FBN2

Summary

FBN2 (fibrillin 2, HGNC:3604) is a protein-coding gene on chromosome 5q23.3, encoding Fibrillin-2 (P35556). Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles.

The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly.

Source: NCBI Gene 2201 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital contractural arachnodactyly (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 38
• Clinical variants (ClinVar): 4,111 total — 44 pathogenic, 84 likely-pathogenic
• Phenotypes (HPO): 67
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001999

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3604
Approved symbol	FBN2
Name	fibrillin 2
Location	5q23.3
Locus type	gene with protein product
Status	Approved
Aliases	DA9
Ensembl gene	ENSG00000138829
Ensembl biotype	protein_coding
OMIM	612570
Entrez	2201

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 retained_intron, 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000262464, ENST00000502468, ENST00000507835, ENST00000508053, ENST00000508989, ENST00000511489, ENST00000514742, ENST00000703782, ENST00000703783, ENST00000703784, ENST00000703785, ENST00000703786, ENST00000703787, ENST00000706682, ENST00000939404, ENST00000939405

RefSeq mRNA: 1 — MANE Select: NM_001999 NM_001999

CCDS: CCDS34222

Canonical transcript exons

ENST00000262464 — 65 exons

Exon	Start	End
ENSE00001130334	128257909	128259829
ENSE00003459865	128376731	128376853
ENSE00003477332	128530595	128530693
ENSE00003481923	128519273	128519368
ENSE00003485096	128464724	128464921
ENSE00003499663	128369182	128369334
ENSE00003550772	128527872	128527967
ENSE00003589246	128374628	128374750
ENSE00003590581	128366377	128366430
ENSE00003677122	128536402	128536484
ENSE00003747050	128537350	128538245
ENSE00003888749	128318149	128318271
ENSE00003888781	128277880	128278005
ENSE00003888945	128301382	128301510
ENSE00003889041	128337997	128338122
ENSE00003889375	128335455	128335577
ENSE00003889448	128335988	128336113
ENSE00003889618	128300817	128300936
ENSE00003889669	128286718	128286849
ENSE00003889813	128278635	128278841
ENSE00003890126	128344385	128344510
ENSE00003890200	128263425	128263656
ENSE00003890404	128290732	128290884
ENSE00003890483	128328696	128328821
ENSE00003890773	128304957	128305082
ENSE00003890801	128349955	128350005
ENSE00003890996	128291529	128291654
ENSE00003891171	128378771	128378890
ENSE00003891437	128273840	128273968
ENSE00003891620	128305511	128305636
ENSE00003892132	128302973	128303089
ENSE00003892159	128311300	128311425
ENSE00003892185	128276038	128276160
ENSE00003892264	128338933	128339061
ENSE00003892286	128392018	128392155
ENSE00003892550	128357276	128357395
ENSE00003892586	128446481	128446606
ENSE00003892640	128408674	128408799
ENSE00003892841	128309247	128309399
ENSE00003892965	128345357	128345584
ENSE00003893034	128330573	128330695
ENSE00003893153	128288438	128288557
ENSE00003893259	128349347	128349472
ENSE00003893404	128334719	128334844
ENSE00003893596	128289127	128289252
ENSE00003893721	128332912	128333034
ENSE00003893857	128361723	128361848
ENSE00003893895	128312634	128312795
ENSE00003894108	128364600	128364725
ENSE00003894184	128289882	128289947
ENSE00003894380	128350868	128351005
ENSE00003894494	128271999	128272118
ENSE00003894646	128377752	128377877
ENSE00003894658	128274567	128274683
ENSE00003894862	128393135	128393368
ENSE00003894873	128309983	128310108
ENSE00003894997	128307135	128307203
ENSE00003895021	128305823	128305948
ENSE00003895354	128335170	128335295
ENSE00003895432	128318879	128319001
ENSE00003895513	128280192	128280317
ENSE00003895742	128311885	128311953
ENSE00003895772	128261736	128261907
ENSE00003896177	128287308	128287430
ENSE00003896178	128395122	128395274

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 97.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.3636 / max 1321.8586, expressed in 1270 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63239	30.6527	1202
63237	4.6322	932
63234	1.8638	750
63238	0.7097	339
63241	0.4878	310
63235	0.4776	123
63240	0.2815	176
63233	0.1901	81
63232	0.0281	14
63236	0.0204	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	97.94	gold quality
placenta	UBERON:0001987	97.89	gold quality
adrenal tissue	UBERON:0018303	96.68	gold quality
decidua	UBERON:0002450	93.90	gold quality
stromal cell of endometrium	CL:0002255	93.38	gold quality
heart right ventricle	UBERON:0002080	85.81	gold quality
embryo	UBERON:0000922	84.79	gold quality
monocyte	CL:0000576	80.12	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.09	gold quality
mononuclear cell	CL:0000842	79.86	gold quality
buccal mucosa cell	CL:0002336	79.72	gold quality
leukocyte	CL:0000738	79.45	gold quality
left ventricle myocardium	UBERON:0006566	77.28	silver quality
ganglionic eminence	UBERON:0004023	76.99	gold quality
apex of heart	UBERON:0002098	76.96	gold quality
ventricular zone	UBERON:0003053	76.60	gold quality
adrenal gland	UBERON:0002369	75.98	gold quality
cardiac ventricle	UBERON:0002082	75.76	gold quality
heart left ventricle	UBERON:0002084	75.59	gold quality
germinal epithelium of ovary	UBERON:0001304	75.35	gold quality
right adrenal gland cortex	UBERON:0035827	75.17	gold quality
right adrenal gland	UBERON:0001233	74.70	gold quality
periodontal ligament	UBERON:0008266	74.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.32	gold quality
adrenal cortex	UBERON:0001235	74.32	gold quality
left adrenal gland	UBERON:0001234	74.30	gold quality
bone marrow	UBERON:0002371	74.16	gold quality
pigmented layer of retina	UBERON:0001782	73.90	gold quality
retina	UBERON:0000966	73.89	gold quality
left adrenal gland cortex	UBERON:0035825	72.80	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	1000.42
E-MTAB-10018	yes	96.92
E-HCAD-10	yes	28.28
E-MTAB-9388	yes	11.11
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, E2F2, E2F3, E2F4, GLI1

miRNA regulators (miRDB)

188 targeting FBN2, 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-9-5P	100.00	72.28	2361
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Ten novel mutations have been identified in the critical region of FBN2, indicating a mutation detection rate of 75% in this limited region; none of the mutations altered amino acids in the calcium binding consensus sequence of EGF-like domains. (PMID:11754102)
• fibrillins can directly interact in an N- to C-terminal fashion to form homotypic fibrillin-1 or heterotypic fibrillin-1/fibrillin-2 microfibrils (PMID:12399449)
• there are distinct functions for fibrillin-2 in peripheral nerves (PMID:12429739)
• In kidney, liver, rib anlagen, notochord fibrillin-1 and fibrillin-2 are distributed differentially. Different roles for fibrillin-1 and -2 in the development of these structures. (PMID:12524050)
• Relaxin regulates its mRNA and protein expression by human dermal fibroblasts and murine fetal skin (PMID:12590922)
• No associations of intracranial aneurysm and FBN2 were found. (PMID:12750963)
• Results identify MAGP-2 binding regions in the N-terminal portion of fibrillin-1 and -2 molecules. (PMID:15131124)
• A comprehensive genetic analysis of FBN2 was performed in patients with Marfan syndrome or Marfan-related phenotypes. (PMID:16835936)
• ternary complex formation between fibrillin-1, fibulins, and tropoelastin demonstrated that fibulin-2 and -5 but much less fibulin-4, are able to act as molecular adaptors between fibrillin-1 and tropoelastin (PMID:17255108)
• Discrete domains of fibrillins-1 and -2 interact with lung fibroblast integrins and direct their migration in the presence of platelet-derived growth factor (PDGF)-A. (PMID:18006876)
• In 14 probands, 13 new and one previously described FBN2 mutation including a mutation in exon 17, expanding the region in which FBN2 mutations occur in CCA. (PMID:19006240)
• Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma. (PMID:19288010)
• EGFR, fibrillin-2, P-cadherin and AP2beta as biomarkers for rhabdomyosarcoma diagnostics. (PMID:19469909)
• A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly is reported. (PMID:19473076)
• Examine association between FBN2 SNPs and intracranial aneurysms in Japanese cohort. (PMID:19506372)
• Data show that in wound healing and sclerotic skin diseases, a marked increase of fibrillin-2 expression was found by immunohistology. (PMID:20195245)
• Data demonstrated that N-terminal fibrillin-2 epitopes are masked in postnatal microfibrils. (PMID:20404337)
• These results suggest that both fibrillin-1 and fibrillin-2 are essential for the formation of thick oxytalan fibers in the ciliary zonule. (PMID:21851253)
• There was no association of overall methylation of FBN2 in the serum DNA with age, maximal tumor size, extent of tumor, tumor site, histology, presence of lymph node metastasis, distant metastasis, or Dukes’ stage. (PMID:23060561)
• Fibrillin mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions (PMID:23133647)
• we demonstrate an important role for FBN1 and FBN2 in AIS pathogenesis. We show that rare variants are enriched in severely affected AIS patients and are significantly associated with curve severity. (PMID:24833718)
• Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. (PMID:24899048)
• DNA sequence variation within the FBN2 gene is associated with both Achilles tendon (AT) and anterior cruciate ligament (ACL) rupture. (PMID:25429546)
• The presence of the splice site mutation in FBN2 gene has been confirmed in a Japanese family with congenital contractural arachnodactyly complicated with aortic dilatation and dissection. (PMID:25975422)
• A novel missense mutation, c.3769T>C (p.C1257R) in FBN2 was identified responsible for the genetic cause in a family with congenital contractural arachnodactyly. (PMID:27196565)
• BAV patients have an increased FBN (especially FBN2) gene expression level in the ascending aorta, irrespective of dilatation, whereas MMP expression does not change significantly. (PMID:27634926)
• Study described a novel mutation seen in a family with three generations of congenital contractural arachnodactyly (CCA). Whole exome sequencing in two affected individuals identified a novel missense mutation in the FBN2 gene in all affected family members. (PMID:28379158)
• Decellularized lung scaffolds treated with FBN-2 and TN-C prior to re-epithelialization supported greater epithelial proliferation and tissue remodeling. (PMID:28662401)
• Case Report: femoral aneurysm in patient with FBN2 mutation. (PMID:29742989)
• Sequencing analysis showed a novel missense mutation in exon 30 of FBN2 gene [c.3973G>A, p.Asp1325Asn; Chr5 (g.127670862C>T) according to NM_001999.3] (PMID:29864108)
• No common variant of FBN2 was, however, found to be significantly associated with AIS. (PMID:30044367)
• The c.3528C>A (p.Asn1176Lys) variant of the FBN2 gene probably underlies the pathogenesis of CCA in our case of congenital contractural arachnodactyly (PMID:32335871)
• A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis. (PMID:32747207)
• Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome. (PMID:32900841)
• Fibrillin 2 gene knockdown inhibits invasion and migration of lung cancer cells. (PMID:33287941)
• Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly. (PMID:33638605)
• Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes. (PMID:34355836)
• POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1. (PMID:34411563)
• FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts. (PMID:35163744)
• The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. (PMID:35419902)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbn2a	ENSDARG00000051896
mus_musculus	Fbn2	ENSMUSG00000024598
rattus_norvegicus	Fbn2	ENSRNOG00000043219

Paralogs (2): FBN3 (ENSG00000142449), FBN1 (ENSG00000166147)

Protein

Protein identifiers

Fibrillin-2 — P35556 (reviewed: P35556)

All UniProt accessions (4): P35556, A0A9H4AZX0, D6RJI3, E9PHW4

UniProt curated annotations — full annotation on UniProt →

Function. Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. Hormone secreted by trophoblasts that promotes trophoblast invasiveness. Has glucogenic activity: is able to increase plasma glucose levels.

Subunit / interactions. Interacts with BMP2, BMP4, BMP7, BMP10 and GDF5. Interacts with MFAP2 and MFAP5. Interacts with ADAMTSL5. Interacts with MFAP4.

Subcellular location. Secreted Secreted. Extracellular space. Extracellular matrix Secreted.

Tissue specificity. Almost exclusively expressed in placenta. Expressed at much lower level in other tissues. Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch’s membrane and in the sclera. Not expressed in the neural retina. Present at high level in cytotrophoblasts as compared with syncytiotrophoblasts at 8-9 weeks of pregnancy (at protein level). Levels in the serum increase during pregnancy (at protein level).

Post-translational modifications. N-glycosylated. O-glycosylated on serine residues by POGLUT2 and POGLUT3.

Disease relevance. Contractural arachnodactyly, congenital (CCA) [MIM:121050] An autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears. The disease is caused by variants affecting the gene represented in this entry. Macular degeneration, early-onset (EOMD) [MIM:616118] An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the fibrillin family.

Isoforms (2)

UniProt ID	Names	Canonical?
P35556-1	1	yes
P35556-2	2

RefSeq proteins (1): NP_001990* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR013032	EGF-like_CS	Conserved_site
IPR017878	TB_dom	Domain
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR024731	NELL2-like_EGF	Domain
IPR026823	cEGF	Domain
IPR036773	TB_dom_sf	Homologous_superfamily
IPR040872	Fibrillin_U_N	Domain
IPR049388	FBN_EGF_N	Domain
IPR049883	NOTCH1_EGF-like	Domain
IPR052080	vWF_C/EGF_Fibrillin	Family

Pfam: PF00683, PF07645, PF12661, PF12662, PF12947, PF14670, PF18193, PF21364

UniProt features (300 total): disulfide bond 141, domain 56, sequence variant 45, glycosylation site 39, sequence conflict 8, splice variant 3, region of interest 3, chain 2, signal peptide 1, propeptide 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for P35556 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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 (141): 115–124, 119–130, 132–141, 149–159, 153–164, 166–175, 180–190, 184–196, 198–207, 280–292, 287–301, 303–316, 322–334, 329–343, 345–358, 498–510, 505–519, 521–533, 539–549, 544–558 …

Glycosylation sites (39): 2594, 2675, 2808, 298, 340, 492, 516, 555, 597, 638, 679, 832, 872, 977, 1095, 1112, 1180, 1222, 1263, 1347 …

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1474228	Degradation of the extracellular matrix
R-HSA-1566948	Elastic fibre formation
R-HSA-2129379	Molecules associated with elastic fibres

MSigDB gene sets: 469 (showing top): GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, LEE_NEURAL_CREST_STEM_CELL_DN, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_BONE_TRABECULA_MORPHOGENESIS, BENPORATH_ES_WITH_H3K27ME3, CHIBA_RESPONSE_TO_TSA_UP, TSENG_IRS1_TARGETS_UP, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TTTGTAG_MIR520D, MODULE_45, GOBP_OSTEOBLAST_DIFFERENTIATION, ATGCAGT_MIR217, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, MODULE_205

GO Biological Process (11): glucose metabolic process (GO:0006006), embryonic limb morphogenesis (GO:0030326), positive regulation of bone mineralization (GO:0030501), obsolete sequestering of TGFbeta in extracellular matrix (GO:0035583), glucose homeostasis (GO:0042593), camera-type eye development (GO:0043010), positive regulation of osteoblast differentiation (GO:0045669), embryonic eye morphogenesis (GO:0048048), bone trabecula formation (GO:0060346), signal transduction (GO:0007165), limb morphogenesis (GO:0035108)

GO Molecular Function (5): hormone activity (GO:0005179), extracellular matrix structural constituent (GO:0005201), calcium ion binding (GO:0005509), extracellular matrix constituent conferring elasticity (GO:0030023), protein binding (GO:0005515)

GO Cellular Component (3): microfibril (GO:0001527), extracellular region (GO:0005576), extracellular matrix (GO:0031012)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Extracellular matrix organization	2
Elastic fibre formation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hexose metabolic process	1
limb morphogenesis	1
embryonic appendage morphogenesis	1
bone mineralization	1
regulation of bone mineralization	1
positive regulation of ossification	1
positive regulation of biomineral tissue development	1
carbohydrate homeostasis	1
eye development	1
osteoblast differentiation	1
positive regulation of cell differentiation	1
regulation of osteoblast differentiation	1
embryonic organ morphogenesis	1
eye morphogenesis	1
skeletal system morphogenesis	1
trabecula formation	1
bone trabecula morphogenesis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
appendage morphogenesis	1
limb development	1
receptor ligand activity	1
structural molecule activity	1
extracellular matrix	1
metal ion binding	1
extracellular matrix structural constituent	1
structural molecule activity conferring elasticity	1
binding	1
elastic fiber	1
supramolecular fiber	1
cellular anatomical structure	1
external encapsulating structure	1

Protein interactions and networks

STRING

2418 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBN2	ELN	P15502	950
FBN2	MFAP2	P55001	948
FBN2	ADAMTS17	Q8TE56	902
FBN2	MFAP5	Q13361	879
FBN2	FN1	P02751	837
FBN2	FBN1	P35555	768
FBN2	ADAMTS10	Q9H324	761
FBN2	ADAMTSL5	Q6ZMM2	757
FBN2	MYH3	P11055	742
FBN2	TGFBR2	P37173	721
FBN2	TGFBR1	P36897	720
FBN2	MFAP3	P55082	716
FBN2	COL3A1	P02461	713
FBN2	MFAP1	P55081	686
FBN2	ADAMTS6	Q9UKP5	648

IntAct

75 interactions, top by confidence:

A	B	Type	Score
rep	GTF2F2	psi-mi:“MI:0914”(association)	0.730
KLK5	DENND11	psi-mi:“MI:0914”(association)	0.640
HRG	PLSCR1	psi-mi:“MI:0914”(association)	0.590
tat	PPM1G	psi-mi:“MI:0914”(association)	0.560
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
PRG3	ZNF324	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
GREM2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
AURKA	WDR62	psi-mi:“MI:0914”(association)	0.530
ZNF224	LRP4	psi-mi:“MI:0914”(association)	0.530
ZFP41	LRP4	psi-mi:“MI:0914”(association)	0.530
ZNF408	LRP4	psi-mi:“MI:0914”(association)	0.530
WNT7A	LDLR	psi-mi:“MI:0914”(association)	0.530
DBF4B	CDC7	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
FBN1	FBN2	psi-mi:“MI:0407”(direct interaction)	0.440
FBN2	FBN2	psi-mi:“MI:0407”(direct interaction)	0.440
FBN2	FN1	psi-mi:“MI:0407”(direct interaction)	0.440
ADAMTSL5	FBN2	psi-mi:“MI:0915”(physical association)	0.400
NLRP12	FBN2	psi-mi:“MI:0915”(physical association)	0.370
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
	FBN2	psi-mi:“MI:0914”(association)	0.350

BioGRID (77): FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS), FBN2 (Affinity Capture-MS)

ESM2 similar proteins: A1A5Y0, A2VCU8, A5A6L1, A6QR11, O00622, O42182, O57472, O73775, P18406, P23142, P35555, P35556, P53813, P59511, P98089, P98133, P98155, P98166, Q00968, Q08761, Q08879, Q09163, Q13219, Q2VWQ2, Q5R3Z7, Q61220, Q61554, Q61555, Q61592, Q62918, Q62919, Q7T3Q2, Q7ZXL5, Q8AWW5, Q8CFM6, Q8CJ69, Q8MJJ9, Q8N8U9, Q8R4K8, Q8R4Y4

Diamond homologs: A0A1U9VX91, A2AJ76, O08999, O43897, O57382, O57460, O75095, P13497, P35556, P98063, P98070, P98133, Q00918, Q14766, Q61555, Q62381, Q75N90, Q7KVA1, Q8C088, Q8CG19, Q8JI28, Q9DER7, Q9TV36, A0A1D5NSM8, A1A5Y0, A2AVA0, A2RUV0, A2VCU8, A5A8Y8, A6QR11, B3EWY9, B5DFC9, G3I6Z6, O88322, P07996, P0C6B8, P10493, P12105, P14585, P21783

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — NBL.

Clinical variants and AI predictions

ClinVar

4111 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	44
Likely pathogenic	84
Uncertain significance	1664
Likely benign	1445
Benign	244

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1333458	NM_001999.4(FBN2):c.4296C>A (p.Tyr1432Ter)	Pathogenic
1420674	NM_001999.4(FBN2):c.4592_4594+3del	Pathogenic
1454127	NM_001999.4(FBN2):c.3472+2T>C	Pathogenic
152430	GRCh38/hg38 5q23.3(chr5:128434801-128486349)x1	Pathogenic
18402	NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)	Pathogenic
213262	NM_001999.4(FBN2):c.525T>A (p.Cys175Ter)	Pathogenic
213320	NM_001999.4(FBN2):c.3724+2T>C	Pathogenic
2136329	NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)	Pathogenic
2176896	NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)	Pathogenic
253630	GRCh37/hg19 5q23.3(chr5:127744084-127866529)x1	Pathogenic
2583090	NM_001999.4(FBN2):c.3230G>A (p.Cys1077Tyr)	Pathogenic
2734777	NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)	Pathogenic
2760917	NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)	Pathogenic
2835587	NM_001999.4(FBN2):c.3598+6T>G	Pathogenic
2851145	NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)	Pathogenic
3246295	NC_000005.9:g.(?127653831)(127654703_?)del	Pathogenic
3337308	NM_001999.4(FBN2):c.5801-633_6166+1908del	Pathogenic
411834	NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)	Pathogenic
4281621	NM_001999.4(FBN2):c.5009T>G (p.Phe1670Cys)	Pathogenic
449443	NM_001999.4(FBN2):c.4222+5G>A	Pathogenic
458763	NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg)	Pathogenic
4814225	NM_001999.4(FBN2):c.4346-1G>A	Pathogenic
520	NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys)	Pathogenic
522	NM_001999.4(FBN2):c.4346-2A>T	Pathogenic
523	NM_001999.4(FBN2):c.3725-15A>G	Pathogenic
524	NM_001999.4(FBN2):c.3974-26T>G	Pathogenic
525	NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)	Pathogenic
526	NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)	Pathogenic
527	NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)	Pathogenic
547356	NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)	Pathogenic

SpliceAI

10355 predictions. Top by Δscore:

Variant	Effect	Δscore
5:128259826:CAAC:C	acceptor_gain	1.0000
5:128259830:C:CC	acceptor_gain	1.0000
5:128259830:CT:C	acceptor_loss	1.0000
5:128261727:TATAC:T	donor_loss	1.0000
5:128261728:ATAC:A	donor_loss	1.0000
5:128261729:TACT:T	donor_loss	1.0000
5:128261730:AC:A	donor_loss	1.0000
5:128261732:T:TA	donor_loss	1.0000
5:128261733:CA:C	donor_loss	1.0000
5:128261734:A:AC	donor_gain	1.0000
5:128261734:ACAG:A	donor_gain	1.0000
5:128261735:C:CA	donor_gain	1.0000
5:128261735:CA:C	donor_gain	1.0000
5:128261735:CAG:C	donor_gain	1.0000
5:128261735:CAGC:C	donor_gain	1.0000
5:128261735:CAGCA:C	donor_gain	1.0000
5:128261763:T:TA	donor_gain	1.0000
5:128261903:AGTGG:A	acceptor_gain	1.0000
5:128261904:GTGG:G	acceptor_gain	1.0000
5:128261905:TGG:T	acceptor_gain	1.0000
5:128261906:GG:G	acceptor_gain	1.0000
5:128261908:C:CC	acceptor_gain	1.0000
5:128261912:T:C	acceptor_gain	1.0000
5:128261912:T:TC	acceptor_gain	1.0000
5:128263423:AC:A	donor_gain	1.0000
5:128263424:CC:C	donor_gain	1.0000
5:128271995:TCA:T	donor_loss	1.0000
5:128271997:A:AC	donor_gain	1.0000
5:128271998:C:CC	donor_gain	1.0000
5:128271998:CCGA:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000002122 (5:128396993 T>C), RS1000009705 (5:128288730 A>C,T), RS1000037622 (5:128354222 A>G), RS1000039159 (5:128535446 T>C), RS1000045244 (5:128478155 T>C), RS1000049515 (5:128294084 G>A), RS1000054378 (5:128461389 T>G), RS1000058654 (5:128343755 C>T), RS1000080380 (5:128294322 G>A), RS1000088916 (5:128260569 G>C), RS1000090111 (5:128347978 G>C,T), RS1000107571 (5:128355574 G>A), RS1000107946 (5:128461113 G>A), RS1000112136 (5:128500938 G>A), RS1000114701 (5:128444318 C>T)

Disease associations

OMIM: gene MIM:612570 | disease phenotypes: MIM:121050, MIM:607086, MIM:616118, MIM:130000, MIM:208150, MIM:609192, MIM:123100, MIM:154700, MIM:607087, MIM:614429

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital contractural arachnodactyly	Definitive	Autosomal dominant
macular degeneration, early-onset	Limited	Autosomal dominant
carpal tunnel syndrome	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
congenital contractural arachnodactyly	Definitive	AD

Mondo (19): congenital contractural arachnodactyly (MONDO:0007363), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), macular degeneration, early-onset (MONDO:0014501), Ehlers-Danlos syndrome (MONDO:0020066), connective tissue disorder (MONDO:0003900), prostate cancer (MONDO:0008315), brain ischemia (MONDO:0005299), fetal akinesia deformation sequence 1 (MONDO:0100101), Loeys-Dietz syndrome (MONDO:0018954), brain aneurysm (MONDO:0005291), dilated cardiomyopathy (MONDO:0005021), craniosynostosis (MONDO:0015469), Marfan syndrome (MONDO:0007947), Ehlers-Danlos syndrome, vascular type (MONDO:0017314), congenital heart disease (MONDO:0005453)

Orphanet (12): Congenital contractural arachnodactyly (Orphanet:115), Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387), Ehlers-Danlos syndrome (Orphanet:98249), Familial prostate cancer (Orphanet:1331), Fetal akinesia deformation sequence (Orphanet:994), Loeys-Dietz syndrome (Orphanet:60030), Dilated cardiomyopathy (Orphanet:217604), Craniosynostosis (Orphanet:1531), Marfan syndrome type 1 (Orphanet:284963), Marfan syndrome (Orphanet:558), Vascular Ehlers-Danlos syndrome (Orphanet:286), NON RARE IN EUROPE: Ventricular septal defect (Orphanet:1480)

HPO phenotypes

67 total (30 of 67 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000218	High palate
HP:0000248	Brachycephaly
HP:0000268	Dolichocephaly
HP:0000347	Micrognathia
HP:0000470	Short neck
HP:0000545	Myopia
HP:0000608	Macular degeneration
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0000938	Osteopenia
HP:0001083	Ectopia lentis
HP:0001166	Arachnodactyly
HP:0001181	Adducted thumb
HP:0001239	Wrist flexion contracture
HP:0001270	Motor delay
HP:0001371	Flexion contracture
HP:0001377	Limited elbow extension
HP:0001387	Joint stiffness
HP:0001519	Disproportionate tall stature
HP:0001533	Slender build
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001634	Mitral valve prolapse
HP:0001643	Patent ductus arteriosus
HP:0001647	Bicuspid aortic valve
HP:0001653	Mitral regurgitation
HP:0001762	Talipes equinovarus
HP:0001836	Camptodactyly of toe
HP:0001840	Metatarsus adductus

GWAS associations

38 associations (top):

Study	Trait	p-value
GCST000426_13	Obesity (extreme)	4.000000e-06
GCST001263_16	Height	4.000000e-06
GCST001531_11	Temperament	9.000000e-06
GCST002579_18	Heschl’s gyrus morphology	5.000000e-06
GCST002715_5	Breastfeeding duration	4.000000e-06
GCST003475_8	Beard thickness	1.000000e-06
GCST003487_9	Response to fenofibrate (total cholesterol levels)	5.000000e-06
GCST003542_108	Night sleep phenotypes	3.000000e-06
GCST003784_7	Multiple system atrophy	6.000000e-06
GCST004279_17	Systolic blood pressure	8.000000e-12
GCST005580_110	Intraocular pressure	3.000000e-08
GCST006061_150	Atrial fibrillation	2.000000e-07
GCST006979_118	Heel bone mineral density	1.000000e-27
GCST006979_119	Heel bone mineral density	6.000000e-10
GCST006979_120	Heel bone mineral density	2.000000e-19
GCST007094_196	Diastolic blood pressure	2.000000e-07
GCST007096_40	Pulse pressure	1.000000e-06
GCST007099_205	Systolic blood pressure	2.000000e-10
GCST007267_207	Systolic blood pressure	9.000000e-22
GCST007269_238	Pulse pressure	9.000000e-15
GCST007927_53	Medication use (beta blocking agents)	2.000000e-11
GCST007928_97	Medication use (diuretics)	7.000000e-15
GCST007929_31	Medication use (calcium channel blockers)	1.000000e-11
GCST008839_383	Height	3.000000e-10
GCST008839_584	Height	5.000000e-13
GCST009734_7	Severe aplastic anemia	5.000000e-06
GCST010002_37	Refractive error	9.000000e-11
GCST010701_65	Cortical surface area (MOSTest)	1.000000e-09
GCST010702_168	Subcortical volume (MOSTest)	1.000000e-17
GCST010703_157	Brain morphology (MOSTest)	3.000000e-09

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0004825	temperament and character inventory
EFO:0006864	breastfeeding duration
EFO:0007806	total cholesterol change measurement
EFO:0006335	systolic blood pressure
EFO:0004695	intraocular pressure measurement
EFO:0009270	heel bone mineral density
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0009929	Beta blocking agent use measurement
EFO:0009928	Diuretic use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0006927	severe aplastic anemia
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0005213	central corneal thickness

MeSH disease descriptors (15)

Descriptor	Name	Tree numbers
D002545	Brain Ischemia	C10.228.140.300.150; C14.907.253.092
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002349	Carpal Tunnel Syndrome	C10.668.829.500.500.200; C10.668.829.550.200; C26.844.150.206
D003240	Connective Tissue Diseases	C17.300
D003398	Craniosynostoses	C05.116.099.370.894.232; C05.660.207.240; C05.660.906.364; C16.131.621.207.240; C16.131.621.906.364
D004535	Ehlers-Danlos Syndrome	C14.907.454.240; C15.378.463.515.240; C16.131.831.428; C16.320.850.260; C17.300.200.310; C17.800.804.428; C17.800.827.260
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D006345	Heart Septal Defects, Ventricular	C14.240.400.560.540; C14.280.400.560.540; C16.131.240.400.560.540
D002532	Intracranial Aneurysm	C10.228.140.300.510.600; C14.907.055.635; C14.907.253.560.300
D055947	Loeys-Dietz Syndrome	C05.660.207.532; C14.907.055.239.587; C14.907.109.139.587; C16.131.077.537; C16.320.510
D008382	Marfan Syndrome	C05.116.099.674; C14.240.400.725; C14.280.400.725; C16.131.077.550; C16.131.240.400.720; C16.320.540; C17.300.500
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
D013285	Strabismus	C10.292.562.887; C11.590.810
C564627	Aortic Aneurysm, Familial Thoracic 2 (supp.)
C536211	Congenital contractural arachnodactyly (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12656510	FBN2		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	6
sodium arsenite	affects expression, decreases expression, affects cotreatment, increases abundance, increases expression	5
Tretinoin	decreases expression, decreases reaction	4
bisphenol A	decreases expression, increases methylation, affects cotreatment	3
Aflatoxin B1	increases expression, affects expression	3
methylmercuric chloride	decreases expression, increases expression	2
arsenite	decreases reaction, decreases expression, affects binding	2
cobaltous chloride	decreases expression, decreases secretion	2
entinostat	decreases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
Benzo(a)pyrene	increases expression, decreases methylation	2
Dexamethasone	increases expression, affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
Genistein	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	increases sumoylation	1
2,4,6-tribromophenol	increases expression	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
propionaldehyde	increases expression	1
decabromobiphenyl ether	increases expression	1
kojic acid	increases expression	1
trichostatin A	increases expression	1
o,p’-DDT	increases expression	1
sulforaphane	decreases expression	1
tetrabromobisphenol A	increases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 1 finite cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_HQ15	GM21995	Finite cell line	Female
CVCL_WN17	HELPi001-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00277563	PHASE4	COMPLETED	Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome
NCT00678314	PHASE4	COMPLETED	Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters
NCT00904202	PHASE4	COMPLETED	A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions
NCT01310218	PHASE4	COMPLETED	Length of Post Operative Dressing After Carpal Tunnel Release
NCT01588158	PHASE4	TERMINATED	Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery
NCT01751347	PHASE4	COMPLETED	Bupivacaine Versus Lidocaine Local Anesthesia
NCT02038452	PHASE4	COMPLETED	Injection Versus Splinting in Carpal Tunnel Syndrome
NCT02140632	PHASE4	COMPLETED	Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome
NCT02652390	PHASE4	COMPLETED	Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome
NCT03196817	PHASE4	UNKNOWN	Non-surgical Treatment of Carpal Tunnel Syndrome: Night Splint Versus Local Corticosteroid Infiltration
NCT03432858	PHASE4	COMPLETED	Preoperative Antibiotics for Carpal Tunnel Release Surgery
NCT03649763	PHASE4	COMPLETED	Onset and Duration of Forearm Nerve Blockade
NCT03792945	PHASE4	COMPLETED	Comparison of the Efficacy of Corticosteroid Injection and ESWT in Patients With CTS
NCT03802448	PHASE4	COMPLETED	Myofascial Release on Electrophysiological Measures of Pregnant Women With CTS
NCT03867539	PHASE4	RECRUITING	Exparel and Education to Avoid Opioids After Carpal Tunnel Release
NCT04017390	PHASE4	WITHDRAWN	The Effect of Theraworx Foam in Carpal Tunnel Syndrome
NCT04025203	PHASE4	COMPLETED	Pain Reduction and Changes in Upper Limb Function Produced by Different Treatments in Carpal Tunnel Syndrome
NCT04119739	PHASE4	COMPLETED	Pain Reduction Produced by Different Treatments in Carpal Tunnel Syndrome
NCT04245371	PHASE4	COMPLETED	Lidocaine Patch 1.8% for Moderate to Severe Pain From Carpal Tunnel Syndrome
NCT04285281	PHASE4	COMPLETED	Oral Gabapentin and Median Nerve Mobilization in the Treatment of Carpal Tunnel Syndrome
NCT04328805	PHASE4	COMPLETED	Ibuprofen and Neural Mobilization Treatment in Carpal Tunnel Syndrome.
NCT04460521	PHASE4	RECRUITING	The ACTS Trial: N-acetylcysteine (NAC) and Night-splinting as a Non-operative Treatment for Carpal Tunnel Syndrome
NCT04515966	PHASE4	UNKNOWN	A Comparison of Ultrasound-guided Steroid Injection With Wrist Splint in Carpal Tunnel Syndrome
NCT04767724	PHASE4	COMPLETED	Extracorporeal Shock Wave Versus Local Corticosteroid Injection for Carpal Tunnel Syndrome
NCT05306548	PHASE4	ACTIVE_NOT_RECRUITING	A Norwegian Trial Comparing Treatment Strategies for Carpal Tunnel Syndrome
NCT05475808	PHASE4	ACTIVE_NOT_RECRUITING	Comparison of the Efficacy of Different Treatment Methods in Patients With Carpal Tunnel Syndrome
NCT05496764	PHASE4	UNKNOWN	Local Injection of Steroid VS.Glucose 5% in Carpal Tunnel Syndrome
NCT06209957	PHASE4	COMPLETED	Study of Single Platelet-Rich Plasma Local Injection Vs. Single Corticosteroid Local Injection in Carpal Tunnel Syndrome
NCT06249503	PHASE4	COMPLETED	Ultrasound Guided Activated and Non Activated Platelet Rich Plasma Injection Versus Hydro Dissection by Steroids.
NCT06282640	PHASE4	COMPLETED	Comparıson Of Electromyography Results Before And After Vıtamın D Treatment In Patıents Wıth Carpal Tunnel Syndrome
NCT06349265	PHASE4	COMPLETED	Ultrasound-Guided 5% Dextrose Injection for Carpal Tunnel Syndrome
NCT06349824	PHASE4	COMPLETED	Dextrose, Steroid, PRP: Choosing the Right Injection for CRS Relief; a RCT
NCT06778759	PHASE4	COMPLETED	Ibuprofen Arginine and Neural Mobilization Versus Ibuprofen Arginine in the Treatment of Carpal Tunnel Syndrome
NCT06778798	PHASE4	COMPLETED	Gabapentin and Neural Mobilization Pain Reduction Effect Compared to Only Gabapentine
NCT06781489	PHASE4	COMPLETED	Pain Reduction Caused by the Combined Treatment of Physiotherapy, Oral Gabapentin and Oral Ibuprofen Arginine.
NCT07105540	PHASE4	COMPLETED	Comparison of Injection Techniques in Carpal Tunnel Syndrome
NCT07283874	PHASE4	NOT_YET_RECRUITING	Does it Matter the Volume of Injectate on the Outcome of Ultrasound-guided Perineural Injection for Carpal Tunnel Syndrome
NCT04890431	PHASE4	UNKNOWN	Impact of Oxygen Therapy on Fatigue in Patients With Hypermobile-type Ehlers-Danlos Syndrome
NCT05603741	PHASE4	ACTIVE_NOT_RECRUITING	Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers
NCT01042158	PHASE4	COMPLETED	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis