GOLGA2

Summary

GOLGA2 (golgin A2, HGNC:4425) is a protein-coding gene on chromosome 9q34.11, encoding Golgin subfamily A member 2 (Q08379). Peripheral membrane component of the cis-Golgi stack that acts as a membrane skeleton that maintains the structure of the Golgi apparatus, and as a vesicle thether that facilitates vesicle fusion to the Golgi membrane.

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined.

Source: NCBI Gene 2801 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental delay with hypotonia, myopathy, and brain abnormalities (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 223 total — 7 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 27
• Druggable target: yes
• MANE Select transcript: NM_001366244

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4425
Approved symbol	GOLGA2
Name	golgin A2
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	GM130, golgin-95
Ensembl gene	ENSG00000167110
Ensembl biotype	protein_coding
OMIM	602580
Entrez	2801

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 16 protein_coding, 11 retained_intron, 3 nonsense_mediated_decay

ENST00000421699, ENST00000450617, ENST00000458730, ENST00000461031, ENST00000462089, ENST00000468488, ENST00000470630, ENST00000486411, ENST00000490257, ENST00000490628, ENST00000496221, ENST00000610329, ENST00000611957, ENST00000639983, ENST00000685377, ENST00000685382, ENST00000685900, ENST00000686291, ENST00000686884, ENST00000687179, ENST00000687681, ENST00000691040, ENST00000691841, ENST00000692923, ENST00000693047, ENST00000693180, ENST00000693185, ENST00000693514, ENST00000693736, ENST00000964637

RefSeq mRNA: 14 — MANE Select: NM_001366244 NM_001366244, NM_001366246, NM_001389695, NM_001389696, NM_001389697, NM_001389698, NM_001389699, NM_001389700, NM_001389701, NM_001389702, NM_001389703, NM_001389704, NM_001389705, NM_004486

CCDS: CCDS6896, CCDS94492, CCDS94493, CCDS94494, CCDS94495

Canonical transcript exons

ENST00000611957 — 27 exons

Exon	Start	End
ENSE00001109845	128257601	128257707
ENSE00001109847	128260076	128260189
ENSE00001109850	128267194	128267274
ENSE00001109860	128258455	128258570
ENSE00001145485	128267934	128267997
ENSE00001224982	128266287	128266325
ENSE00001225007	128268117	128268160
ENSE00001419847	128275893	128276007
ENSE00001650591	128257369	128257525
ENSE00001674173	128267458	128267517
ENSE00001723422	128257790	128257892
ENSE00001729805	128257980	128258198
ENSE00001797441	128272785	128272865
ENSE00001886811	128255829	128257281
ENSE00003460283	128261454	128261561
ENSE00003461690	128265585	128265691
ENSE00003464555	128262563	128262704
ENSE00003502912	128259167	128259391
ENSE00003525914	128265970	128266020
ENSE00003538849	128259007	128259082
ENSE00003581109	128261668	128261757
ENSE00003635686	128265788	128265881
ENSE00003789493	128263034	128263092
ENSE00003790740	128261172	128261259
ENSE00003978478	128268420	128268524
ENSE00003978480	128273850	128273972
ENSE00003978481	128260465	128260802

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 98.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.8906 / max 443.1959, expressed in 1813 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102681	30.3247	1807
102682	3.6259	1523
205625	0.6529	409
102680	0.2871	101

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pituitary gland	UBERON:0000007	98.47	gold quality
adenohypophysis	UBERON:0002196	98.41	gold quality
stromal cell of endometrium	CL:0002255	97.94	gold quality
sural nerve	UBERON:0015488	97.85	gold quality
calcaneal tendon	UBERON:0003701	97.59	gold quality
nipple	UBERON:0002030	97.54	gold quality
endocervix	UBERON:0000458	97.46	gold quality
pylorus	UBERON:0001166	97.43	gold quality
cardia of stomach	UBERON:0001162	97.29	gold quality
ectocervix	UBERON:0012249	97.27	gold quality
pharyngeal mucosa	UBERON:0000355	97.26	gold quality
right uterine tube	UBERON:0001302	97.20	gold quality
saphenous vein	UBERON:0007318	97.11	gold quality
superior surface of tongue	UBERON:0007371	97.03	gold quality
lower esophagus mucosa	UBERON:0035834	96.96	gold quality
right ovary	UBERON:0002118	96.83	gold quality
body of uterus	UBERON:0009853	96.75	gold quality
right coronary artery	UBERON:0001625	96.71	gold quality
left ovary	UBERON:0002119	96.71	gold quality
body of pancreas	UBERON:0001150	96.68	gold quality
skin of leg	UBERON:0001511	96.62	gold quality
right lobe of thyroid gland	UBERON:0001119	96.61	gold quality
minor salivary gland	UBERON:0001830	96.48	gold quality
endometrium epithelium	UBERON:0004811	96.43	gold quality
left lobe of thyroid gland	UBERON:0001120	96.38	gold quality
left uterine tube	UBERON:0001303	96.38	gold quality
fundus of stomach	UBERON:0001160	96.34	gold quality
ascending aorta	UBERON:0001496	96.28	gold quality
thoracic aorta	UBERON:0001515	96.28	gold quality
skin of abdomen	UBERON:0001416	96.22	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.62
E-GEOD-110499	no	201.27
E-MTAB-6379	no	94.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting GOLGA2, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-504-3P	99.30	67.18	1745

