LAMA5

Summary

LAMA5 (laminin subunit alpha 5, HGNC:6485) is a protein-coding gene on chromosome 20q13.33, encoding Laminin subunit alpha-5 (O15230). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523).

Source: NCBI Gene 3911 — RefSeq curated summary.

At a glance

• Gene–disease (curated): LAMA5-related multisystemic syndrome (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 10
• Clinical variants (ClinVar): 2,360 total — 8 pathogenic, 16 likely-pathogenic
• Phenotypes (HPO): 53
• Druggable target: yes
• MANE Select transcript: NM_005560

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6485
Approved symbol	LAMA5
Name	laminin subunit alpha 5
Location	20q13.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000130702
Ensembl biotype	protein_coding
OMIM	601033
Entrez	3911

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 retained_intron, 3 protein_coding_CDS_not_defined, 2 protein_coding, 1 nonsense_mediated_decay

ENST00000252999, ENST00000370677, ENST00000370691, ENST00000462415, ENST00000464134, ENST00000468786, ENST00000471042, ENST00000474128, ENST00000481120, ENST00000491036, ENST00000492698, ENST00000495695, ENST00000497053, ENST00000497363

RefSeq mRNA: 1 — MANE Select: NM_005560 NM_005560

CCDS: CCDS33502

Canonical transcript exons

ENST00000252999 — 80 exons

Exon	Start	End
ENSE00000897388	62310419	62310572
ENSE00000897441	62312888	62313010
ENSE00001591530	62316882	62317023
ENSE00001596708	62332557	62332717
ENSE00001617270	62333090	62333243
ENSE00001622903	62366949	62367312
ENSE00001624779	62319684	62319795
ENSE00001628519	62320559	62320669
ENSE00001630917	62329138	62329253
ENSE00001633945	62315028	62315207
ENSE00001635743	62316671	62316773
ENSE00001637463	62328844	62329055
ENSE00001639303	62327529	62327669
ENSE00001646359	62322019	62322168
ENSE00001653265	62318843	62319013
ENSE00001655361	62338468	62338608
ENSE00001658020	62331032	62331129
ENSE00001668273	62330488	62330614
ENSE00001671072	62338016	62338150
ENSE00001673813	62317345	62317499
ENSE00001679650	62323456	62323670
ENSE00001684418	62325316	62325546
ENSE00001686341	62333901	62334039
ENSE00001690195	62314304	62314440
ENSE00001690936	62322269	62322449
ENSE00001699058	62326865	62326966
ENSE00001700939	62327866	62328010
ENSE00001703467	62328241	62328445
ENSE00001718334	62309065	62309475
ENSE00001721911	62318454	62318650
ENSE00001732494	62320739	62320890
ENSE00001736657	62326677	62326760
ENSE00001742713	62333375	62333481
ENSE00001743768	62337590	62337727
ENSE00001753363	62314555	62314725
ENSE00001756290	62330743	62330944
ENSE00001757654	62338232	62338369
ENSE00001761863	62317662	62317778
ENSE00001763595	62329777	62329916
ENSE00001767007	62337804	62337938
ENSE00001771710	62314799	62314947
ENSE00001776024	62322658	62322758
ENSE00001785748	62333564	62333706
ENSE00001789995	62324441	62324554
ENSE00001790562	62334186	62334342
ENSE00001791759	62315948	62316058
ENSE00001798290	62327233	62327406
ENSE00001799288	62332372	62332480
ENSE00003463358	62334522	62334621
ENSE00003467771	62336734	62336786
ENSE00003474410	62309988	62310081
ENSE00003482433	62323776	62323856
ENSE00003497606	62336340	62336445
ENSE00003532462	62311401	62311536
ENSE00003624414	62310178	62310311
ENSE00003625689	62346682	62346800
ENSE00003627966	62324080	62324204
ENSE00003632951	62346913	62347028
ENSE00003641980	62311614	62311784
ENSE00003646354	62312173	62312316
ENSE00003650244	62335217	62335269
ENSE00003655078	62309716	62309835
ENSE00003658406	62312400	62312532
ENSE00003682961	62335021	62335126
ENSE00003694446	62351704	62351801
ENSE00003715629	62311920	62312050
ENSE00003716301	62311162	62311307
ENSE00003717885	62312632	62312780
ENSE00003718380	62362400	62362552
ENSE00003721327	62310665	62310829
ENSE00003722495	62313649	62313802
ENSE00003726252	62313327	62313460
ENSE00003732105	62313088	62313250
ENSE00003741612	62345818	62345877
ENSE00003741939	62310902	62311094
ENSE00003745466	62351909	62352079
ENSE00003747809	62346506	62346596
ENSE00003748883	62353134	62353251
ENSE00003751511	62352242	62352360
ENSE00003751879	62346081	62346215

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 99.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.5355 / max 661.7975, expressed in 1503 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188260	24.8541	1463
188259	4.0253	1067
209189	1.2895	777
188254	0.1881	87
188250	0.1786	86

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.22	gold quality
metanephros cortex	UBERON:0010533	99.19	gold quality
right lung	UBERON:0002167	99.07	gold quality
right coronary artery	UBERON:0001625	99.06	gold quality
cerebellar hemisphere	UBERON:0002245	99.06	gold quality
popliteal artery	UBERON:0002250	99.02	gold quality
tibial artery	UBERON:0007610	99.02	gold quality
cerebellar cortex	UBERON:0002129	98.97	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.92	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.89	gold quality
mucosa of stomach	UBERON:0001199	98.88	gold quality
upper lobe of left lung	UBERON:0008952	98.86	gold quality
aorta	UBERON:0000947	98.77	gold quality
skin of abdomen	UBERON:0001416	98.75	gold quality
right lobe of thyroid gland	UBERON:0001119	98.74	gold quality
lower esophagus	UBERON:0013473	98.72	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.72	gold quality
left lobe of thyroid gland	UBERON:0001120	98.70	gold quality
left uterine tube	UBERON:0001303	98.68	gold quality
left coronary artery	UBERON:0001626	98.64	gold quality
apex of heart	UBERON:0002098	98.64	gold quality
endocervix	UBERON:0000458	98.61	gold quality
skin of leg	UBERON:0001511	98.61	gold quality
body of uterus	UBERON:0009853	98.61	gold quality
descending thoracic aorta	UBERON:0002345	98.58	gold quality
upper lobe of lung	UBERON:0008948	98.56	gold quality
ectocervix	UBERON:0012249	98.55	gold quality
ascending aorta	UBERON:0001496	98.54	gold quality
thoracic aorta	UBERON:0001515	98.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-10283	yes	776.03
E-MTAB-6678	yes	16.19
E-ANND-3	yes	15.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting LAMA5, 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-12118	100.00	65.88	1270
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
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-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-12125	98.59	67.54	1044
HSA-MIR-6516-5P	98.42	70.19	1551
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-509-3P	98.12	67.25	612
HSA-MIR-216B-5P	97.16	66.76	1126
HSA-MIR-6895-5P	97.05	64.96	522
HSA-MIR-3914	94.91	65.77	643
HSA-MIR-6879-3P	93.93	64.00	759

Literature-anchored findings (GeneRIF, showing 40)

• Laminin-10/11 and fibronectin differentially prevent apoptosis induced by serum removal via phosphatidylinositol 3-kinase/Akt- and MEK1/ERK-dependent pathways (Laminin 10; separate entry for Laminin 11). (PMID:11891225)
• LN5 has a role in the differentiation of the tracheal epithelium in human embryos (PMID:12242717)
• LN6 and LN5 have distinct biological activities, but they may cooperatively support cell adhesion (PMID:12379663)
• role for laminin-5 during human embryogenesis, for example, for epithelial cell development, beyond its involvement in hemidesmosome formation and cell adhesion. (PMID:12382139)
• Laminins with alpha1, alph4, and alpha5 chains are compared to determine laminin isoform-specific promotion of adhesion and migration of human bone marrow progenitor cells. (PMID:12393739)
• Our results elucidate a mechanism whereby mesangial cells organize the glomerular capillaries by adhering to the G domain of laminin alpha5 in the glomerular basement membrane. (PMID:12682087)
• Data suggest that this alphavbeta3 binding to alpha5-laminins is involved in the regulation of cellular responses to growth factors known to be involved in epithelial and endothelial development. (PMID:12691260)
• Data suggest that laminin-10 (alpha5beta1gamma1) is required for hair follicle development and report the first use of exogenous protein to correct a cutaneous developmental defect. (PMID:12743034)
• Incubation of mouse macrophages with human laminin alpha5 chain peptide results in marked increase in matrix metalloproteinase-9 mRNA and gelatinolytic activity; this peptide is chemotactic for mouse neutrophils and macrophages in vitro and in vivo. (PMID:12817023)
• Autocrine LM-5 mediates anchorage-independent survival in breast tumors through ligation of a wild-type, but not a cytoplasmic tail-truncated alpha6beta4 integrin. (PMID:14691145)
• cAMP-Epac-Rap1 pathway regulates cell spreading and cell adhesion to laminin-5 through the alpha3beta1 integrin but not the alpha6beta4 integrin (PMID:15302884)
• alpha6beta4 can augment cell-cell adhesion and slow down haptotaxis over laminin-5 (PMID:15579904)
• prostate cancer cells expressing high levels of MT1-MMP have increased invasive potential through their ability to degrade and invade Ln-10 barriers (PMID:15967115)
• Protein kinase A-dependent phosphorylation of Lutheran/basal cell adhesion molecule glycoprotein regulates cell adhesion to laminin alpha5 (PMID:15975931)
• An increase was noted in LAMA5 immunostaining in the dilated muscle of the ganglionic bowel upstream the distal aganglionic region in a group of Hirschprung disease patients. (PMID:16226104)
• Data show that alpha6 and alpha3 integrin subunits interact with laminin 5 to increase expression of E-cadherin, and suggest that phosphoinositide 3-kinase (PI 3-kinase) activation plays a key role in this cross-talk. (PMID:16339173)
• Results describe the expression of laminin 5 by parental and c-Ha-ras-transformed HaCaT keratinocytes in organotypic cultures. (PMID:16460839)
• laminin 5 and p16INK4A have roles in wound healing and senescence (PMID:16723698)
• in natural HPV infection, proliferating keratinocytes expressing alpha6 integrin at the site of epithelial wounding might be targeted by virions adsorbed transiently to LN5 secreted by migrating keratinocytes (PMID:16940506)
• The results indicate that glioma cells secrete alpha2-, alpha4- and alpha5-laminins and that alpha3- and alpha5-laminins, selectively promote glioma cell migration and identify alpha3beta1 as the predominant integrin and laminin receptor in glioma cells. (PMID:17888902)
• Concomitant changes take place in laminin- and collagen-binding receptors. Laminin-411 reduces adhesion to laminin-511 and fibronectin, suggesting that tumor cells could utilize laminin-411 in their invasive behavior (PMID:18496706)
• alpha5-laminin was the most adhesion- and migration-promoting isoform for human blood lymphocytes, followed by alpha3- (Lm-332) and alpha4- (Lm-411) laminins. (PMID:18523231)
• These results suggest that laminins containing alpha 5 serve as functional substrates regulating progression of hepatocellular carcinoma. (PMID:18635166)
• results suggest an evolutionarily conserved role of a member of the laminin gene family in contributing to variation in weight and body composition (PMID:18694491)
• Cytoplasmic and basement membrane laminin is important in the pathogenesis and invasion of basal cell carcinoma. (PMID:19615022)
• Alpha3- and alpha5-laminins, but not other laminin isoforms, mediate mast cell adhesion via alpha3beta1 integrin. (PMID:19752234)
• Abnormal distribution of laminin alpha1 and laminin alpha5 in glomerular basement membrane is correlated with GBM thickening and splitting in human Alport’s syndrome. (PMID:20019771)
• Data from experiment with peptide fragments suggest laminin alpha5 (and laminin alpha4) may be part of host defense response and may protect tissues from invading pathogens. (PMID:20433883)
• investigated the relation between epithelial-mesenchymal transition criteria and laminin-332 expression in a cell culture model of transforming growth factor beta-1 (TGFbeta1)/epithelial growth factor (EGF) long time co-stimulation. (PMID:20819124)
• LAMA5 rs659822 regulates anthropometric and metabolic traits in elderly people (PMID:20951195)
• Data provides support for a primary role of laminin-511 and integrin beta-1 promoting hair follicle epithelial downgrowth without affecting dermal primary cilia and Shh target gene induction. (PMID:21067603)
• Data suggest that the alpha5 laminins emerge as putative primary extracellular matrix mediators of melanoma invasion and metastasis via alpha3/alpha6beta1 and other integrin receptors. (PMID:21195710)
• Polymorphisms in LN5 were associated with a reduced level of hemoglobin and neutropenia in non-small cell lung cancer. (PMID:21461966)
• Data indicate that the function-blocking antibody against Lu/B-CAM should be useful for not only investigating cell adhesion to laminin alpha5 but also for developing drugs to inhibit sickle cell vaso-occlusion. (PMID:21858073)
• PDGF-BB is not superior to laminin as a potential marker of advanced CP. (PMID:21921666)
• These results indicate specific laminin isoforms and integrins in maintenance of human embryonic stem cells pluripotency in feeder-dependent cultures. (PMID:22099024)
• mechanistic role of laminin-511 in tissue homeostasis (PMID:22666383)
• The laminin-5 staining pattern was significantly more often continuous in severe dysplasia/carcinoma-in-situ (PMID:23715200)
• Lutheran (Lu), also known as basal cell adhesion molecule (B-CAM), competes with integrins for binding to laminin alpha5, a subunit of LM-511, a major component of basement membranes. (PMID:24036115)
• Gal-1 decreased the expression of collagen genes COL3A1 and COL5A1 but increased the expression of fibronectin and laminin 5. (PMID:24503541)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lama5	ENSDARG00000058543
mus_musculus	Lama5	ENSMUSG00000015647
rattus_norvegicus	Lama5	ENSRNOG00000053691

Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), ATRNL1 (ENSG00000107518), LAMA4 (ENSG00000112769), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)

Protein

Protein identifiers

Laminin subunit alpha-5 — O15230 (reviewed: O15230)

Alternative names: Laminin-10 subunit alpha, Laminin-11 subunit alpha, Laminin-15 subunit alpha

All UniProt accessions (3): O15230, A0A087WYH7, H7C5J6

UniProt curated annotations — full annotation on UniProt →

Function. Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signaling and PTK2B/PYK2.

Subunit / interactions. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-5 is a subunit of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523).

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.

Tissue specificity. Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no expression in brain and liver. Expressed in muscle, ligaments, periosteum, trabecular bone and throughout the cartilage, particularly in the growth plate and in articular chondrocytes.

Disease relevance. Nephrotic syndrome 26 (NPHS26) [MIM:620049] A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS26 is an autosomal recessive form characterized by onset of proteinuria in the first months or years of life. Some patients respond to steroids, whereas others show steroid resistance and progression to end-stage renal disease. The disease is caused by variants affecting the gene represented in this entry. Bent bone dysplasia syndrome 2 (BBDS2) [MIM:620076] An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. Domain G is globular and is part of the major cell-binding site located in the long arm of the laminin heterotrimer.

Isoforms (2)

UniProt ID	Names	Canonical?
O15230-1	1	yes
O15230-2	2

RefSeq proteins (1): NP_005551* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000034	Laminin_IV	Domain
IPR000742	EGF	Domain
IPR001368	TNFR/NGFR_Cys_rich_reg	Domain
IPR001791	Laminin_G	Domain
IPR002049	LE_dom	Domain
IPR008211	Laminin_N	Domain
IPR009254	Laminin_aI	Domain
IPR010307	Laminin_dom_II	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR050440	Laminin/Netrin_ECM	Family
IPR056863	LMN_ATRN_NET-like_EGF	Domain

Pfam: PF00052, PF00053, PF00054, PF00055, PF02210, PF06008, PF06009, PF24973

UniProt features (234 total): disulfide bond 88, strand 41, domain 30, sequence variant 26, glycosylation site 23, helix 10, region of interest 4, coiled-coil region 3, splice variant 2, short sequence motif 2, signal peptide 1, chain 1, sequence conflict 1, turn 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5XAU	X-RAY DIFFRACTION	1.8
7CEC	ELECTRON MICROSCOPY	3.9

Predicted structure (AlphaFold)

No AlphaFold model available for O15230 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Antibody-complex structures (SAbDab): 1 — 7CEC

Functional residue map

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

Disulfide bonds (88): 778–797, 799–808, 811–826, 829–841, 831–848, 850–859, 1438–1450, 1440–1457, 1459–1468, 1471–1481, 1484–1491, 1486–1498, 1500–1509, 1512–1525, 1528–1543, 1530–1550, 1552–1561, 1564–1574, 1577–1589, 1579–1596 …

Glycosylation sites (23): 95, 143, 243, 452, 479, 900, 921, 959, 1330, 1529, 1555, 2196, 2209, 2303, 2423, 2501, 2568, 2707, 3107, 3209 …

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-1474228	Degradation of the extracellular matrix
R-HSA-3000157	Laminin interactions
R-HSA-3000171	Non-integrin membrane-ECM interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling
R-HSA-8874081	MET activates PTK2 signaling
R-HSA-9638630	Attachment of bacteria to epithelial cells
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)
R-HSA-9925563	Developmental Lineage of Pancreatic Ductal Cells
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-1474244	Extracellular matrix organization
R-HSA-162582	Signal Transduction
R-HSA-168256	Immune System
R-HSA-449147	Signaling by Interleukins
R-HSA-6806834	Signaling by MET
R-HSA-8875878	MET promotes cell motility
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases

MSigDB gene sets: 457 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_GLAND_MORPHOGENESIS, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_SALIVARY_GLAND_DEVELOPMENT, GCANCTGNY_MYOD_Q6, DITTMER_PTHLH_TARGETS_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, CAGCTG_AP4_Q5, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY

GO Biological Process (26): branching involved in ureteric bud morphogenesis (GO:0001658), morphogenesis of a polarized epithelium (GO:0001738), hair follicle development (GO:0001942), cell adhesion (GO:0007155), integrin-mediated signaling pathway (GO:0007229), muscle organ development (GO:0007517), morphogenesis of embryonic epithelium (GO:0016331), cell migration (GO:0016477), regulation of cell adhesion (GO:0030155), lung development (GO:0030324), regulation of cell migration (GO:0030334), substrate adhesion-dependent cell spreading (GO:0034446), trunk neural crest cell migration (GO:0036484), odontogenesis of dentin-containing tooth (GO:0042475), regulation of embryonic development (GO:0045995), skeletal system morphogenesis (GO:0048705), regulation of epithelial cell proliferation (GO:0050678), cilium assembly (GO:0060271), branching involved in salivary gland morphogenesis (GO:0060445), protein localization to plasma membrane (GO:0072659), postsynapse organization (GO:0099173), neural crest cell migration (GO:0001755), kidney development (GO:0001822), animal organ morphogenesis (GO:0009887), system development (GO:0048731), branching morphogenesis of an epithelial tube (GO:0048754)

GO Molecular Function (6): integrin binding (GO:0005178), receptor ligand activity (GO:0048018), signaling receptor binding (GO:0005102), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515), cell adhesion mediator activity (GO:0098631)

GO Cellular Component (13): extracellular region (GO:0005576), basement membrane (GO:0005604), laminin-332 trimer (GO:0005610), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), extracellular matrix (GO:0031012), neuromuscular junction (GO:0031594), synaptic cleft (GO:0043083), laminin-511 trimer (GO:0043259), laminin-521 trimer (GO:0043260), extracellular exosome (GO:0070062), extracellular matrix of synaptic cleft (GO:0098965), glutamatergic synapse (GO:0098978)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Extracellular matrix organization	4
Signaling by Interleukins	1
MET promotes cell motility	1
Biofilm formation	1
Non-integrin membrane-ECM interactions	1
Developmental Cell Lineages of the Exocrine Pancreas	1
Immune System	1
Cytokine Signaling in Immune system	1
Signaling by Receptor Tyrosine Kinases	1
Signaling by MET	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
laminin trimer	3
morphogenesis of an epithelium	2
animal organ development	2
cell adhesion	2
signaling receptor binding	2
cell adhesion molecule binding	2
extracellular matrix	2
cellular anatomical structure	2
synapse	2
branching morphogenesis of an epithelial tube	1
ureteric bud morphogenesis	1
hair cycle process	1
anatomical structure development	1
skin epidermis development	1
cellular process	1
cell surface receptor signaling pathway	1
muscle structure development	1
embryonic morphogenesis	1
cell motility	1
regulation of cellular process	1
respiratory tube development	1
respiratory system development	1
cell migration	1
regulation of cell motility	1
cell-substrate adhesion	1
neural crest cell migration	1
trunk segmentation	1
odontogenesis	1
embryo development	1
regulation of multicellular organismal development	1
skeletal system development	1
animal organ morphogenesis	1
regulation of cell population proliferation	1
epithelial cell proliferation	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1

Protein interactions and networks

STRING

2237 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LAMA5	ITGA6	P23229	868
LAMA5	BCAM	P50895	846
LAMA5	LAMC1	P11047	822
LAMA5	LAMB1	P07942	781
LAMA5	ITGB1	P05556	774
LAMA5	COL4A1	P02462	710
LAMA5	COL4A2	P08572	691
LAMA5	NID1	P14543	687
LAMA5	FN1	P02751	652
LAMA5	COL6A1	P12109	652
LAMA5	LAMA4	Q16363	648
LAMA5	COL4A5	P29400	646
LAMA5	COL12A1	Q99715	624
LAMA5	COL6A2	P12110	619
LAMA5	DAG1	Q14118	617

IntAct

136 interactions, top by confidence:

A	B	Type	Score
ARRDC1	WWP2	psi-mi:“MI:0914”(association)	0.850
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
BCAM	LAMA5	psi-mi:“MI:0914”(association)	0.640
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
ODAPH	TCAF2	psi-mi:“MI:0914”(association)	0.530
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
DKK3	NME4	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
LRRTM4	AP3B1	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
LAIR2	LAMA5	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
DAG1	LAMA5	psi-mi:“MI:0407”(direct interaction)	0.440
LAMA5	PLEC	psi-mi:“MI:0915”(physical association)	0.400
LAMA5	HOXA1	psi-mi:“MI:0915”(physical association)	0.370
SMAD2	LAMA5	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (146): LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMA5 (Co-fractionation), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMC1 (Co-localization), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS), LAMA5 (Affinity Capture-MS)

ESM2 similar proteins: A0JP86, A1A5Y0, A4D0S4, G5ECE3, O15230, P11046, P15215, P15800, P16144, P18563, P18564, P19137, P24043, P25391, P26010, P26011, P55268, P58459, P97607, Q13751, Q13753, Q16787, Q1EHB3, Q1RPR6, Q2KIT5, Q2QI47, Q5RB89, Q60438, Q60675, Q61001, Q61087, Q61092, Q61292, Q61789, Q68SA9, Q6AYF4, Q75N90, Q863C4, Q8BG22, Q8HZI9

Diamond homologs: A0JP86, A2ASQ1, G5ECE3, O00468, O00634, O09118, O15230, O75445, O75882, O95631, P02468, P11047, P15215, P19137, P24043, P25304, P25391, P31696, P34710, P97927, Q00174, Q01635, Q13751, Q13753, Q16363, Q16787, Q18823, Q19981, Q1LVF0, Q24567, Q24568, Q27262, Q2HXW4, Q2QI47, Q5RB89, Q5VV63, Q60675, Q61001, Q61087, Q61092

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
LAMA5	“form complex”	Laminin-10	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 140 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.

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	7	10.8×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2360 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	16
Uncertain significance	1043
Likely benign	802
Benign	288

Top pathogenic / likely-pathogenic (24)

Variant ID	HGVS	Classification
1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	Pathogenic
1707488	NM_005560.6(LAMA5):c.1282+1G>A	Pathogenic
1707489	NM_005560.6(LAMA5):c.9232C>T (p.Arg3078Ter)	Pathogenic
1707490	NM_005560.6(LAMA5):c.8158C>T (p.Arg2720Ter)	Pathogenic
2444312	NM_005560.6(LAMA5):c.6883C>T (p.Gln2295Ter)	Pathogenic
3117515	NM_005560.6(LAMA5):c.3364C>T (p.Gln1122Ter)	Pathogenic
4531761	NM_005560.6(LAMA5):c.3012_3013dup (p.Val1005fs)	Pathogenic
4537018	NM_005560.6(LAMA5):c.2341_2342del (p.Arg781fs)	Pathogenic
1077028	NM_005560.6(LAMA5):c.9700_9728del (p.Leu3234fs)	Likely pathogenic
1077029	NM_005560.6(LAMA5):c.8488G>A (p.Ala2830Thr)	Likely pathogenic
1077030	NM_005560.6(LAMA5):c.5315C>T (p.Thr1772Met)	Likely pathogenic
1077032	NM_005560.6(LAMA5):c.1538G>A (p.Gly513Glu)	Likely pathogenic
1077035	NM_005560.6(LAMA5):c.4315G>A (p.Gly1439Ser)	Likely pathogenic
2429886	NM_005560.6(LAMA5):c.5071G>T (p.Glu1691Ter)	Likely pathogenic
2446390	NM_005560.6(LAMA5):c.7036_7037del (p.Gln2346fs)	Likely pathogenic
2446391	NM_005560.6(LAMA5):c.4300G>A (p.Gly1434Arg)	Likely pathogenic
2498385	NM_005560.6(LAMA5):c.5071del (p.Glu1691fs)	Likely pathogenic
3256690	NM_005560.6(LAMA5):c.8477dup (p.Gln2827fs)	Likely pathogenic
3377297	NM_005560.6(LAMA5):c.10739_10743dup (p.Arg3582fs)	Likely pathogenic
4072274	NM_005560.6(LAMA5):c.6271C>T (p.Arg2091Ter)	Likely pathogenic
4278109	NM_005560.6(LAMA5):c.4364G>A (p.Gly1455Asp)	Likely pathogenic
4278218	NM_005560.6(LAMA5):c.298G>A (p.Gly100Ser)	Likely pathogenic
4292615	NM_005560.6(LAMA5):c.5791C>T (p.Arg1931Ter)	Likely pathogenic
4849351	NM_005560.6(LAMA5):c.1336C>T (p.Arg446Ter)	Likely pathogenic

SpliceAI

12397 predictions. Top by Δscore:

Variant	Effect	Δscore
20:62308013:T:TA	acceptor_gain	1.0000
20:62308016:CCCA:C	acceptor_loss	1.0000
20:62308018:CA:C	acceptor_loss	1.0000
20:62308019:A:AG	acceptor_gain	1.0000
20:62308019:AG:A	acceptor_loss	1.0000
20:62308019:AGT:A	acceptor_gain	1.0000
20:62308019:AGTG:A	acceptor_gain	1.0000
20:62308020:G:GT	acceptor_gain	1.0000
20:62308020:GT:G	acceptor_gain	1.0000
20:62308020:GTG:G	acceptor_gain	1.0000
20:62308020:GTGG:G	acceptor_gain	1.0000
20:62308020:GTGGA:G	acceptor_gain	1.0000
20:62308021:T:TA	acceptor_gain	1.0000
20:62308022:G:A	acceptor_gain	1.0000
20:62308174:AGCAG:A	donor_loss	1.0000
20:62308175:GCAG:G	donor_gain	1.0000
20:62308178:GGTA:G	donor_loss	1.0000
20:62308179:G:GG	donor_gain	1.0000
20:62308363:TGCAG:T	acceptor_loss	1.0000
20:62308364:GCAG:G	acceptor_loss	1.0000
20:62308466:GGGCG:G	donor_gain	1.0000
20:62308467:GGCG:G	donor_gain	1.0000
20:62308467:GGCGG:G	donor_gain	1.0000
20:62308468:GCG:G	donor_gain	1.0000
20:62308468:GCGG:G	donor_gain	1.0000
20:62308471:G:GG	donor_gain	1.0000
20:62308471:GT:G	donor_loss	1.0000
20:62308472:TAAGT:T	donor_loss	1.0000
20:62308643:A:AG	acceptor_gain	1.0000
20:62308643:AAC:A	acceptor_gain	1.0000

AlphaMissense

23908 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:62346950:C:A	W345C	0.999
20:62346950:C:G	W345C	0.999
20:62351755:C:G	C302S	0.999
20:62351756:A:T	C302S	0.999
20:62351790:G:C	S290R	0.999
20:62351790:G:T	S290R	0.999
20:62351792:T:G	S290R	0.999
20:62351988:C:G	R260P	0.999
20:62352284:G:C	C215W	0.999
20:62352285:C:G	C215S	0.999
20:62352286:A:G	C215R	0.999
20:62352286:A:T	C215S	0.999
20:62353147:C:A	W185C	0.999
20:62353147:C:G	W185C	0.999
20:62353149:A:G	W185R	0.999
20:62353149:A:T	W185R	0.999
20:62353194:A:G	W170R	0.999
20:62353194:A:T	W170R	0.999
20:62362466:C:A	W128C	0.999
20:62362466:C:G	W128C	0.999
20:62346918:C:G	C356S	0.998
20:62346919:A:T	C356S	0.998
20:62351754:G:C	C302W	0.998
20:62351756:A:G	C302R	0.998
20:62351784:C:A	K292N	0.998
20:62351784:C:G	K292N	0.998
20:62351788:A:T	I291N	0.998
20:62351979:A:G	F263S	0.998
20:62351985:A:G	L261P	0.998
20:62352285:C:T	C215Y	0.998

dbSNP variants (sampled 300 via entrez): RS1000040444 (20:62340358 C>A), RS1000130114 (20:62364548 C>T), RS1000137079 (20:62331530 C>T), RS1000168325 (20:62353259 C>A,T), RS1000174947 (20:62366277 G>A), RS1000230996 (20:62363965 C>T), RS1000286076 (20:62323982 G>A,T), RS1000288179 (20:62317363 AGCTGGCCCAGCT>A), RS1000393299 (20:62329767 T>C), RS1000432278 (20:62364117 G>A), RS1000470314 (20:62359059 T>C), RS1000529654 (20:62333216 C>G,T), RS1000561190 (20:62308847 T>C,G), RS1000622498 (20:62360220 G>T), RS1000639663 (20:62339488 G>A,C,T)

Disease associations

OMIM: gene MIM:601033 | disease phenotypes: MIM:620076, MIM:620049, MIM:236100

GenCC curated gene-disease

Disease	Classification	Inheritance
LAMA5-related multisystemic syndrome	Definitive	Autosomal recessive
nephrotic syndrome, IIa 26	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
LAMA5-related multisystemic syndrome	Definitive	AR

Mondo (11): nephrotic syndrome (MONDO:0005377), bent bone dysplasia syndrome 2 (MONDO:0859573), presynaptic congenital myasthenic syndrome (MONDO:0700466), multiple sclerosis (MONDO:0005301), prostate cancer (MONDO:0008315), nephrotic syndrome, IIa 26 (MONDO:0031061), LAMA5-related multisystemic syndrome (MONDO:0033856), focal segmental glomerulosclerosis (MONDO:0100313), polymicrogyria (MONDO:0000087), holoprosencephaly (MONDO:0016296), omphalocele (MONDO:0019015)

Orphanet (7): Presynaptic congenital myasthenic syndromes (Orphanet:98914), Familial prostate cancer (Orphanet:1331), LAMA5-related multisystemic syndrome (Orphanet:521450), Polymicrogyria (Orphanet:35981), Holoprosencephaly (Orphanet:2162), Omphalocele (Orphanet:660), NON RARE IN EUROPE: Multiple sclerosis (Orphanet:802)

HPO phenotypes

53 total (30 of 53 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000049	Shawl scrotum
HP:0000054	Micropenis
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000100	Nephrotic syndrome
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000474	Thickened nuchal skin fold
HP:0000476	Cystic hygroma
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000773	Short ribs
HP:0000879	Short sternum
HP:0000883	Thin ribs
HP:0000926	Platyspondyly
HP:0000938	Osteopenia
HP:0000969	Edema
HP:0001511	Intrauterine growth retardation
HP:0001631	Atrial septal defect
HP:0001762	Talipes equinovarus
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis
HP:0002027	Abdominal pain
HP:0002240	Hepatomegaly
HP:0002315	Headache
HP:0002586	Peritonitis
HP:0002804	Arthrogryposis multiplex congenita
HP:0002866	Hypoplastic iliac wing
HP:0002980	Femoral bowing

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000843_2	Colorectal cancer	2.000000e-10
GCST001942_4	Prostate cancer	4.000000e-08
GCST002411_6	Colorectal cancer	3.000000e-11
GCST002919_19	Colorectal cancer	3.000000e-11
GCST003226_19	Pelvic organ prolapse	6.000000e-06
GCST007856_47	Colorectal cancer or advanced adenoma	1.000000e-26
GCST008059_188	Estimated glomerular filtration rate	3.000000e-12
GCST011053_14	Neuroblastoma (pediatric)	8.000000e-14
GCST012490_375	Femur bone mineral density x serum urate levels interaction	3.000000e-08
GCST90002400_307	Plateletcrit	3.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007985	platelet crit

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D005923	Glomerulosclerosis, Focal Segmental	C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640
D016142	Holoprosencephaly	C05.660.207.410; C10.500.034.875; C16.131.077.410; C16.131.260.380; C16.131.621.207.410; C16.131.666.034.875; C16.320.180.380
D009103	Multiple Sclerosis	C10.114.375.500; C10.314.350.500; C20.111.258.250.500
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643
D065706	Polymicrogyria	C10.500.507.500.500; C16.131.666.507.500.500
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2364187 (PROTEIN COMPLEX GROUP)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	4
Tobacco Smoke Pollution	affects expression, decreases expression	4
bisphenol A	decreases expression, affects expression, affects cotreatment, increases methylation	3
sodium arsenite	decreases expression, increases expression	3
Particulate Matter	increases abundance, affects expression, increases reaction, decreases expression	3
bisphenol F	affects cotreatment, increases methylation, decreases expression	2
Cisplatin	affects expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
tremortin	decreases expression	1
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
deoxynivalenol	decreases expression	1
lead acetate	decreases expression	1
titanium dioxide	affects binding, increases expression	1
arsenite	affects binding, decreases reaction	1
cobaltous chloride	decreases secretion	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	increases expression	1
perfluorooctanoic acid	decreases expression	1
cupric chloride	decreases expression	1
phenanthrene	decreases expression	1
boric acid	increases expression	1
perfluorodecanoic acid	decreases expression	1
nivalenol	decreases expression	1
beta-methylcholine	affects expression	1

Cellosaurus cell lines

4 cell lines: 4 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9I9	Ubigene HEK293 LAMA5 KO	Transformed cell line	Female
CVCL_RY69	HEK293 rLN10	Transformed cell line	Female
CVCL_RY70	HEK293 rLN10_hNid1	Transformed cell line	Female
CVCL_VN83	HEK293 rLN10_hEcad	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00308321	PHASE4	UNKNOWN	Long Term Tapering or Standard Steroids for Nephrotic Syndrome
NCT01021540	PHASE4	COMPLETED	Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes
NCT01028287	PHASE4	COMPLETED	Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN)
NCT01162005	PHASE4	COMPLETED	Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children
NCT01895894	PHASE4	COMPLETED	Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome
NCT02238418	PHASE4	COMPLETED	Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria.
NCT02382575	PHASE4	UNKNOWN	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome
NCT02427880	PHASE4	COMPLETED	Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema
NCT03210688	PHASE4	COMPLETED	Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy
NCT03347357	PHASE4	COMPLETED	Pharmacokinetics of Tacrolimus in Children
NCT05696977	PHASE4	UNKNOWN	Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients
NCT05966818	PHASE4	UNKNOWN	Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome.
NCT06026787	PHASE4	COMPLETED	Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome
NCT00354731	PHASE3	COMPLETED	Efficacy of Pentoxifylline on Primary Nephrotic Syndrome
NCT00615667	PHASE3	COMPLETED	Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS)
NCT00981838	PHASE3	COMPLETED	Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS)
NCT01197040	PHASE3	COMPLETED	Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome
NCT01309477	PHASE3	COMPLETED	The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS)
NCT02132195	PHASE3	COMPLETED	Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome
NCT02257697	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome
NCT02438982	PHASE3	COMPLETED	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome
NCT03141970	PHASE3	COMPLETED	Prednisolone Trial in Children Younger Than 4 Years
NCT03501459	PHASE3	UNKNOWN	Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome
NCT05079789	PHASE3	TERMINATED	Amiloride in Nephrotic Syndrome
NCT05716880	PHASE3	RECRUITING	Ketoanalogues for Muscle Mass Loss in Nephrotic Syndrome
NCT06635720	PHASE3	ACTIVE_NOT_RECRUITING	REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE)
NCT00001212	PHASE2	COMPLETED	Drug Therapy in Lupus Nephropathy
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NCT00004466	PHASE2	TERMINATED	Pilot Study of Atorvastatin in Children With Chronic Hyperlipidemia Secondary to Nephrotic Syndrome
NCT00004990	PHASE2	COMPLETED	Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis
NCT00977977	PHASE2	RECRUITING	Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy
NCT02394106	PHASE2	TERMINATED	Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome
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NCT02966717	PHASE2	UNKNOWN	Rituximab Combined With MSCs in the Treatment of PNS (3-4 Stage of CKD)
NCT03004001	PHASE2	TERMINATED	Effect of PCSK9-Antibody (Alirocumab) on Dyslipidemia Secondary to Nephrotic Syndrome
NCT03949855	PHASE2	RECRUITING	Belimumab With Rituximab for Primary Membranous Nephropathy
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NCT06983028	PHASE2	RECRUITING	Atacicept in Multiple Glomerular Diseases