SYNE2

Summary

SYNE2 (spectrin repeat containing nuclear envelope protein 2, HGNC:17084) is a protein-coding gene on chromosome 14q23.2, encoding Nesprin-2 (Q8WXH0). Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization.

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 23224 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant Emery-Dreifuss muscular dystrophy (Supportive, GenCC) — +2 more curated relationships
• GWAS associations: 40
• Clinical variants (ClinVar): 4,830 total — 2 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 55
• MANE Select transcript: NM_182914

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17084
Approved symbol	SYNE2
Name	spectrin repeat containing nuclear envelope protein 2
Location	14q23.2
Locus type	gene with protein product
Status	Approved
Aliases	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2
Ensembl gene	ENSG00000054654
Ensembl biotype	protein_coding
OMIM	608442
Entrez	23224

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 13 protein_coding, 10 retained_intron, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000341472, ENST00000344113, ENST00000358025, ENST00000394768, ENST00000441438, ENST00000458046, ENST00000553289, ENST00000553308, ENST00000553455, ENST00000553801, ENST00000554584, ENST00000554805, ENST00000554928, ENST00000554997, ENST00000555002, ENST00000555022, ENST00000555241, ENST00000555323, ENST00000555612, ENST00000556342, ENST00000556725, ENST00000557005, ENST00000557024, ENST00000557060, ENST00000557084, ENST00000557307, ENST00000673797, ENST00000673869, ENST00000674003, ENST00000674144

RefSeq mRNA: 4 — MANE Select: NM_182914 NM_015180, NM_182910, NM_182913, NM_182914

CCDS: CCDS41963, CCDS45124, CCDS9761

Canonical transcript exons

ENST00000555002 — 116 exons

Exon	Start	End
ENSE00000867632	64215286	64215354
ENSE00001096692	64224999	64225045
ENSE00001519510	64225319	64226433
ENSE00001594289	64162072	64162276
ENSE00001598402	64158625	64158795
ENSE00001601416	64165285	64165410
ENSE00001603647	64107491	64107607
ENSE00001607109	64163402	64163581
ENSE00001610442	64174944	64175138
ENSE00001612097	64190071	64190237
ENSE00001619054	64128452	64128553
ENSE00001619167	64101932	64102042
ENSE00001623473	64137787	64137983
ENSE00001631920	64143772	64143948
ENSE00001633394	64130048	64130248
ENSE00001640777	64186424	64186579
ENSE00001652130	64141942	64142088
ENSE00001652314	64177358	64177483
ENSE00001659947	64141341	64141523
ENSE00001665015	64129782	64129901
ENSE00001665252	64125079	64125210
ENSE00001670571	64132265	64132438
ENSE00001677997	64113341	64113571
ENSE00001696524	64170228	64170462
ENSE00001700703	64139941	64140073
ENSE00001708092	64168877	64168971
ENSE00001711173	64120927	64121061
ENSE00001732589	64134069	64134200
ENSE00001744976	64146068	64146223
ENSE00001749033	64119427	64119609
ENSE00001764955	64152564	64152716
ENSE00001767513	64122286	64122427
ENSE00001772049	64188550	64188708
ENSE00001776856	64126327	64126479
ENSE00001787995	64126598	64126807
ENSE00001795486	64122012	64122133
ENSE00003463868	64021857	64022028
ENSE00003469297	64027484	64027793
ENSE00003471963	64029895	64030059
ENSE00003473768	64212811	64213005
ENSE00003475958	64167233	64167387
ENSE00003477241	64224461	64224547
ENSE00003480782	64097949	64098146
ENSE00003488550	64080456	64080638
ENSE00003495443	64007043	64007222
ENSE00003496751	64208758	64208945
ENSE00003504065	64090866	64091048
ENSE00003505134	64218398	64218512
ENSE00003521999	64025130	64025421
ENSE00003523604	64024912	64025031
ENSE00003523808	64078466	64078606
ENSE00003538264	64009966	64010116
ENSE00003548243	64223189	64223380
ENSE00003558407	64167495	64167639
ENSE00003560700	64221576	64221704
ENSE00003580204	64214194	64214470
ENSE00003582628	64098747	64098821
ENSE00003582707	64021315	64021515
ENSE00003583954	64087671	64087856
ENSE00003605849	64220437	64220637
ENSE00003608236	64026579	64026730
ENSE00003608984	64209428	64209578
ENSE00003616991	64089574	64089696
ENSE00003618051	64017595	64017756
ENSE00003621284	64019992	64020093
ENSE00003640381	64209942	64210124
ENSE00003651003	64219208	64219410
ENSE00003651855	64216248	64216387
ENSE00003658277	64211961	64212098
ENSE00003661936	64016473	64016631
ENSE00003666926	64093349	64093480
ENSE00003669144	64031016	64031357
ENSE00003682802	64081443	64081580
ENSE00003686272	64202801	64202963
ENSE00003694652	64159312	64159442
ENSE00003713021	63980986	63981173
ENSE00003715418	63998219	63998328
ENSE00003715538	64073968	64074136
ENSE00003717768	63941885	63941962
ENSE00003718231	63983737	63983886
ENSE00003718266	64024257	64024459
ENSE00003719042	63954719	63954915
ENSE00003722527	64070645	64070910
ENSE00003723546	63993835	63993969
ENSE00003726581	64000562	64000719
ENSE00003727704	63990411	63990569
ENSE00003727913	63940614	63940675
ENSE00003729163	63963899	63964000
ENSE00003730474	63995044	63995202
ENSE00003731273	63996947	63997158
ENSE00003731521	63949825	63950006
ENSE00003731772	64001934	64002081
ENSE00003732437	63997301	63997391
ENSE00003732492	63978852	63979014
ENSE00003734185	64065432	64065650
ENSE00003734903	64062751	64062895
ENSE00003737812	63909098	63909227
ENSE00003738446	64022751	64022863
ENSE00003739200	64075945	64076100
ENSE00003739475	63986456	63986617
ENSE00003739980	64049611	64049876
ENSE00003741067	63982630	63982794
ENSE00003741877	63942051	63942143
ENSE00003742298	64051557	64053657
ENSE00003744604	63980654	63980732
ENSE00003745400	63967709	63967846
ENSE00003746234	63941695	63941790
ENSE00003747979	63977905	63978017
ENSE00003751386	63990942	63991115
ENSE00003752290	63976563	63976727
ENSE00003752649	63961525	63961625
ENSE00003752734	64002720	64003330
ENSE00003753415	63998914	63999040
ENSE00003753551	64048000	64048155
ENSE00003753807	64055944	64056266
ENSE00003902714	63853004	63853143

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 99.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.5768 / max 471.4497, expressed in 1513 samples.

FANTOM5 promoters (25 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140050	23.6358	1455
140052	2.4755	506
140089	0.8197	110
140049	0.6378	73
140078	0.5772	112
140087	0.3760	144
140048	0.1995	32
140047	0.1345	25
207256	0.1236	36
140070	0.1172	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	99.01	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.52	gold quality
ganglionic eminence	UBERON:0004023	98.43	gold quality
metanephros cortex	UBERON:0010533	98.38	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.26	gold quality
triceps brachii	UBERON:0001509	98.24	gold quality
renal medulla	UBERON:0000362	98.10	gold quality
biceps brachii	UBERON:0001507	98.04	gold quality
diaphragm	UBERON:0001103	97.92	gold quality
colonic epithelium	UBERON:0000397	97.73	gold quality
sural nerve	UBERON:0015488	97.73	gold quality
left ovary	UBERON:0002119	97.72	gold quality
body of tongue	UBERON:0011876	97.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.25	gold quality
right ovary	UBERON:0002118	96.94	gold quality
muscle of leg	UBERON:0001383	96.90	gold quality
gastrocnemius	UBERON:0001388	96.87	gold quality
right lobe of thyroid gland	UBERON:0001119	96.84	gold quality
skin of abdomen	UBERON:0001416	96.77	gold quality
left lobe of thyroid gland	UBERON:0001120	96.73	gold quality
gluteal muscle	UBERON:0002000	96.59	gold quality
thyroid gland	UBERON:0002046	96.54	gold quality
body of pancreas	UBERON:0001150	96.49	gold quality
muscle organ	UBERON:0001630	96.38	gold quality
bronchial epithelial cell	CL:0002328	96.31	gold quality
right lung	UBERON:0002167	96.31	gold quality
right uterine tube	UBERON:0001302	96.22	gold quality
skin of leg	UBERON:0001511	96.04	gold quality
ovary	UBERON:0000992	96.03	gold quality
cortical plate	UBERON:0005343	95.89	gold quality

Single-cell (SCXA)

Detected in 28 experiment(s), a significant marker in 20.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	8265.11
E-MTAB-6678	yes	1061.62
E-ENAD-27	yes	965.73
E-GEOD-81608	yes	759.30
E-MTAB-7407	yes	596.22
E-GEOD-149689	yes	502.47
E-HCAD-5	yes	51.86
E-MTAB-9221	yes	48.61
E-CURD-122	yes	47.49
E-CURD-88	yes	39.19
E-CURD-112	yes	38.86
E-HCAD-31	yes	33.48
E-GEOD-134144	yes	29.22
E-GEOD-137537	yes	24.14
E-HCAD-35	yes	22.58

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

53 targeting SYNE2, 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-4682	100.00	68.89	1258
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-1276	99.36	68.18	1642

Literature-anchored findings (GeneRIF, showing 34)

• Nesprin-2 binds lamin and emerin at the nuclear envelope in skeletal muscle. (PMID:15671068)
• Nesprin-2 has a scaffolding function at the nuclear membrane (PMID:15843432)
• The Nesprin-2 the conserved C-terminal amino acids PPPX is essential for the interaction with a C-terminal region in Sun1. (PMID:16079285)
• The characterisation of the residues both in emerin and in nesprin-1alpha and -2beta which are involved in their interaction is reported. (PMID:17462627)
• Screening for DNA variations in the genes encoding nesprin-1 (SYNE1) and nesprin-2 (SYNE2) in 190 probands with Emery Dreifuss muscular dystrophy identified four heterozygous missense mutations. (PMID:17761684)
• propose nesprin-2 giant as a structural reinforcer at the nuclear envelope in LMNA S143F progeria cells (PMID:17881656)
• Nesprin-2 is an important scaffold protein implicated in the maintenance of nuclear envelope architecture. (PMID:18477613)
• association with human nesprin-3 appeared to be stronger for torsinADeltaE than for torsinA. TorsinA also associated with the KASH domains of nesprin-1 and -2 (PMID:18827015)
• Novel nuclear nesprin-2 variants tether active extracellular signal-regulated MAPK1 and MAPK2 at promyelocytic leukemia protein nuclear bodies and act to regulate smooth muscle cell proliferation. (PMID:19861416)
• Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development (PMID:20108321)
• Nesprin-2 interacts with {alpha}-catenin and regulates Wnt signaling at the nuclear envelope. (PMID:20801886)
• novel isoform, nesprin-2-epsilon, was found to be the major mRNA and protein product of the nesprin-2 gene. (PMID:21820406)
• Study presents crystal structures of the human SUN2-KASH1/2 complex, i.e. SUN2 complexed with the C-terminal 29 residues of human Nesprin-1 or -2 (the core of the LINC complex). (PMID:22632968)
• Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds. (PMID:22768332)
• ectopic expression of BRAP2 inhibits nuclear localization of HMG20A and NuMA1, and prevents nuclear envelope accumulation of SYNE2. (PMID:23707952)
• Each mutation in LMNA has a distinct impact on the Nersprin-2 interaction that substantially explains how distinct mutations in widely expressed genes lead to the formation of phenotypically different diseases. (PMID:23977161)
• High Nesprin-2 expression is associated with colorectal cancer. (PMID:24080406)
• The significance of these shorter isoforms of nesprin, were evaluated. (PMID:24718612)
• nesprin-1 and nesprin-2 both regulate nuclear and cytoplasmic architecture. (PMID:24931616)
• nesprin-dependent recruitment of kinesin-1 to the nuclear envelope through the interaction of a conserved LEWD motif with kinesin light chain might be a general mechanism for cell-type-specific nuclear positioning during development. (PMID:25516977)
• We show that AMPH-1/BIN1 binds to nesprin and actin, as well as to the microtubule-binding protein CLIP170 in both species. We propose that BIN1 has a direct and evolutionarily conserved role in nuclear positioning, altered in myopathies. (PMID:26506308)
• these data identify N-terminal nesprin-2 variants as novel regulators of beta-catenin signaling. (PMID:27321956)
• variants of EGFR and SYNE2 play an important role in p21 regulation and are associated with the clinical outcome of HBV-related hepatocellular carcinoma in a TP53-indenpdent manner (PMID:27502069)
• The authors identified the nuclear envelope protein nesprin-2 as a binding partner for fascin in a range of cell types in vitro and in vivo. Nesprin-2 interacts with fascin through a direct, F-actin-independent interaction, and this binding is distinct and separable from a role for fascin within filopodia at the cell periphery. (PMID:27554857)
• Study shows that modulation of matrix pore size or of lamin A expression known to modulate nuclear stiffness directly impinges on levels of MT1-MMP-mediated pericellular collagenolysis by cancer cells. This response requires an intact connection between the nucleus and the centrosome via the linker of nucleoskeleton and cytoskeleton (LINC) complex protein nesprin-2 and dynein adaptor Lis1. (PMID:29934494)
• CRISPR/Cas9-mediated knockout of Syne-2 in cell culture led to an overexpression and mislocalization of Pcnt and to ciliogenesis defects. This suggests that the Pcnt-Syne-2 complex is important for ciliogenesis and outer segment formation during retinal development and plays a role in nuclear migration. (PMID:30054381)
• Results indicate that sperm associated antigen 4 (SPAG4L/SPAG4Lbeta) transcript isoform interacts with spectrin repeat containing nuclear envelope protein 2 (Nesprin2) in the meiotic process. (PMID:31144711)
• Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle. (PMID:31578382)
• A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy. (PMID:32184094)
• Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins. (PMID:33472039)
• The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi dispersal. (PMID:33686165)
• Silencing of Nesprin-2 inhibits the differentiation of myofibroblasts from fibroblasts induced by mechanical stretch. (PMID:34558192)
• Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders. (PMID:36930595)
• Mena regulates nesprin-2 to control actin-nuclear lamina associations, trans-nuclear membrane signalling and gene expression. (PMID:36959177)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	syne2b	ENSDARG00000095514
mus_musculus	Syne2	ENSMUSG00000063450
rattus_norvegicus	Syne2	ENSRNOG00000005323

Paralogs (36): SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Nesprin-2 — Q8WXH0 (reviewed: Q8WXH0)

Alternative names: KASH domain-containing protein 2, Nuclear envelope spectrin repeat protein 2, Nucleus and actin connecting element protein, Synaptic nuclear envelope protein 2

All UniProt accessions (13): A0A0C4DGK3, A0A1W2PRN9, A0A1W2PS37, A0A669KB22, A0A669KB61, Q8WXH0, A0A669KBG2, A0A669KBH2, G3V2Q0, G3V3D4, G3V4T3, G3V5N1, G3V5X4

UniProt curated annotations — full annotation on UniProt →

Function. Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. May be involved in nucleus-centrosome attachment. During interkinetic nuclear migration (INM) at G2 phase and nuclear migration in neural progenitors its LINC complex association with SUN1/2 and probable association with cytoplasmic dynein-dynactin motor complexes functions to pull the nucleus toward the centrosome; SYNE1 and SYNE2 may act redundantly. During INM at G1 phase mediates respective LINC complex association with kinesin to push the nucleus away from the centrosome. Involved in nuclear migration in retinal photoreceptor progenitors. Required for centrosome migration to the apical cell surface during early ciliogenesis. Facilitates the relaxation of mechanical stress imposed by compressive actin fibers at the rupture site through its nteraction with SYN2.

Subunit / interactions. Core component of LINC complexes which are composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, some LINC complex constituents are tissue- or cell type-specific. At least SUN1/2-containing core LINC complexes are proposed to be hexameric composed of three protomers of each KASH and SUN domain-containing protein. The SUN2:SYNE2/KASH2 complex is a heterohexamer; the homotrimeric cloverleave-like conformation of the SUN domain is a prerequisite for LINC complex formation in which three separate SYNE2/KASH2 peptides bind at the interface of adjacent SUN domains. Interacts with EMD, LMNA, MKS3 and F-actin via its N-terminal domain. Interacts with DCTN1 and DYNC1I1/2; suggesting the association with the dynein-dynactin motor complex. Associates with kinesin motor complexes. Interacts with TMEM67. Interacts (via KASH domain) with TMEM258. Interacts with BROX; this interaction promotes SYN2 ubiquitination and facilitates the relaxation of mechanical stress imposed by compressive actin fibers at the rupture site.

Subcellular location. Nucleus outer membrane. Sarcoplasmic reticulum membrane. Cell membrane. Cytoplasm. Cytoskeleton. Mitochondrion. Nucleus. Nucleoplasm. Myofibril. Sarcomere. Z line Cell junction. Focal adhesion.

Tissue specificity. Widely expressed, with higher level in kidney, adult and fetal liver, stomach and placenta. Weakly expressed in skeletal muscle and brain. Isoform 5 is highly expressed in pancreas, skeletal muscle and heart.

Post-translational modifications. The disulfid bond with SUN2 is required for stability of the SUN2:SYNE2/KASH2 LINC complex under tensile forces though not required for the interaction. Ubiquitinated, targeting it for degradation.

Disease relevance. Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5) [MIM:612999] A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The KASH domain mediates the nuclear envelope targeting.

Miscellaneous. Produced by exon skipping that results in a frameshift. Lacks the spectrin repeats and KASH domain. Detected only in ovary and early embryonic cells.

Similarity. Belongs to the nesprin family.

Isoforms (13)

UniProt ID	Names	Canonical?
Q8WXH0-1	1, Nesprin-2 Giant, NUANCE	yes
Q8WXH0-2	2
Q8WXH0-3	3, epsilon2, JAM19
Q8WXH0-4	4, beta1
Q8WXH0-5	5, alpha1
Q8WXH0-6	6, alpha2
Q8WXH0-7	7, Gamma
Q8WXH0-8	8, p32CH
Q8WXH0-9	9, NUANCE-N-33
Q8WXH0-10	10, beta2
Q8WXH0-11	11, FLJ56122
Q8WXH0-12	12, FLJ55476
Q8WXH0-13	13, epsilon1, JAM28

RefSeq proteins (4): NP_055995, NP_878914, NP_878917, NP_878918* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001589	Actinin_actin-bd_CS	Conserved_site
IPR001715	CH_dom	Domain
IPR002017	Spectrin_repeat	Repeat
IPR012315	KASH	Domain
IPR018159	Spectrin/alpha-actinin	Repeat
IPR036872	CH_dom_sf	Homologous_superfamily
IPR056887	SYNE1/2_dom	Domain
IPR057057	Spectrin_SYNE1	Domain

Pfam: PF00307, PF00435, PF10541, PF25034, PF25035

UniProt features (184 total): repeat 56, sequence variant 35, splice variant 18, sequence conflict 17, compositionally biased region 14, modified residue 12, region of interest 10, helix 7, mutagenesis site 3, domain 3, topological domain 2, strand 2, chain 1, disulfide bond 1, turn 1, transmembrane region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
4DXS	X-RAY DIFFRACTION	2.71
6XF1	X-RAY DIFFRACTION	2.8
4FI9	X-RAY DIFFRACTION	3.05

Predicted structure (AlphaFold)

No AlphaFold model available for Q8WXH0 — 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.

Post-translational modifications (12): 841, 955, 2781, 4108, 5785, 6361, 6384, 6411, 6428, 6429, 6430, 6459

Disulfide bonds (1): 6862

Mutagenesis-validated functional residues (3):

Position	Phenotype
6876	disrupts interaction with sun2.
6878	disrupts interaction with sun2.
6883	disrupts interaction with sun2.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1221632	Meiotic synapsis
R-HSA-1474165	Reproduction
R-HSA-1500620	Meiosis
R-HSA-1640170	Cell Cycle

MSigDB gene sets: 0 (showing top):

GO Biological Process (6): nuclear migration (GO:0007097), nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration (GO:0021817), positive regulation of cell migration (GO:0030335), nuclear migration along microfilament (GO:0031022), centrosome localization (GO:0051642), regulation of cilium assembly (GO:1902017)

GO Molecular Function (3): actin binding (GO:0003779), cytoskeleton-nuclear membrane anchor activity (GO:0140444), protein binding (GO:0005515)

GO Cellular Component (26): fibrillar center (GO:0001650), nucleus (GO:0005634), nuclear envelope (GO:0005635), nuclear outer membrane (GO:0005640), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), focal adhesion (GO:0005925), cilium (GO:0005929), sarcoplasmic reticulum (GO:0016529), Z disc (GO:0030018), lamellipodium membrane (GO:0031258), filopodium membrane (GO:0031527), nuclear membrane (GO:0031965), nuclear lumen (GO:0031981), sarcoplasmic reticulum membrane (GO:0033017), meiotic nuclear membrane microtubule tethering complex (GO:0034993), intermediate filament cytoskeleton (GO:0045111), extracellular exosome (GO:0070062), nucleolus (GO:0005730), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020), myofibril (GO:0030016), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Meiosis	1
Reproduction	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
nucleus	3
intracellular membrane-bounded organelle	2
nuclear lumen	2
cell projection membrane	2
intracellular transport	1
nucleus localization	1
establishment of organelle localization	1
modulation of microtubule cytoskeleton involved in cerebral cortex radial glia guided migration	1
nuclear migration along microtubule	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
nuclear migration	1
actin filament-based movement	1
actin filament-based transport	1
microtubule organizing center localization	1
cilium assembly	1
regulation of plasma membrane bounded cell projection assembly	1
regulation of organelle assembly	1
cytoskeletal protein binding	1
protein-membrane adaptor activity	1
binding	1
nucleolus	1
endomembrane system	1
organelle envelope	1
nuclear membrane	1
organelle outer membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
intracellular anatomical structure	1
cytoplasm	1
cell-substrate junction	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
endoplasmic reticulum	1
sarcoplasm	1
I band	1
lamellipodium	1
leading edge membrane	1

Protein interactions and networks

STRING

1912 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SYNE2	SUN1	O94901	999
SYNE2	SUN2	Q9UH99	999
SYNE2	EMD	P50402	994
SYNE2	LMNA	P02545	966
SYNE2	FHOD1	Q9Y613	928
SYNE2	TMEM67	Q5HYA8	910
SYNE2	LMNB1	P20700	816
SYNE2	FSCN1	Q16658	704
SYNE2	SYNE4	Q8N205	668
SYNE2	PLEC	Q15149	660
SYNE2	SYNE1	Q8NF91	655
SYNE2	KASH5	Q8N6L0	647
SYNE2	SUN3	Q8TAQ9	638
SYNE2	LEMD3	Q9Y2U8	605
SYNE2	TMEM43	Q9BTV4	591

IntAct

107 interactions, top by confidence:

A	B	Type	Score
SYNE2	SUN2	psi-mi:“MI:0403”(colocalization)	0.890
SUN2	SYNE2	psi-mi:“MI:0407”(direct interaction)	0.890
SYNE2	SUN2	psi-mi:“MI:0407”(direct interaction)	0.890
SYNE2	SUN2	psi-mi:“MI:0915”(physical association)	0.890
SUN2	SYNE1	psi-mi:“MI:0915”(physical association)	0.810
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
EFTUD2	SART1	psi-mi:“MI:0914”(association)	0.610
FHOD1	SYNE2	psi-mi:“MI:0915”(physical association)	0.580
STAT3	BANF1	psi-mi:“MI:0914”(association)	0.530
CAPN6	UBA6	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
EFTUD2	AQR	psi-mi:“MI:0914”(association)	0.530
NRM	ZMPSTE24	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
SLC30A4	OPA1	psi-mi:“MI:0914”(association)	0.530
SUN2	PIP	psi-mi:“MI:0914”(association)	0.530

BioGRID (257): SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Co-fractionation), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS), SYNE2 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2BID5, A0A8M9PQ61, A1Z7A6, D3ZHV2, E9Q557, F1LMV6, F1M0Z1, G3V7L1, O43150, O60229, O60437, O75962, O97592, O97902, P0CE94, P0CE95, P10911, P11530, P11531, P11532, P11533, P15924, P30427, P33175, P46939, Q03001, Q0KL02, Q15149, Q1AAU6, Q1LUA6, Q5GN48, Q6ZWR6, Q7SIG6, Q8CIS0, Q8NF91, Q8WXH0, Q91ZU6, Q92817, Q95RG8, Q9BXL7

Diamond homologs: A5D7D1, D3ZEN0, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, F1RA39, F6QZ15, G3MWR8, G3V7L1, L7UZ85, M9MRD1, O13728, O15020, O43707, O75369, O76329, O88990, O94851, O97592, P05094, P05095, P07751, P11277, P11530, P11531, P11532, P11533, P12814, P13395, P13466, P15508, P16086, P16546, P18091, P20111, P21333, P30427, P35609

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SYNE2	“form complex”	“LINC complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 122 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Translocation of SLC2A4 (GLUT4) to the plasma membrane	7	12.3×	6e-04
Programmed Cell Death	7	11.7×	6e-04
Apoptosis	6	11.4×	3e-03
Cell Cycle	11	4.5×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

4830 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	9
Uncertain significance	2661
Likely benign	1237
Benign	416

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
1027485	NM_182914.3(SYNE2):c.2970C>A (p.Tyr990Ter)	Pathogenic
1172818	NM_182914.3(SYNE2):c.16153C>T (p.Gln5385Ter)	Pathogenic
1710188	NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs)	Likely pathogenic
191047	NM_182914.3(SYNE2):c.4462C>T (p.Gln1488Ter)	Likely pathogenic
2506503	NM_182914.3(SYNE2):c.990_990+4del	Likely pathogenic
3027440	NM_182914.3(SYNE2):c.15533_15537del (p.Lys5178fs)	Likely pathogenic
425043	NM_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln)	Likely pathogenic
4279615	NM_182914.3(SYNE2):c.6790dup (p.Thr2264fs)	Likely pathogenic
4687900	NM_182914.3(SYNE2):c.9285del (p.Lys3095fs)	Likely pathogenic
4687961	NM_182914.3(SYNE2):c.4085dup (p.Asn1362fs)	Likely pathogenic
4820165	NM_182914.3(SYNE2):c.19900_19906dup (p.Val6636fs)	Likely pathogenic

SpliceAI

17812 predictions. Top by Δscore:

Variant	Effect	Δscore
14:63909090:A:AG	acceptor_gain	1.0000
14:63909091:C:G	acceptor_gain	1.0000
14:63909093:TTCA:T	acceptor_loss	1.0000
14:63909095:CAGTT:C	acceptor_loss	1.0000
14:63909096:A:AG	acceptor_gain	1.0000
14:63909097:G:GG	acceptor_gain	1.0000
14:63909097:GT:G	acceptor_gain	1.0000
14:63909097:GTT:G	acceptor_gain	1.0000
14:63909097:GTTC:G	acceptor_gain	1.0000
14:63909097:GTTCA:G	acceptor_gain	1.0000
14:63909224:CAAGG:C	donor_loss	1.0000
14:63909225:AAGG:A	donor_loss	1.0000
14:63909227:GGT:G	donor_loss	1.0000
14:63909228:G:A	donor_loss	1.0000
14:63909229:T:A	donor_loss	1.0000
14:63940608:T:A	acceptor_gain	1.0000
14:63940612:A:AG	acceptor_gain	1.0000
14:63940612:AGCT:A	acceptor_gain	1.0000
14:63940613:G:GC	acceptor_gain	1.0000
14:63940613:GC:G	acceptor_gain	1.0000
14:63940613:GCT:G	acceptor_gain	1.0000
14:63940613:GCTG:G	acceptor_gain	1.0000
14:63940672:CAGGG:C	donor_loss	1.0000
14:63940673:AGGGT:A	donor_loss	1.0000
14:63940674:GG:G	donor_gain	1.0000
14:63940674:GGGTA:G	donor_loss	1.0000
14:63940675:GG:G	donor_gain	1.0000
14:63940676:G:GG	donor_gain	1.0000
14:63940676:GT:G	donor_loss	1.0000
14:63940677:TAAG:T	donor_loss	1.0000

AlphaMissense

46084 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:64208905:T:A	W6117R	1.000
14:64208905:T:C	W6117R	1.000
14:64208907:G:C	W6117C	1.000
14:64208907:G:T	W6117C	1.000
14:64212019:T:C	L6261P	1.000
14:64212034:T:C	L6266P	1.000
14:64212040:T:C	L6268P	1.000
14:64214392:T:A	W6419R	1.000
14:64214392:T:C	W6419R	1.000
14:64214394:G:C	W6419C	1.000
14:64214394:G:T	W6419C	1.000
14:64202812:T:C	L6017P	0.999
14:64202896:T:C	L6045P	0.999
14:64208825:T:C	L6090P	0.999
14:64208903:G:C	R6116P	0.999
14:64208906:G:C	W6117S	0.999
14:64208936:G:C	R6127P	0.999
14:64209450:T:A	W6138R	0.999
14:64209450:T:C	W6138R	0.999
14:64209493:T:C	L6152P	0.999
14:64209979:T:C	L6193P	0.999
14:64209999:T:G	Y6200D	0.999
14:64210009:T:C	L6203P	0.999
14:64210024:G:C	R6208P	0.999
14:64210077:T:A	W6226R	0.999
14:64210077:T:C	W6226R	0.999
14:64210087:T:C	L6229P	0.999
14:64212094:T:C	L6286P	0.999
14:64212857:T:C	L6303P	0.999
14:64212878:T:C	L6310P	0.999

dbSNP variants (sampled 300 via entrez): RS1000000251 (14:64080399 T>C), RS1000005567 (14:64080671 T>G), RS1000012927 (14:64149301 A>C), RS1000015627 (14:64204072 G>A), RS1000018107 (14:63866006 C>G,T), RS1000025873 (14:63881620 A>G), RS1000026702 (14:63822792 G>A), RS1000034207 (14:64026686 C>T), RS1000038374 (14:63822434 G>A,T), RS1000040756 (14:64071627 T>C), RS1000056679 (14:64094759 G>A), RS1000061105 (14:64038807 C>T), RS1000064774 (14:63907600 G>A), RS1000067294 (14:63780482 C>T), RS1000081232 (14:63995794 G>C)

Disease associations

OMIM: gene MIM:608442 | disease phenotypes: MIM:612999, MIM:108600, MIM:159001, MIM:181350

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant Emery-Dreifuss muscular dystrophy	Supportive	Autosomal dominant
Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Limited	Autosomal dominant
left ventricular noncompaction	Limited	Autosomal dominant

Mondo (9): Emery-Dreifuss muscular dystrophy 5, autosomal dominant (MONDO:0013072), spastic ataxia (MONDO:0017845), cerebral palsy (MONDO:0006497), dilated cardiomyopathy (MONDO:0005021), long QT syndrome (MONDO:0002442), restrictive cardiomyopathy (MONDO:0005201), Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MONDO:0021569), left ventricular noncompaction (MONDO:0018901), autosomal dominant Emery-Dreifuss muscular dystrophy (MONDO:0020336)

Orphanet (5): Emery-Dreifuss muscular dystrophy (Orphanet:261), Spastic ataxia (Orphanet:316226), Dilated cardiomyopathy (Orphanet:217604), Restrictive cardiomyopathy (Orphanet:217632), Autosomal dominant limb-girdle muscular dystrophy type 1B (Orphanet:264)

HPO phenotypes

55 total (30 of 55 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000508	Ptosis
HP:0000767	Pectus excavatum
HP:0000912	Sprengel anomaly
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001288	Gait disturbance
HP:0001315	Reduced tendon reflexes
HP:0001387	Joint stiffness
HP:0001513	Obesity
HP:0001605	Vocal cord paralysis
HP:0001638	Cardiomyopathy
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001678	Atrioventricular block
HP:0001771	Achilles tendon contracture
HP:0002093	Respiratory insufficiency
HP:0002155	Hypertriglyceridemia
HP:0002486	Myotonia
HP:0002515	Waddling gait
HP:0002650	Scoliosis
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002808	Kyphosis
HP:0002987	Elbow flexion contracture
HP:0003141	Increased LDL cholesterol concentration
HP:0003198	Myopathy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003306	Spinal rigidity
HP:0003307	Hyperlordosis

GWAS associations

40 associations (top):

Study	Trait	p-value
GCST001444_32	Pulmonary function decline	6.000000e-07
GCST001499_9	Atrial fibrillation	6.000000e-13
GCST004295_9	Atrial fibrillation	1.000000e-10
GCST005648_25	Serum metabolite concentrations in chronic kidney disease	7.000000e-15
GCST005648_26	Serum metabolite concentrations in chronic kidney disease	5.000000e-12
GCST005650_209	Serum metabolite ratios in chronic kidney disease	5.000000e-22
GCST005839_35	Depression	8.000000e-10
GCST006061_169	Atrial fibrillation	2.000000e-29
GCST006061_170	Atrial fibrillation	1.000000e-24
GCST006414_22	Atrial fibrillation	3.000000e-31
GCST006988_89	Blond vs. brown/black hair color	6.000000e-15
GCST007505_14	Nevus count or cutaneous melanoma	4.000000e-08
GCST008479_12	Psoriasis	4.000000e-11
GCST008933_1	Sphingomyelin levels	3.000000e-26
GCST008933_11	Sphingomyelin levels	1.000000e-09
GCST008933_2	Sphingomyelin levels	1.000000e-19
GCST008933_3	Sphingomyelin levels	4.000000e-12
GCST008933_4	Sphingomyelin levels	4.000000e-11
GCST008933_5	Sphingomyelin levels	7.000000e-09
GCST009391_744	Metabolite levels	8.000000e-12
GCST009600_15	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-09
GCST009996_6	HDL cholesterol levels	2.000000e-07
GCST010302_40	Cutaneous melanoma or hair colour	6.000000e-27
GCST010303_31	Nevus count or cutaneous melanoma	6.000000e-13
GCST010304_2	Cutaneous malignant melanoma	6.000000e-08
GCST010320_122	PR interval	8.000000e-14
GCST010321_86	PR interval	6.000000e-14
GCST011011_23	Youthful appearance (self-reported)	3.000000e-14
GCST012020_173	Serum metabolite levels	5.000000e-18
GCST012020_336	Serum metabolite levels	2.000000e-16

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0003924	hair color
EFO:0004632	nevus count
EFO:0010118	sphingomyelin measurement
EFO:0010390	sphingomyelin 14:0 measurement
EFO:0007805	HDL cholesterol change measurement
EFO:0004462	PR interval

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002313	Cardiomyopathy, Restrictive	C14.280.238.160
D002547	Cerebral Palsy	C10.228.140.140.254
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
C535898	Limb-girdle muscular dystrophy, type 1B (supp.)
C564815	Spastic Ataxia (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
rs2781377	SYNE2		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression	4
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression, decreases methylation	4
bisphenol A	affects cotreatment, affects methylation, decreases expression, increases methylation	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance	3
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	3
trichostatin A	affects cotreatment, decreases expression	2
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	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
Arsenic	affects cotreatment, decreases expression, increases abundance	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Rotenone	decreases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Valproic Acid	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Particulate Matter	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
captax	decreases expression	1
propylparaben	decreases expression	1
decabromobiphenyl ether	decreases expression	1
cinnamaldehyde	decreases expression	1
beta-lapachone	decreases expression	1
1,6-hexamethylene diisocyanate	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
ammonium hexachloroplatinate	decreases expression	1
butyraldehyde	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00154830	PHASE4	COMPLETED	Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children
NCT00432055	PHASE4	COMPLETED	Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy
NCT00549471	PHASE4	TERMINATED	Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy
NCT00752934	PHASE4	TERMINATED	Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?
NCT00964639	PHASE4	COMPLETED	Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies
NCT01386255	PHASE4	WITHDRAWN	Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy
NCT02546999	PHASE4	COMPLETED	Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?
NCT02633241	PHASE4	COMPLETED	A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT03117322	PHASE4	COMPLETED	Synbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation
NCT03648658	PHASE4	UNKNOWN	Paracetamol Study in Patients With Low Muscle Mass
NCT04074265	PHASE4	COMPLETED	Peri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy
NCT04273737	PHASE4	TERMINATED	Amantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy
NCT04523935	PHASE4	COMPLETED	Excessive Crying in Children With Cerebral Palsy and Communication Deficits
NCT05887765	PHASE4	COMPLETED	Effect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery
NCT06176430	PHASE4	UNKNOWN	Comparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy
NCT06189781	PHASE4	RECRUITING	Pain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy
NCT00014989	PHASE3	COMPLETED	Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)
NCT00065949	PHASE3	UNKNOWN	Magnesium Sulfate to Prevent Brain Injury in Premature Infants
NCT00367068	PHASE3	COMPLETED	Dutch National ITB Study in Children With Cerebral Palsy
NCT00491894	PHASE3	COMPLETED	Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions
NCT00632528	PHASE3	COMPLETED	MEOPA to Improve Physical Therapy Results After Multilevel Surgery
NCT00822029	PHASE3	TERMINATED	Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy
NCT00922077	PHASE3	COMPLETED	Individualized Neurodevelopmental Treatment
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