Literature-anchored findings (GeneRIF, showing 28)

• the cytoplasmic C terminus of HERG participates in the tethering or possibly targeting of HERG-containing vesicles within the Golgi via its interaction with GM130 (PMID:12270925)
• Mammalian Ste20 kinases YSK1 and MST4 target to the Golgi apparatus via the Golgi matrix protein GM130. (PMID:15037601)
• Ribbon formation requires the Golgi proteins GM130 and GRASP65. (PMID:16489344)
• This is the first report of a role for a Golgi apparatus protein in the regulation of centrosomes during interphase. (PMID:18045989)
• depletion of GM130 by RNA interference slows the rate of ER to Golgi trafficking in vivo; interactions of GM130 with syntaxin 5 and Rab1 are regulated by mitotic phosphorylation (PMID:18167358)
• Cdc42 has a novel role in controlling centrosome organization in unstimulated cells in addition to its known function as a regulator of centrosome reorientation in stimulated cells. (PMID:19109421)
• Data suggest that recruitment of AKAP450 on Golgi membranes through GM130 allows centrosome-associated nucleating activity to extend to the Golgi, to control the assembly of subsets of microtubules. (PMID:19242490)
• FXIII-A associated with podosomes & other structures adjacent to the plasma membrane, containing TGN46 & GM130 but not protein disulphide isomerase. FXIII-A was present in GM130-positive intracellular vesicles that could mediate its transport. (PMID:20086247)
• GM130 is involved in the control of glycosylation, cell cycle progression, cell polarization and directed cell migration, according to this review. (PMID:20197635)
• Induction of autophagy by shGOLGA2 may induce cell death rather than cell survival. Downregulation of GOLGA2/GM130 may be a potential therapeutic option for lung cancer. (PMID:22735382)
• H-ERG trafficking was impaired by H2O2 after 48 h treatment, accompanied by reciprocal changes of expression between miR-17-5p seed miRNAs and several chaperones (Hsp70, Hsc70, CANX, and Golga20) (PMID:24386440)
• GM130 is a parallel homotetramer with a flexible rod-like structure with I- and Y-shaped conformations. (PMID:25787021)
• Depletion of GM130 increases cellular velocity and increases the invasiveness of breast cancer cells, therefore supporting the view that alterations of polarity contribute to tumor progression. (PMID:25892554)
• the study identified GM130 as a novel target of Coxsackievirus B3 (CVB3), which may implicate in the pathogenesis of CVB3-induced acute pancreatitis. (PMID:26314804)
• Mutagenesis experiments support these structural observations and demonstrate that they are required for GRASP65-GM130 association. (PMID:26363069)
• GM130 upregulated expression of the key epithelial-mesenchymal transformation regulator Snail (SNAI1), which mediated EMT activation and cell invasion by GM130. (PMID:26617790)
• Data show that WAC directly binds to GM130 and that this binding is required for autophagosome formation through interacting with GABARAP regulating its subcellular localization. (PMID:26687599)
• We describe the first human patient with a homozygous apparently loss of function mutation in GOLGA2. The phenotype is a neuromuscular disorder characterized by developmental delay, seizures, progressive microcephaly, and muscular dystrophy. (PMID:26742501)
• In situ proximity ligation assays of Golgi localization of alpha-mannosidase IA at giantin versus GM130-GRASP65 site, and absence or presence of N-glycans terminated with alpha3-mannose on trans-Golgi glycosyltransferases may be useful for distinguishing indolent from aggressive prostate cancer cells. (PMID:28782625)
• SEPT1 function depends on the Golgi matrix protein GOLGA2 and on centrosomal proteins, including CEP170 and components of gamma-tubulin ring complex, to facilitate the perinuclear concentration of Golgi membranes. (PMID:30709970)
• DGAT1 Inhibitor Suppresses Prostate Tumor Growth and Migration by Regulating Intracellular Lipids and Non-Centrosomal MTOC Protein GM130. (PMID:30816200)
• GM130 expression was significantly decreased in tonsil tissues and peripheral blood mononuclear cells of IgA nephropathy (IgAN) patients. Downregulation of GM130 can increase IgA1 O-glycosylation deficiency, which is thought to reduce C1GALT1 expression but not affect the expression of ST6GalNAC2. GM130 plays an important role in IgA1 O-glycans deficiency in IgAN patients, by negatively regulating C1GALT1 expression. (PMID:30917363)
• Identification and Verification of Two Novel Differentially Expressed Proteins from Non-neoplastic Mucosa and Colorectal Carcinoma Via iTRAQ Combined with Liquid Chromatography-Mass Spectrometry. (PMID:30927204)
• Liquid-liquid phase separation of the Golgi matrix protein GM130. (PMID:31833055)
• Markers of malignant prostate cancer cells: Golgi localization of alpha-mannosidase 1A at GM130-GRASP65 site and appearance of high mannose N-glycans on cell surface. (PMID:32331836)
• Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family. (PMID:34424553)
• Associations of IFT20 and GM130 protein expressions with clinicopathological features and survival of patients with lung adenocarcinoma. (PMID:35869490)
• WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis. (PMID:37635409)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	golga2	ENSDARG00000063197
mus_musculus	Golga2	ENSMUSG00000002546
drosophila_melanogaster	GM130	FBGN0034697
caenorhabditis_elegans		WBGENE00018017

