SOX5

Summary

SOX5 (SRY-box transcription factor 5, HGNC:11201) is a protein-coding gene on chromosome 12p12.1, encoding Transcription factor SOX-5 (P35711). Transcription factor involved in chondrocytes differentiation and cartilage formation. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

Source: NCBI Gene 6660 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Lamb-Shaffer syndrome (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 52
• Clinical variants (ClinVar): 357 total — 65 pathogenic, 31 likely-pathogenic
• Phenotypes (HPO): 69
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 19 downstream targets (CollecTRI)
• MANE Select transcript: NM_006940

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11201
Approved symbol	SOX5
Name	SRY-box transcription factor 5
Location	12p12.1
Locus type	gene with protein product
Status	Approved
Aliases	L-SOX5, MGC35153
Ensembl gene	ENSG00000134532
Ensembl biotype	protein_coding
OMIM	604975
Entrez	6660

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 15 protein_coding, 7 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000367206, ENST00000396007, ENST00000429944, ENST00000441133, ENST00000446891, ENST00000451604, ENST00000456299, ENST00000535530, ENST00000536629, ENST00000536729, ENST00000536850, ENST00000536911, ENST00000537393, ENST00000538083, ENST00000538905, ENST00000542241, ENST00000545921, ENST00000646273, ENST00000704296, ENST00000704297, ENST00000704298, ENST00000704299, ENST00000704300, ENST00000900854, ENST00000900855, ENST00000943211

RefSeq mRNA: 6 — MANE Select: NM_006940 NM_001261414, NM_001261415, NM_001330785, NM_006940, NM_152989, NM_178010

CCDS: CCDS41761, CCDS58216, CCDS58217, CCDS81672, CCDS8699

Canonical transcript exons

ENST00000451604 — 15 exons

Exon	Start	End
ENSE00000915575	23546316	23546424
ENSE00001098120	23536453	23536669
ENSE00001098123	23563258	23563403
ENSE00001098124	23740867	23741039
ENSE00001146270	23845983	23846193
ENSE00001195918	23575661	23575838
ENSE00001227745	23755638	23755724
ENSE00002222597	23529504	23534522
ENSE00003523803	23895793	23896024
ENSE00003621779	23949564	23949670
ENSE00003650947	23640812	23640897
ENSE00003654479	23604387	23604533
ENSE00003663308	23734684	23734752
ENSE00003667469	23543211	23543384
ENSE00003692924	23665444	23665564

Expression profiles

Bgee: expression breadth ubiquitous, 221 present calls, max score 98.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8897 / max 264.7647, expressed in 972 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130106	1.8784	626
130085	1.6001	300
130108	1.0384	522
130087	0.9242	287
130107	0.7309	335
130109	0.6782	376
130088	0.2617	120
130110	0.2572	131
130105	0.1741	83
130104	0.1510	72

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.41	gold quality
calcaneal tendon	UBERON:0003701	98.36	gold quality
synovial joint	UBERON:0002217	96.29	gold quality
sural nerve	UBERON:0015488	95.61	gold quality
tibia	UBERON:0000979	95.22	gold quality
ganglionic eminence	UBERON:0004023	93.93	gold quality
ventricular zone	UBERON:0003053	93.00	gold quality
cartilage tissue	UBERON:0002418	92.54	gold quality
tendon	UBERON:0000043	90.48	gold quality
left testis	UBERON:0004533	88.97	gold quality
right testis	UBERON:0004534	87.80	gold quality
testis	UBERON:0000473	87.38	gold quality
upper leg skin	UBERON:0004262	86.47	gold quality
colonic epithelium	UBERON:0000397	85.59	gold quality
corpus callosum	UBERON:0002336	84.21	gold quality
pigmented layer of retina	UBERON:0001782	83.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.89	gold quality
entorhinal cortex	UBERON:0002728	83.64	gold quality
medial globus pallidus	UBERON:0002477	83.41	gold quality
tendon of biceps brachii	UBERON:0008188	82.98	gold quality
skin of hip	UBERON:0001554	82.62	gold quality
endothelial cell	CL:0000115	81.48	gold quality
layer of synovial tissue	UBERON:0007616	81.47	gold quality
globus pallidus	UBERON:0001875	80.94	gold quality
liver	UBERON:0002107	80.88	gold quality
popliteal artery	UBERON:0002250	80.81	gold quality
tibial artery	UBERON:0007610	80.78	gold quality
postcentral gyrus	UBERON:0002581	80.61	gold quality
sperm	CL:0000019	80.45	silver quality
endometrium	UBERON:0001295	80.11	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-75140	yes	1753.96
E-CURD-119	yes	1588.61
E-HCAD-5	yes	632.48
E-MTAB-10485	yes	447.19
E-HCAD-35	yes	101.27
E-HCAD-25	yes	23.23
E-ANND-3	yes	7.56
E-GEOD-93593	yes	6.97
E-GEOD-131882	no	1819.63

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

19 targets.

Target	Regulation
ACAN	Activation
ADAM2
CATSPER1	Unknown
CDH1	Activation
CDH2	Activation
COL2A1	Activation
COMP	Activation
CYP19A1
DMRT1	Repression
FN1	Activation
MATN1	Unknown
NFKBIB	Activation
PTHLH	Activation
RUNX2	Activation
SPAG6	Unknown
SPARC	Unknown
ST6GAL2	Activation
TNFSF11	Activation
TWIST1	Unknown

Upstream regulators (CollecTRI, top): BARX2, KAT5, MKX, RUNX1, SNAI2, TCF7L2, WWTR1, YAP1

miRNA regulators (miRDB)

151 targeting SOX5, 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-6873-3P	100.00	71.42	2626
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• DAD-R, SOX5, and EKI1 map within region of chromosome 12p whose duplication is related to reduced apoptosis in human testicular seminomas. (PMID:11912161)
• SOX5 is aberrantly expressed in glioma (PMID:17230535)
• SOX5 is upregulated by promoter swapping with the P2RY8 gene in primary splenic follicular lymphoma (PMID:17554380)
• studies of SOX5 in cell lines, xenografts and human prostate specimens, at both the RNA and protein levels, found overexpression of the gene in tumors. This overexpression was then subsequently found by FISH to be caused by amplification of the region (PMID:19173284)
• Sox5 may suppress the oncogenic effects of PDGFB signaling during glioma development by regulating p27(Kip1) in a p19(Arf)-dependent manner, leading to acute cellular senescence. (PMID:19219070)
• SPAG6 is a S-SOX5 target gene, indicating a key role for S-SOX5 in the formation and function of motile cilia. (PMID:20668334)
• identified SOX5 and SOX6 as the first two SHOX-interacting proteins and have shown that this interaction regulates aggrecan expression, an essential factor in chondrogenesis and skeletal development. (PMID:21262861)
• Genetic variation in the transcription factor SOX5 is associated with COPD susceptibility (PMID:21330457)
• SOX trio gene and protein decreased with advancement of osteoarthritis in human articular cartilage. (PMID:21728837)
• Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features (PMID:22290657)
• MiR-194 regulates chondrogenic differentiation of adipose-derived stem cells by targeting Sox5 (PMID:22396742)
• L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA expression by strengthening dimeric Sox9 activity (PMID:22547066)
• Our findings indicate that haploinsufficiency of SOX5 is a cause of intellectual disability without any striking physical anomalies. (PMID:23220431)
• Two cases of 12p12.1 deletion involving SOX5 present with dysmorphic features and developmental delay. (PMID:23498568)
• Sox5 regulates the proliferation of malignant B cells. (PMID:24418753)
• depletion of Sox5 in breast cancer cells caused a dramatic decrease in Twist1 and chromosome immunoprecipitation assay showed that Sox5 can bind directly to the Twist1 promoter, suggesting that Sox5 transactivates Twist1 expression (PMID:24607904)
• detection of SOX5 polymorphism in nonobstructive azoospermia contributing to predicting males at high risk of disease in Han Chinese population (PMID:24648396)
• Identified two new splice variants of SOX5 in human B cells, encoding the known L-SOX5B isoform and a new shorter isoform L-SOX5F. SOX5 limits the proliferative capacity of human primary B lymphocytes and potentially affects the differentiation of human B cells during the germinal center responses. (PMID:24945754)
• These findings describe for the first time a functional role of SOX5 during late B cell development reducing the proliferative capacity and thus potentially affecting the differentiation of B cells. (PMID:24945754)
• Sox5 and Sox9 cause a significant increase in transactivation of the Catsper1 promoter. (PMID:25101494)
• Sox5-PAX5 fusion transcript is associated with B-cell precursor acute lymphoblastic leukemia. (PMID:25304615)
• High Sox5 expression is associated with pituitary tumor. (PMID:25305447)
• Our results indicate for the first time that SOX5 is a novel regulator of epithelial-mesenchymal transition in hepatocellular carcinoma (PMID:25572815)
• The results of the present study suggest a role for SOX5 in the molecular pathogenesis of FL. (PMID:26115875)
• SOX5 has a strong inhibitory effect on MITF expression and seems to have a decisive clinical impact on melanoma during tumor progression. (PMID:26927636)
• Results show that SOX5 expression levels is increased in the synovium of patients with rheumatoid arthritis (RA). Its overexpression regulates the expression of RANKL in RA synovial fibroblasts. (PMID:27550416)
• Short-SOX5 regulates transcription of human SPAG16L gene via directly binding to the promoter of SPAG16L. (PMID:28137312)
• Collectively, these findings indicate that SOX5 is a novel candidate gene for Alzheimer’s disease(AD) with an important role in neuronal function. The genetic findings warrant further studies to identify and characterize SOX5 variants that confer risk for AD, amyotrophic lateral sclerosis and intellectual disability. (PMID:28186563)
• SOX5 promoted epithelial-mesenchymal transition (EMT) by regulation of Snail. (PMID:28365963)
• results suggest that lnc-Sox5, which was stabilized by HuR, could regulate carcinogenesis of tongue cancer and may serve as a predicted target for tongue carcinoma therapies (PMID:28371600)
• Sox5 is a previously unrecognized regulator of beta-cell gene expression and secretory function (PMID:28585545)
• SOX5, candidate gene, associated with clinical features of Depression (e.g., earlier age at onset and recurrent and more severe forms of Depression). Gene expression patterns in the prefrontal and anterior cingulate cortex most closely matched the genetic findings. (PMID:28969442)
• Likely pathogenic variants were identified in SOX5 gene, not previously associated with epilepsy, and UBA5, a recently associated with epilepsy gene. (PMID:29286531)
• SOX5 overexpression increased Kruppel-like factor 4 (KLF4) gene expression, which was decreased by SOX5 silencing. KLF4 knockdown abrogated the suppressive effect of SOX5 overexpression on osteogenic differentiation of hMSCs. (PMID:29890823)
• First reported meta-analysis of genome-wide association study for chronic back pain (CBP) in adults of European ancestry identified novel genetic associations with CBP at SOX5, CCDC26/GSDMC, and DCC.[meta-analysis] (PMID:30261039)
• SOX5 is a direct target of miR-497-5P in the non-small-cell lung cancer cells. (PMID:30816573)
• The expression levels of lncRNA ILF3-AS1 was up-regulated in osteosarcoma tissues and cell lines, and was modulated by SP1. LncRNA ILF3-AS1 promoted osteosarcoma cells proliferation and metastasis via modulation of miR-212-SOX5 pathway. (PMID:30819403)
• Collectively, the rs2477686 in PEX10 , rs6080550 in SIRPA-SIRPG, and rs10842262 in SOX5 gene may indeed be the genetic risk factors for nonobstructive azoospermia (NOA), which requires further investigation using larger independent sets of samples in different ethnic populations. (PMID:30863997)
• CircDOCK1 affected the progression of BC via modulation of circDOCK1/hsa-miR-132-3p/Sox5 pathway. (PMID:30983072)
• The results revealed low expression of miR539 and high expression of SOX5 in gastric cancer tissues and cells as compared with the levels in normal tissues and cells, suggesting that there was a negative correlation between miR539 and SOX5. (PMID:31322222)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	sox5	ENSDARG00000011582
mus_musculus	Sox5	ENSMUSG00000041540
rattus_norvegicus	Sox5	ENSRNOG00000027869
drosophila_melanogaster	Sox14	FBGN0005612
drosophila_melanogaster	Sox21a	FBGN0036411
drosophila_melanogaster	Sox102F	FBGN0039938
caenorhabditis_elegans		WBGENE00001182

Paralogs (20): SOX8 (ENSG00000005513), SOX30 (ENSG00000039600), SOX10 (ENSG00000100146), SOX6 (ENSG00000110693), SOX4 (ENSG00000124766), SOX21 (ENSG00000125285), SOX9 (ENSG00000125398), SOX15 (ENSG00000129194), SOX3 (ENSG00000134595), SOX13 (ENSG00000143842), SOX17 (ENSG00000164736), SOX14 (ENSG00000168875), SOX7 (ENSG00000171056), SOX11 (ENSG00000176887), SOX12 (ENSG00000177732), CFAP65 (ENSG00000181378), SOX2 (ENSG00000181449), SOX1 (ENSG00000182968), SRY (ENSG00000184895), SOX18 (ENSG00000203883)

Protein

Protein identifiers

Transcription factor SOX-5 — P35711 (reviewed: P35711)

All UniProt accessions (12): A0A2R8Y5Q1, A0A2R8Y7P3, A0A994J4A9, A0A994J4I4, A0A994J6X9, A0A994J7C0, P35711, F5GWL1, F5H0I3, G3V0H1, I3L0A5, T2CZM2

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5’-AACAAT-3’ DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9’s ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX6, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene.

Subunit / interactions. Forms homodimers and heterodimers with SOX6.

Subcellular location. Nucleus.

Disease relevance. Lamb-Shaffer syndrome (LAMSHF) [MIM:616803] An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (5)

UniProt ID	Names	Canonical?
P35711-1	1, L-SOX5A	yes
P35711-2	2, L-SOX5B
P35711-3	3
P35711-4	4
P35711-5	5

RefSeq proteins (6): NP_001248343, NP_001248344, NP_001317714, NP_008871, NP_694534, NP_821078 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009071	HMG_box_dom	Domain
IPR036910	HMG_box_dom_sf	Homologous_superfamily
IPR051356	SOX/SOX-like_TF	Family

Pfam: PF00505

UniProt features (33 total): modified residue 7, compositionally biased region 6, sequence conflict 6, splice variant 5, region of interest 4, coiled-coil region 2, chain 1, DNA-binding region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35711-F1	58.95	0.21

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 (7): 21, 131, 370, 372, 411, 414, 439

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 505 (showing top): FXR_IR1_Q6, CREL_01, MYAATNNNNNNNGGC_UNKNOWN, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, TGCACTT_MIR519C_MIR519B_MIR519A, LFA1_Q6, GCANCTGNY_MYOD_Q6, KORKOLA_CHORIOCARCINOMA_DN, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, GOBP_NEUROGENESIS, DARWICHE_PAPILLOMA_RISK_HIGH_DN, RACCACAR_AML_Q6

GO Biological Process (12): cartilage condensation (GO:0001502), chondrocyte differentiation (GO:0002062), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), positive regulation of chondrocyte differentiation (GO:0032332), cell fate commitment (GO:0045165), cartilage development (GO:0051216), asymmetric neuroblast division (GO:0055059), positive regulation of cartilage development (GO:0061036), cellular response to transforming growth factor beta stimulus (GO:0071560), positive regulation of mesenchymal stem cell differentiation (GO:2000741), cell differentiation (GO:0030154)

GO Molecular Function (7): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cartilage development	3
cell differentiation	2
regulation of DNA-templated transcription	2
cellular developmental process	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription cis-regulatory region binding	2
skeletal system morphogenesis	1
cell aggregation	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
chondrocyte differentiation	1
regulation of chondrocyte differentiation	1
positive regulation of cell differentiation	1
positive regulation of cartilage development	1
skeletal system development	1
animal organ development	1
connective tissue development	1
asymmetric cell division	1
cell fate commitment	1
neuroblast division	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
regulation of cartilage development	1
cellular response to growth factor stimulus	1
response to transforming growth factor beta	1
mesenchymal stem cell differentiation	1
positive regulation of stem cell differentiation	1
regulation of mesenchymal stem cell differentiation	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transcription regulator activity	1
nucleic acid binding	1
binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2034 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOX5	SOX6	P35712	941
SOX5	SOX9	P48436	901
SOX5	ETNK1	Q9HBU6	859
SOX5	CTNNB1	P35222	851
SOX5	COL2A1	P02458	845
SOX5	TCF7	P36402	783
SOX5	FEZF2	Q8TBJ5	758
SOX5	ACAN	P16112	715
SOX5	SP7	Q8TDD2	704
SOX5	SATB2	Q9UPW6	695
SOX5	DMRT1	Q9Y5R6	626
SOX5	COL10A1	Q03692	613
SOX5	TBR1	Q16650	612
SOX5	NEUROG2	Q9H2A3	607
SOX5	DLX5	P56178	603

IntAct

84 interactions, top by confidence:

A	B	Type	Score
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
CRX	SOX5	psi-mi:“MI:0915”(physical association)	0.670
SOX5	CRX	psi-mi:“MI:0915”(physical association)	0.670
SOX5	TLE5	psi-mi:“MI:0915”(physical association)	0.660
LMO2	SOX5	psi-mi:“MI:0915”(physical association)	0.560
SOX5	LMO1	psi-mi:“MI:0915”(physical association)	0.560
SUMO1P1	SOX5	psi-mi:“MI:0915”(physical association)	0.560
SOX5	KIFC3	psi-mi:“MI:0915”(physical association)	0.560
SOX5	PRR20C	psi-mi:“MI:0915”(physical association)	0.560
MORN3	SOX5	psi-mi:“MI:0915”(physical association)	0.560
KAT5	SOX5	psi-mi:“MI:0915”(physical association)	0.560
TENT5B	SOX5	psi-mi:“MI:0915”(physical association)	0.560
CBX8	SOX5	psi-mi:“MI:0915”(physical association)	0.560
SOX5	ZNF581	psi-mi:“MI:0915”(physical association)	0.560
SOX5	CDC23	psi-mi:“MI:0915”(physical association)	0.560
LMO1	SOX5	psi-mi:“MI:0915”(physical association)	0.560
SOX5	SUMO1P1	psi-mi:“MI:0915”(physical association)	0.560
SOX5	MORN3	psi-mi:“MI:0915”(physical association)	0.560
SOX5	KAT5	psi-mi:“MI:0915”(physical association)	0.560
SOX5	TENT5B	psi-mi:“MI:0915”(physical association)	0.560
SOX5	CBX8	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (192): TAF6 (Affinity Capture-MS), SOX5 (Two-hybrid), SOX5 (Two-hybrid), SOX5 (Two-hybrid), SOX5 (Two-hybrid), SOX5 (Two-hybrid), SOX5 (Two-hybrid), CDC23 (Two-hybrid), KAT5 (Two-hybrid), ARID5A (Two-hybrid), ZNF581 (Two-hybrid), CBX8 (Two-hybrid), FAM46B (Two-hybrid), PRR20A (Two-hybrid), MORN3 (Two-hybrid)

ESM2 similar proteins: A0A0G2JTZ2, A2BEA6, A4IFD2, B1H349, B3DM43, B3DM47, F1M8W4, O15409, O75030, P0CF24, P23899, P27889, P35680, P35710, P35711, P35712, P40645, P40647, P58463, P70062, P70063, P70064, Q23045, Q2LE08, Q4VYR7, Q4VYS1, Q58NQ4, Q5QL03, Q5RCU4, Q5RER5, Q5W1J5, Q6GL68, Q800Q5, Q86MD3, Q8HZ00, Q8MJ97, Q8MJ98, Q8MJ99, Q8MJA0, Q8STF6

Diamond homologs: A0A0G2JTZ2, A2TED3, A5D8R3, B1H349, B3DLD3, B3DM43, F1M8W4, O42342, O42601, P0C1G9, P35710, P35711, P35712, P35713, P35716, P36389, P36390, P36393, P36394, P36396, P40645, P40646, P40647, P40649, P40650, P40656, P40657, P43680, P47792, P48433, P48435, Q03255, Q03257, Q04891, Q05738, Q06831, Q06945, Q20201, Q23045, Q27949

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SOX5	“up-regulates quantity by expression”	COL2A1	“transcriptional regulation”
MKX	“up-regulates quantity by expression”	SOX5	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 52 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
gene expression	5	8.2×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	65
Likely pathogenic	31
Uncertain significance	178
Likely benign	43
Benign	6

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1098341	NM_006940.6(SOX5):c.352C>T (p.Arg118Ter)	Pathogenic
1172669	NM_006940.6(SOX5):c.755dup (p.Gln253fs)	Pathogenic
1195659	NM_006940.6(SOX5):c.932-1G>C	Pathogenic
1297543	NM_006940.6(SOX5):c.1639C>T (p.Arg547Ter)	Pathogenic
1300230	NM_006940.6(SOX5):c.433dup (p.Thr145fs)	Pathogenic
1340410	GRCh37/hg19 12p12.1(chr12:23537708-23757164)x1	Pathogenic
1341190	GRCh37/hg19 12p12.1(chr12:23656814-23741624)x1	Pathogenic
1421590	NM_006940.6(SOX5):c.811-2A>G	Pathogenic
1526379	NM_006940.6(SOX5):c.1748A>G (p.Asn583Ser)	Pathogenic
1527696	GRCh37/hg19 12p12.1(chr12:23594653-23814395)	Pathogenic
1527935	NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter)	Pathogenic
1686224	NM_006940.6(SOX5):c.1489-2A>G	Pathogenic
1700126	NM_006940.4:c.482_810del	Pathogenic
1709432	NM_006940.6(SOX5):c.1136del (p.Ser379fs)	Pathogenic
1879227	NM_006940.6(SOX5):c.1697G>A (p.Trp566Ter)	Pathogenic
222022	NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)	Pathogenic
2442685	NM_006940.6(SOX5):c.359del (p.Ser120fs)	Pathogenic
2501978	NM_006940.6(SOX5):c.1676C>T (p.Pro559Leu)	Pathogenic
2574979	NM_006940.6(SOX5):c.1337_1338dup (p.Ile447fs)	Pathogenic
2642785	NM_006940.6(SOX5):c.700C>T (p.Gln234Ter)	Pathogenic
2685435	GRCh37/hg19 12p12.1(chr12:23594097-23768820)x1	Pathogenic
2775436	NM_006940.6(SOX5):c.1862del (p.Pro621fs)	Pathogenic
3337464	NM_006940.6:c.741+1981_931+5178del	Pathogenic
3377222	NM_006940.6(SOX5):c.554_555del (p.Phe185fs)	Pathogenic
3378162	NM_006940.6(SOX5):c.1342+1G>T	Pathogenic
3382063	NM_006940.6(SOX5):c.1423C>T (p.Gln475Ter)	Pathogenic
3383983	NM_006940.6(SOX5):c.1598-1G>A	Pathogenic
3391917	GRCh37/hg19 12p12.1(chr12:23624334-23720028)x1	Pathogenic
3574544	NM_006940.6(SOX5):c.785_786insTTAT (p.Asn263fs)	Pathogenic
3895970	NC_000012.11:g.(23908659_23998916)(24102605?)del	Pathogenic

SpliceAI

3937 predictions. Top by Δscore:

Variant	Effect	Δscore
12:23534258:C:CA	donor_gain	1.0000
12:23536450:TA:T	donor_loss	1.0000
12:23536451:A:AC	donor_gain	1.0000
12:23536451:AC:A	donor_gain	1.0000
12:23536452:C:CA	donor_gain	1.0000
12:23536452:CC:C	donor_gain	1.0000
12:23536452:CCCA:C	donor_gain	1.0000
12:23536452:CCCAA:C	donor_gain	1.0000
12:23536666:GATC:G	acceptor_gain	1.0000
12:23536668:TC:T	acceptor_gain	1.0000
12:23536669:CC:C	acceptor_gain	1.0000
12:23536669:CCTAT:C	acceptor_loss	1.0000
12:23536670:C:CC	acceptor_gain	1.0000
12:23543207:TTA:T	donor_loss	1.0000
12:23543210:C:A	donor_loss	1.0000
12:23543381:CTTC:C	acceptor_gain	1.0000
12:23563253:CTGA:C	donor_loss	1.0000
12:23563254:TGA:T	donor_loss	1.0000
12:23563255:GACCT:G	donor_loss	1.0000
12:23563256:A:C	donor_loss	1.0000
12:23563257:C:CA	donor_loss	1.0000
12:23594107:TTGTA:T	donor_gain	1.0000
12:23640807:CTTA:C	donor_loss	1.0000
12:23640808:TTACC:T	donor_loss	1.0000
12:23640809:TA:T	donor_loss	1.0000
12:23640810:ACC:A	donor_loss	1.0000
12:23640811:CCT:C	donor_loss	1.0000
12:23640895:CAC:C	acceptor_gain	1.0000
12:23640898:C:CC	acceptor_gain	1.0000
12:23640898:CT:C	acceptor_loss	1.0000

AlphaMissense

5029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:23536492:C:G	R650P	1.000
12:23536495:A:T	M649K	1.000
12:23536502:C:G	A647P	1.000
12:23536503:C:A	K646N	1.000
12:23536503:C:G	K646N	1.000
12:23536504:T:A	K646M	1.000
12:23536505:T:C	K646E	1.000
12:23536507:T:C	Y645C	1.000
12:23536507:T:G	Y645S	1.000
12:23536508:A:C	Y645D	1.000
12:23536508:A:G	Y645H	1.000
12:23536508:A:T	Y645N	1.000
12:23536510:T:A	E644V	1.000
12:23536516:A:C	I642S	1.000
12:23536516:A:T	I642N	1.000
12:23536520:G:T	R641S	1.000
12:23536522:A:G	L640P	1.000
12:23536524:C:A	K639N	1.000
12:23536524:C:G	K639N	1.000
12:23536526:T:C	K639E	1.000
12:23536531:C:A	G637V	1.000
12:23536532:C:G	G637R	1.000
12:23536542:G:C	C633W	1.000
12:23536543:C:G	C633S	1.000
12:23536543:C:T	C633Y	1.000
12:23536544:A:G	C633R	1.000
12:23536544:A:T	C633S	1.000
12:23536549:C:G	R631P	1.000
12:23536550:G:A	R631C	1.000
12:23536550:G:C	R631G	1.000

dbSNP variants (sampled 300 via entrez): RS1000000723 (12:23852264 A>G), RS1000004060 (12:23968833 A>G), RS1000004735 (12:23848988 C>T), RS1000010432 (12:23581578 A>G), RS1000013036 (12:23610208 A>G), RS1000013979 (12:24503728 A>G), RS1000014609 (12:23623881 A>G), RS1000019209 (12:23992054 A>G), RS1000023348 (12:24290074 T>C), RS1000023632 (12:24423457 T>G), RS1000031040 (12:24544827 A>G), RS1000033898 (12:23826895 C>T), RS1000036300 (12:24534339 T>C), RS1000039633 (12:24159912 G>A), RS1000040949 (12:23761485 G>A)

Disease associations

OMIM: gene MIM:604975 | disease phenotypes: MIM:616803, MIM:610805, MIM:137580

GenCC curated gene-disease

Disease	Classification	Inheritance
Lamb-Shaffer syndrome	Strong	Autosomal dominant
developmental and speech delay due to SOX5 deficiency	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Lamb-Shaffer syndrome	Definitive	AD

Mondo (7): Lamb-Shaffer syndrome (MONDO:0014778), autism spectrum disorder (MONDO:0005258), strabismus (MONDO:0003432), congenital anomaly of kidney and urinary tract (MONDO:0019719), intellectual disability (MONDO:0001071), Tourette syndrome (MONDO:0007661), developmental and speech delay due to SOX5 deficiency (MONDO:0017782)

Orphanet (7): 12p12.1 microdeletion syndrome (Orphanet:313884), Developmental and speech delay due to SOX5 deficiency (Orphanet:313892), Lamb-Shaffer syndrome (Orphanet:530983), Renal or urinary tract malformation (Orphanet:93545), NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Tourette syndrome (Orphanet:856)

HPO phenotypes

69 total (30 of 69 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000078	Abnormality of the genital system
HP:0000189	Narrow palate
HP:0000194	Open mouth
HP:0000238	Hydrocephalus
HP:0000286	Epicanthus
HP:0000324	Facial asymmetry
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000414	Bulbous nose
HP:0000431	Wide nasal bridge
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000545	Myopia
HP:0000577	Exotropia
HP:0000648	Optic atrophy
HP:0000678	Dental crowding
HP:0000708	Atypical behavior
HP:0000718	Aggressive behavior
HP:0000733	Motor stereotypy
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0000768	Pectus carinatum
HP:0000958	Dry skin
HP:0000970	Anhidrosis
HP:0000989	Pruritus
HP:0000998	Hypertrichosis
HP:0001000	Abnormality of skin pigmentation
HP:0001053	Hypopigmented skin patches

GWAS associations

52 associations (top):

Study	Trait	p-value
GCST000487_3	AIDS	2.000000e-06
GCST000562_6	PR interval	3.000000e-13
GCST000618_3	Response to antipsychotic treatment	1.000000e-07
GCST000635_33	Response to statin therapy	2.000000e-06
GCST001156_5	Systemic sclerosis	1.000000e-07
GCST001160_4	Systemic sclerosis	5.000000e-06
GCST001362_3	Non-obstructive azoospermia	2.000000e-09
GCST002783_414	Body mass index	6.000000e-06
GCST002989_19	LDL peak particle diameter (total fat intake interaction)	8.000000e-06
GCST003030_5	Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder	7.000000e-06
GCST003138_3	Juvenile osteochondritis dissecans	3.000000e-06
GCST003225_9	Pelvic organ prolapse (moderate/severe)	6.000000e-06
GCST003602_10	Inflammatory bowel disease	3.000000e-06
GCST003817_10	Mortality in sepsis	3.000000e-06
GCST003818_69	Resting heart rate	3.000000e-53
GCST005080_9	PR interval	9.000000e-15
GCST005787_23	Heart rate response to exercise	2.000000e-14
GCST005788_17	Heart rate response to recovery post exercise	2.000000e-11
GCST005789_20	Resting heart rate	7.000000e-18
GCST005839_33	Depression	3.000000e-08
GCST005984_57	Glomerular filtration rate	7.000000e-09
GCST005985_37	Creatinine levels	6.000000e-09
GCST006624_79	Systolic blood pressure	7.000000e-10
GCST006803_35	Schizophrenia	1.000000e-08
GCST006979_891	Heel bone mineral density	1.000000e-10
GCST007045_8	PR interval	2.000000e-41
GCST007152_1	Chronic back pain	5.000000e-19
GCST007448_14	Normal facial asymmetry (angle of surface orientation score)	1.000000e-13
GCST007448_3	Normal facial asymmetry (angle of surface orientation score)	1.000000e-12
GCST007576_244	Chronotype	7.000000e-11

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0004462	PR interval
EFO:0004340	body mass index
EFO:0007677	LDL peak particle diameter measurement
EFO:0007678	total fat intake measurement
EFO:0007679	oppositional defiant disorder measurement
EFO:0004352	mortality
EFO:0009184	heart rate response to exercise
EFO:0009185	heart rate response to recovery post exercise
EFO:0006335	systolic blood pressure
EFO:0009270	heel bone mineral density
EFO:0009751	facial asymmetry measurement
EFO:0008328	chronotype measurement
EFO:0008398	T wave morphology measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0010100	multisite chronic pain
EFO:0004980	appendicular lean mass
EFO:0009749	age at first sexual intercourse measurement
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D013285	Strabismus	C10.292.562.887; C11.590.810
D005879	Tourette Syndrome	C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850
C566906	Cakut (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	5
bisphenol A	affects expression, affects methylation, affects cotreatment, increases methylation	3
arsenite	affects binding, decreases reaction, increases methylation	2
entinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
Aflatoxin B1	decreases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
deoxynivalenol	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
chromium hexavalent ion	decreases expression, increases abundance	1
deguelin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
bisphenol S	increases methylation	1
tianma gouteng yin	increases expression	1
Fulvestrant	affects cotreatment, affects methylation	1
Leflunomide	increases expression	1
Caffeine	affects phosphorylation	1
Diethylhexyl Phthalate	decreases expression	1

Cellosaurus cell lines

5 cell lines: 3 embryonic stem cell, 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A6M9	SEES3-1V human SOX5, clone1	Embryonic stem cell	Male
CVCL_A6N0	SEES3-1V human SOX5, clone2	Embryonic stem cell	Male
CVCL_A6N1	SEES3-1V human SOX5, clone3	Embryonic stem cell	Male
CVCL_TQ02	HAP1 SOX5 (-) 1	Cancer cell line	Male
CVCL_TQ03	HAP1 SOX5 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder