MAST2

Summary

MAST2 (microtubule associated serine/threonine kinase 2, HGNC:19035) is a protein-coding gene on chromosome 1p34.1, encoding Microtubule-associated serine/threonine-protein kinase 2 (Q6P0Q8). Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins.

Enables phosphatase binding activity. Predicted to be involved in several processes, including protein phosphorylation; regulation of interleukin-12 production; and spermatid differentiation. Predicted to be located in cytoplasm; cytoskeleton; and plasma membrane. Predicted to be active in microtubule cytoskeleton.

Source: NCBI Gene 23139 — RefSeq curated summary.

At a glance

• Gene–disease (curated): thrombotic disease (Limited, ClinGen)
• GWAS associations: 29
• Clinical variants (ClinVar): 307 total
• Druggable target: yes
• MANE Select transcript: NM_015112

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19035
Approved symbol	MAST2
Name	microtubule associated serine/threonine kinase 2
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	MAST205, KIAA0807
Ensembl gene	ENSG00000086015
Ensembl biotype	protein_coding
OMIM	612257
Entrez	23139

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 15 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000361297, ENST00000372008, ENST00000467367, ENST00000470809, ENST00000477968, ENST00000482881, ENST00000488619, ENST00000492813, ENST00000498668, ENST00000674079, ENST00000904601, ENST00000904602, ENST00000904603, ENST00000904604, ENST00000904605, ENST00000922949, ENST00000922950, ENST00000922951, ENST00000922952, ENST00000922953, ENST00000922954, ENST00000922955

RefSeq mRNA: 4 — MANE Select: NM_015112 NM_001319245, NM_001324320, NM_001324321, NM_015112

CCDS: CCDS41326

Canonical transcript exons

ENST00000361297 — 29 exons

Exon	Start	End
ENSE00001352881	46032178	46032404
ENSE00001411930	46034538	46036122
ENSE00002687770	45803612	45804072
ENSE00003279571	46029466	46029567
ENSE00003287038	46031391	46031585
ENSE00003315747	46025677	46025815
ENSE00003317798	46030129	46030238
ENSE00003345505	46031007	46031290
ENSE00003349424	46032596	46032718
ENSE00003353404	46030607	46030761
ENSE00003361011	46021950	46022082
ENSE00003362453	46023772	46023980
ENSE00003406335	46010730	46010939
ENSE00003425189	46027731	46027863
ENSE00003435517	46028768	46028933
ENSE00003457637	46019596	46019697
ENSE00003465491	45882364	45882395
ENSE00003469741	46029831	46029953
ENSE00003486963	46002805	46002883
ENSE00003493730	45829439	45829581
ENSE00003534463	45824433	45824580
ENSE00003544255	46008296	46008371
ENSE00003555464	46006241	46006395
ENSE00003569127	46022910	46022971
ENSE00003628973	45959386	45959477
ENSE00003634595	46023233	46023318
ENSE00003681542	45997724	45997799
ENSE00003720903	46034073	46034266
ENSE00003729244	46033802	46033938

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 98.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.8822 / max 235.4992, expressed in 1804 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2707	14.1497	1798
2709	2.1296	1181
2712	1.2366	168
2708	0.2326	78
2710	0.1191	49
2713	0.0146	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	98.09	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.78	gold quality
muscle of leg	UBERON:0001383	97.40	gold quality
apex of heart	UBERON:0002098	97.02	gold quality
muscle organ	UBERON:0001630	96.78	gold quality
mucosa of stomach	UBERON:0001199	96.12	gold quality
gluteal muscle	UBERON:0002000	95.90	gold quality
stromal cell of endometrium	CL:0002255	95.89	gold quality
pancreatic ductal cell	CL:0002079	95.82	gold quality
skeletal muscle tissue	UBERON:0001134	95.66	gold quality
heart left ventricle	UBERON:0002084	95.52	gold quality
left testis	UBERON:0004533	95.51	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.44	gold quality
cardiac ventricle	UBERON:0002082	95.42	gold quality
right testis	UBERON:0004534	95.37	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.21	gold quality
cortical plate	UBERON:0005343	95.17	gold quality
lower esophagus	UBERON:0013473	95.17	gold quality
right atrium auricular region	UBERON:0006631	95.05	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.97	gold quality
quadriceps femoris	UBERON:0001377	94.89	gold quality
tendon of biceps brachii	UBERON:0008188	94.87	gold quality
transverse colon	UBERON:0001157	94.67	gold quality
vastus lateralis	UBERON:0001379	94.67	gold quality
cardiac atrium	UBERON:0002081	94.62	gold quality
parotid gland	UBERON:0001831	94.56	gold quality
muscle tissue	UBERON:0002385	94.54	gold quality
diaphragm	UBERON:0001103	94.49	gold quality
heart	UBERON:0000948	94.35	gold quality
left ovary	UBERON:0002119	94.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.05
E-MTAB-7249	no	46.46

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 11)

• Studies report the identification of a new subfamily of SVA, which apparently formed after an alternative splicing event where the first exon of the MAST2 gene spliced into an intronic SVA and subsequently retrotransposed. (PMID:19635844)
• Recruitment of a MAST2 CpG island was most likely beneficial to the hybrid retrotransposons because it could significantly increase retrotransposition frequency. (PMID:19961423)
• Overexpression of MAST1 or MAST2 gene fusions has a proliferative effect both in vitro and in vivo in breast cancer cell lines. (PMID:22101766)
• The MAST2 sequence at the 5’ end of SVA(F1) acts as a positive transcriptional regulator in human germ cells. (PMID:22609064)
• MAST205 plays an important role in regulating CFTR expression and function (PMID:23504457)
• MAST2 gene rearrangements occur in invasive breast carcinoma. (PMID:24140425)
• Viral and PTEN peptide interactions to MAST2-PDZ occur via a unique kinetic step which involves both canonical C-terminal PBM binding and N-terminal anchoring. (PMID:25942057)
• we observed 3 case-specific duplications of the autosomal gene MAST2, and in a replication phase we found another 11 duplications (PMID:26203179)
• High MAST2 mRNA expression and its role in diagnosis and prognosis of liver cancer. (PMID:31882722)
• MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. (PMID:32198973)
• A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant. (PMID:33465109)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	mast2	ENSDARG00000074311
mus_musculus	Mast2	ENSMUSG00000003810
rattus_norvegicus	Mast2	ENSRNOG00000058476
drosophila_melanogaster	CG32944	FBGN0052944
drosophila_melanogaster	dop	FBGN0267390
caenorhabditis_elegans		WBGENE00002192
caenorhabditis_elegans	wts-1	WBGENE00007047
caenorhabditis_elegans		WBGENE00010838
caenorhabditis_elegans		WBGENE00011992

Paralogs (13): MAST4 (ENSG00000069020), MAST3 (ENSG00000099308), SGK2 (ENSG00000101049), SGK3 (ENSG00000104205), DMPK (ENSG00000104936), MAST1 (ENSG00000105613), SGK1 (ENSG00000118515), MASTL (ENSG00000120539), LATS1 (ENSG00000131023), LATS2 (ENSG00000150457), STK32B (ENSG00000152953), STK32C (ENSG00000165752), STK32A (ENSG00000169302)

Protein

Protein identifiers

Microtubule-associated serine/threonine-protein kinase 2 — Q6P0Q8 (reviewed: Q6P0Q8)

All UniProt accessions (3): Q6P0Q8, A0A669KBJ4, V9GXZ1

UniProt curated annotations — full annotation on UniProt →

Function. Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation.

Subunit / interactions. Interacts with CDHR2.

Subcellular location. Cytoplasm. Cytoskeleton. Cell membrane.

Tissue specificity. Abundant in the testis.

Post-translational modifications. Phosphorylated and ubiquitinated. N-terminal ubiquitination leads to degradation of MAST2 by proteasome-mediated proteolysis. N-terminal phosphorylation appears to be a prerequisite for ubiquitination.

Similarity. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P0Q8-1	1	yes
Q6P0Q8-2	2

RefSeq proteins (4): NP_001306174, NP_001311249, NP_001311250, NP_055927* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR000961	AGC-kinase_C	Domain
IPR001478	PDZ	Domain
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR015022	MAST_pre-PK_dom	Domain
IPR023142	MAST_pre-PK_dom_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR037711	MAST	Domain
IPR041489	PDZ_6	Domain
IPR050236	Ser_Thr_kinase_AGC	Family

Pfam: PF00069, PF08926, PF17820

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (83 total): compositionally biased region 20, modified residue 17, sequence variant 16, region of interest 10, strand 7, domain 3, splice variant 3, binding site 2, helix 2, chain 1, active site 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2KQF	SOLUTION NMR
2KYL	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P0Q8-F1	50.82	0.17

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 (1): 635 (proton acceptor)

Ligand- & substrate-binding residues (2): 518–526; 541

Post-translational modifications (17): 66, 74, 148, 151, 209, 290, 874, 876, 895, 900, 1004, 1032, 1256, 1337, 1364, 1447, 1508

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 135 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_MALE_GAMETE_GENERATION, GGGTGGRR_PAX4_03, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CYTOKINE_PRODUCTION, chr1p34, TGANTCA_AP1_C, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, NRF2_Q4, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, LE_EGR2_TARGETS_DN, NFE2_01, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, PARENT_MTOR_SIGNALING_UP

GO Biological Process (6): protein phosphorylation (GO:0006468), cytoskeleton organization (GO:0007010), regulation of interleukin-12 production (GO:0032655), intracellular signal transduction (GO:0035556), spermatid differentiation (GO:0048515), developmental process (GO:0032502)

GO Molecular Function (12): magnesium ion binding (GO:0000287), protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), microtubule binding (GO:0008017), phosphatase binding (GO:0019902), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (5): plasma membrane (GO:0005886), microtubule cytoskeleton (GO:0015630), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	2
protein kinase activity	2
cellular anatomical structure	2
phosphorylation	1
protein modification process	1
organelle organization	1
regulation of cytokine production	1
interleukin-12 production	1
signal transduction	1
developmental process involved in reproduction	1
spermatogenesis	1
cellular process involved in reproduction in multicellular organism	1
cell differentiation	1
biological_process	1
metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
enzyme binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
cation binding	1
membrane	1
cell periphery	1
cytoskeleton	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1028 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAST2	PTEN	P60484	878
MAST2	MAGI2	Q86UL8	840
MAST2	SNTB2	Q13425	798
MAST2	TRAF6	Q9Y4K3	756
MAST2	GPBP1L1	Q9HC44	583
MAST2	NHERF2	Q15599	566
MAST2	SNX27	Q96L92	531
MAST2	DLG1	Q12959	523
MAST2	GOPC	Q9HD26	474
MAST2	NEXMIF	Q5QGS0	473
MAST2	CALM1	P02593	471
MAST2	NHERF1	O14745	468
MAST2	TMEM69	Q5SWH9	461
MAST2	PTPN4	P29074	457
MAST2	SLC9A3	P48764	446

IntAct

531 interactions, top by confidence:

A	B	Type	Score
YWHAH	ABLIM1	psi-mi:“MI:0914”(association)	0.800
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
E	MAST2	psi-mi:“MI:0915”(physical association)	0.610
MAST2	ACE2	psi-mi:“MI:0915”(physical association)	0.610
E6	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610
MAST2	E6	psi-mi:“MI:0407”(direct interaction)	0.610
PTEN	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610
RPS6KA1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610
SLC15A5	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610
MAST2	SLC15A5	psi-mi:“MI:0915”(physical association)	0.610
E	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610
MAST2	E	psi-mi:“MI:0915”(physical association)	0.610
MAST2	ARHGAP6	psi-mi:“MI:0407”(direct interaction)	0.610
MAST2	ARHGAP6	psi-mi:“MI:0915”(physical association)	0.610
FZD7	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610
MAST2	E6	psi-mi:“MI:0915”(physical association)	0.610
Tax	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610
MAST2	Tax	psi-mi:“MI:0915”(physical association)	0.610
ATP2B4	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610

BioGRID (76): MAST2 (Affinity Capture-MS), MAST2 (Affinity Capture-MS), MAST2 (Proximity Label-MS), MAST2 (Biochemical Activity), MAST2 (Affinity Capture-MS), MAST2 (Affinity Capture-MS), GCN1L1 (Affinity Capture-MS), MAST2 (Affinity Capture-Western), MAST2 (Co-localization), TRAF6 (Affinity Capture-Western), TRAF2 (Affinity Capture-Western), MAST2 (Protein-peptide), PTEN (Co-crystal Structure), PTEN (Reconstituted Complex), MAST2 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0G2JUG7, A1L390, E9Q0S6, O08774, O14924, O15085, O43182, O54834, O54960, O60307, O75052, P57095, Q13009, Q3U1V8, Q3U214, Q3UHC7, Q4VAC9, Q5DU25, Q5JU85, Q5RBI7, Q5SXA9, Q5VWQ8, Q60610, Q64512, Q6AX33, Q6DN90, Q6NXJ0, Q6P0Q8, Q6P1I6, Q6ZMN7, Q76G19, Q76LL6, Q76M68, Q7T2V3, Q810W7, Q8CGE9, Q8IX03, Q8R0S2, Q8R4H2, Q8WYP3

Diamond homologs: A2VDV2, A8WVU9, A8XJL7, E9PSL7, F4HPN2, F4HYG2, F4J6F6, M3TYT0, O01583, O13310, O14578, O15021, O45797, O54874, O60307, O75116, O77819, O94487, O95835, P00517, P05131, P05383, P0C1B1, P12688, P17612, P18961, P22204, P22694, P25321, P27791, P31034, P32328, P36887, P38679, P38938, P49025, P53894, P54265, P54644, P68180

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MAST2	up-regulates	PTEN	phosphorylation
MAST2	“down-regulates activity”	SLC9A3	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 141 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	53.8×	5e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	47.5×	8e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	47.5×	8e-09
Activation of BH3-only proteins	7	35.1×	6e-08
Signaling by Hippo	5	27.5×	4e-05
RHO GTPases activate PKNs	7	22.4×	2e-06
Intrinsic Pathway for Apoptosis	7	20.7×	3e-06
FOXO-mediated transcription	5	17.0×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	13.8×	8e-03
monoatomic ion transport	7	8.2×	8e-03
intracellular protein localization	9	7.1×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	242
Likely benign	20
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

5798 predictions. Top by Δscore:

Variant	Effect	Δscore
1:45824428:T:A	acceptor_gain	1.0000
1:45824428:TGAA:T	acceptor_loss	1.0000
1:45824429:GAA:G	acceptor_loss	1.0000
1:45824430:AAGG:A	acceptor_loss	1.0000
1:45824431:A:AG	acceptor_gain	1.0000
1:45824431:AG:A	acceptor_gain	1.0000
1:45824431:AGGAT:A	acceptor_gain	1.0000
1:45824432:G:GT	acceptor_gain	1.0000
1:45824432:GG:G	acceptor_gain	1.0000
1:45824432:GGA:G	acceptor_gain	1.0000
1:45824432:GGAT:G	acceptor_gain	1.0000
1:45824432:GGATG:G	acceptor_gain	1.0000
1:45824542:G:GG	donor_gain	1.0000
1:45824577:TCGG:T	donor_loss	1.0000
1:45824579:GG:G	donor_gain	1.0000
1:45824579:GGG:G	donor_loss	1.0000
1:45824580:GG:G	donor_gain	1.0000
1:45824580:GGTA:G	donor_loss	1.0000
1:45824582:T:A	donor_loss	1.0000
1:45882362:A:AG	acceptor_gain	1.0000
1:45882363:G:GG	acceptor_gain	1.0000
1:45882392:GCTT:G	donor_gain	1.0000
1:45917325:T:TA	acceptor_gain	1.0000
1:45959380:TTGCA:T	acceptor_loss	1.0000
1:45959381:TGCAG:T	acceptor_loss	1.0000
1:45959382:GCA:G	acceptor_loss	1.0000
1:45959383:CAG:C	acceptor_loss	1.0000
1:45959384:A:AG	acceptor_gain	1.0000
1:45959384:AGTT:A	acceptor_gain	1.0000
1:45959385:G:GC	acceptor_gain	1.0000

AlphaMissense

11622 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:46002821:T:A	W229R	1.000
1:46002821:T:C	W229R	1.000
1:46027733:T:C	L641P	1.000
1:46027769:A:T	D653V	1.000
1:46028840:T:A	W709R	1.000
1:46028840:T:C	W709R	1.000
1:46028849:G:C	G712R	1.000
1:46032337:T:C	F1116S	1.000
1:46032648:T:C	L1156P	1.000
1:45997741:A:C	S204R	0.999
1:45997743:C:A	S204R	0.999
1:45997743:C:G	S204R	0.999
1:46002823:G:C	W229C	0.999
1:46002823:G:T	W229C	0.999
1:46002869:A:C	S245R	0.999
1:46002871:C:A	S245R	0.999
1:46002871:C:G	S245R	0.999
1:46006388:A:C	S299R	0.999
1:46006390:C:A	S299R	0.999
1:46006390:C:G	S299R	0.999
1:46019684:T:C	L426P	0.999
1:46021953:T:C	F432L	0.999
1:46021955:T:A	F432L	0.999
1:46021955:T:G	F432L	0.999
1:46021981:T:C	L441S	0.999
1:46023302:A:C	S519R	0.999
1:46023304:C:A	S519R	0.999
1:46023304:C:G	S519R	0.999
1:46023317:G:T	G524W	0.999
1:46023318:G:A	G524E	0.999

dbSNP variants (sampled 300 via entrez): RS1000004040 (1:45816029 A>G), RS1000011026 (1:45968529 C>A,T), RS1000019784 (1:45833112 A>C,G), RS1000020288 (1:45879208 A>T), RS1000046248 (1:45826006 G>A), RS1000047583 (1:45822152 G>A), RS1000052938 (1:45945712 A>G), RS1000053113 (1:45862657 A>T), RS1000057662 (1:45898514 T>TTTTTTG), RS1000069486 (1:46030457 C>T), RS1000078179 (1:45970883 A>G), RS1000078979 (1:46030645 G>A), RS1000079397 (1:46008540 C>T), RS1000119882 (1:45963944 G>A), RS1000124373 (1:45967456 C>T)

Disease associations

OMIM: gene MIM:612257 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
thrombotic disease	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
thrombotic disease	Limited	AD

Mondo (1): thrombotic disease (MONDO:0000831)

Orphanet (0):

HPO phenotypes

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

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST002783_275	Body mass index	2.000000e-06
GCST002783_630	Body mass index	3.000000e-06
GCST004571_9	Iron status biomarkers (total iron binding capacity)	2.000000e-07
GCST004572_21	Iron status biomarkers (transferrin saturation)	2.000000e-07
GCST004601_3	Red blood cell count	8.000000e-21
GCST004614_108	Granulocyte count	3.000000e-10
GCST004620_109	Sum basophil neutrophil counts	7.000000e-10
GCST004622_102	Reticulocyte count	3.000000e-11
GCST004626_55	Myeloid white cell count	5.000000e-11
GCST004629_5	Neutrophil count	1.000000e-09
GCST010083_200	Hemoglobin levels	5.000000e-27
GCST010118_3	Type 2 diabetes	4.000000e-12
GCST010696_7	Cortical thickness (min-P)	3.000000e-08
GCST010697_28	Cortical surface area (min-P)	2.000000e-08
GCST010698_30	Subcortical volume (min-P)	3.000000e-08
GCST010699_45	Brain morphology (min-P)	3.000000e-08
GCST010700_23	Cortical thickness (MOSTest)	1.000000e-10
GCST010701_9	Cortical surface area (MOSTest)	2.000000e-08
GCST010702_139	Subcortical volume (MOSTest)	4.000000e-14
GCST010703_258	Brain morphology (MOSTest)	2.000000e-13
GCST012020_65	Serum metabolite levels	1.000000e-17
GCST90002383_133	Hematocrit	6.000000e-38
GCST90002384_538	Hemoglobin	1.000000e-32
GCST90002390_597	Mean corpuscular hemoglobin	2.000000e-19
GCST90002392_163	Mean corpuscular volume	8.000000e-20
GCST90002393_27	Monocyte count	4.000000e-14
GCST90002397_629	Mean spheric corpuscular volume	1.000000e-15
GCST90002403_1	Red blood cell count	2.000000e-58
GCST90002405_151	Reticulocyte count	4.000000e-28

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006334	total iron binding capacity
EFO:0004305	erythrocyte count
EFO:0007987	granulocyte count
EFO:0004833	neutrophil count
EFO:0005090	basophil count
EFO:0007986	reticulocyte count
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004348	hematocrit
EFO:0004527	mean corpuscular hemoglobin
EFO:0005091	monocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D013927	Thrombosis	C14.907.355.830

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2417355 (SINGLE PROTEIN), CHEMBL3038500 (PROTEIN FAMILY)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — MAST family

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
bisphenol A	decreases methylation	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
coumarin	affects phosphorylation	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
Fulvestrant	decreases methylation, affects cotreatment	1
Acetaminophen	increases expression	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Endosulfan	decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Phthalic Acids	increases methylation	1
Quercetin	decreases phosphorylation	1
Tretinoin	decreases expression	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Genistein	increases expression	1

ChEMBL screening assays

19 unique, capped per target: 19 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4034397	Binding	Inhibition of MAST2 Lysine 2 labelling site (unknown origin) at 10 uM	Developing DYRK inhibitors derived from the meridianins as a means of increasing levels of NFAT in the nucleus. — Bioorg Med Chem Lett

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1WS	Abcam HeLa MAST2 KO	Cancer cell line	Female
CVCL_SX21	HAP1 MAST2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00190307	PHASE4	COMPLETED	STRATAGEM: Strategy for Managing Antiplatelet Therapy in the Perioperative Period of Non Coronary Surgery
NCT00203580	PHASE4	COMPLETED	Trial of the Effect of Low-Molecular-Weight Heparin (LMWH) Versus Warfarin on Mortality in the Long-Term Treatment of Proximal Deep Vein Thrombosis (DVT) (Main LITE Study)
NCT00203658	PHASE4	COMPLETED	Assessment of Long-Term Out-of-Hospital Treatment of Patients With Proximal Deep Vein Thrombosis (DVT) Using Low-Molecular-Weight Heparin (LMWH) Versus LMWH Followed by Warfarin
NCT00303420	PHASE4	TERMINATED	Alteplase for Blood Flow Restoration in Hemodialysis Catheters
NCT00447434	PHASE4	COMPLETED	Efficacy and Safety of Natto Extract
NCT00479362	PHASE4	COMPLETED	Anticoagulant Therapy During Pacemaker Implantation
NCT00733434	PHASE4	UNKNOWN	The Use of Prostaglandin E1 in Head and Neck Microsurgery
NCT00766896	PHASE4	COMPLETED	Platelet Hyperreactivity to Aspirin and Stroke
NCT00796692	PHASE4	COMPLETED	Nadroparin for the Initial Treatment of Pulmonary Thromboembolism
NCT00913133	PHASE4	COMPLETED	Safety Study of Desirudin, an Anticoagulant for the Prophylaxis of Thrombosis
NCT00983112	PHASE4	UNKNOWN	Evicel Study on the Peri-operative Bleeding in Total Knee Prothesis Surgery
NCT01006486	PHASE4	COMPLETED	Outcomes of an Anticoagulation Clinic in an University Hospital
NCT01021488	PHASE4	UNKNOWN	Rosuvastatin for Preventing Deep Vein Thrombosis
NCT01063426	PHASE4	UNKNOWN	Re-STOP DVT: Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users
NCT01178268	PHASE4	COMPLETED	XIENCE V Everolimus Eluting Coronary Stent System (EECSS) China: Post-Approval Randomized Control Trial (RCT)
NCT01281033	PHASE4	COMPLETED	CompariSon of Manual Aspiration With Rheolytic Thrombectomy in Patients Undergoing Primary PCI. The SMART-PCI Trial
NCT01392612	PHASE4	COMPLETED	Erythropoietin and Platelet Activation Markers
NCT01410539	PHASE4	COMPLETED	Mechanism Of Stent Thrombosis (MOST) Study
NCT01478282	PHASE4	UNKNOWN	Reversal of the Antithrombotic Action of New Oral Anticoagulants
NCT01612884	PHASE4	TERMINATED	Antiplatelet Therapy Guided by Thrombelastography in Patients With Acute Coronary Syndromes (TEGCOR Study)
NCT01670474	PHASE4	UNKNOWN	Prolonged Hemodialysis Catheter Survival With Copolymer Coating and Rt-PA
NCT01823185	PHASE4	UNKNOWN	Bedside Testing of CYP2C19 Gene for Treatment of Patients With PCI With Antiplatelet Therapy
NCT01875185	PHASE4	TERMINATED	Hormones Inflammation and Thrombosis
NCT02055131	PHASE4	UNKNOWN	Antiaggregation in Primary Prevention of Vascular Access for Hemodialysis
NCT02140801	PHASE4	COMPLETED	Optical Coherence Tomography to Evaluate Ticagrelor and Clopidogrel
NCT02295475	PHASE4	COMPLETED	Apixaban for Secondary Prevention of Thromboembolism Among Patients With AntiphosPholipid Syndrome
NCT02486367	PHASE4	COMPLETED	Inflammation and Thrombosis in Patients With Severe Aortic Stenosis After Transcatheter Aortic Valve Replacement (TAVR)
NCT02639143	PHASE4	COMPLETED	Rapid P2Y12 Receptor Inhibition Attenuates Inflammatory Cell Infiltration in Thrombus Aspirated From the STEMI Patients
NCT02945280	PHASE4	TERMINATED	Apixaban for Routine Management of Upper Extremity Deep Venous Thrombosis
NCT02974920	PHASE4	UNKNOWN	Rivaroxaban or Aspirin for Biological Aortic Prosthesis
NCT03161678	PHASE4	COMPLETED	CES1 Crossover Trial of Clopidogrel and Ticagrelor
NCT03568890	PHASE4	ACTIVE_NOT_RECRUITING	Short-Term Anticoagulation Versus Antiplatelet Therapy for Preventing Device Thrombosis Following Left Atrial Appendage Closure
NCT03805672	PHASE4	TERMINATED	Below Knee DVT Study
NCT04373707	PHASE4	COMPLETED	Weight-Adjusted vs Fixed Low Doses of Low Molecular Weight Heparin For Venous Thromboembolism Prevention in COVID-19
NCT04746339	PHASE4	TERMINATED	Apixaban for PrOphyLaxis of thromboemboLic Outcomes in COVID-19
NCT05067153	PHASE4	UNKNOWN	Thromboprophylaxis in Oesophageal Cancer Patients
NCT05116995	PHASE4	UNKNOWN	Differential EFfects of Dual antIplatelet and Dual aNtithrombotic thErapy on Hemostasis in Chronic Coronary Syndrome Patients
NCT05245877	PHASE4	RECRUITING	Pre- Vs. Postoperative Thromboprophylaxis in Pancreatic Surgery
NCT05252923	PHASE4	TERMINATED	Endothelial Protection in Convalescent COVID-19 Patients