MSLN

Summary

MSLN (mesothelin, HGNC:7371) is a protein-coding gene on chromosome 16p13.3, encoding Mesothelin (Q13421). Membrane-anchored forms may play a role in cellular adhesion.

This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Source: NCBI Gene 10232 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 208 total
• Druggable target: yes
• MANE Select transcript: NM_005823

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7371
Approved symbol	MSLN
Name	mesothelin
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	CAK1, MPF
Ensembl gene	ENSG00000102854
Ensembl biotype	protein_coding
OMIM	601051
Entrez	10232

Gene structure

Transcript identifiers

Ensembl transcripts: 68 — 68 protein_coding

ENST00000382862, ENST00000545450, ENST00000561896, ENST00000563651, ENST00000563941, ENST00000566269, ENST00000566549, ENST00000569566, ENST00000908577, ENST00000908578, ENST00000908579, ENST00000908580, ENST00000908581, ENST00000908582, ENST00000908583, ENST00000908584, ENST00000908585, ENST00000908586, ENST00000908587, ENST00000908588, ENST00000908589, ENST00000908590, ENST00000908591, ENST00000908592, ENST00000908593, ENST00000908594, ENST00000908595, ENST00000908596, ENST00000908597, ENST00000908598, ENST00000908599, ENST00000908600, ENST00000908601, ENST00000908602, ENST00000908603, ENST00000908604, ENST00000908605, ENST00000908606, ENST00000908607, ENST00000908608, ENST00000908609, ENST00000908610, ENST00000908611, ENST00000908612, ENST00000908613, ENST00000908614, ENST00000908615, ENST00000908616, ENST00000908617, ENST00000908618, ENST00000908619, ENST00000908620, ENST00000908621, ENST00000908622, ENST00000908623, ENST00000908624, ENST00000908625, ENST00000908626, ENST00000908627, ENST00000908628, ENST00000908629, ENST00000963882, ENST00000963883, ENST00000963884, ENST00000963885, ENST00000963886, ENST00000963887, ENST00000963888

RefSeq mRNA: 3 — MANE Select: NM_005823 NM_001177355, NM_005823, NM_013404

CCDS: CCDS32356, CCDS45370

Canonical transcript exons

ENST00000545450 — 18 exons

Exon	Start	End
ENSE00000347060	768379	768565
ENSE00000664160	767376	767470
ENSE00000664161	766885	767012
ENSE00000664163	766335	766490
ENSE00000664164	766059	766237
ENSE00000664165	765691	765790
ENSE00000664166	765527	765617
ENSE00000664168	765110	765303
ENSE00000664170	764647	764726
ENSE00000664171	764023	764143
ENSE00000664172	763642	763691
ENSE00000664173	763233	763276
ENSE00001708701	766668	766810
ENSE00002256529	761073	761174
ENSE00002258112	760734	760821
ENSE00002293397	762672	762765
ENSE00002623287	768648	768862
ENSE00003784901	764907	765036

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 98.65.

FANTOM5 (CAGE): breadth broad, TPM avg 9.0292 / max 2366.2554, expressed in 321 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152002	6.3014	239
151994	0.7145	162
152000	0.6160	129
152005	0.4309	50
151997	0.3929	86
152001	0.1613	63
151996	0.1276	56
151998	0.0914	38
152003	0.0845	16
151999	0.0639	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.73	gold quality
right lung	UBERON:0002167	96.59	gold quality
upper lobe of left lung	UBERON:0008952	93.31	gold quality
germinal epithelium of ovary	UBERON:0001304	92.45	gold quality
upper lobe of lung	UBERON:0008948	92.40	gold quality
palpebral conjunctiva	UBERON:0001812	91.16	gold quality
nasal cavity epithelium	UBERON:0005384	89.97	gold quality
pericardium	UBERON:0002407	89.75	gold quality
nasal cavity mucosa	UBERON:0001826	88.75	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.38	gold quality
trachea	UBERON:0003126	87.20	gold quality
lung	UBERON:0002048	86.58	gold quality
peritoneum	UBERON:0002358	85.59	gold quality
omental fat pad	UBERON:0010414	85.59	gold quality
left uterine tube	UBERON:0001303	85.50	gold quality
lower lobe of lung	UBERON:0008949	85.13	gold quality
adipose tissue of abdominal region	UBERON:0007808	83.94	gold quality
gall bladder	UBERON:0002110	82.88	gold quality
bronchus	UBERON:0002185	82.10	gold quality
epithelium of bronchus	UBERON:0002031	81.95	gold quality
parietal pleura	UBERON:0002400	81.73	gold quality
minor salivary gland	UBERON:0001830	80.22	gold quality
bronchial epithelial cell	CL:0002328	79.73	gold quality
pleura	UBERON:0000977	78.83	gold quality
fallopian tube	UBERON:0003889	78.64	gold quality
visceral pleura	UBERON:0002401	77.81	gold quality
mouth mucosa	UBERON:0003729	75.85	gold quality
saliva-secreting gland	UBERON:0001044	74.98	gold quality
urethra	UBERON:0000057	74.35	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-9906	yes	2115.61
E-MTAB-6308	yes	1090.23
E-CURD-114	yes	55.68
E-MTAB-8410	yes	24.36
E-GEOD-125970	yes	17.64
E-HCAD-1	yes	12.26
E-CURD-10	no	34.80
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, NAB1, RFX1, TCF7, TEAD1, ZNF24

miRNA regulators (miRDB)

7 targeting MSLN, 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-6722-3P	99.45	67.62	1919
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-632	96.08	67.17	798

Literature-anchored findings (GeneRIF, showing 40)

• binding of membrane-bound mesothelin to ovarian cancer antigen CA125 mediates heterotypic cell adhesion (PMID:14676194)
• mesothelin is highly expressed in several human cancers [review] (PMID:15217923)
• Elevated serum mesothelin is associated with mesothelioma and ovarian cancer (PMID:16428485)
• The mesothelin expression is associated with prolonged survival in patients with high-grade ovarian serous carcinoma. (PMID:16467095)
• MSLN, a tumor marker, is also used as a target for immunotherapy. (PMID:16638849)
• MPF is secreted by several mesothelioma cell lines and is frequently elevated in the blood of patients with mesothelioma (PMID:16857795)
• Mesothelin-MUC16 binding is a high affinity, N-glycan dependent interaction that facilitates peritoneal metastasis of ovarian tumors. (PMID:17067392)
• Mesothelin was expressed in 5 (50%) of 10 adenocarcinomas, 1 (17%) of 6 high-grade dysphasia/adenocarcinoma in situ cases, and 0 low-grade dysplasia. (PMID:17276942)
• We present evidence that during cell division the decreasing activity of MPF acts as a master signal, which utilizes different thresholds to control initiation of different mitotic events. The key temporal control here is the degradation of cyclin B1. (PMID:17598982)
• Primary acute myeloid leukemia cells express mesothelin (PMID:17803679)
• an immunohistochemical panel including CK7,CD10 and mesothelin is optimal for distinguishing between ovarian and renal clear cell carcinoma. (PMID:18042078)
• Mesothelin is not useful in the differential diagnosis of lung adenocarcinoma, squamous cell carcinoma, and malignant mesothelioma. (PMID:18064689)
• data support soluble mesothelin-related peptide as a promising marker for malignant pleural mesothelioma in both serum and pleural effusion fluid in asbestos-exposed cohorts (PMID:18154821)
• mesothelin expression,production in supernatants from epithelioid MPM cell lines (PMID:18167128)
• Overexpression of MSLN resulted in sustained activation of extracellular signal-regulated kinase 1/2 and suppression of Bim. (PMID:18245228)
• expression in <50% of tumor cells is a negative prognostic marker in malignant mesothelioma (PMID:18281122)
• Novel functions of mesothelin and a new therapeutic vaccine strategy whereby mesothelin is targeted to control pancreatic cancer progression. (PMID:18281514)
• Extremely high mesothelin levels were associated with mesothelioma (PMID:18316566)
• These findings suggest that mesothelin is expressed in at least some arachnoid and meningioma cells. (PMID:18347077)
• diagnostic value of Megakaryocyte potentiating factor for malignant pleural mesothelioma was better than that of mesothelin although both markers showed almost equal specificity for MPM (PMID:18394747)
• Assays measuring SMRP in serum and other bodily fluids are likely to be clinically useful for patients with ovarian cancer. (PMID:18546615)
• Elevated megakaryocyte potentiating factor serum levels are associated with malignant mesothelioma. (PMID:18670302)
• Mesothelin expression was observed in 24/84 (29%) of invasive adenocarcinomas and in 5/34 (15%) lymph node metastases. (PMID:18691948)
• Expression of MESO mRNA and protein is increased in ovarian carcinomas and borderline ovarian tumors. (PMID:18788634)
• Significantly higher soluble mesothelin-related protein is associated with malignant pleural mesothelioma. (PMID:18978568)
• data indicate overexpression of MSLN in pancreatic cancer cells leads to constitutive activation of Stat3, resulting in enhanced expression of cyclin E & cyclin E/cyclin-dependent kinase 2 complex formation & increased G(1)-S transition (PMID:19010822)
• analysis of N-ERC/mesothelin and expression of C-ERC/mesothelin in human pancreatic ductal carcinoma (PMID:19020717)
• A binding domain on mesothelin for CA125/MUC16. (PMID:19075018)
• higher mesothelin expression is associated with chemoresistance in patients and shorter patient survival. (PMID:19293794)
• Data show that mesothelin is a potential target in reducing resistance to cytotoxic drugs, and mesothelin-treated cells revealed rapid tyrosine phosphorylation of the p85 subunit of PI3K. (PMID:19747165)
• Polymorphisms in the putative micro-RNA-binding sites of mesothelin gene are associated with serum levels of mesothelin-related protein (PMID:19858537)
• SMRP is characterterized as a biomarker for malignant mesothelioma in human (PMID:20131968)
• A correlation was found between mesothelin expression and the average methylation/hypomethylation status as well as methylation/hypomethylation status at four of 20 CpG sites in ovarian samples. No correlation was found in endometrial samples (PMID:20349783)
• Hypomethylation of the MSLN promoter may be specifically associated with the formation of malignant mesothelioma. (PMID:20573372)
• Elevated levels of mesothelin is associated with ovarian carcinoma in patients with pelvic masses. (PMID:20593939)
• Investigated whether N-ERC (the 30 kDa N-terminal secretory form of ERC/mesothelin) could function as a secretory factor to stimulate tumor progression. (PMID:20596597)
• The mesothelin appeared in maturing epithelial cells and characterized nests of tumor cells. (PMID:20943257)
• Data suggested that the cause of MSLN cancer-specific overexpression might also contribute mechanistically to the overexpression of other tumor markers. (PMID:21288909)
• elevated serum levels is in individuals with renal impairment (PMID:21333373)
• elevated plasma levels in malignant mesothelioma patients (PMID:21397972)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Msln	ENSMUSG00000063011
rattus_norvegicus	Msln	ENSRNOG00000019445

Paralogs (3): OTOA (ENSG00000155719), MSLNL (ENSG00000162006), STRC (ENSG00000242866)

Protein

Protein identifiers

Mesothelin — Q13421 (reviewed: Q13421)

Alternative names: CAK1 antigen, Pre-pro-megakaryocyte-potentiating factor

All UniProt accessions (5): Q13421, H3BMA1, H3BR90, H3BUX1, H3BV92

UniProt curated annotations — full annotation on UniProt →

Function. Membrane-anchored forms may play a role in cellular adhesion. Megakaryocyte-potentiating factor (MPF) potentiates megakaryocyte colony formation in vitro.

Subunit / interactions. Interacts with MUC16.

Subcellular location. Cell membrane. Golgi apparatus Secreted Secreted.

Tissue specificity. Expressed in lung. Expressed at low levels in heart, placenta and kidney. Expressed in mesothelial cells. Highly expressed in mesotheliomas, ovarian cancers, and some squamous cell carcinomas (at protein level).

Post-translational modifications. Both MPF and the cleaved form of mesothelin are N-glycosylated. Proteolytically cleaved by a furin-like convertase to generate megakaryocyte-potentiating factor (MPF), and the cleaved form of mesothelin.

Disease relevance. Antibodies against MSLN are detected in patients with mesothelioma and ovarian cancer.

Miscellaneous. Minor form. Major form. Soluble form found in the sera from patients with ovarian carcinoma.

Similarity. Belongs to the mesothelin family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q13421-1	1	yes
Q13421-3	2
Q13421-2	3, SMRP
Q13421-4	4

RefSeq proteins (3): NP_001170826, NP_005814, NP_037536 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010335	Mesothelin	Family
IPR026664	Stereocilin-rel	Family

Pfam: PF06060

UniProt features (62 total): helix 28, sequence conflict 9, glycosylation site 4, sequence variant 4, chain 3, splice variant 3, turn 3, strand 2, signal peptide 1, disulfide bond 1, propeptide 1, region of interest 1, modified residue 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

12 structures.

PDB	Method	Resolution (Å)
9P4C	X-RAY DIFFRACTION	1.52
7U8C	X-RAY DIFFRACTION	1.74
9Z3B	X-RAY DIFFRACTION	1.96
7U9J	X-RAY DIFFRACTION	2.09
8CZ8	X-RAY DIFFRACTION	2.6
4F3F	X-RAY DIFFRACTION	2.65
8VM1	X-RAY DIFFRACTION	2.65
8FSL	X-RAY DIFFRACTION	2.9
7UED	X-RAY DIFFRACTION	3
8CYH	X-RAY DIFFRACTION	3.38
8CX3	X-RAY DIFFRACTION	3.61
8CXC	X-RAY DIFFRACTION	4.31

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13421-F1	79.02	0.40

Antibody-complex structures (SAbDab): 8 — 4F3F, 7U8C, 7UED, 8CXC, 8CYH, 8CZ8, 8FSL, 9P4C

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): 200, 606

Disulfide bonds (1): 302–326

Glycosylation sites (4): 496, 523, 57, 388

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 118 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, VERHAAK_AML_WITH_NPM1_MUTATED_DN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOCC_CELL_SURFACE, GGGTGGRR_PAX4_03, RODRIGUES_NTN1_TARGETS_DN, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, LEI_HOXC8_TARGETS_UP, MODULE_88, BROWNE_HCMV_INFECTION_6HR_UP, MODULE_6, MODULE_397, GOBP_CELL_SUBSTRATE_ADHESION, GOBP_CELL_MATRIX_ADHESION

GO Biological Process (2): cell adhesion (GO:0007155), cell-matrix adhesion (GO:0007160)

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

GO Cellular Component (7): extracellular region (GO:0005576), endoplasmic reticulum lumen (GO:0005788), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), side of membrane (GO:0098552)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	2
Metabolism of proteins	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
membrane	2
cellular process	1
cell-substrate adhesion	1
binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cell periphery	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

1312 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MSLN	MUC16	Q8WXI7	994
MSLN	MUC1	P13931	814
MSLN	FOLH1	Q04609	755
MSLN	PSCA	O43653	703
MSLN	EGFR	P00533	702
MSLN	CD247	P20963	669
MSLN	FOLR1	P15328	669
MSLN	ERBB2	P04626	668
MSLN	TNFRSF9	Q07011	667
MSLN	CEACAM5	P06731	666
MSLN	CD40	P25942	663
MSLN	WT1	P19544	639
MSLN	CALB2	P22676	634
MSLN	CD19	P15391	625
MSLN	CD22	P20273	615

IntAct

29 interactions, top by confidence:

A	B	Type	Score
PCGF2	CBX4	psi-mi:“MI:0914”(association)	0.840
DDX31	IGLL5	psi-mi:“MI:0914”(association)	0.530
MSLN	CPLANE2	psi-mi:“MI:0915”(physical association)	0.370
ZDHHC5	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
GOLGA8A	ZNF320	psi-mi:“MI:0914”(association)	0.350
ANLN	UBA6	psi-mi:“MI:0914”(association)	0.350
HLA-G	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SFTPC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LY86	TMEM131L	psi-mi:“MI:0914”(association)	0.350
IL5RA	POTEF	psi-mi:“MI:0914”(association)	0.350
NCR3	POTEF	psi-mi:“MI:0914”(association)	0.350
LYPD4	POTEF	psi-mi:“MI:0914”(association)	0.350
BTF3	VPS37C	psi-mi:“MI:0914”(association)	0.350
ZDHHC23	VPS37C	psi-mi:“MI:0914”(association)	0.350
PRG2	QSOX1	psi-mi:“MI:0914”(association)	0.350
DNASE1L1	QSOX1	psi-mi:“MI:0914”(association)	0.350
SDF2L1	MANBA	psi-mi:“MI:0914”(association)	0.350
GGH	MANBA	psi-mi:“MI:0914”(association)	0.350
CBLN4	AGRN	psi-mi:“MI:0914”(association)	0.350
LYPD3	NEMP1	psi-mi:“MI:0914”(association)	0.350
ECEL1	ADAM10	psi-mi:“MI:0914”(association)	0.350
GXYLT1	CLGN	psi-mi:“MI:0914”(association)	0.350
LARP1B	MAGEB2	psi-mi:“MI:0914”(association)	0.350
BSPRY	ANKRD17	psi-mi:“MI:0914”(association)	0.350
FKBP14	SCGB2A1	psi-mi:“MI:0914”(association)	0.350
ZPBP2	PALM	psi-mi:“MI:0914”(association)	0.350
RING1	FLOT1	psi-mi:“MI:0914”(association)	0.350
PPY	PRKCA	psi-mi:“MI:0914”(association)	0.350

BioGRID (49): MSLN (Affinity Capture-MS), MSLN (Affinity Capture-RNA), MSLN (Affinity Capture-RNA), MSLN (Two-hybrid), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS), MSLN (Affinity Capture-MS)

ESM2 similar proteins: A6NGW2, A6NHZ5, D3Z7H8, G7PWZ3, L5KLU7, O43157, O60486, Q03157, Q04912, Q0V8J4, Q13421, Q2HJE5, Q2PT31, Q3TYX2, Q3UH93, Q3V3V9, Q594P2, Q5EA85, Q5JZY3, Q61468, Q6F5E8, Q6MG64, Q6QNU9, Q76MJ5, Q7RTU9, Q7RTW8, Q7TN88, Q7TNJ2, Q7Z442, Q8BYG9, Q8C160, Q8C2S7, Q8CB67, Q8CJH3, Q8IUL8, Q8IZF5, Q8IZY2, Q8K4C2, Q8K561, Q8R2Q6

Diamond homologs: Q13421, Q61468, Q9ERA7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TEAD1	“up-regulates quantity by expression”	MSLN	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	144
Likely benign	25
Benign	15

Top pathogenic / likely-pathogenic (0)

SpliceAI

2949 predictions. Top by Δscore:

Variant	Effect	Δscore
16:762670:A:AG	acceptor_gain	1.0000
16:762671:G:GG	acceptor_gain	1.0000
16:764058:C:CA	acceptor_gain	1.0000
16:764140:GCAG:G	donor_gain	1.0000
16:764142:AG:A	donor_loss	1.0000
16:764143:GG:G	donor_loss	1.0000
16:764727:G:GG	donor_gain	1.0000
16:765109:GGGT:G	acceptor_gain	1.0000
16:765260:G:GT	donor_gain	1.0000
16:765522:CACAG:C	acceptor_loss	1.0000
16:765523:ACAG:A	acceptor_loss	1.0000
16:765524:C:G	acceptor_gain	1.0000
16:765524:CAGCC:C	acceptor_loss	1.0000
16:765525:A:AC	acceptor_loss	1.0000
16:765525:A:AG	acceptor_gain	1.0000
16:765526:G:GG	acceptor_gain	1.0000
16:765526:GC:G	acceptor_gain	1.0000
16:765526:GCCC:G	acceptor_gain	1.0000
16:765526:GCCCC:G	acceptor_gain	1.0000
16:765553:C:CA	acceptor_gain	1.0000
16:765617:GGTG:G	donor_loss	1.0000
16:765619:T:A	donor_loss	1.0000
16:765781:G:GT	donor_gain	1.0000
16:765781:G:T	donor_gain	1.0000
16:765786:GGAGA:G	donor_gain	1.0000
16:765787:GAGA:G	donor_gain	1.0000
16:765787:GAGAG:G	donor_gain	1.0000
16:765788:A:T	donor_gain	1.0000
16:765789:GA:G	donor_gain	1.0000
16:765791:G:GG	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000192562 (16:762918 G>A,C), RS1000310920 (16:766625 C>T), RS1000355230 (16:759561 T>C), RS1000606789 (16:763180 G>T), RS1001052642 (16:769086 C>T), RS1001112977 (16:769363 C>T), RS1001495934 (16:759800 C>T), RS1001657283 (16:762628 G>T), RS1001938211 (16:759066 C>T), RS1002155142 (16:761646 C>A), RS1002555357 (16:765530 C>G,T), RS1002660153 (16:761768 C>T), RS1002754595 (16:762516 G>T), RS1003339225 (16:765929 G>A,C), RS1003342218 (16:768248 C>A,T)

Disease associations

OMIM: gene MIM:601051 | 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
GCST005951_12	Body mass index	5.000000e-11
GCST009647_2	Serum cancer antigen 125 (CA 125) levels	3.000000e-15
GCST009647_8	Serum cancer antigen 125 (CA 125) levels	3.000000e-13
GCST009647_9	Serum cancer antigen 125 (CA 125) levels	4.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0010603	cancer antigen 125 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3712878 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, decreases methylation, increases expression	3
Air Pollutants	decreases expression, increases abundance, increases expression	3
Particulate Matter	decreases expression, increases abundance, increases expression	3
Asbestos	increases expression	2
Smoke	increases abundance, increases expression, decreases expression	2
3,19-(2-bromobenzylidene)andrographolide	increases expression, decreases response to substance	1
lead acetate	decreases expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects cotreatment	1
methylparaben	decreases expression	1
ochratoxin A	increases acetylation, increases expression	1
potassium chromate(VI)	decreases expression	1
cupric chloride	decreases expression	1
nickel sulfate	decreases expression	1
benazol P	affects expression	1
N-methyl-delta-3,3-dihydroindole-2,2 diketone	decreases expression	1
Temozolomide	increases expression	1
Troglitazone	increases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation, affects methylation	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Furaldehyde	affects cotreatment, affects localization, increases expression	1
Lead	increases expression	1
Methotrexate	affects response to substance	1
Progesterone	increases expression	1
Sodium Chloride	affects cotreatment, affects localization, increases expression, decreases expression	1
Tetradecanoylphorbol Acetate	affects cotreatment, affects expression	1
Tobacco Smoke Pollution	affects expression	1

Cellosaurus cell lines

8 cell lines: 6 cancer cell line, 2 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B8KW	Abcam HCT 116 MSLN KO	Cancer cell line	Male
CVCL_B9N3	Abcam A-549 MSLN KO	Cancer cell line	Male
CVCL_D2GH	Abcam MCF-7 MSLN KO	Cancer cell line	Female
CVCL_D8QU	Ubigene HCT 116 MSLN KO	Cancer cell line	Male
CVCL_E2CQ	HAP1 MSLN (-) 1	Cancer cell line	Male
CVCL_E2CR	HAP1 MSLN (-) 2	Cancer cell line	Male
CVCL_E6R8	Genomeditech CHO-K1 H_MSLN	Spontaneously immortalized cell line	Female
CVCL_UE28	CHO-K1 human MSLN	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

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