SERPINA10

Summary

SERPINA10 (serpin family A member 10, HGNC:15996) is a protein-coding gene on chromosome 14q32.13, encoding Protein Z-dependent protease inhibitor (Q9UK55). Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids.

The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 51156 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_001100607

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15996
Approved symbol	SERPINA10
Name	serpin family A member 10
Location	14q32.13
Locus type	gene with protein product
Status	Approved
Aliases	PZI, ZPI
Ensembl gene	ENSG00000140093
Ensembl biotype	protein_coding
OMIM	605271
Entrez	51156

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 22 protein_coding

ENST00000261994, ENST00000393096, ENST00000554173, ENST00000554723, ENST00000903617, ENST00000903618, ENST00000903619, ENST00000903620, ENST00000903621, ENST00000903622, ENST00000903623, ENST00000903624, ENST00000903625, ENST00000903626, ENST00000903627, ENST00000903628, ENST00000903629, ENST00000903630, ENST00000903631, ENST00000903632, ENST00000943554, ENST00000943555

RefSeq mRNA: 2 — MANE Select: NM_001100607 NM_001100607, NM_016186

CCDS: CCDS9923

Canonical transcript exons

ENST00000261994 — 5 exons

Exon	Start	End
ENSE00000659995	94288286	94288559
ENSE00001011193	94286108	94286258
ENSE00001405297	94293189	94293268
ENSE00003661726	94289876	94290643
ENSE00003734021	94280460	94284156

Expression profiles

Bgee: expression breadth ubiquitous, 106 present calls, max score 98.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5342 / max 754.1363, expressed in 25 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144684	0.6670	20
144686	0.5039	19
144685	0.3093	17
144682	0.0271	8
144687	0.0143	6
144683	0.0125	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.40	gold quality
liver	UBERON:0002107	98.32	gold quality
islet of Langerhans	UBERON:0000006	71.96	gold quality
pancreas	UBERON:0001264	58.54	gold quality
right ovary	UBERON:0002118	57.38	gold quality
mucosa of stomach	UBERON:0001199	56.91	gold quality
left ovary	UBERON:0002119	56.28	gold quality
ovary	UBERON:0000992	55.95	gold quality
ectocervix	UBERON:0012249	55.64	gold quality
muscle layer of sigmoid colon	UBERON:0035805	55.40	gold quality
uterine cervix	UBERON:0000002	55.19	gold quality
endocervix	UBERON:0000458	55.00	gold quality
right uterine tube	UBERON:0001302	54.59	gold quality
body of stomach	UBERON:0001161	52.74	gold quality
stomach	UBERON:0000945	52.59	gold quality
body of pancreas	UBERON:0001150	52.06	gold quality
adrenal tissue	UBERON:0018303	51.88	gold quality
duodenum	UBERON:0002114	51.75	gold quality
fundus of stomach	UBERON:0001160	51.57	gold quality
left uterine tube	UBERON:0001303	50.77	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	50.76	gold quality
colon	UBERON:0001155	49.91	gold quality
rectum	UBERON:0001052	49.88	gold quality
superior frontal gyrus	UBERON:0002661	49.58	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	49.01	gold quality
lower esophagus muscularis layer	UBERON:0035833	48.72	gold quality
lower esophagus	UBERON:0013473	48.69	gold quality
smooth muscle tissue	UBERON:0001135	48.50	gold quality
intestine	UBERON:0000160	48.04	gold quality
Brodmann (1909) area 9	UBERON:0013540	48.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.04

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXM1, ONECUT1

miRNA regulators (miRDB)

31 targeting SERPINA10, 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-3646	100.00	73.56	5283
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-7844-5P	99.55	68.56	1428
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-7153-3P	99.00	65.35	608
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-943	97.81	64.42	694
HSA-MIR-4327	97.21	67.71	676
HSA-MIR-216B-5P	97.16	66.76	1126
HSA-MIR-4433A-5P	96.79	65.01	599
HSA-MIR-4727-3P	96.75	64.97	415
HSA-MIR-4652-5P	96.46	64.22	553

Literature-anchored findings (GeneRIF, showing 29)

• the catalytic residue of fXa is required for interaction with ZPI (PMID:16079143)
• protein Z-dependent protease inhibitor may be an unusual physiologic regulator of both the intrinsic factor x-ase and the prothrombinase complexes. (PMID:16093243)
• Our study supports that the ZPI Arg67Stop nonsense polymorphism might be an independent genetic risk factor for venous thrombosis. This polymorphism has slightly lower prevalence but similar thrombotic risk than the FV Leiden or prothrombin 20210A. (PMID:16527896)
• a new R67Q mutation is found (PMID:17582153)
• ZPI functions like other serpins to regulate the activity of FXa but in a manner uniquely dependent on protein Z, procoagulant membranes, and pH (PMID:18768472)
• Data show that the structural model of ZPI/FXa is compatible with available experimental information regarding the importance for the inhibitory action of certain basic residues in FXa. (PMID:19172319)
• PROTEIN A AND PZI WERE FOUND IN KIDNEY TUBULES BY IMMUNOHISTOCHEMISTRY (PMID:20024489)
• Data show that mutation of four ZPI contact residues eliminated PZ binding and membrane-dependent PZ acceleration of fXa inhibition. (PMID:20427285)
• present in loco in human breast cancer tissue (PMID:20458435)
• heparin activates ZPI to inhibit free factor Xa as well as factor XIa and therefore may play a physiologically and pharmacologically important role in ZPI anticoagulant function. (PMID:21220417)
• Medium expression of ZPI(IRS=6.5), together with weak expression of PZ(IRS=4), was observed in cancer cells. (PMID:21975032)
• The results demonstrate that both ZPI R67X and W303X non-sense variants and specific ZPI haplotypes are significantly associated with recurrent spontaneous miscarriage. (PMID:22039093)
• Plasma ZPI levels were unchanged in non-pregnant recurrent miscarriage women, while the plasma PZ level was slightly reduced, a finding consistent with existing reports. (PMID:22274138)
• Report two missense mutations identified in venous thrombosis patients impair the inhibitory function of the ZPI were not convincingly associted with thrombosis risk. (PMID:22399118)
• localization of PZ/ZPI and FX in colon cancer cells indicates that PZ/ZPI may contribute to anticoagulant events at the tumor site. (PMID:22424030)
• heparin-binding site of ZPI was mapped: basic residues of both helices C and D of ZPI interact with heparin to modulate the inhibitory function of the serpin. (PMID:22540147)
• The study shows by Ala-scanning mutagenesis of the ZPI-binding interface, together with native PAGE and kinetic analyses of PZ binding to ZPI, that Tyr240 and Asp293 of ZPI are crucial hot spots for PZ binding. (PMID:22786881)
• the PZ/ZPI complex may play some modulating role in hemophilia A (PMID:23269381)
• structural features within residues of the 39-loop contribute to the resistance of FIXa to inhibition by plasma inhibitors ZPI and TFPI. (PMID:23530052)
• Protein Z/protein Z-dependent protease inhibitor and Fxa expression in human gastric cancer cells indicate that these proteins may play a role in anticoagulant events at the tumor tissue. (PMID:24158387)
• The unbalance between PZ and ZPI in plasma samples from patients with Colorectal Cancer or Pancreatic Cancer is not only related to an inflammatory state but could also results from an ectopic synthesis of these proteins by the cancer cells. (PMID:24315319)
• Protein Z EGF2 subdomain constitutes an interactive-site for ZPI protein. (PMID:24960590)
• Results show the energetic basis of the Z-dependent protease inhibitor (ZPI)-protein Z (PZ) interaction and suggest an important role for ZPI Lys-239 in PZ catalytic action. (PMID:25713144)
• rs2232710 SNV showed no association with DVT in two Dutch replication cohorts the LETS study and the MEGA study, indicating that the rs2232710 variant is not a risk factor for DVT (PMID:26982741)
• Data suggest oxidized lipid vesicles with phosphatidylserine/polyunsaturated fatty acids promote inactivation of ZPI-PZ complex or free ZPI; binding of PZ-complexed or free ZPI to oxidized vesicles mediates inactivation of ZPI (an inhibitor of FXa); blocking heparin- (anticoagulant-)binding site on ZPI interferes with binding to lipid or PZ. (ZPI = protein Z-dependent protease inhibitor; PZ = protein Z; FXa = factor Xa) (PMID:28717005)
• PZ/ZPI polymorphisms do not appear to play an active role in the development of prosthesis heart valve thrombosis. (PMID:29302946)
• these results suggest an important anticoagulant role for the ZPI-PZ complex in regulating both free FXa generated in the initiation phase of coagulation as well as prothrombinase-bound FXa in the propagation phase that complement prothrombinase regulation by APC. (PMID:30918026)
• Plasma concentration of protein Z-dependent protease inhibitor and ZPI exon 3 mutations in preeclampsia. (PMID:33427552)
• Heparin activation of protein Z-dependent protease inhibitor (ZPI) allosterically blocks protein Z activation through an extended heparin-binding site. (PMID:35551912)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	serpina10a	ENSDARG00000005924
danio_rerio	serpina10b	ENSDARG00000036968
mus_musculus	Serpina10	ENSMUSG00000061947
rattus_norvegicus	Serpina10	ENSRNOG00000050761

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), 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), SERPINB2 (ENSG00000197632), SERPINB13 (ENSG00000197641), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), SERPINB5 (ENSG00000206075), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)

Protein

Protein identifiers

Protein Z-dependent protease inhibitor — Q9UK55 (reviewed: Q9UK55)

Alternative names: Serpin A10

All UniProt accessions (2): Q9UK55, G3V2W1

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors.

Subunit / interactions. Interacts with PROZ.

Subcellular location. Secreted.

Tissue specificity. Expressed by the liver and secreted in plasma.

Post-translational modifications. Phosphorylated by FAM20C in the extracellular medium.

Miscellaneous. Heparin acts as an important cofactor, producing 20 to 100-fold accelerations of SERPINA10 reactions with factor Xa and factor XIa.

Similarity. Belongs to the serpin family.

RefSeq proteins (2): NP_001094077, NP_057270 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000215	Serpin_fam	Family
IPR023796	Serpin_dom	Domain
IPR033835	PZI_serpin_dom	Domain
IPR036186	Serpin_sf	Homologous_superfamily
IPR042178	Serpin_sf_1	Homologous_superfamily
IPR042185	Serpin_sf_2	Homologous_superfamily

Pfam: PF00079

UniProt features (60 total): strand 19, helix 13, sequence variant 10, glycosylation site 4, turn 4, site 3, region of interest 2, signal peptide 1, chain 1, mutagenesis site 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
4AFX	X-RAY DIFFRACTION	2.09
3F1S	X-RAY DIFFRACTION	2.3
4AJU	X-RAY DIFFRACTION	2.65
3H5C	X-RAY DIFFRACTION	3.26

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UK55-F1	87.41	0.79

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 (3): 261 (essential for interaction with proz); 314 (essential for interaction with proz); 408–409 (reactive bond)

Post-translational modifications (1): 56

Glycosylation sites (4): 180, 197, 295, 36

Mutagenesis-validated functional residues (1):

Position	Phenotype
408	loss of inhibitory activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
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-9769739	Regulation of clotting cascade

MSigDB gene sets: 91 (showing top): GOBP_SINGLE_FERTILIZATION, HNF1_Q6, GOBP_WOUND_HEALING, STEARMAN_TUMOR_FIELD_EFFECT_UP, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GOMF_GLYCOSAMINOGLYCAN_BINDING, GOBP_REGULATION_OF_ACROSOME_REACTION, HNF1_C, GOBP_ACROSOME_REACTION, GOBP_HEMOSTASIS, KANG_IMMORTALIZED_BY_TERT_DN, GOBP_FERTILIZATION, HNF1_01, GOMF_HEPARIN_BINDING, chr14q32

GO Biological Process (2): blood coagulation (GO:0007596), hemostasis (GO:0007599)

GO Molecular Function (4): serine-type endopeptidase inhibitor activity (GO:0004867), heparin binding (GO:0008201), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)

GO Cellular Component (4): obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), extracellular exosome (GO:0070062), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of proteins	1
Post-translational protein modification	1
Coagulation pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hemostasis	1
wound healing	1
coagulation	1
regulation of body fluid levels	1
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
glycosaminoglycan binding	1
sulfur compound binding	1
binding	1
enzyme inhibitor activity	1
peptidase activity	1
peptidase regulator activity	1
endoplasmic reticulum	1
intracellular organelle lumen	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

902 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SERPINA10	PROZ	P22891	928
SERPINA10	CTRB2	Q6GPI1	667
SERPINA10	F10	P00742	654
SERPINA10	CTRB1	P17538	633
SERPINA10	PLG	P00747	609
SERPINA10	ELANE	P08246	603
SERPINA10	CTSG	P08311	597
SERPINA10	PLAT	P00750	574
SERPINA10	ITIH3	Q06033	563
SERPINA10	PPP4R4	Q6NUP7	484
SERPINA10	OR1Q1	Q15612	476
SERPINA10	FGG	P02679	474
SERPINA10	ITIH1	P19827	474
SERPINA10	FGA	P02671	452
SERPINA10	FAM20A	Q96MK3	447

IntAct

28 interactions, top by confidence:

A	B	Type	Score
SERPINA10	PROZ	psi-mi:“MI:0407”(direct interaction)	0.650
MCL1	PRKAB2	psi-mi:“MI:0914”(association)	0.640
SERPINA10	F10	psi-mi:“MI:0407”(direct interaction)	0.560
SERPINA10	MIA3	psi-mi:“MI:0915”(physical association)	0.560
CD300E	SPPL2B	psi-mi:“MI:0914”(association)	0.530
SERPINA10	FAM20C	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
F11	F11	psi-mi:“MI:0915”(physical association)	0.400
GUCA1C	SERPINA10	psi-mi:“MI:0915”(physical association)	0.400
PIAS3	SERPINA10	psi-mi:“MI:0915”(physical association)	0.370
SERPINA10	PLAT	psi-mi:“MI:0914”(association)	0.350
RGS2	METAP2	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
DLK2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
EMC9	OGA	psi-mi:“MI:0914”(association)	0.350
ACSM5	CLUH	psi-mi:“MI:0914”(association)	0.350
TRPT1	STRIP1	psi-mi:“MI:0914”(association)	0.350
CPM	CBX6	psi-mi:“MI:0914”(association)	0.350
SERPINA10	NADK	psi-mi:“MI:0914”(association)	0.350

BioGRID (21): PLAT (Affinity Capture-MS), MIA3 (Affinity Capture-MS), CTAGE5 (Affinity Capture-MS), SERPINA10 (Affinity Capture-MS), SERPINA10 (Affinity Capture-MS), SERPINA10 (Affinity Capture-MS), SERPINA10 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), SERPINA10 (Affinity Capture-MS), SERPINA10 (Affinity Capture-MS), PLAT (Affinity Capture-MS), SERPINA10 (Affinity Capture-MS), SERPINA10 (Affinity Capture-MS), CTAGE5 (Affinity Capture-MS), NADK (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

736 predictions. Top by Δscore:

Variant	Effect	Δscore
14:94290640:CTTC:C	acceptor_gain	1.0000
14:94283985:C:CT	donor_gain	0.9900
14:94286106:AC:A	donor_gain	0.9900
14:94286107:CC:C	donor_gain	0.9900
14:94286259:C:CC	acceptor_gain	0.9900
14:94288280:TTGTA:T	donor_loss	0.9900
14:94288281:TGTAC:T	donor_loss	0.9900
14:94288282:GTACC:G	donor_loss	0.9900
14:94288283:TACCT:T	donor_loss	0.9900
14:94288284:A:C	donor_loss	0.9900
14:94288285:C:CG	donor_loss	0.9900
14:94288560:C:CC	acceptor_gain	0.9900
14:94290641:TTC:T	acceptor_gain	0.9900
14:94290644:C:CC	acceptor_gain	0.9900
14:94290645:T:G	acceptor_loss	0.9900
14:94283958:T:TA	donor_gain	0.9800
14:94283986:C:CT	donor_gain	0.9800
14:94286102:ACTT:A	donor_loss	0.9800
14:94286103:CTT:C	donor_loss	0.9800
14:94286104:TTA:T	donor_loss	0.9800
14:94286105:TA:T	donor_loss	0.9800
14:94286106:A:AG	donor_loss	0.9800
14:94286107:C:CT	donor_loss	0.9800
14:94286254:TGTTT:T	acceptor_gain	0.9800
14:94286257:TTCTG:T	acceptor_loss	0.9800
14:94286258:TC:T	acceptor_loss	0.9800
14:94286259:CTGTG:C	acceptor_loss	0.9800
14:94286260:T:A	acceptor_loss	0.9800
14:94288555:TTTCC:T	acceptor_gain	0.9800
14:94288557:TCCCT:T	acceptor_loss	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000089446 (14:94294548 A>C), RS1000652686 (14:94285516 TACAC>T,TAC,TACACAC), RS1000918236 (14:94289133 T>G), RS1001248188 (14:94288060 A>G,T), RS1001396029 (14:94294895 T>C), RS1001594189 (14:94281361 G>A), RS1001698988 (14:94287819 C>T), RS1002034541 (14:94290694 T>G), RS1002067833 (14:94284990 C>A,G,T), RS1002092243 (14:94291905 A>C), RS1002273150 (14:94291563 C>G), RS1002503490 (14:94285299 C>A), RS1002530615 (14:94294756 T>C), RS1002590776 (14:94289250 CAG>C), RS1003561220 (14:94280179 A>T)

Disease associations

OMIM: gene MIM:605271 | disease phenotypes: MIM:249660, MIM:614199

GenCC curated gene-disease

Mondo (1): LAMB2-related infantile-onset nephrotic syndrome (MONDO:0013621)

Orphanet (1): LAMB2-related infantile-onset nephrotic syndrome (Orphanet:306507)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002945_50	Emphysema imaging phenotypes	1.000000e-08
GCST002945_8	Emphysema imaging phenotypes	1.000000e-06
GCST003262_842	Post bronchodilator FEV1	1.000000e-07
GCST003264_41	Post bronchodilator FEV1/FVC ratio	1.000000e-10
GCST004216_3	Waist-to-hip ratio adjusted for body mass index	5.000000e-08
GCST90020028_1875	Hip circumference adjusted for BMI	6.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007626	emphysema imaging measurement
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565405	Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	3
Acetaminophen	decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases expression, decreases methylation	2
2,4,6-tribromophenol	increases expression	1
methyleugenol	decreases expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
1-hydroxypyrene	affects cotreatment, decreases methylation	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Amiodarone	increases expression	1
Atrazine	increases expression	1
Diethylhexyl Phthalate	increases expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Lead	decreases expression	1
Methapyrilene	increases methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

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