73.18	gold quality
myocardium	UBERON:0002349	72.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.46	gold quality
right lobe of thyroid gland	UBERON:0001119	72.13	gold quality
tibialis anterior	UBERON:0001385	72.09	silver quality
granulocyte	CL:0000094	71.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-15	yes	6998.19
E-GEOD-130148	yes	4584.29
E-MTAB-6653	yes	4460.12
E-MTAB-6308	yes	4391.01
E-CURD-126	yes	3269.74
E-HCAD-1	yes	3124.80
E-MTAB-10662	yes	1644.74
E-GEOD-86618	yes	1557.13
E-MTAB-8530	yes	837.12
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• Pronapsin A gene expression in normal and malignant human lung and mononuclear blood cells (PMID:12151090)
• Napsin is a promising marker for the diagnosis of primary lung adenocarcinoma. (PMID:12698189)
• role in the N- and C-terminal processing of pro-surfactant protein-B in type-II pneumocytes (PMID:13129928)
• NAPSA suppresses tumor growth independent of its catalytic activity. (PMID:18195689)
• A general defect in napsin A or cathepsin H expression or activity was not the specific cause for abnormal surfactant accumulation in juvenile pulmonary alveolar proteinosis (PMID:18216060)
• The combined use of napsin A and thyroid transcription factor-1 results in improved sensitivity and specificity for identifying pulmonary adenocarcinoma in primary lung tumors and in a metastatic setting. (PMID:19740516)
• Although TTF-1 had a higher sensitivity, napsin-A was useful as a surrogate marker when encountering a poorly differentiated lung adenocarcinoma. (PMID:20830690)
• Immunohistochemical staining using a combination of TTF-1, napsin A, p63, and CK5/6 allows subclassification of poorly differentiated non-small cell carcinomas on small lung biopsies in most cases. (PMID:21164283)
• in combination with thyroid transcription factor-1-positive immunostaining helps in differentiating primary lung adenocarcinoma from metastatic carcinoma in the lung (PMID:21464700)
• Data suggest that the panels of Napsin A, TTF-1, and p63 were effective in identifying histologic type in NSCLC, and that a combination of either Napsin A and p63 or TTF-1 and p63 should be chosen, depending on morphology. (PMID:21717589)
• Diagnostic utility of PAX8, TTF-1 and napsin A for discriminating metastatic carcinoma from primary adenocarcinoma of the lung. (PMID:21838611)
• napsin A is a useful marker that can assist in the diagnosis of both lung adenocarcinomas and renal cell carcinomas[review] (PMID:22156835)
• None of the 90 squamous cell carcinomas of the lung exhibited napsin A positivity in the neoplastic cells; however, strong napsin A reactivity was observed in hyperplastic type II pneumocytes and in intra-alveolar macrophages entrapped within the tumor. (PMID:22198009)
• Nap-A was more specific than thyroid transcription factor 1 for primary lung adenocarcinoma versus all tumors, excluding kidney, independent of tumor type (PMID:22288963)
• absence of napsin A was an independent prognostic factor for reduced survival time in lung adenocarcinoma (PMID:22418245)
• a useful immunohistochemical marker for differentiation of lung squamous cell carcinoma and adenocarcinoma from other subtypes (PMID:22495379)
• Napsin-A seems to be a useful marker in classifying primary pulmonary neoplasm as adenocarcinomas. (PMID:22914608)
• investigation of expression of NAPSA (a potential diagnostic marker) in lungs/respiratory mucosa of subjects with pulmonary sclerosing hemangioma (PMID:23194051)
• Napsin B was duplicated from napsin A during the early stages of primate evolution, and the subsequent loss of napsin B function during primate evolution reflected ongoing human-specific napsin B pseudogenization (PMID:23333608)
• Mucin-producing neoplasms of the lung infrequently express napsin A, suggesting that immunohistochemical assessment of napsin A may have limited diagnostic usefulness for distinguishing primary and metastatic mucinous adenocarcinomas involving the lung. (PMID:23355200)
• PAX2 and napsin A have high specificity but low sensitivity and only have limited value in the differential diagnosis of mesotheliomas and renal cell carcinomas (PMID:23503645)
• A minority of anaplastic and poorly differentiated micropapillary pattern thyroid carcinomas are napsin A positive. (PMID:23681073)
• 24 cases each of pulmonary and esophageal adenocarcinoma were stained with TTF-1, napsin A, CDX2, 34betaE12, N-cadherin, and IMP3 in an attempt to find an optimal panel for differentiation. IMP3, CDX2, and N-cadherin are superior to either TTF-1 or napsin A. (PMID:23899066)
• Napsin A is a sensitive and specific biomarker of the clear cell histotype in endometrial carcinomas and accordingly may have diagnostic utility in their histotyping. (PMID:24145649)
• Napsin A as a marker of clear cell ovarian carcinoma. (PMID:24191930)
• TTF-1 is more sensitive than napsin for detection of lung sarcomatoid carcinoma, and no cases were positive for napsin but negative for TTF-1 (PMID:24331839)
• These data suggest that napsin A may be a useful marker for identifying metastatic adenocarcinomas of pulmonary origin (PMID:24479710)
• napsin A is another sensitive and specific marker for distinguishing ovarian clear cell tumors (especially adenocarcinomas) from other ovarian tumors (PMID:24721826)
• Our study showed that napsin A is an extremely sensitive (100%) marker of ovarian clear cell carcinomas (PMID:25389337)
• Data indicate that polyclonal but not monoclonal napsin A antibody has a virtually universal nonspecific labeling in mucinous adenocarcinomas of various sites. (PMID:25521803)
• In diagnosis of ovarian clear cell carcinoma, Napsin A is specific but of intermediate sensitivity. (PMID:25551297)
• Napsin A is expressed in a broad spectrum of renal neoplasms. (PMID:25889632)
• Napsin A is frequently expressed in ovarian and endometrial clear cell carcinomas. (PMID:25971546)
• Low expression levels of NAPSA is associated with lung adenocarcinoma. (PMID:25982999)
• Combining HNF-1beta and napsin A may distinguish clear cell carcinoma from high-grade serous carcinoma, endometrioid adenocarcinoma and metastatic Krukenberg tumors. (PMID:26339401)
• napsin A is aberrantly expressed in a subset of lymphomas (PMID:26400099)
• it may be useful to combine NAPA and TTF-1 for increased sensitivity in lung cancer diagnostics. There is no substantial difference between monoclonal and polyclonal p40 and between different NAPA clones, whereas there is a difference between the TTF-1 clones 8G7G3/1 and SPT24 (PMID:26447895)
• CK7, TTF-1 and napsin A are predominantly expressed in primary lung adenocarcinoma patients, with CDX-2 being inconsistently expressed. (PMID:26469326)
• The immunocytochemical expressions of napsin A and p40 in imprint cytology seem to be of great utility for the accurate histological differentiation of lung cancers. (PMID:26696549)
• Napsin-A, and Desmocollin-3 were sensitive and specific markers for the diagnosis of AC and SCC, respectively. Both markers allowed classification of 54/60 cases into either AC or SCC. (PMID:26710975)

