SPTBN2

Summary

SPTBN2 (spectrin beta, non-erythrocytic 2, HGNC:11276) is a protein-coding gene on chromosome 11q13.2, encoding Spectrin beta chain, non-erythrocytic 2 (O15020). Probably plays an important role in neuronal membrane skeleton.

Spectrins are principle components of a cell’s membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements.

Source: NCBI Gene 6712 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal recessive spinocerebellar ataxia 14 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 1,407 total — 25 pathogenic, 28 likely-pathogenic
• Phenotypes (HPO): 45
• MANE Select transcript: NM_006946

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11276
Approved symbol	SPTBN2
Name	spectrin beta, non-erythrocytic 2
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000173898
Ensembl biotype	protein_coding
OMIM	604985
Entrez	6712

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 14 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000309996, ENST00000528051, ENST00000529997, ENST00000530665, ENST00000530775, ENST00000532650, ENST00000532902, ENST00000533211, ENST00000611817, ENST00000617502, ENST00000647510, ENST00000682471, ENST00000713737, ENST00000713738, ENST00000713739, ENST00000713740, ENST00000713741, ENST00000713742, ENST00000888769, ENST00000930530, ENST00000930531, ENST00000961397

RefSeq mRNA: 2 — MANE Select: NM_006946 NM_001411025, NM_006946

CCDS: CCDS8150, CCDS91511

Canonical transcript exons

ENST00000533211 — 38 exons

Exon	Start	End
ENSE00001187901	66688653	66688849
ENSE00001187927	66690039	66690283
ENSE00001187935	66691284	66691658
ENSE00001187940	66692536	66692740
ENSE00001187950	66692970	66693100
ENSE00001187956	66693186	66693446
ENSE00001187965	66693772	66693861
ENSE00001187979	66694139	66694363
ENSE00001188009	66698992	66699082
ENSE00001188017	66699406	66699608
ENSE00001188026	66700526	66701282
ENSE00001188033	66701584	66701721
ENSE00001188040	66704598	66705468
ENSE00001188049	66705684	66705837
ENSE00001188053	66707516	66707818
ENSE00001188065	66708141	66708299
ENSE00001188071	66708902	66709019
ENSE00001188080	66710582	66710769
ENSE00001188096	66713631	66713746
ENSE00001188110	66714091	66714171
ENSE00001188138	66715830	66715981
ENSE00002140245	66728741	66729216
ENSE00002188137	66682497	66686104
ENSE00002430051	66710917	66711029
ENSE00002452586	66698639	66698785
ENSE00002485850	66714316	66714407
ENSE00002515455	66715222	66715395
ENSE00003622224	66689805	66689943
ENSE00003650989	66696277	66696540
ENSE00003663248	66689096	66689180
ENSE00004021092	66688169	66688311
ENSE00004021094	66721350	66721440
ENSE00004021095	66687427	66687647
ENSE00004021099	66721084	66721262
ENSE00004021100	66686398	66686440
ENSE00004021101	66686994	66687167
ENSE00004021102	66687868	66687918
ENSE00004021103	66688004	66688079

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 99.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3978 / max 387.5476, expressed in 1014 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120838	2.3522	768
120833	2.1650	286
120846	2.0404	177
120840	0.6495	319
120847	0.5948	91
120832	0.4207	153
120837	0.4138	234
120843	0.3550	123
120844	0.2821	134
120839	0.2649	114

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.10	gold quality
cerebellar hemisphere	UBERON:0002245	98.75	gold quality
cerebellar cortex	UBERON:0002129	98.67	gold quality
right frontal lobe	UBERON:0002810	98.32	gold quality
skin of leg	UBERON:0001511	98.05	gold quality
skin of abdomen	UBERON:0001416	97.84	gold quality
cortical plate	UBERON:0005343	97.68	gold quality
cerebellum	UBERON:0002037	97.52	gold quality
ganglionic eminence	UBERON:0004023	96.90	gold quality
prefrontal cortex	UBERON:0000451	96.76	gold quality
zone of skin	UBERON:0000014	96.74	gold quality
left testis	UBERON:0004533	96.73	gold quality
right testis	UBERON:0004534	96.73	gold quality
metanephros cortex	UBERON:0010533	96.58	gold quality
cingulate cortex	UBERON:0003027	96.30	gold quality
anterior cingulate cortex	UBERON:0009835	96.28	gold quality
lower esophagus mucosa	UBERON:0035834	96.18	gold quality
nucleus accumbens	UBERON:0001882	95.99	gold quality
esophagus mucosa	UBERON:0002469	95.57	gold quality
amygdala	UBERON:0001876	95.32	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.12	gold quality
gingiva	UBERON:0001828	94.86	gold quality
gingival epithelium	UBERON:0001949	94.68	gold quality
upper leg skin	UBERON:0004262	94.59	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.43	gold quality
frontal cortex	UBERON:0001870	94.35	gold quality
neocortex	UBERON:0001950	94.31	gold quality
oral cavity	UBERON:0000167	94.11	gold quality
mammalian vulva	UBERON:0000997	93.90	gold quality
skin of hip	UBERON:0001554	93.61	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.98
E-MTAB-6142	no	18.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting SPTBN2, 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-6133	100.00	66.48	2064
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-1827	99.63	68.57	3265

Literature-anchored findings (GeneRIF, showing 31)

• beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln’s grandparents and two additional families. (PMID:16429157)
• None of the Spinocerebellar Ataxia individuals tested had evidence for one of the known SCA5 mutations. (PMID:17940722)
• Adducin acting through spectrin provides a novel mechanism to regulate global properties of the lateral membrane of bronchial epithelial cells. (PMID:18003973)
• the crystal structure of the ankyrin-binding domain of human beta2-spectrin at 1.95 A resolution together with mutagenesis data identifying the binding surface for ankyrins on beta2-spectrin. (PMID:19098307)
• TGF-beta signaling, particularly beta2SP, plays a critical role in hepatocyte proliferation and transitional phenotype. (PMID:20131405)
• A mouse model lacking full-length beta-III spectrin reproduces features of human spinocerebellar ataxia type 5 including gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy. (PMID:20371805)
• Results suggest that it is possible for cellular proteins to differentially associate with the C-termini of different beta-spectrin isoforms to regulate alpha- and beta-spectrin association to form functional spectrin tetramers. (PMID:21412925)
• This review summarizes data showing that beta-III spectrin mutations are a novel cause of neurodegenerative disease, which may affect the stabilization or trafficking of membrane proteins. (PMID:21827906)
• two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power (PMID:22457146)
• A novel missense mutation within a SPTBN2 spectrin repeat encoded by exon 12 was found in a family with spinocerebellar ataxia type 5. (PMID:22843192)
• betaIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complex (PMID:23233669)
• the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits (PMID:23236289)
• A homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family. (PMID:23838597)
• Mutant beta-III spectrin causes mislocalization and dysfunction of mGluR1alpha at dendritic spines. (PMID:25057192)
• First Japanese spinocerebellar ataxia type 5 (SCA5) family with a novel heterozygous three-nucleotide in-frame deletion mutation in the SPTBN2 gene. (PMID:25142508)
• investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2 (PMID:25981959)
• TGF-beta/beta2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. (PMID:26784546)
• This study indicates that high-affinity actin binding of L253P beta-III-spectrin is a likely driver of neurodegeneration. (PMID:26883385)
• beta2-Spectrin, a TGF-beta mediator and signaling molecule, is cleaved and activated by caspase-3/7, consequently enhancing apoptosis and transcriptional control to determine cell fate upon liver damage. (PMID:26884715)
• Cardiac beta2-spectrin and downstream molecules are regulated in multiple forms of cardiovascular disease via Ca(2+)- and calpain-dependent proteolysis. (PMID:27106045)
• the proposed methodology is validated against betaII-spectrin protein, a brain injury validated biomarker (PMID:28112201)
• SCA5 missense mutation found in the spinocerebellar ataxia type 5 perturbs a closed-open structural equilibrium in the SCA5-actin-binding domain by lowering the energetic barrier between structural states. (PMID:29116080)
• Study reviews the previously reported SPTBN2 mutations and cases. Moreover, the novel homozygous missense variant (c.1572C>T; p.R414C) in two brothers adds up to the literature for the infantile-onset form of autosomal recessive ataxia associated with SPTBN2. (PMID:29196973)
• High SPTBN2 expression is associated with malignant peripheral nerve sheath tumors. (PMID:29596596)
• Study revealed that betaIII spectrin was weakly stained or lost in most poorly differentiated hepatocellular carcinoma (HCC) cases but retained moderate to strong stain in most cholangiocarcinoma (CC) cases. These findings suggest, for the first time, that betaIII spectrins could be helpful in differentiating poorly differentiated HCC from CC. (PMID:30798076)
• Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5. (PMID:33797620)
• Expanding the beta-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. (PMID:33801522)
• SPTBN2 Promotes the Progression of Thyroid Cancer by Accelerating G1/S Transition and Inhibiting Apoptosis. (PMID:35968508)
• Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in beta-III-Spectrin. (PMID:37626910)
• SPTBN2 suppresses ferroptosis in NSCLC cells by facilitating SLC7A11 membrane trafficking and localization. (PMID:38241838)
• SPTBN2 regulated by miR-214-3p inhibits the proliferation and migration of colorectal cancer cells. (PMID:38279463)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sptbn2	ENSDARG00000053956
mus_musculus	Sptbn2	ENSMUSG00000067889
rattus_norvegicus	Sptbn2	ENSRNOG00000058842

Paralogs (36): SYNE2 (ENSG00000054654), 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), 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

Spectrin beta chain, non-erythrocytic 2 — O15020 (reviewed: O15020)

Alternative names: Beta-III spectrin, Spinocerebellar ataxia 5 protein

All UniProt accessions (8): O15020, A0A087WYQ1, A0AAQ5BGS8, A0AAQ5BGT4, A0AAQ5BGT9, A0AAQ5BGU2, A0AAQ5BGW1, A4QPE4

UniProt curated annotations — full annotation on UniProt →

Function. Probably plays an important role in neuronal membrane skeleton.

Subcellular location. Cytoplasm. Cytoskeleton. Cell cortex.

Tissue specificity. Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.

Disease relevance. Spinocerebellar ataxia 5 (SCA5) [MIM:600224] Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. The disease is caused by variants affecting the gene represented in this entry. Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14) [MIM:615386] A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the spectrin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O15020-1	1	yes
O15020-2	2

RefSeq proteins (2): NP_001397954, NP_008877* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001589	Actinin_actin-bd_CS	Conserved_site
IPR001605	PH_dom-spectrin-type	Domain
IPR001715	CH_dom	Domain
IPR001849	PH_domain	Domain
IPR002017	Spectrin_repeat	Repeat
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR016343	Spectrin_bsu	Family
IPR018159	Spectrin/alpha-actinin	Repeat
IPR036872	CH_dom_sf	Homologous_superfamily
IPR041681	PH_9	Domain

Pfam: PF00307, PF00435, PF15410

UniProt features (68 total): repeat 17, strand 12, modified residue 9, sequence variant 8, helix 6, turn 4, domain 3, region of interest 3, compositionally biased region 3, initiator methionine 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6ANU	ELECTRON MICROSCOPY	7
1WJM	SOLUTION NMR
1WYQ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15020-F1	76.91	0.08

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 (9): 2, 6, 31, 959, 1073, 2171, 2199, 2354, 2359

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-2132295	MHC class II antigen presentation
R-HSA-375165	NCAM signaling for neurite out-growth
R-HSA-445095	Interaction between L1 and Ankyrins
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-1266738	Developmental Biology
R-HSA-1280218	Adaptive Immune System
R-HSA-162582	Signal Transduction
R-HSA-168256	Immune System
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-373760	L1CAM interactions
R-HSA-392499	Metabolism of proteins
R-HSA-422475	Axon guidance
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5683057	MAPK family signaling cascades
R-HSA-5684996	MAPK1/MAPK3 signaling
R-HSA-597592	Post-translational protein modification
R-HSA-948021	Transport to the Golgi and subsequent modification
R-HSA-9675108	Nervous system development

MSigDB gene sets: 289 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_BEHAVIOR, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_SYNAPSE_ASSEMBLY, GOBP_ADULT_BEHAVIOR, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GOZGIT_ESR1_TARGETS_DN, GOBP_GROWTH, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION

GO Biological Process (10): synapse assembly (GO:0007416), vesicle-mediated transport (GO:0016192), cerebellar Purkinje cell layer morphogenesis (GO:0021692), actin cytoskeleton organization (GO:0030036), adult behavior (GO:0030534), multicellular organism growth (GO:0035264), actin filament capping (GO:0051693), regulation of postsynaptic specialization assembly (GO:0099150), cytoskeleton organization (GO:0007010), postsynapse organization (GO:0099173)

GO Molecular Function (9): actin binding (GO:0003779), structural constituent of cytoskeleton (GO:0005200), phospholipid binding (GO:0005543), cadherin binding (GO:0045296), actin filament binding (GO:0051015), structural constituent of synapse (GO:0098918), structural constituent of postsynapse (GO:0099186), protein binding (GO:0005515), cytoskeletal protein binding (GO:0008092)

GO Cellular Component (18): obsolete extracellular space (GO:0005615), cytosol (GO:0005829), plasma membrane (GO:0005886), spectrin (GO:0008091), apical plasma membrane (GO:0016324), cell junction (GO:0030054), cortical actin cytoskeleton (GO:0030864), paranodal junction (GO:0033010), cell projection (GO:0042995), neuronal cell body (GO:0043025), parallel fiber to Purkinje cell synapse (GO:0098688), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), postsynaptic spectrin-associated cytoskeleton (GO:0099189), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell cortex (GO:0005938), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Axon guidance	2
Adaptive Immune System	1
L1CAM interactions	1
MAPK1/MAPK3 signaling	1
ER to Golgi Anterograde Transport	1
Immune System	1
Membrane Trafficking	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Nervous system development	1
Post-translational protein modification	1
Signal Transduction	1
MAPK family signaling cascades	1
Metabolism of proteins	1
Asparagine N-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
synapse organization	3
synapse	3
cytoskeleton organization	2
structural molecule activity	2
postsynapse	2
cytoplasm	2
cell periphery	2
nervous system development	1
cell junction assembly	1
transport	1
cellular process	1
anatomical structure morphogenesis	1
cerebellar Purkinje cell layer development	1
cerebellar cortex morphogenesis	1
actin filament-based process	1
behavior	1
multicellular organismal process	1
developmental growth	1
negative regulation of actin filament depolymerization	1
negative regulation of actin filament polymerization	1
postsynaptic specialization assembly	1
regulation of organelle assembly	1
organelle organization	1
cellular component organization	1
cytoskeletal protein binding	1
cytoskeleton	1
lipid binding	1
cell adhesion molecule binding	1
actin binding	1
protein-containing complex binding	1
structural constituent of synapse	1
postsynapse organization	1
binding	1
protein binding	1
membrane	1
cortical actin cytoskeleton	1
protein-containing complex	1
apical part of cell	1
plasma membrane region	1

Protein interactions and networks

STRING

1410 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPTBN2	SLC1A6	P48664	949
SPTBN2	ATXN10	Q9UBB4	924
SPTBN2	ARHGEF11	O15085	890
SPTBN2	PLEKHG4	Q58EX7	878
SPTBN2	TTBK2	Q6IQ55	876
SPTBN2	ATXN7	O15265	827
SPTBN2	CACNA1A	P78510	823
SPTBN2	ZNF592	Q92610	818
SPTBN2	GRID2	O43424	726
SPTBN2	KCNC3	Q14003	726
SPTBN2	ATXN3	P54252	683
SPTBN2	ATXN1	P54253	670
SPTBN2	EPB41	P11171	664
SPTBN2	PRKCG	P05129	662
SPTBN2	ATXN2	Q99700	661

IntAct

92 interactions, top by confidence:

A	B	Type	Score
IKBKG	IKBKB	psi-mi:“MI:0914”(association)	0.980
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
OPG044	DDX3X	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
KIFAP3	KIF3C	psi-mi:“MI:0914”(association)	0.640
TUBB3	POTEF	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
ATAD2	SPTBN2	psi-mi:“MI:0915”(physical association)	0.400
Cdk1		psi-mi:“MI:0915”(physical association)	0.400
SPTBN2	ADRB2	psi-mi:“MI:0915”(physical association)	0.370
CELSR3	SPTBN2	psi-mi:“MI:0915”(physical association)	0.370
SPTBN2		psi-mi:“MI:0915”(physical association)	0.370
	SPTBN2	psi-mi:“MI:0915”(physical association)	0.370
SPTBN2	BKRF1	psi-mi:“MI:0915”(physical association)	0.370
Aurkb	SPTBN2	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO1C	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Bod1	SPTBN2	psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SYNPO	LMO7	psi-mi:“MI:0914”(association)	0.350
Myh9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myo1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myh9	GOSR1	psi-mi:“MI:0914”(association)	0.350
CAPZA2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (233): SPTBN2 (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS), SPTBN2 (Co-fractionation), SPTBN2 (Co-fractionation), SPTBN2 (Co-fractionation), SPTBN2 (Co-fractionation), SPTBN2 (Co-fractionation), SPTBN2 (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS), SPTBN2 (Affinity Capture-MS)

ESM2 similar proteins: A5D7D1, B0WYY2, L7UZ85, O01422, O13728, O15020, O43707, O88990, P05094, P11277, P12814, P15311, P15508, P18091, P20111, P26040, P31976, P31977, P32599, P35609, P46150, P57780, Q00963, Q01082, Q08043, Q0III9, Q13576, Q2PFV7, Q3B7N2, Q3UQ44, Q3ZC55, Q4QR29, Q5RCS6, Q62018, Q62261, Q6DEU9, Q6NXC0, Q6PD62, Q7PKQ5, Q7TPR4

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

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 99 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
Signaling by FLT3 fusion proteins	5	46.8×	1e-05
RAF activation	5	27.5×	5e-05
Signaling by high-kinase activity BRAF mutants	5	26.0×	6e-05
Signaling by FGFR1 in disease	5	24.0×	6e-05
MAP2K and MAPK activation	5	23.4×	7e-05
Signaling by RAF1 mutants	5	22.8×	7e-05
Signaling by moderate kinase activity BRAF mutants	5	20.8×	9e-05
Paradoxical activation of RAF signaling by kinase inactive BRAF	5	20.8×	9e-05

GO biological processes:

GO term	Partners	Fold	FDR
microtubule cytoskeleton organization	7	10.1×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1407 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	25
Likely pathogenic	28
Uncertain significance	665
Likely benign	352
Benign	64

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1027424	NM_006946.4(SPTBN2):c.157+1G>A	Pathogenic
1048078	NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys)	Pathogenic
1074233	NM_006946.4(SPTBN2):c.5352dup (p.Asp1785Ter)	Pathogenic
1323650	NM_006946.4(SPTBN2):c.1444C>T (p.Gln482Ter)	Pathogenic
1879205	NM_006946.4(SPTBN2):c.6722+1G>T	Pathogenic
1879208	NM_006946.4(SPTBN2):c.3301G>T (p.Glu1101Ter)	Pathogenic
208740	NM_006946.4(SPTBN2):c.1915G>T (p.Glu639Ter)	Pathogenic
2258160	NM_006946.4(SPTBN2):c.2250_2252del (p.Tyr750_Gln751delinsTer)	Pathogenic
2500212	NM_006946.4(SPTBN2):c.5581del (p.Asp1861fs)	Pathogenic
2642007	NM_006946.4(SPTBN2):c.158-1G>T	Pathogenic
2734018	NM_006946.4(SPTBN2):c.1121G>T (p.Ser374Ile)	Pathogenic
2810551	NM_006946.4(SPTBN2):c.4233C>A (p.Tyr1411Ter)	Pathogenic
2835724	NM_006946.4(SPTBN2):c.4801_4816del (p.Glu1601fs)	Pathogenic
3237165	NM_006946.4(SPTBN2):c.6304G>T (p.Glu2102Ter)	Pathogenic
3244770	NC_000011.9:g.(?66472049)(66473328_?)del	Pathogenic
3391810	NM_006946.4(SPTBN2):c.3436C>T (p.Arg1146Ter)	Pathogenic
3392612	NM_006946.4(SPTBN2):c.6034+1G>A	Pathogenic
4085932	NM_006946.4(SPTBN2):c.3867+1G>C	Pathogenic
448482	NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	Pathogenic
4811994	NM_006946.4(SPTBN2):c.5197C>T (p.Arg1733Ter)	Pathogenic
5274	NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)	Pathogenic
5275	NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)	Pathogenic
620423	NM_006946.4(SPTBN2):c.5515C>T (p.Gln1839Ter)	Pathogenic
64367	NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter)	Pathogenic
64369	NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs)	Pathogenic
1029115	NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)	Likely pathogenic
1029118	NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)	Likely pathogenic
1195160	NM_006946.4(SPTBN2):c.793G>C (p.Asp265His)	Likely pathogenic
1333225	NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)	Likely pathogenic
1485369	NM_006946.4(SPTBN2):c.5950-2A>C	Likely pathogenic

SpliceAI

5256 predictions. Top by Δscore:

Variant	Effect	Δscore
11:66687020:T:A	donor_gain	1.0000
11:66687421:CTGTA:C	donor_loss	1.0000
11:66687422:TGTAC:T	donor_loss	1.0000
11:66687423:GTACC:G	donor_loss	1.0000
11:66687424:TACCT:T	donor_loss	1.0000
11:66687426:C:CT	donor_loss	1.0000
11:66687643:GGTCC:G	acceptor_gain	1.0000
11:66687644:GTCC:G	acceptor_gain	1.0000
11:66687645:TCC:T	acceptor_gain	1.0000
11:66687646:CC:C	acceptor_gain	1.0000
11:66687646:CCC:C	acceptor_gain	1.0000
11:66687647:CC:C	acceptor_gain	1.0000
11:66687648:C:CC	acceptor_gain	1.0000
11:66687648:C:T	acceptor_gain	1.0000
11:66687648:CTGG:C	acceptor_loss	1.0000
11:66687860:GAACT:G	donor_loss	1.0000
11:66687861:AACT:A	donor_loss	1.0000
11:66687863:CTC:C	donor_loss	1.0000
11:66687864:TCA:T	donor_loss	1.0000
11:66687865:CA:C	donor_loss	1.0000
11:66687866:A:AC	donor_gain	1.0000
11:66687867:C:CC	donor_gain	1.0000
11:66688080:C:CC	acceptor_gain	1.0000
11:66688090:C:CT	acceptor_gain	1.0000
11:66688091:A:T	acceptor_gain	1.0000
11:66688860:C:CT	acceptor_gain	1.0000
11:66688861:G:T	acceptor_gain	1.0000
11:66689090:GCTCA:G	donor_loss	1.0000
11:66689091:CTCA:C	donor_loss	1.0000
11:66689092:TCA:T	donor_loss	1.0000

AlphaMissense

15544 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:66687465:C:A	K2228N	1.000
11:66687465:C:G	K2228N	1.000
11:66708265:C:G	R409P	1.000
11:66708278:C:G	A405P	1.000
11:66708286:A:G	L402P	1.000
11:66708294:C:A	W399C	1.000
11:66708294:C:G	W399C	1.000
11:66708296:A:G	W399R	1.000
11:66708296:A:T	W399R	1.000
11:66708983:G:C	F370L	1.000
11:66708983:G:T	F370L	1.000
11:66708984:A:G	F370S	1.000
11:66708985:A:G	F370L	1.000
11:66709007:T:A	K362N	1.000
11:66709007:T:G	K362N	1.000
11:66709016:A:C	F359L	1.000
11:66709016:A:T	F359L	1.000
11:66709018:A:G	F359L	1.000
11:66710705:A:G	L317P	1.000
11:66710973:A:C	Y277D	1.000
11:66713642:A:G	L254P	1.000
11:66713693:A:G	L237P	1.000
11:66714109:G:T	A213D	1.000
11:66714110:C:G	A213P	1.000
11:66714115:A:G	F211S	1.000
11:66714124:C:A	G208V	1.000
11:66714124:C:T	G208E	1.000
11:66714125:C:G	G208R	1.000
11:66714125:C:T	G208R	1.000
11:66714133:C:G	W205S	1.000

dbSNP variants (sampled 300 via entrez): RS1000022170 (11:66714846 G>T), RS1000153610 (11:66719698 G>A,T), RS1000162991 (11:66708120 C>A,T), RS1000230616 (11:66733847 A>G), RS1000246907 (11:66704147 T>C), RS1000256259 (11:66740453 C>T), RS1000290073 (11:66702062 T>C), RS1000366628 (11:66746253 G>C), RS1000383114 (11:66701865 T>A,C), RS1000457991 (11:66720536 C>A,T), RS1000482048 (11:66704303 G>A,T), RS1000557426 (11:66716126 G>A), RS1000672558 (11:66725881 T>C), RS1000673652 (11:66691153 C>T), RS1000757791 (11:66686157 C>T)

Disease associations

OMIM: gene MIM:604985 | disease phenotypes: MIM:600224, MIM:615386, MIM:303350

GenCC curated gene-disease

Disease	Classification	Inheritance
spinocerebellar ataxia type 5	Definitive	Autosomal dominant
autosomal recessive spinocerebellar ataxia 14	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
autosomal recessive spinocerebellar ataxia 14	Definitive	AR
spinocerebellar ataxia type 5	Definitive	AD

Mondo (6): spinocerebellar ataxia type 5 (MONDO:0010848), autosomal recessive spinocerebellar ataxia 14 (MONDO:0014159), hereditary spastic paraplegia (MONDO:0019064), cerebellar ataxia (MONDO:0000437), hereditary ataxia (MONDO:0100309), intellectual disability (MONDO:0001071)

Orphanet (6): Spinocerebellar ataxia type 5 (Orphanet:98766), Spectrin-associated autosomal recessive cerebellar ataxia (Orphanet:352403), Hereditary spastic paraplegia (Orphanet:685), Rare ataxia (Orphanet:102002), Hereditary ataxia (Orphanet:183518), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

45 total (30 of 45 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000317	Facial myokymia
HP:0000486	Strabismus
HP:0000571	Hypometric saccades
HP:0000639	Nystagmus
HP:0000640	Gaze-evoked nystagmus
HP:0000641	Dysmetric saccades
HP:0000651	Diplopia
HP:0000666	Horizontal nystagmus
HP:0000750	Delayed speech and language development
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001256	Mild intellectual disability
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001288	Gait disturbance
HP:0001310	Dysmetria
HP:0001321	Cerebellar hypoplasia
HP:0001347	Hyperreflexia
HP:0001350	Slurred speech
HP:0001583	Rotary nystagmus
HP:0002066	Gait ataxia
HP:0002070	Limb ataxia
HP:0002073	Progressive cerebellar ataxia
HP:0002075	Dysdiadochokinesis
HP:0002078	Truncal ataxia

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001241_12	Bipolar disorder	2.000000e-07
GCST004139_3	Bipolar disorder	1.000000e-07
GCST008103_30	Bipolar disorder	4.000000e-08
GCST012090_40	Major depressive disorder (MTAG)	2.000000e-08
GCST012227_667	Hip circumference adjusted for BMI	1.000000e-09
GCST90020028_1912	Hip circumference adjusted for BMI	7.000000e-27

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820
C531684	Hereditary spinal ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, decreases expression, decreases reaction, increases abundance	2
sodium arsenite	affects methylation, increases expression	2
(+)-JQ1 compound	decreases expression	2
Arsenic	affects methylation, increases methylation	2
Aflatoxin B1	increases methylation, decreases methylation	2
FR900359	decreases phosphorylation	1
ginger extract	decreases reaction, increases abundance, increases expression	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	decreases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	increases expression	1
Sunitinib	decreases expression	1
Cadmium	increases expression	1
Calcitriol	increases expression	1
Cisplatin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Furaldehyde	affects cotreatment, decreases expression, affects localization, increases expression	1
Ivermectin	increases expression	1
Methapyrilene	decreases methylation	1
Oils, Volatile	decreases reaction, increases abundance, increases expression	1
Sodium Chloride	affects cotreatment, decreases expression, affects localization, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_E7NR	KOLF2.1J SPTBN2 25.2kbdel DEL/DEL	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT04107740	PHASE4	COMPLETED	C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT01970098	PHASE3	COMPLETED	A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970111	PHASE3	COMPLETED	An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970124	PHASE3	COMPLETED	A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970137	PHASE3	COMPLETED	A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT02889302	PHASE3	COMPLETED	An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT03408080	PHASE3	ACTIVE_NOT_RECRUITING	Open Pilot Trial of BHV-4157
NCT03701399	PHASE3	ACTIVE_NOT_RECRUITING	Troriluzole in Adult Participants With Spinocerebellar Ataxia
NCT03901638	PHASE3	TERMINATED	Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy
NCT07040137	PHASE3	RECRUITING	Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT03961906	PHASE2	COMPLETED	Physiotherapy in Hereditary Spastic Paraplegia
NCT04768166	PHASE2	COMPLETED	Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
NCT00034242	PHASE2	COMPLETED	High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration
NCT00202397	PHASE2	COMPLETED	Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia
NCT00863538	PHASE2	COMPLETED	Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01004016	PHASE2	COMPLETED	A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01350440	PHASE2	COMPLETED	Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia
NCT02540655	PHASE2	COMPLETED	Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia
NCT03932669	PHASE2	COMPLETED	Effect of Nilotinib in Cerebellar Ataxia Patients
NCT04301284	PHASE2	WITHDRAWN	Study of CAD-1883 for Spinocerebellar Ataxia
NCT05125666	PHASE2	UNKNOWN	Efficacy of Dual Task Training on Children With Ataxia After Medulloblastoma Resection
NCT06397274	PHASE2	NOT_YET_RECRUITING	Stemchymal® for Polyglutamine Spinocerebellar Ataxia
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT06117020	PHASE1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT00683943	PHASE1	COMPLETED	Lithium Treatment for Patients With Spinocerebellar Ataxia Type I
NCT02287064	PHASE1	UNKNOWN	An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias
NCT05157802	PHASE1	ACTIVE_NOT_RECRUITING	Promoting Physical Activity Engagement for People With Early-stage Cerebellar Ataxia
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism