SERPINB2

Summary

SERPINB2 (serpin family B member 2, HGNC:8584) is a protein-coding gene on chromosome 18q21.33-q22.1, encoding Plasminogen activator inhibitor 2 (P05120). Inhibits urokinase-type plasminogen activator.

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in fibrinolysis and negative regulation of apoptotic process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in cornified envelope and extracellular space.

Source: NCBI Gene 5055 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 70 total — 1 pathogenic
• MANE Select transcript: NM_002575

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8584
Approved symbol	SERPINB2
Name	serpin family B member 2
Location	18q21.33-q22.1
Locus type	gene with protein product
Status	Approved
Aliases	HsT1201, PAI-2
Ensembl gene	ENSG00000197632
Ensembl biotype	protein_coding
OMIM	173390
Entrez	5055

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000299502, ENST00000404622, ENST00000413956, ENST00000443281, ENST00000457692, ENST00000482254, ENST00000942451

RefSeq mRNA: 2 — MANE Select: NM_002575 NM_001143818, NM_002575

CCDS: CCDS11989

Canonical transcript exons

ENST00000299502 — 8 exons

Exon	Start	End
ENSE00001102638	63887705	63887770
ENSE00001743384	63891436	63891612
ENSE00001812472	63902901	63903888
ENSE00003580449	63897091	63897219
ENSE00003586471	63897727	63897844
ENSE00003590473	63895264	63895383
ENSE00003647468	63901740	63901882
ENSE00003674913	63902404	63902568

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 99.20.

FANTOM5 (CAGE): breadth broad, TPM avg 159.3061 / max 12140.1707, expressed in 910 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170619	158.5107	902
170627	0.4298	125
170625	0.0964	36
170621	0.0955	17
170628	0.0893	38
170626	0.0417	19
170624	0.0215	10
208583	0.0102	3
170622	0.0079	3
170623	0.0031	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	99.20	gold quality
pharyngeal mucosa	UBERON:0000355	98.86	gold quality
upper leg skin	UBERON:0004262	98.44	gold quality
oral cavity	UBERON:0000167	98.28	gold quality
lower esophagus mucosa	UBERON:0035834	97.56	gold quality
esophagus mucosa	UBERON:0002469	96.17	gold quality
skin of hip	UBERON:0001554	95.84	gold quality
esophagus squamous epithelium	UBERON:0006920	95.61	gold quality
decidua	UBERON:0002450	95.53	gold quality
squamous epithelium	UBERON:0006914	95.52	gold quality
epithelium of nasopharynx	UBERON:0001951	95.44	gold quality
nasopharynx	UBERON:0001728	95.42	gold quality
cervix squamous epithelium	UBERON:0006922	95.35	gold quality
epithelium of esophagus	UBERON:0001976	95.34	gold quality
upper arm skin	UBERON:0004263	95.04	gold quality
islet of Langerhans	UBERON:0000006	94.60	gold quality
gingiva	UBERON:0001828	94.55	gold quality
tongue squamous epithelium	UBERON:0006919	94.50	gold quality
gingival epithelium	UBERON:0001949	94.42	gold quality
placenta	UBERON:0001987	94.40	gold quality
stromal cell of endometrium	CL:0002255	93.91	gold quality
skin of abdomen	UBERON:0001416	93.42	gold quality
cervix epithelium	UBERON:0004801	93.34	gold quality
zone of skin	UBERON:0000014	92.42	gold quality
skin of leg	UBERON:0001511	92.03	gold quality
penis	UBERON:0000989	91.39	gold quality
mammalian vulva	UBERON:0000997	87.52	gold quality
palpebral conjunctiva	UBERON:0001812	86.53	gold quality
nasal cavity epithelium	UBERON:0005384	86.29	gold quality
bone marrow	UBERON:0002371	85.90	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-81383	yes	2982.08
E-MTAB-8142	yes	113.05
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, AP1, F2RL1, FOS, FOSB, FOXO1, GLI2, JUN, MAZ, NFKB1, RELA, ZFP36

miRNA regulators (miRDB)

62 targeting SERPINB2, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-3180-5P	99.82	69.12	2422

Literature-anchored findings (GeneRIF, showing 40)

