SERPINA11

Summary

SERPINA11 (serpin family A member 11, HGNC:19193) is a protein-coding gene on chromosome 14q32.13, encoding Serpin A11 (Q86U17).

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space.

Source: NCBI Gene 256394 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hydrops fetalis (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 81 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001080451

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19193
Approved symbol	SERPINA11
Name	serpin family A member 11
Location	14q32.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000186910
Ensembl biotype	protein_coding
OMIM	619619
Entrez	256394

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000334708, ENST00000850861, ENST00000905969, ENST00000905970, ENST00000962370

RefSeq mRNA: 2 — MANE Select: NM_001080451 NM_001080451, NM_001429948

CCDS: CCDS32149

Canonical transcript exons

ENST00000334708 — 5 exons

Exon	Start	End
ENSE00001337813	94443078	94443225
ENSE00001337815	94446331	94446604
ENSE00001337817	94442464	94442809
ENSE00004282538	94452729	94452800
ENSE00004282539	94448132	94448777

Expression profiles

Bgee: expression breadth broad, 50 present calls, max score 98.04.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.5676 / max 1066.5413, expressed in 71 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144746	2.4196	63
144747	0.1106	19
144745	0.0263	8
144744	0.0111	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.04	gold quality
liver	UBERON:0002107	97.86	gold quality
minor salivary gland	UBERON:0001830	59.52	gold quality
saliva-secreting gland	UBERON:0001044	57.10	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	45.94	silver quality
esophagus mucosa	UBERON:0002469	44.85	gold quality
thoracic mammary gland	UBERON:0005200	44.02	gold quality
blood	UBERON:0000178	43.66	gold quality
lymph node	UBERON:0000029	42.81	gold quality
skin of abdomen	UBERON:0001416	42.19	gold quality
islet of Langerhans	UBERON:0000006	41.71	gold quality
colonic epithelium	UBERON:0000397	41.43	gold quality
placenta	UBERON:0001987	41.38	gold quality
endocervix	UBERON:0000458	41.20	gold quality
prefrontal cortex	UBERON:0000451	40.63	gold quality
tonsil	UBERON:0002372	39.61	gold quality
zone of skin	UBERON:0000014	39.60	gold quality
vermiform appendix	UBERON:0001154	39.52	silver quality
ganglionic eminence	UBERON:0004023	39.10	silver quality
granulocyte	CL:0000094	38.46	gold quality
bone marrow cell	CL:0002092	38.16	gold quality
lower esophagus mucosa	UBERON:0035834	38.12	gold quality
sural nerve	UBERON:0015488	38.01	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	37.79	silver quality
skin of leg	UBERON:0001511	37.75	gold quality
duodenum	UBERON:0002114	37.45	silver quality
prostate gland	UBERON:0002367	37.05	gold quality
mucosa of transverse colon	UBERON:0004991	36.83	gold quality
uterine cervix	UBERON:0000002	36.67	gold quality
pancreas	UBERON:0001264	36.60	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting SERPINA11, 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-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-3920	97.75	69.02	1168

Literature-anchored findings (GeneRIF, showing 1)

• SERPINA11 related novel serpinopathy - A perinatal lethal disorder. (PMID:38831697)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Serpina11	ENSMUSG00000063232
rattus_norvegicus	Serpina11	ENSRNOG00000011141

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), SERPINA5 (ENSG00000188488), SERPINA3 (ENSG00000196136), SERPINA1 (ENSG00000197249), SERPINB2 (ENSG00000197632), SERPINB13 (ENSG00000197641), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), SERPINB5 (ENSG00000206075), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)

Protein

Protein identifiers

Serpin A11 — Q86U17 (reviewed: Q86U17)

All UniProt accessions (1): Q86U17

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the serpin family.

RefSeq proteins (2): NP_001073920, NP_001416877 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000215	Serpin_fam	Family
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 (8 total): glycosylation site 4, sequence variant 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86U17-F1	83.27	0.58

Functional residue map

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

Glycosylation sites (4): 94, 106, 169, 350

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 36 (showing top): chr14q32, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_PEPTIDASE_REGULATOR_ACTIVITY, BOCHKIS_FOXA2_TARGETS, GOMF_SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY, GOMF_ENZYME_INHIBITOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, CHEN_METABOLIC_SYNDROM_NETWORK, GOMF_ENDOPEPTIDASE_REGULATOR_ACTIVITY, HHEX_TARGET_GENES, HMG20B_TARGET_GENES, LCORL_TARGET_GENES, ZSCAN2_TARGET_GENES, GSE10239_KLRG1INT_VS_KLRG1HIGH_EFF_CD8_TCELL_DN, MIR3922_3P

GO Biological Process (0):

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

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
enzyme inhibitor activity	1
peptidase activity	1
peptidase regulator activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

626 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SERPINA11	FAM20A	Q96MK3	470
SERPINA11	MXRA8	Q9BRK3	443
SERPINA11	PRSS23	O95084	440
SERPINA11	WFS1	O76024	424
SERPINA11	DIRC1	Q969H9	423
SERPINA11	POU2AF3	A8K830	384
SERPINA11	FRMD5	Q7Z6J6	378
SERPINA11	OR1J4	Q8NGS1	356
SERPINA11	ERC2	O15083	353
SERPINA11	CDC25C	P30307	353
SERPINA11	WEE1	P30291	353
SERPINA11	GULP1	Q9UBP9	353
SERPINA11	TYW3	Q6IPR3	352
SERPINA11	EIF2B3	Q9NR50	351
SERPINA11	LRRC66	Q68CR7	343

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SERPINA11	RPL6	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (2): SERPINA11 (Proximity Label-MS), SERPINA11 (Affinity Capture-MS)

ESM2 similar proteins: A2I7N3, A6QPQ2, A6QQ92, A8MV23, B0UYL8, B2D1U1, E1BF81, P01017, P01019, P05154, P05155, P05545, P07758, P07759, P08185, P08697, P09006, P20757, P22323, P23035, P23775, P26595, P28800, P29621, P29622, P36955, P49920, P50448, P50451, P97298, Q00896, Q00898, Q03734, Q09055, Q5I2A0, Q5R9E3, Q5RDA8, Q60396, Q61247, Q63556

Diamond homologs: A2I7M9, A2I7N0, A2I7N1, A2I7N2, A2I7N3, A6QPQ2, B2D1U1, E1BF81, O00394, O54757, O54758, O54759, O54760, O54761, O54762, O54763, O75830, P01009, P01010, P01011, P05154, P05543, P05544, P05545, P05619, P07758, P07759, P08185, P09005, P09006, P12725, P17475, P20848, P22323, P22324, P22325, P22599, P23035, P23775, P26595

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	69
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
631492	NM_001080451.2(SERPINA11):c.672C>A (p.Tyr224Ter)	Likely pathogenic

SpliceAI

762 predictions. Top by Δscore:

Variant	Effect	Δscore
14:94443077:CCTT:C	donor_loss	1.0000
14:94443221:ACAGA:A	acceptor_gain	1.0000
14:94443222:CAGA:C	acceptor_gain	1.0000
14:94443222:CAGAC:C	acceptor_gain	1.0000
14:94443223:AGA:A	acceptor_gain	1.0000
14:94443224:GA:G	acceptor_gain	1.0000
14:94443224:GACTG:G	acceptor_loss	1.0000
14:94443225:ACTGG:A	acceptor_loss	1.0000
14:94443226:C:CC	acceptor_gain	1.0000
14:94452727:A:AC	donor_gain	1.0000
14:94452728:C:CC	donor_gain	1.0000
14:94446600:CTTGG:C	acceptor_gain	0.9900
14:94446606:T:C	acceptor_gain	0.9900
14:94452725:TTA:T	donor_loss	0.9900
14:94452726:TAC:T	donor_loss	0.9900
14:94452727:ACAGA:A	donor_loss	0.9900
14:94452728:C:CA	donor_loss	0.9900
14:94452728:CA:C	donor_gain	0.9900
14:94452728:CAG:C	donor_gain	0.9900
14:94452728:CAGA:C	donor_gain	0.9900
14:94452728:CAGAG:C	donor_gain	0.9900
14:94443076:A:AC	donor_gain	0.9800
14:94443077:C:CC	donor_gain	0.9800
14:94446606:T:TC	acceptor_gain	0.9800
14:94452723:ACTT:A	donor_loss	0.9800
14:94442808:ACCTA:A	acceptor_loss	0.9700
14:94442809:CCTA:C	acceptor_loss	0.9700
14:94442810:C:CG	acceptor_loss	0.9700
14:94442811:T:C	acceptor_loss	0.9700
14:94443225:ACTG:A	acceptor_gain	0.9700

AlphaMissense

2751 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:94442681:G:C	F398L	0.958
14:94442681:G:T	F398L	0.958
14:94442683:A:G	F398L	0.958
14:94446599:A:G	W217R	0.950
14:94446599:A:T	W217R	0.950
14:94448538:G:C	S79R	0.943
14:94448538:G:T	S79R	0.943
14:94448540:T:G	S79R	0.943
14:94446585:G:C	F221L	0.940
14:94446585:G:T	F221L	0.940
14:94446587:A:G	F221L	0.940
14:94446418:A:T	V277D	0.939
14:94446460:A:T	V263D	0.932
14:94448460:G:C	F105L	0.930
14:94448460:G:T	F105L	0.930
14:94448462:A:G	F105L	0.930
14:94446353:A:G	W299R	0.929
14:94446353:A:T	W299R	0.929
14:94448418:G:C	F119L	0.913
14:94448418:G:T	F119L	0.913
14:94448420:A:G	F119L	0.913
14:94446597:C:A	W217C	0.908
14:94446597:C:G	W217C	0.908
14:94448349:G:C	F142L	0.901
14:94448349:G:T	F142L	0.901
14:94448351:A:G	F142L	0.901
14:94442648:G:C	S409R	0.899
14:94442648:G:T	S409R	0.899
14:94442650:T:G	S409R	0.899
14:94446351:C:A	W299C	0.895

dbSNP variants (sampled 300 via entrez): RS1000050003 (14:94454428 A>C), RS1000056043 (14:94453062 T>C), RS1000451141 (14:94447428 C>T), RS1000851432 (14:94442119 C>T), RS1000918997 (14:94447721 A>C,G), RS1001004730 (14:94453427 A>G), RS1001055314 (14:94453245 A>G), RS1001510280 (14:94451291 G>A,C), RS1001511883 (14:94454161 G>T), RS1001652869 (14:94446514 A>G), RS1001730900 (14:94451618 G>A), RS1001743758 (14:94448749 A>G,T), RS1002433461 (14:94444824 A>T), RS1002517930 (14:94452949 G>A,T), RS1003133366 (14:94454296 A>G)

Disease associations

OMIM: gene MIM:619619 | disease phenotypes: MIM:236750

GenCC curated gene-disease

Disease	Classification	Inheritance
hydrops fetalis	Limited	Autosomal recessive

Mondo (3): non-immune hydrops fetalis (MONDO:0009369), pericardial effusion (MONDO:0001370), hydrops fetalis (MONDO:0015193)

Orphanet (1): Non-immune hydrops fetalis (Orphanet:363999)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001698	Pericardial effusion

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001613_6	Antineutrophil cytoplasmic antibody-associated vasculitis	2.000000e-09
GCST006585_744	Blood protein levels	2.000000e-20

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D015160	Hydrops Fetalis	C12.050.703.277.060.480; C15.378.295.480; C15.378.420.826.100.350; C16.300.060.480; C16.320.365.826.100.350; C20.306.480; C23.888.277.395
D010490	Pericardial Effusion	C14.280.695

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, affects methylation, decreases expression	4
methyleugenol	decreases expression	1
bisphenol A	affects expression	1
sodium arsenite	decreases expression	1
benazol P	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Allergens	increases expression	1
Diethylhexyl Phthalate	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00247052	PHASE4	COMPLETED	Non Steroidal Anti Inflammatory Treatment for Post Operative Pericardial Effusion
NCT01266694	PHASE4	COMPLETED	Cochicine Treatment for Post- Operative Pericardial Effusion
NCT02260206	PHASE4	COMPLETED	Impact of Colchicine Therapy on Arrhythmia Recurrence After Acute Pericardial Effusion
NCT05077111	PHASE4	UNKNOWN	A Comparative Study Between Regional Anesthesia in Thoracoscopes and the Conventional General Anesthesia
NCT01552187	PHASE3	UNKNOWN	COlchicine for Prevention of the Post-pericardiotomy Syndrome and Post-operative Atrial Fibrillation (COPPS-2 Trial)
NCT02673879	PHASE3	UNKNOWN	IMPI 2 - A Trial of Intrapericardial Alteplase in Large Pericardial Effusion
NCT02986698	PHASE1	TERMINATED	In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)
NCT00143039	Not specified	TERMINATED	Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR
NCT02956564	Not specified	UNKNOWN	Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment
NCT03376438	Not specified	COMPLETED	Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia
NCT03412760	Not specified	ACTIVE_NOT_RECRUITING	Hydrops: Diagnosing & Redefining Outcomes With Precision Study
NCT03775954	Not specified	RECRUITING	Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise
NCT04308603	Not specified	COMPLETED	Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel Sequencing
NCT05528796	Not specified	ENROLLING_BY_INVITATION	Uncovering the Etiologies of Non-immune Hydrops Fetalis
NCT00684125	Not specified	COMPLETED	Evaluation of Different Strategies of Pericardial Drainage After Aortic Valvular Surgery
NCT01665495	Not specified	UNKNOWN	Drainage or Pericardiocentesis (DROP) Alone for Recurrent Non-malignant Pericardial Effusions Requiring Intervention
NCT02045641	Not specified	COMPLETED	Pleural and Pericardial Effusion Following Open Heart Surgery
NCT02808897	Not specified	COMPLETED	Active Clearance of Chest Tubes After Cardiac Surgery: A Prospective Randomized Controlled Study
NCT03327688	Not specified	COMPLETED	Point-of-care Ultrasound in Finland
NCT03887286	Not specified	COMPLETED	Focused Cardiac Ultrasound
NCT04279327	Not specified	UNKNOWN	Cell Block Immunohistochemistry in Effusion Cytology
NCT04464655	Not specified	RECRUITING	A 10-Minute Cardiovascular Magnetic Resonance Protocol for Cardiac Disease
NCT05061914	Not specified	COMPLETED	Surgical Options for Management of Pericardial Effusion
NCT05146492	Not specified	UNKNOWN	Pericardial Effusion From Acute Myocardial Infarction: Contributing Factors and Prognosis at One Year (EPERICARDIM)
NCT06159985	Not specified	RECRUITING	Effect of Left Posterior Pericardiotomy for the Prevention of POAF
NCT06293924	Not specified	ENROLLING_BY_INVITATION	Pericardial Fluid Analysis in Recurrent Pericarditis
NCT06972836	Not specified	ACTIVE_NOT_RECRUITING	Safety and Efficacy of Awake Uniportal Video Assisted Thoracoscopic Modified Pericardial Window in Recurrent Pericardial Effusion at Mid Term Result
NCT07159269	Not specified	RECRUITING	Cardiac point-of Care Ultrasound Training Pathway for Emergency Department Advanced Practice Providers