Paralogs (18): GOLGA6D (ENSG00000140478), GOLGA8F (ENSG00000153684), GOLGA6A (ENSG00000159289), GOLGA6C (ENSG00000167195), GOLGA8A (ENSG00000175265), GOLGA8Q (ENSG00000178115), GOLGA8J (ENSG00000179938), GOLGA8G (ENSG00000183629), GOLGA8R (ENSG00000186399), GOLGA8M (ENSG00000188626), GOLGA8O (ENSG00000206127), GOLGA6B (ENSG00000215186), GOLGA8B (ENSG00000215252), GOLGA8N (ENSG00000232653), GOLGA8K (ENSG00000249931), GOLGA8T (ENSG00000261247), GOLGA8S (ENSG00000261739), GOLGA8H (ENSG00000261794)

Protein

Protein identifiers

Golgin subfamily A member 2 — Q08379 (reviewed: Q08379)

Alternative names: 130 kDa cis-Golgi matrix protein, GM130 autoantigen, Golgin-95

All UniProt accessions (19): A0A087WYC0, A0A1W2PQY5, A0A6Q8KRG2, Q08379, A0A8I5KNZ1, A0A8I5KQL3, A0A8I5KRU0, A0A8I5KT73, A0A8I5KUW5, A0A8I5KYB0, A0A8I5KYU9, A0A8I5KZ34, A0A8I5KZ68, A0A8I5QJQ7, A0A8I5QL14, A0A8J9BZL8, B7ZC06, H0Y7B8, R4GND7

UniProt curated annotations — full annotation on UniProt →

Function. Peripheral membrane component of the cis-Golgi stack that acts as a membrane skeleton that maintains the structure of the Golgi apparatus, and as a vesicle thether that facilitates vesicle fusion to the Golgi membrane. Required for normal protein transport from the endoplasmic reticulum to the Golgi apparatus and the cell membrane. Together with p115/USO1 and STX5, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. Plays a central role in mitotic Golgi disassembly: phosphorylation at Ser-37 by CDK1 at the onset of mitosis inhibits the interaction with p115/USO1, preventing tethering of COPI vesicles and thereby inhibiting transport through the Golgi apparatus during mitosis. Also plays a key role in spindle pole assembly and centrosome organization. Promotes the mitotic spindle pole assembly by activating the spindle assembly factor TPX2 to nucleate microtubules around the Golgi and capture them to couple mitotic membranes to the spindle: upon phosphorylation at the onset of mitosis, GOLGA2 interacts with importin-alpha via the nuclear localization signal region, leading to recruit importin-alpha to the Golgi membranes and liberate the spindle assembly factor TPX2 from importin-alpha. TPX2 then activates AURKA kinase and stimulates local microtubule nucleation. Upon filament assembly, nascent microtubules are further captured by GOLGA2, thus linking Golgi membranes to the spindle. Regulates the meiotic spindle pole assembly, probably via the same mechanism. Also regulates the centrosome organization. Also required for the Golgi ribbon formation and glycosylation of membrane and secretory proteins.

Subunit / interactions. Homodimer, may assemble into homohexamers. Homotetramer; forms a parallel homotetramer with a flexible rod-like structure that can give rise to I- and Y-shaped conformations. Interacts with GORASP1/GRASP65. The homooligomer forms a complex with GORASP1 with a 1:1 stoichiometry. Interacts with RAB1B that has been activated by GTP-binding. Interacts with p115/USO1; interaction with p115/USO1 inhibits interaction with STX5 and/or RAB1B. Interacts with STX5. Interacts with ZFPL1. Interacts with AKAP450/AKAP9; leading to recruit AKAP450/AKAP9 to the cis-Golgi.

Subcellular location. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cytoplasm. Cytoskeleton. Spindle pole.

Post-translational modifications. Cleaved by caspases at the onset of apoptosis. Methylation by PRMT5 is required for Golgi ribbon formation. While dimethylation at Arg-30 and Arg-35 are confirmed in vivo, it is unclear whether Arg-18 is methylated in vivo. Phosphorylated at Ser-37 by CDK1 at the onset of mitosis, inhibiting the interaction with p115/USO1 and triggering Golgi disassembly. Phosphorylated at Ser-37 in prophase as the Golgi complex starts to break down, and remains phosphorylated during further breakdown and partitioning of the Golgi fragments in metaphase and anaphase. In telophase, GM130 is dephosphorylated by PP2A as the Golgi fragments start to reassemble.

Disease relevance. Developmental delay with hypotonia, myopathy, and brain abnormalities (DEDHMB) [MIM:620240] An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and muscle weakness apparent in infancy, microcephaly, seizures, central hypotonia, and skeletal muscle myopathy. Brain imaging shows cerebral atrophy, thinning of the corpus callosum, and delayed myelination. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Extended rod-like protein with long coiled-coil domains. The nuclear localization signal (cNLS) mediates interaction with importin-alpha, recruiting importin-alpha to the Golgi membrane and liberating TPX2.

Similarity. Belongs to the GOLGA2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q08379-1	1	yes
Q08379-2	2

RefSeq proteins (14): NP_001353173, NP_001353175, NP_001376624, NP_001376625, NP_001376626, NP_001376627, NP_001376628, NP_001376629, NP_001376630, NP_001376631, NP_001376632, NP_001376633, NP_001376634, NP_004477 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024858	GOLGA	Family
IPR043937	GOLGA_C	Conserved_site
IPR043976	GOLGA_cons_dom	Domain

Pfam: PF15070, PF19046

UniProt features (35 total): modified residue 11, mutagenesis site 7, region of interest 4, compositionally biased region 4, sequence variant 2, sequence conflict 2, chain 1, splice variant 1, helix 1, coiled-coil region 1, short sequence motif 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6K06	X-RAY DIFFRACTION	1.75
4REY	X-RAY DIFFRACTION	1.96
6IWA	X-RAY DIFFRACTION	2.4
6IW8	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08379-F1	76.24	0.46

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 (11): 18, 30, 35, 37, 66, 273, 438, 690, 937, 953, 981

Mutagenesis-validated functional residues (7):

Position	Phenotype
18	impaired methylation; when associated with r-30 and r-35.
26–49	abolishes interaction with importin-alpha.
30	impaired methylation; when associated with r-18 and r-35.
35	impaired methylation; when associated with r-18 and r-35.
37	phosphomimetic mutant. does not affect interaction with importin-alpha.
987	abolishes interaction with gorasp1. abolishes membrane clustering.
1002	abolishes interaction with gorasp1. abolishes membrane clustering.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-162658	Golgi Cisternae Pericentriolar Stack Reorganization
R-HSA-204005	COPII-mediated vesicle transport
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-8862803	Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer’s disease models

MSigDB gene sets: 265 (showing top): GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_REGULATION_OF_PROTEIN_BINDING, GOBP_PROTEIN_HOMOTETRAMERIZATION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MICROTUBULE_NUCLEATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_ASYMMETRIC_CELL_DIVISION, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_NEGATIVE_REGULATION_OF_AUTOPHAGY, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN

GO Biological Process (20): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), microtubule nucleation (GO:0007020), Golgi organization (GO:0007030), centrosome cycle (GO:0007098), asymmetric cell division (GO:0008356), glycoprotein biosynthetic process (GO:0009101), negative regulation of autophagy (GO:0010507), protein transport (GO:0015031), negative regulation of protein binding (GO:0032091), spindle assembly (GO:0051225), protein homotetramerization (GO:0051289), Golgi ribbon formation (GO:0090161), Golgi disassembly (GO:0090166), meiotic spindle assembly (GO:0090306), mitotic spindle assembly (GO:0090307), regulation of post-translational protein modification (GO:1901873), obsolete protein glycosylation (GO:0006486), SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617), cell division (GO:0051301), obsolete positive regulation of protein glycosylation (GO:0060050)

GO Molecular Function (7): microtubule binding (GO:0008017), protein kinase binding (GO:0019901), syntaxin binding (GO:0019905), identical protein binding (GO:0042802), cadherin binding (GO:0045296), importin-alpha family protein binding (GO:0061676), protein binding (GO:0005515)

GO Cellular Component (14): Golgi cis cisterna (GO:0000137), Golgi membrane (GO:0000139), spindle pole (GO:0000922), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), microtubule (GO:0005874), COPII-coated ER to Golgi transport vesicle (GO:0030134), Golgi cisterna membrane (GO:0032580), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), mitotic spindle (GO:0072686), cytoplasm (GO:0005737), signal recognition particle, endoplasmic reticulum targeting (GO:0005786), cytoskeleton (GO:0005856), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
ER to Golgi Anterograde Transport	2
Mitotic Prophase	1
Neurodegenerative Diseases	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	3
cellular anatomical structure	3
cytoplasm	2
Golgi organization	2
spindle assembly	2
Golgi cisterna	2
Golgi apparatus	2
bounding membrane of organelle	2
spindle	2
intracellular membrane-bounded organelle	2
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
microtubule cytoskeleton organization	1
microtubule polymerization	1
organelle organization	1
endomembrane system organization	1
cell cycle process	1
microtubule organizing center organization	1
cell division	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
autophagy	1
negative regulation of catabolic process	1
regulation of autophagy	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
regulation of protein binding	1
negative regulation of binding	1
spindle organization	1
chromosome segregation	1
membraneless organelle assembly	1
protein homooligomerization	1
protein tetramerization	1
Golgi inheritance	1
organelle disassembly	1
meiotic spindle organization	1
meiotic chromosome segregation	1

Protein interactions and networks

STRING

2410 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA2	GORASP1	Q9BQQ3	996
GOLGA2	USO1	O60763	974
GOLGA2	AKAP9	Q99996	947
GOLGA2	STK25	O00506	941
GOLGA2	GORASP2	Q9H8Y8	938
GOLGA2	GOLGA3	Q08378	915
GOLGA2	GOLGB1	Q14789	912
GOLGA2	GOLPH3	Q9H4A6	902
GOLGA2	RAB1B	Q9H0U4	892
GOLGA2	LMAN1	P49257	828
GOLGA2	STRADA	Q7RTN6	820
GOLGA2	TGOLN2	O43493	798
GOLGA2	COPB1	P53618	797
GOLGA2	STX5	Q13190	785
GOLGA2	WHAMM	Q8TF30	749

IntAct

2178 interactions, top by confidence:

A	B	Type	Score
GOLGA2	STK25	psi-mi:“MI:0915”(physical association)	0.960
GOLGA2	PRKAB2	psi-mi:“MI:0915”(physical association)	0.880
CCNH	GOLGA2	psi-mi:“MI:0915”(physical association)	0.870
PRPF31	GOLGA2	psi-mi:“MI:0915”(physical association)	0.860
GOLGA2	CDC73	psi-mi:“MI:0915”(physical association)	0.850
BCAS2	GOLGA2	psi-mi:“MI:0915”(physical association)	0.840
RAB2A	GOLGA2	psi-mi:“MI:0915”(physical association)	0.830
GOLGA2	GSE1	psi-mi:“MI:0915”(physical association)	0.830
RBM17	GOLGA2	psi-mi:“MI:0915”(physical association)	0.830
GFAP	GOLGA2	psi-mi:“MI:0915”(physical association)	0.810
NCF2	GOLGA2	psi-mi:“MI:0915”(physical association)	0.810
GOLGA2	ZGPAT	psi-mi:“MI:0915”(physical association)	0.810
ZNF250	GOLGA2	psi-mi:“MI:0915”(physical association)	0.790
TCL1A	GOLGA2	psi-mi:“MI:0915”(physical association)	0.790
ZBTB16	GOLGA2	psi-mi:“MI:0915”(physical association)	0.790
GOLGA2	MORN3	psi-mi:“MI:0915”(physical association)	0.790
FAM90A1	GOLGA2	psi-mi:“MI:0915”(physical association)	0.790
CCHCR1	GOLGA2	psi-mi:“MI:0915”(physical association)	0.790
GOLGA2	LENG1	psi-mi:“MI:0915”(physical association)	0.790
GOLGA2	NTAQ1	psi-mi:“MI:0915”(physical association)	0.790
GOLGA2	KRT6A	psi-mi:“MI:0915”(physical association)	0.780
KRT18	GOLGA2	psi-mi:“MI:0915”(physical association)	0.780
GOLGA2	DDX6	psi-mi:“MI:0915”(physical association)	0.780
ARL16	GOLGA2	psi-mi:“MI:0915”(physical association)	0.780
GOLGA2	KANK2	psi-mi:“MI:0915”(physical association)	0.780
ZNF774	GOLGA2	psi-mi:“MI:0915”(physical association)	0.780
GOLGA2	C12orf50	psi-mi:“MI:0915”(physical association)	0.780
GOLGA2	GPKOW	psi-mi:“MI:0915”(physical association)	0.780
GOLGA2	ZNF414	psi-mi:“MI:0915”(physical association)	0.780

BioGRID (1109): GOLGA2 (Two-hybrid), GOLGA2 (Reconstituted Complex), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid), GOLGA2 (Two-hybrid)

ESM2 similar proteins: A0PJP4, A0PJT0, A1A600, A2A6T1, A4IFK7, D3YV10, D3ZUQ0, G9G127, P97817, Q08379, Q0IHE5, Q0P4J3, Q17QG3, Q499E4, Q5EBL4, Q5RCR6, Q5RD32, Q5VU43, Q5XIA0, Q5XJA2, Q5ZJA3, Q61043, Q62839, Q6AYA0, Q6DFC2, Q6IP02, Q6NZT2, Q80YF0, Q86X02, Q86YS3, Q8BH60, Q8BQP8, Q8C2K1, Q8IYE1, Q8N4C6, Q91WG2, Q921M4, Q92574, Q969X0, Q96CN9

Diamond homologs: A0A1B0GV03, A1IH00, A6NC78, A6NCC3, A6NDK9, A6NDN3, A6NEF3, A6NEM1, A6NI86, A6NN73, A7E2F4, A8MQT2, A8MZA4, F8WBI6, H0YKK7, H0YM25, H3BPF8, H3BSY2, H3BV12, I6L899, P0CG33, P0CJ92, P0DX00, P0DX01, P0DX02, P0DX52, P0DX53, Q08379, Q62839, Q8N7Z2, Q8N9W4, Q921M4, Q9NYA3, A6NMD2, D6RF30, H3BQL2, Q0D2H9, Q9HBQ8

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
GOLGA2	“up-regulates quantity by stabilization”	GORASP1	binding
GOLGB1	“up-regulates activity”	GOLGA2	binding
GOLGA2	“up-regulates activity”	GORASP1	binding
CDK1	down-regulates	GOLGA2	phosphorylation
RAB1A	“up-regulates activity”	GOLGA2	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 184 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
ROS and RNS production in phagocytes	5	14.2×	2e-03
mRNA Splicing	12	11.2×	2e-07
RNA Polymerase II Transcription Termination	6	11.2×	2e-03
mRNA 3’-end processing	6	10.0×	2e-03
Processing of Capped Intron-Containing Pre-mRNA	12	8.4×	4e-06
mRNA Splicing - Major Pathway	16	7.4×	2e-07
Regulation of TP53 Activity through Phosphorylation	7	7.0×	3e-03
mRNA Polyadenylation	8	6.0×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	12	6.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	3
Uncertain significance	151
Likely benign	24
Benign	2

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
2043422	NM_001366244.2(GOLGA2):c.1582G>T (p.Glu528Ter)	Pathogenic
2078580	NM_001366244.2(GOLGA2):c.615_618del (p.Lys205fs)	Pathogenic
2144782	NM_001366244.2(GOLGA2):c.651_652del (p.Asn218fs)	Pathogenic
2443815	NM_001366244.2(GOLGA2):c.1347_1350del (p.Glu450fs)	Pathogenic
2443816	NM_001366244.2(GOLGA2):c.1675_1676insACCG (p.Arg559fs)	Pathogenic
3775938	NM_001366244.2(GOLGA2):c.2054_2057del (p.Lys685fs)	Pathogenic
4292225	NM_001366244.2(GOLGA2):c.1120del (p.Leu374fs)	Pathogenic
1878639	NM_001366244.2(GOLGA2):c.2332C>T (p.Gln778Ter)	Likely pathogenic
2177033	NM_001366244.2(GOLGA2):c.2718+2T>C	Likely pathogenic
4845782	NM_001366244.2(GOLGA2):c.1495C>T (p.Leu499=)	Likely pathogenic

SpliceAI

3087 predictions. Top by Δscore:

Variant	Effect	Δscore
9:128257277:AAGAT:A	acceptor_gain	1.0000
9:128257278:AGAT:A	acceptor_gain	1.0000
9:128257279:GAT:G	acceptor_gain	1.0000
9:128257281:TCTT:T	acceptor_loss	1.0000
9:128257282:C:CC	acceptor_gain	1.0000
9:128257282:C:CG	acceptor_loss	1.0000
9:128257283:T:C	acceptor_gain	1.0000
9:128257284:T:C	acceptor_gain	1.0000
9:128257284:T:TC	acceptor_gain	1.0000
9:128257361:CTACT:C	donor_loss	1.0000
9:128257366:CA:C	donor_loss	1.0000
9:128257367:A:AC	donor_gain	1.0000
9:128257367:A:T	donor_loss	1.0000
9:128257367:ACCAC:A	donor_gain	1.0000
9:128257368:C:CC	donor_gain	1.0000
9:128257368:CCA:C	donor_gain	1.0000
9:128257368:CCACC:C	donor_gain	1.0000
9:128257523:CAC:C	acceptor_gain	1.0000
9:128257525:CCTGG:C	acceptor_loss	1.0000
9:128257526:C:CC	acceptor_gain	1.0000
9:128257596:CCTAC:C	donor_loss	1.0000
9:128257599:A:AC	donor_gain	1.0000
9:128257599:A:C	donor_loss	1.0000
9:128257600:C:CA	donor_loss	1.0000
9:128257600:C:CC	donor_gain	1.0000
9:128257611:T:TA	donor_gain	1.0000
9:128257703:CTCTC:C	acceptor_gain	1.0000
9:128257705:CTC:C	acceptor_gain	1.0000
9:128257706:TC:T	acceptor_gain	1.0000
9:128257707:CC:C	acceptor_gain	1.0000

AlphaMissense

6733 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:128265856:A:G	L226P	0.999
9:128257509:A:G	L885P	0.998
9:128257813:A:G	L836P	0.998
9:128257188:A:G	I963T	0.997
9:128257626:A:G	L871P	0.997
9:128260508:A:G	L545P	0.997
9:128265827:C:G	A236P	0.997
9:128265847:T:A	E229V	0.997
9:128265856:A:T	L226H	0.997
9:128265859:A:G	I225T	0.997
9:128257518:A:G	L882P	0.996
9:128257702:A:G	Y846H	0.996
9:128257792:A:T	I843N	0.996
9:128257834:A:G	L829P	0.996
9:128260487:A:G	L552P	0.996
9:128260496:A:G	L549P	0.996
9:128265842:C:G	A231P	0.996
9:128265851:A:G	S228P	0.996
9:128273971:A:G	L29S	0.996
9:128257188:A:C	I963S	0.995
9:128257690:A:C	Y850D	0.995
9:128265835:A:G	L233S	0.995
9:128265844:T:A	K230I	0.995
9:128265865:A:T	I223K	0.995
9:128257179:A:G	L966P	0.994
9:128257624:C:G	A872P	0.994
9:128257676:C:A	R854S	0.994
9:128257676:C:G	R854S	0.994
9:128260530:C:G	A538P	0.994
9:128257613:C:A	K875N	0.993

dbSNP variants (sampled 300 via entrez): RS1000329079 (9:128274335 G>A,C,T), RS1000425640 (9:128274686 G>A), RS1000532506 (9:128270649 G>A), RS1000599684 (9:128270892 A>G,T), RS1000666890 (9:128275729 T>A,C), RS1000874905 (9:128268761 A>C), RS1000960311 (9:128258475 G>A,C), RS1001065317 (9:128262134 G>C), RS1001326881 (9:128269052 C>G), RS1001532989 (9:128269100 T>G), RS1001794468 (9:128263135 G>A), RS1002164820 (9:128262826 C>T), RS1002215928 (9:128275404 C>A,T), RS1002268389 (9:128275668 C>A,G), RS1002428136 (9:128261352 A>G)

Disease associations

OMIM: gene MIM:602580 | disease phenotypes: MIM:620240

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental delay with hypotonia, myopathy, and brain abnormalities	Strong	Autosomal recessive

Mondo (2): neuromuscular disease (MONDO:0019056), developmental delay with hypotonia, myopathy, and brain abnormalities (MONDO:0859375)

Orphanet (1): Neuromuscular disease (Orphanet:68381)

HPO phenotypes

27 total (27 of 27 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000319	Smooth philtrum
HP:0000341	Narrow forehead
HP:0000347	Micrognathia
HP:0000486	Strabismus
HP:0000750	Delayed speech and language development
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001371	Flexion contracture
HP:0001508	Failure to thrive
HP:0002120	Cerebral cortical atrophy
HP:0002169	Clonus
HP:0002188	Delayed CNS myelination
HP:0002521	Hypsarrhythmia
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003593	Infantile onset
HP:0005280	Depressed nasal bridge
HP:0007359	Focal-onset seizure
HP:0010804	Tented upper lip vermilion
HP:0011220	Prominent forehead
HP:0012444	Brain atrophy
HP:0012469	Infantile spasms
HP:0033725	Thin corpus callosum
HP:0100295	Muscle fiber atrophy

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST005951_65	Body mass index	5.000000e-09
GCST010988_409	Adult body size	1.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009468	Neuromuscular Diseases	C10.668

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067327 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.69	Kd	205.5	nM	CHEMBL5653589
6.69	ED50	205.5	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148447: Binding affinity to human GOLGA2 incubated for 45 mins by Kinobead based pull down assay	kd	0.2055	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Valproic Acid	increases expression, increases methylation	3
Air Pollutants	affects expression, increases abundance, decreases expression	2
Smoke	decreases expression, increases abundance	2
Cyclosporine	increases expression	2
FR900359	decreases phosphorylation	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
torcetrapib	increases expression	1
abrine	increases expression	1
eprenetapopt	affects expression, affects reaction	1
(+)-JQ1 compound	increases expression	1
Arsenic Trioxide	increases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Caffeine	decreases phosphorylation	1
Carmustine	decreases expression	1
Chloroquine	affects localization	1
Coumestrol	decreases expression, affects cotreatment	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dietary Carbohydrates	decreases expression	1
Dinitrochlorobenzene	affects binding	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Folic Acid	decreases expression	1
Furaldehyde	affects cotreatment, affects localization, decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651489	Binding	Binding affinity to human GOLGA2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SQ25	HAP1 GOLGA2 (-) 1	Cancer cell line	Male
CVCL_XP26	HAP1 GOLGA2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00331656	PHASE4	UNKNOWN	Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552	PHASE4	UNKNOWN	Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00942227	PHASE3	COMPLETED	The Value of Traction in Treatment of Lumbar Radiculopathy
NCT00979108	PHASE3	COMPLETED	The Value of Traction in the Treatment of Cervical Radiculopathy
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT02090959	PHASE3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02436096	PHASE3	COMPLETED	A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02829814	PHASE3	TERMINATED	Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631	PHASE3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05156320	PHASE3	COMPLETED	Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
NCT05337553	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
NCT05626855	PHASE3	ACTIVE_NOT_RECRUITING	Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT01074359	PHASE2	TERMINATED	Safety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation
NCT01371149	PHASE2	COMPLETED	Patient -Ventilator Interaction in Chronic Respiratory Failure
NCT02022072	PHASE2	TERMINATED	Evaluation of Vital Capacity
NCT03127514	PHASE2	COMPLETED	AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT03406780	PHASE2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT03921528	PHASE2	COMPLETED	An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
NCT05479981	PHASE2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06339580	PHASE2	RECRUITING	Assessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease
NCT07071935	PHASE2	NOT_YET_RECRUITING	A Clinical Trial of Early Ventilation in Amyotrophic Lateral Sclerosis (EVENT ALS)
NCT07287189	PHASE2	RECRUITING	Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT00252252	PHASE1	COMPLETED	AutoVPAP Versus VPAP; Assessment of Sleep and Ventilation
NCT01560741	PHASE1	UNKNOWN	Telemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation
NCT01621984	PHASE1	COMPLETED	Therapeutic Riding and Neuromuscular Disease
NCT01758510	PHASE1	COMPLETED	Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis
NCT03440034	PHASE1	COMPLETED	Study of Pioglitazone in Sporadic Inclusion Body Myositis
NCT05730842	PHASE1	COMPLETED	Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
NCT03272802	PHASE2/PHASE3	UNKNOWN	Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT00860951	PHASE1/PHASE2	COMPLETED	P300 Brain Computer Interface Keyboard to Operate Assistive Technology
NCT02362425	PHASE1/PHASE2	COMPLETED	Antioxidant Therapy in RYR1-Related Congenital Myopathy
NCT00001201	Not specified	COMPLETED	Evaluation of Neuromuscular Disease
NCT00002044	Not specified	COMPLETED	A Pilot Study To Evaluate the Effect of Retrovir (Zidovudine: AZT) in the Treatment of Human Immunodeficiency Virus (HIV) Associated Dementia and Neuromuscular Diseases
NCT00004553	Not specified	COMPLETED	Electromyography to Diagnose Neuromuscular Disorders
NCT00015470	Not specified	COMPLETED	Diagnostic Evaluation of Patients With Neuromuscular Disease
NCT00017745	Not specified	COMPLETED	Phenotype/Genotype Correlations in Neuromuscular Disorders
NCT00695591	Not specified	COMPLETED	Home Sleep Testing in Neuromuscular Disease Patients