• regulator of monocyte proliferation and differentiation (PMID:11929770)
• plasminogen activator inhibitor type 2: potential prognostic factor for endometrial carcinomas (PMID:11949838)
• Identification of plasminogen activator inhibitor-2 as a gastrin-regulated gene (PMID:12105855)
• post-transcriptional regulation of the PAI-2 gene is modulated by tristetrapolin (PMID:12578825)
• Data suggest that the CD-loop functions as a redox-sensitive switch that converts plasminogen activator inhibitor type 2 (PAI-2) between an active stable monomeric and a polymerogenic conformation. (PMID:12682008)
• These results indicate that PAI-2 may enhance Rb’s tumor suppressor activity and suggest a potential therapeutic role for PAI-2 against HPV-transformed lesions. (PMID:12944478)
• evidence that a polymorphism of the PAI-2 gene is associated with an increased risk of myocardial infarction (PMID:14653443)
• PAI-2 has a role in scleroderma, as seen by its expression in fibroblasts (PMID:15500643)
• PAI-2 expression has a potent suppressive effect on human papillomavirus type 18 oncogene transcription mediated by Rb and LIP, a finding with potential implications for prognosis and treatment of human papillomavirus-transformed lesions. (PMID:15767426)
• PAI2 is present in normal conjunctiva. (PMID:15887231)
• Elevated plasma levels in, and therefore a marker for cancers. (PMID:16113755)
• investigated the unique mousetrap inhibition mechanism of serpins through saturation mutagenesis of the P8 residue for PAI-2 (PMID:16214170)
• the urokinase/PAI-2 complex is a new high affinity ligand for the endocytosis receptor low density lipoprotein receptor-related protein (PMID:16459332)
• SerpinB2 is a potentially important inducible host factor that significantly promotes HIV-1 replication (PMID:16923810)
• in patients with complex congenital malformations amniotic fluid levels of plasminogen activator inhibitor type 2(PAI2) (PMID:17141398)
• Data indicate that this family did not follow the Mendelian inheritance pattern; the Ser(413)/Ser genotype in 60% of the affected members might increase the risk for autoimmune syndromes such as anti-phospholipid syndrome or systemic lupus erythematosus. (PMID:17657675)
• PAI-2 is able to inhibit and clear urokinase plasminogen activator activity without initiating mitogenic signalling events through the very-low-density-lipoprotein receptor (VLDLr). (PMID:17696882)
• Type 2 diabetes in this study seems not to increase gingival crevicular fluid levels of the evaluated inflammatory mediators PAI2. (PMID:18472001)
• SerpinB2 is a cell survival factor that modulates Rb repression of proapoptotic signal transduction (PMID:18632617)
• PAI-2 can inhibit cell-bound tPA activity in vitro and thus prevent plasmin formation (PMID:18690354)
• Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1. (PMID:19074642)
• It is feasible to detect fetal trisomy 18 non-invasively by maternal plasma SERPINB2 RNA-SNP analysis provided that sufficient quantities of plasma samples are used. (PMID:19650060)
• PAI-2 expression is up-regulated on transition from CIN 2 to CIN 3. (PMID:19926580)
• The decrease in plasma PAI-2 observed in preeclampsia does not precede the clinical onset of the disease. (PMID:20205627)
• PAI-2 has a role in promoting the differentiation of human epidermal keratinocytes. (PMID:20494554)
• Suggest that while PAI-1 and PAI-2 function similarly in the control of cellular plasmin generation by t-PA, they may have disparate effects on the alternative functions of t-PA via modulation of its engagement with endocytosis receptors. (PMID:20838737)
• Results describe periodontal treatment effects on gingival crevicular fluid (GCF) interleukin-6 (IL-6), tissue-type plasminogen activator (tPA), plasminogen activator inhibitor-2 (PAI-2), albumin levels in type 2 diabetic patients. (PMID:20845058)
• HPV-transformed CaSki cells express high levels of SerpinB2, with cellular distribution, glycosylation, secretion, cleavage, induction and urokinase binding similar to that for primary cells; SerpinB2 efficiently binds the proteasomal subunit member beta1 (PMID:20974129)
• Our results suggest that P. intermedia may contribute to periodontal tissue destruction by upregulating tPA and PAI-2 expression in hPDL cells via multiple signaling pathways. (PMID:21314733)
• PAI-2 is capable of inhibiting uPA in the presence of PAI-1, particularly on adherent cells in the presence of vitronectin (PMID:21316840)
• Plasminogen activator inhibitor-2 (PAI-2) secreted from activated mast cells induces alpha-smooth muscle actin (alpha-SMA) expression in dermal fibroblasts (PMID:21477997)
• Dependence on endocytic receptor binding via a minimal binding motif underlies the differential prognostic profiles of SerpinE1 and SerpinB2 in (PMID:21606492)
• High PAI-2 expression is associated with poor treatment response in colorectal carcinoma. (PMID:21744990)
• Data suggests that PAI-2, in endothelial cells induced with inflammatory stimuli, can inhibit proteasome and thus tilt the balance favoring proapoptotic signaling. (PMID:21976669)
• a model for the transcriptional control of the human PAI-2 gene (PMID:22334683)
• Low expression of PAI-2 serves as a novel marker of portal vein tumor embolism and poor prognosis for hepatocellular cancer. (PMID:23188538)
• SerpinB2 can be induced by lentiviral infection in vivo. (PMID:23460840)
• Increased expression of SerpinB2 by an inflammatory stimulus is sufficient to generate structures that resemble secretory vesicles. (PMID:23474086)
• PAI-2 expression may be negatively associated with the invasive potential of hepatocellular carcinoma (HCC). (PMID:23527801)
• PSMB1 is part of the transcriptional machinery required for gastrin stimulated expression of PAI-2 and Reg1. (PMID:23544109)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Serpinb2	ENSMUSG00000062345
rattus_norvegicus	Serpinb2	ENSRNOG00000002460

Paralogs (36): SERPINB1 (ENSG00000021355), SERPINB3 (ENSG00000057149), SERPIND1 (ENSG00000099937), SERPINA4 (ENSG00000100665), SERPINE1 (ENSG00000106366), SERPINI2 (ENSG00000114204), SERPINC1 (ENSG00000117601), SERPINA7 (ENSG00000123561), SERPINB6 (ENSG00000124570), SERPINF1 (ENSG00000132386), AGT (ENSG00000135744), SERPINE2 (ENSG00000135919), SERPINA10 (ENSG00000140093), SERPING1 (ENSG00000149131), SERPINH1 (ENSG00000149257), SERPINI1 (ENSG00000163536), SERPINA12 (ENSG00000165953), SERPINB7 (ENSG00000166396), SERPINB8 (ENSG00000166401), SERPINB12 (ENSG00000166634), SERPINF2 (ENSG00000167711), SERPINA9 (ENSG00000170054), SERPINA6 (ENSG00000170099), SERPINB9 (ENSG00000170542), SERPINA11 (ENSG00000186910), SERPINA5 (ENSG00000188488), SERPINA3 (ENSG00000196136), SERPINA1 (ENSG00000197249), SERPINB13 (ENSG00000197641), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), SERPINB5 (ENSG00000206075), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)

Protein

Protein identifiers

Plasminogen activator inhibitor 2 — P05120 (reviewed: P05120)

Alternative names: Monocyte Arg-serpin, Placental plasminogen activator inhibitor, Serpin B2, Urokinase inhibitor

All UniProt accessions (4): E7EPJ9, E7ERB5, E9PDK7, P05120

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell-derived PAI-1.

Subunit / interactions. Interacts with PSMB1.

Subcellular location. Cytoplasm. Secreted. Extracellular space.

Post-translational modifications. The signal sequence is not cleaved.

Similarity. Belongs to the serpin family. Ov-serpin subfamily.

RefSeq proteins (2): NP_001137290, NP_002566* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000215	Serpin_fam	Family
IPR015556	PAI-2	Family
IPR023795	Serpin_CS	Conserved_site
IPR023796	Serpin_dom	Domain
IPR036186	Serpin_sf	Homologous_superfamily
IPR042178	Serpin_sf_1	Homologous_superfamily
IPR042185	Serpin_sf_2	Homologous_superfamily

Pfam: PF00079

UniProt features (49 total): strand 18, helix 12, turn 6, sequence variant 5, glycosylation site 3, chain 1, signal peptide 1, sequence conflict 1, site 1, disulfide bond 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2ARR	X-RAY DIFFRACTION	1.55
1JRR	X-RAY DIFFRACTION	1.6
2ARQ	X-RAY DIFFRACTION	1.85
1BY7	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05120-F1	86.50	0.71

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): 380–381 (reactive bond)

Disulfide bonds (1): 5–405

Glycosylation sites (3): 75, 115, 339

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-75205	Dissolution of Fibrin Clot
R-HSA-8950505	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation

MSigDB gene sets: 322 (showing top): MCLACHLAN_DENTAL_CARIES_UP, GOBP_REGULATION_OF_WOUND_HEALING, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_REGULATION_OF_COAGULATION, KYNG_DNA_DAMAGE_DN, MODULE_16, BILD_SRC_ONCOGENIC_SIGNATURE, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, ONDER_CDH1_TARGETS_3_DN, HINATA_NFKB_TARGETS_KERATINOCYTE_UP, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_NEGATIVE_REGULATION_OF_COAGULATION, CHANG_IMMORTALIZED_BY_HPV31_DN, GOBP_WOUND_HEALING, MARTINEZ_RB1_TARGETS_UP

GO Biological Process (2): fibrinolysis (GO:0042730), negative regulation of apoptotic process (GO:0043066)

GO Molecular Function (2): serine-type endopeptidase inhibitor activity (GO:0004867), peptidase inhibitor activity (GO:0030414)

GO Cellular Component (5): cornified envelope (GO:0001533), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Hemostasis	1
Interleukin-12 signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
negative regulation of blood coagulation	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
enzyme inhibitor activity	1
peptidase activity	1
peptidase regulator activity	1
plasma membrane	1
intracellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1730 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SERPINB2	PLAU	P00749	959
SERPINB2	PLG	P00747	932
SERPINB2	CLCA1	A8K7I4	900
SERPINB2	PLAT	P00750	880
SERPINB2	PLAUR	Q03405	864
SERPINB2	POSTN	Q15063	853
SERPINB2	FKBP5	Q13451	742
SERPINB2	FKBP4	Q02790	704
SERPINB2	IL13	P35225	655
SERPINB2	VTN	P01141	640
SERPINB2	ALB	P02768	606
SERPINB2	SLC20A1	Q8WUM9	588
SERPINB2	PSMB1	P20618	547
SERPINB2	CDKN1A	P38936	534
SERPINB2	SERPINE1	P05121	515

IntAct

82 interactions, top by confidence:

A	B	Type	Score
ASH2L	KMT2D	psi-mi:“MI:0914”(association)	0.890
POLR2L	RCCD1	psi-mi:“MI:0914”(association)	0.640
CFAP298	PEX7	psi-mi:“MI:0914”(association)	0.620
CA8	IGLL5	psi-mi:“MI:0914”(association)	0.530
YES1	AIP	psi-mi:“MI:0914”(association)	0.530
CCDC51	TGM5	psi-mi:“MI:0914”(association)	0.530
RBM24	PPL	psi-mi:“MI:0914”(association)	0.530
KIR3DS1	PPL	psi-mi:“MI:0914”(association)	0.530
GDF5	SERPINB7	psi-mi:“MI:0914”(association)	0.530
YES1	SERPINB2	psi-mi:“MI:0914”(association)	0.530
SPICE1	SERPINB2	psi-mi:“MI:0914”(association)	0.530
SSBP2	CLEC18A	psi-mi:“MI:0914”(association)	0.530
MANSC1	SMPD2	psi-mi:“MI:0914”(association)	0.530
PI4KA	A2ML1	psi-mi:“MI:0914”(association)	0.350
CCNYL1	A2ML1	psi-mi:“MI:0914”(association)	0.350
GPATCH2L	A2ML1	psi-mi:“MI:0914”(association)	0.350
DDX19B	IGLL5	psi-mi:“MI:0914”(association)	0.350
VAV1	CHEK1	psi-mi:“MI:0914”(association)	0.350
FCF1	SULT2B1	psi-mi:“MI:0914”(association)	0.350
SERPINB2	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
KHDC4	IGKC	psi-mi:“MI:0914”(association)	0.350
SPICE1	ARG1	psi-mi:“MI:0914”(association)	0.350
GABARAPL1		psi-mi:“MI:0914”(association)	0.350
SRRT	A2ML1	psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (158): SERPINB2 (Affinity Capture-MS), SERPINB2 (Affinity Capture-MS), SERPINB2 (Affinity Capture-MS), SERPINB2 (Affinity Capture-MS), SERPINB2 (Affinity Capture-MS), SERPINB2 (Affinity Capture-MS), ITPA (Co-fractionation), PLAT (Affinity Capture-MS), PPP1R12A (Affinity Capture-MS), RAPGEF6 (Affinity Capture-MS), HDLBP (Affinity Capture-MS), SERPINB2 (Affinity Capture-MS), RSPRY1 (Affinity Capture-MS), PTK2 (Affinity Capture-MS), TAB1 (Affinity Capture-MS)

ESM2 similar proteins: A0A090BX51, A0A0K8RCY5, A0A0K8RJ89, A0A0K8RJV9, A0A7H0DNF9, B3RFC3, E2RVI8, O73860, O75635, P01008, P01012, P01014, P05120, P07092, P07093, P07385, P0DSW3, P12388, P13909, P14754, P15059, P19104, P20961, P22777, P22922, P42926, P50449, P68565, P68566, P79335, P80034, Q06B72, Q06B74, Q06B75, Q07235, Q27085, Q27086, Q5MGH0, Q5R5A3, Q6J201

Diamond homologs: A0A090BX51, A0A0K8RCY5, A0A0K8RJ89, A0A0K8RJV9, A5PJK0, A9RA96, B0CMB0, B1MTB7, B1MTC3, B2KI30, B3RFC3, B4USX2, E2RVI8, O02739, O08800, O35684, O54757, O54758, O54759, O54760, O73790, O73860, O75635, O75830, P01008, P01011, P01012, P01014, P05120, P05619, P12388, P17475, P19104, P22323, P22325, P22922, P23035, P29508, P29524, P30740

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
F2RL1	“up-regulates quantity by expression”	SERPINB2	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	48
Likely benign	9
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1403561	NC_000018.9:g.(?59713089)(61654512_?)del	Pathogenic

SpliceAI

888 predictions. Top by Δscore:

Variant	Effect	Δscore
18:63891431:TCTAG:T	acceptor_loss	1.0000
18:63891432:CTAG:C	acceptor_loss	1.0000
18:63891433:TA:T	acceptor_loss	1.0000
18:63891434:A:AG	acceptor_gain	1.0000
18:63891434:AGA:A	acceptor_loss	1.0000
18:63891435:G:GA	acceptor_gain	1.0000
18:63891610:AAGG:A	donor_loss	1.0000
18:63891612:GGT:G	donor_loss	1.0000
18:63891613:G:GC	donor_loss	1.0000
18:63891614:T:A	donor_loss	1.0000
18:63895258:TTGCA:T	acceptor_loss	1.0000
18:63895259:TGCA:T	acceptor_loss	1.0000
18:63895260:GCAG:G	acceptor_loss	1.0000
18:63895358:G:T	donor_gain	1.0000
18:63897086:TCAA:T	acceptor_loss	1.0000
18:63897087:CAAG:C	acceptor_loss	1.0000
18:63897088:A:AG	acceptor_gain	1.0000
18:63897088:AAG:A	acceptor_gain	1.0000
18:63897088:AAGG:A	acceptor_loss	1.0000
18:63897089:A:G	acceptor_gain	1.0000
18:63897215:GGGAA:G	donor_gain	1.0000
18:63897216:GGAA:G	donor_gain	1.0000
18:63897216:GGAAG:G	donor_gain	1.0000
18:63897217:G:GT	donor_gain	1.0000
18:63897217:G:T	donor_gain	1.0000
18:63897220:G:GG	donor_gain	1.0000
18:63901735:TGTA:T	acceptor_loss	1.0000
18:63901738:A:AG	acceptor_gain	1.0000
18:63901738:A:C	acceptor_loss	1.0000
18:63901739:G:GG	acceptor_gain	1.0000

AlphaMissense

2767 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:63901826:T:A	W208R	0.988
18:63901826:T:C	W208R	0.988
18:63901828:G:C	W208C	0.979
18:63901828:G:T	W208C	0.979
18:63901868:T:C	F222L	0.973
18:63901870:C:A	F222L	0.973
18:63901870:C:G	F222L	0.973
18:63902492:T:C	L256P	0.961
18:63901827:G:C	W208S	0.958
18:63902937:T:A	W294R	0.957
18:63902937:T:C	W294R	0.957
18:63891544:A:C	S34R	0.956
18:63891546:C:A	S34R	0.956
18:63891546:C:G	S34R	0.956
18:63903054:T:C	F333L	0.955
18:63903056:C:A	F333L	0.955
18:63903056:C:G	F333L	0.955
18:63903162:G:C	A369P	0.954
18:63901838:T:C	F212L	0.949
18:63901840:T:A	F212L	0.949
18:63901840:T:G	F212L	0.949
18:63903237:T:C	F394L	0.949
18:63903239:T:A	F394L	0.949
18:63903239:T:G	F394L	0.949
18:63903219:T:C	F388L	0.946
18:63903221:T:A	F388L	0.946
18:63903221:T:G	F388L	0.946
18:63902486:T:C	L254P	0.944
18:63903226:C:A	A390E	0.939
18:63901869:T:C	F222S	0.938

dbSNP variants (sampled 300 via entrez): RS1000081400 (18:63886551 T>C), RS1000159137 (18:63891437 T>C), RS1000230797 (18:63891760 C>T), RS1000393730 (18:63896737 T>C), RS1000766192 (18:63896513 T>A,C), RS1000820498 (18:63900465 G>A), RS1000851577 (18:63900706 G>A,T), RS1001034269 (18:63889567 G>A,T), RS1001132778 (18:63885928 C>T), RS1001164524 (18:63890092 G>A), RS1001166815 (18:63886257 A>G,T), RS1001277177 (18:63892474 C>A), RS1001305772 (18:63894949 C>A,G), RS1001906799 (18:63896167 G>A,T), RS1002029382 (18:63903905 T>C)

Disease associations

OMIM: gene MIM:173390 | disease phenotypes: MIM:614080

GenCC curated gene-disease

Mondo (1): multiple congenital anomalies-hypotonia-seizures syndrome 1 (MONDO:0013563)

Orphanet (1): Multiple congenital anomalies-hypotonia-seizures syndrome (Orphanet:280633)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST004977_2	Hen’s egg allergy	8.000000e-08
GCST005168_5	Systolic blood pressure	6.000000e-06
GCST007994_21	Asthma (age of onset)	5.000000e-08
GCST007995_7	Asthma (childhood onset)	3.000000e-16
GCST008156_29	Hip circumference adjusted for BMI	5.000000e-07
GCST008156_98	Hip circumference adjusted for BMI	1.000000e-06
GCST008916_98	Asthma	2.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007018	egg allergy measurement
EFO:0006335	systolic blood pressure
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	increases expression, affects reaction, increases reaction, affects cotreatment, increases stability (+1 more)	19
Particulate Matter	increases expression, affects cotreatment, decreases expression, increases abundance	14
Tobacco Smoke Pollution	decreases expression, increases expression, affects expression	10
Benzo(a)pyrene	increases expression, affects methylation, decreases expression	6
Tretinoin	increases expression, increases reaction, decreases expression, decreases reaction	4
Cadmium Chloride	increases abundance, increases expression, increases reaction, decreases reaction, affects reaction	4
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	3
3,4,5,3’,4’-pentachlorobiphenyl	increases expression, decreases reaction	3
Air Pollutants	increases abundance, increases expression	3
Vehicle Emissions	decreases expression, increases abundance, increases expression	3
Estradiol	affects cotreatment, decreases expression	3
Progesterone	affects cotreatment, decreases expression	3
Silicon Dioxide	increases expression	3
Aflatoxin B1	increases expression, affects expression	3
alpha-naphthoflavone	decreases reaction, increases expression, increases reaction, decreases expression	2
dimethylarsinous acid	increases expression	2
Cadmium	increases reaction, decreases reaction, increases abundance, increases expression, decreases expression	2
Cannabidiol	increases expression	2
Doxorubicin	affects response to substance, decreases expression	2
Lipopolysaccharides	increases expression, decreases reaction	2
Oxygen	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	decreases expression, increases expression	2
Raloxifene Hydrochloride	decreases expression, increases expression	2
Nanotubes, Carbon	decreases expression	2
Glupearl 19S	increases expression	1
PF-06840003	decreases reaction, increases expression	1
TL8-506	affects cotreatment, increases expression	1
4-oxoretinoic acid	decreases expression	1
lasiocarpine	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1UC	Abcam U-87MG SERPINB2 KO	Cancer cell line	Male
CVCL_F1TS	HyCyte SW480 KO-hSERPINB2	Cancer cell line	Male

Clinical trials (associated diseases)

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