Cross-species orthologs

17 orthologs

Organism	Symbol	Gene ID
danio_rerio	napsa	ENSDARG00000009313
mus_musculus	Napsa	ENSMUSG00000002204
rattus_norvegicus	Napsa	ENSRNOG00000019854
drosophila_melanogaster	Bace	FBGN0032049
drosophila_melanogaster	CG6508	FBGN0032303
drosophila_melanogaster	CG17134	FBGN0032304
drosophila_melanogaster	CG33128	FBGN0053128
caenorhabditis_elegans		WBGENE00000214
caenorhabditis_elegans		WBGENE00000218
caenorhabditis_elegans		WBGENE00012681
caenorhabditis_elegans		WBGENE00012682
caenorhabditis_elegans		WBGENE00012683
caenorhabditis_elegans		WBGENE00013973
caenorhabditis_elegans		WBGENE00017678
caenorhabditis_elegans		WBGENE00019104
caenorhabditis_elegans		WBGENE00019105
caenorhabditis_elegans		WBGENE00077655

Paralogs (9): PGC (ENSG00000096088), CTSD (ENSG00000117984), REN (ENSG00000143839), BACE2 (ENSG00000182240), BACE1 (ENSG00000186318), CTSE (ENSG00000196188), PGA4 (ENSG00000229183), PGA3 (ENSG00000229859), PGA5 (ENSG00000256713)

Protein

Protein identifiers

Napsin-A — O96009 (reviewed: O96009)

Alternative names: Aspartyl protease 4, Napsin-1, TA01/TA02

All UniProt accessions (3): A0A0B4J2A8, M0QXC5, O96009

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in processing of pneumocyte surfactant precursors.

Subcellular location. Secreted.

Tissue specificity. Expressed predominantly in adult lung (type II pneumocytes) and kidney and in fetal lung. Low levels in adult spleen and very low levels in peripheral blood leukocytes.

Similarity. Belongs to the peptidase A1 family.

RefSeq proteins (1): NP_004842* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001461	Aspartic_peptidase_A1	Family
IPR001969	Aspartic_peptidase_AS	Active_site
IPR021109	Peptidase_aspartic_dom_sf	Homologous_superfamily
IPR033121	PEPTIDASE_A1	Domain

Pfam: PF00026

Enzyme classification (BRENDA):

• EC 3.4.23.B1 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

UniProt features (14 total): disulfide bond 3, glycosylation site 3, sequence variant 2, active site 2, signal peptide 1, propeptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O96009-F1	82.49	0.62

Functional residue map

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

Catalytic / active sites (2): 96; 283

Disulfide bonds (3): 274–278, 317–354, 109–116

Glycosylation sites (3): 90, 133, 336

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5683826	Surfactant metabolism
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 398 (showing top): MODULE_172, GOBP_APICAL_PROTEIN_LOCALIZATION, MODY_HIPPOCAMPUS_POSTNATAL, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_SECRETORY_GRANULE, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MEMBRANE_FUSION, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, KEGG_LYSOSOME, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_NEUROGENESIS, CREBP1_Q2, RACCACAR_AML_Q6

GO Biological Process (3): proteolysis (GO:0006508), membrane protein proteolysis (GO:0033619), surfactant homeostasis (GO:0043129)

GO Molecular Function (5): endopeptidase activity (GO:0004175), aspartic-type endopeptidase activity (GO:0004190), peptidase activity (GO:0008233), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (6): obsolete extracellular space (GO:0005615), lysosome (GO:0005764), extracellular exosome (GO:0070062), alveolar lamellar body (GO:0097208), multivesicular body lumen (GO:0097486), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein metabolic process	1
proteolysis	1
multicellular organismal-level chemical homeostasis	1
peptidase activity	1
endopeptidase activity	1
aspartic-type peptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
lytic vacuole	1
extracellular vesicle	1
lamellar body	1
multivesicular body	1
late endosome lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

929 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAPSA	KRT7	P08729	881
NAPSA	NKX2-1	P43699	874
NAPSA	KRT20	P35900	822
NAPSA	LIAT1	Q6ZQX7	815
NAPSA	KRT5	P13647	793
NAPSA	PAX8	Q06710	720
NAPSA	CDX2	Q99626	720
NAPSA	HNF1B	P35680	702
NAPSA	ALK	Q9UM73	697
NAPSA	SYP	P08247	644
NAPSA	SFTPB	P07988	615
NAPSA	CALB2	P22676	606
NAPSA	CEACAM5	P06731	597
NAPSA	EGFR	P00533	596
NAPSA	WT1	P19544	596

IntAct

12 interactions, top by confidence:

A	B	Type	Score
LCE3A	NAPSA	psi-mi:“MI:0915”(physical association)	0.560
NAPSA	LCE1B	psi-mi:“MI:0915”(physical association)	0.560
NAPSA	CTSD	psi-mi:“MI:0914”(association)	0.530
NAPSA	YWHAZ	psi-mi:“MI:0915”(physical association)	0.400
NCAPD3	NDUFS8	psi-mi:“MI:0914”(association)	0.350
LCE1B	NAPSA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): ADAMTS1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), RDH13 (Affinity Capture-MS), GRN (Affinity Capture-MS), CTSD (Affinity Capture-MS), GRN (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), CTSD (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), NAPSA (Affinity Capture-MS), LCE1B (Two-hybrid), GRN (Affinity Capture-MS), CTSD (Affinity Capture-MS), TAZ (Affinity Capture-MS), HSPA5 (Affinity Capture-MS)

ESM2 similar proteins: O09043, O93428, O96009, P00794, P00795, P00796, P00797, P04073, P06281, P07339, P08424, P14091, P16228, P16476, P18242, P18276, P24268, P25796, P27823, P40782, P42210, P42211, P43159, P52115, P60016, P70269, P80209, P83493, P83495, Q05744, Q18DC8, Q18DC9, Q21966, Q28057, Q28389, Q28755, Q29078, Q29079, Q29432, Q4LAL9

Diamond homologs: A0A509AI82, A0A509AWX2, C5FS55, D4B385, D4DEN7, O09043, O42630, O76856, O93428, O96009, P00791, P00792, P00793, P00794, P00795, P00796, P00797, P03954, P03955, P04073, P06281, P07267, P07339, P08424, P0DJD7, P0DJD8, P0DJD9, P10977, P11489, P14091, P16228, P16476, P18242, P18276, P20142, P24268, P25796, P27677, P27678, P27821

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	115
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3439 predictions. Top by Δscore:

Variant	Effect	Δscore
19:47488387:CAC:C	acceptor_gain	1.0000
19:47488388:ACC:A	acceptor_loss	1.0000
19:47488390:C:CC	acceptor_gain	1.0000
19:47488390:CTGA:C	acceptor_loss	1.0000
19:47489706:CTCA:C	donor_loss	1.0000
19:47489707:TCA:T	donor_loss	1.0000
19:47489708:CAC:C	donor_loss	1.0000
19:47489709:A:AC	donor_gain	1.0000
19:47489709:ACC:A	donor_loss	1.0000
19:47489710:C:CC	donor_gain	1.0000
19:47489710:C:G	donor_loss	1.0000
19:47489710:CCGA:C	donor_gain	1.0000
19:47489757:AATTT:A	acceptor_gain	1.0000
19:47489758:ATTT:A	acceptor_gain	1.0000
19:47489759:TTT:T	acceptor_gain	1.0000
19:47489760:TT:T	acceptor_gain	1.0000
19:47489761:TCTG:T	acceptor_loss	1.0000
19:47489762:C:CA	acceptor_loss	1.0000
19:47489762:C:CC	acceptor_gain	1.0000
19:47490781:CACT:C	donor_loss	1.0000
19:47490782:ACTT:A	donor_loss	1.0000
19:47490784:TTA:T	donor_loss	1.0000
19:47490785:TACT:T	donor_loss	1.0000
19:47490786:A:AC	donor_gain	1.0000
19:47490786:A:T	donor_loss	1.0000
19:47490787:C:CT	donor_gain	1.0000
19:47490787:CT:C	donor_gain	1.0000
19:47490787:CTT:C	donor_gain	1.0000
19:47490787:CTTT:C	donor_gain	1.0000
19:47490852:GCCAG:G	acceptor_gain	1.0000

AlphaMissense

2682 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:50361674:C:G	D153H	0.977
19:50358661:G:C	F385L	0.973
19:50358661:G:T	F385L	0.973
19:50358663:A:G	F385L	0.973
19:50361765:A:C	F122L	0.971
19:50361765:A:T	F122L	0.971
19:50361767:A:G	F122L	0.971
19:50361036:A:C	F191L	0.970
19:50361036:A:T	F191L	0.970
19:50361038:A:G	F191L	0.970
19:50361056:C:A	G185W	0.969
19:50359757:C:A	W258C	0.967
19:50359757:C:G	W258C	0.967
19:50358743:A:G	F358S	0.965
19:50359759:A:G	W258R	0.965
19:50359759:A:T	W258R	0.965
19:50358705:A:G	W371R	0.964
19:50358705:A:T	W371R	0.964
19:50358695:C:A	G374V	0.963
19:50362007:A:T	V104D	0.960
19:50360957:A:G	S218P	0.958
19:50360958:G:C	F217L	0.958
19:50360958:G:T	F217L	0.958
19:50360960:A:G	F217L	0.958
19:50361992:C:G	C109S	0.958
19:50361993:A:T	C109S	0.958
19:50358703:C:A	W371C	0.956
19:50358703:C:G	W371C	0.956
19:50362011:A:G	W103R	0.956
19:50362011:A:T	W103R	0.956

dbSNP variants (sampled 300 via entrez): RS1000184052 (19:50360406 T>A,C), RS1000481143 (19:50366500 A>T), RS1001187549 (19:50359257 G>A,T), RS1002329086 (19:50358123 C>G), RS1002366386 (19:50363848 G>A), RS1002498602 (19:50364088 G>C), RS1002898790 (19:50361754 G>A), RS1002923327 (19:50362682 T>G), RS1002975641 (19:50362193 T>A), RS1003639942 (19:50362961 C>T), RS1004213969 (19:50367557 T>C), RS1004219727 (19:50361317 T>C), RS1004299940 (19:50365443 C>T), RS1004818956 (19:50365647 G>A,C), RS1004882941 (19:50358016 A>G,T)

Disease associations

OMIM: gene MIM:605631 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): myoepithelial tumor (MONDO:0002380)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_655	Blood protein levels	2.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009208	Myoepithelioma	C04.557.435.585

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases methylation, decreases expression	2
pirinixic acid	decreases expression, increases activity, affects binding	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Tretinoin	affects expression	1
Asbestos, Serpentine	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03600649	PHASE1	UNKNOWN	Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas
NCT05266196	PHASE1/PHASE2	UNKNOWN	A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577)
NCT06239272	PHASE1/PHASE2	RECRUITING	NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)
NCT06625190	PHASE1/PHASE2	RECRUITING	Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors
NCT06244420	Not specified	COMPLETED	Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis