ADGB

Summary

ADGB (androglobin, HGNC:21212) is a protein-coding gene on chromosome 6q24.3, encoding Androglobin (Q8N7X0). Probable chimeric globin with a bis-histidyl six-coordinate heme-iron atom through which it could bind dioxygen, carbon monoxide and nitric oxide.

Predicted to enable several functions, including calcium-dependent cysteine-type endopeptidase activity; heme binding activity; and oxygen binding activity. Predicted to be involved in spermatid development. Predicted to be located in sperm flagellum. Predicted to be active in sperm annulus and sperm midpiece.

Source: NCBI Gene 79747 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 280 total — 5 pathogenic
• MANE Select transcript: NM_024694

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21212
Approved symbol	ADGB
Name	androglobin
Location	6q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23121, dJ408K24.1, CAPN16
Ensembl gene	ENSG00000118492
Ensembl biotype	protein_coding
OMIM	614630
Entrez	79747

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000326916, ENST00000326929, ENST00000367490, ENST00000397944, ENST00000470716, ENST00000473647, ENST00000480328, ENST00000493950, ENST00000522242, ENST00000522396, ENST00000523560, ENST00000681847, ENST00000707164

RefSeq mRNA: 1 — MANE Select: NM_024694 NM_024694

Canonical transcript exons

ENST00000397944 — 36 exons

Exon	Start	End
ENSE00002137727	146598972	146599114
ENSE00002226168	146724186	146724327
ENSE00002245065	146726083	146726197
ENSE00003464503	146784618	146784794
ENSE00003472436	146752530	146752714
ENSE00003474729	146769020	146769131
ENSE00003480696	146644773	146644865
ENSE00003482720	146733893	146734030
ENSE00003483109	146788389	146788610
ENSE00003502193	146692825	146692915
ENSE00003508161	146654135	146654206
ENSE00003508499	146676313	146676441
ENSE00003513753	146672220	146672467
ENSE00003518555	146685734	146685828
ENSE00003528088	146700941	146701070
ENSE00003530225	146666816	146666902
ENSE00003538073	146763901	146764100
ENSE00003542729	146664201	146664340
ENSE00003567739	146740459	146740593
ENSE00003572418	146691116	146691290
ENSE00003582411	146785610	146785712
ENSE00003583912	146782020	146782192
ENSE00003587092	146715382	146715415
ENSE00003587424	146733120	146733255
ENSE00003593996	146801828	146802011
ENSE00003601657	146656771	146656980
ENSE00003616281	146728574	146728741
ENSE00003620251	146635375	146635537
ENSE00003626340	146717536	146717599
ENSE00003635021	146801183	146801279
ENSE00003649560	146741118	146741271
ENSE00003650673	146721403	146721505
ENSE00003664495	146716883	146717069
ENSE00003671725	146815032	146815462
ENSE00003679280	146745922	146746109
ENSE00003680903	146736498	146736591

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 95.10.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3466 / max 86.7638, expressed in 72 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
70368	0.2293	58
70367	0.0960	41
70370	0.0184	5
204235	0.0030	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.10	gold quality
bronchial epithelial cell	CL:0002328	92.38	gold quality
epithelium of bronchus	UBERON:0002031	90.73	gold quality
bronchus	UBERON:0002185	89.17	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.81	gold quality
left testis	UBERON:0004533	86.40	gold quality
sperm	CL:0000019	85.78	gold quality
right testis	UBERON:0004534	85.26	gold quality
testis	UBERON:0000473	83.80	gold quality
male germ cell	CL:0000015	83.77	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.85	gold quality
epithelium of nasopharynx	UBERON:0001951	74.27	gold quality
nasal cavity epithelium	UBERON:0005384	70.93	gold quality
right lung	UBERON:0002167	70.14	gold quality
fallopian tube	UBERON:0003889	67.95	gold quality
nasal cavity mucosa	UBERON:0001826	67.91	gold quality
oviduct epithelium	UBERON:0004804	63.25	gold quality
left uterine tube	UBERON:0001303	61.67	gold quality
choroid plexus epithelium	UBERON:0003911	60.98	gold quality
caput epididymis	UBERON:0004358	60.22	gold quality
rectum	UBERON:0001052	57.61	gold quality
mucosa of transverse colon	UBERON:0004991	54.88	gold quality
hypothalamus	UBERON:0001898	54.44	gold quality
lung	UBERON:0002048	53.64	gold quality
adult organism	UBERON:0007023	53.27	gold quality
corpus callosum	UBERON:0002336	53.26	gold quality
granulocyte	CL:0000094	52.96	gold quality
endocervix	UBERON:0000458	51.70	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.46
E-MTAB-9388	yes	7.06
E-MTAB-7303	no	14.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting ADGB, 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-4692	100.00	67.32	2066
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-5694	97.06	67.70	682
HSA-MIR-4661-5P	93.34	67.13	400

Literature-anchored findings (GeneRIF, showing 4)

• Molecular evolutionary analyses indicate that this chimeric globin family is phylogenetically ancient and originated in the common ancestor to animals and choanoflagellates. In humans and mice, the gene is predominantly expressed in testis tissue. (PMID:22115833)
• Suggest ADGB is involved in the progression of glioma in vitro. (PMID:24966926)
• Androglobin gene expression patterns and FOXJ1-dependent regulation indicate its functional association with ciliogenesis. (PMID:33453283)
• ADGB variants cause asthenozoospermia and male infertility. (PMID:36995441)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	adgb	ENSDARG00000005595
mus_musculus	Adgb	ENSMUSG00000050994
rattus_norvegicus	Adgb	ENSRNOG00000042741
caenorhabditis_elegans		WBGENE00000542
caenorhabditis_elegans	clp-3	WBGENE00000544
caenorhabditis_elegans		WBGENE00000546
caenorhabditis_elegans		WBGENE00000547
caenorhabditis_elegans	clp-8	WBGENE00009695
caenorhabditis_elegans	clpr-3	WBGENE00010417
caenorhabditis_elegans	clpr-1	WBGENE00012233
caenorhabditis_elegans	clpr-3	WBGENE00013184

Paralogs (20): CAPN1 (ENSG00000014216), SRI (ENSG00000075142), CAPN6 (ENSG00000077274), CAPN3 (ENSG00000092529), CAPN15 (ENSG00000103326), GCA (ENSG00000115271), CAPNS1 (ENSG00000126247), CAPN7 (ENSG00000131375), CAPN9 (ENSG00000135773), CAPN11 (ENSG00000137225), CAPN10 (ENSG00000142330), CAPN5 (ENSG00000149260), PEF1 (ENSG00000162517), CAPN2 (ENSG00000162909), CAPN13 (ENSG00000162949), CAPN12 (ENSG00000182472), CAPN8 (ENSG00000203697), CAPN14 (ENSG00000214711), PDCD6 (ENSG00000249915), CAPNS2 (ENSG00000256812)

Protein

Protein identifiers

Androglobin — Q8N7X0 (reviewed: Q8N7X0)

All UniProt accessions (11): A0A7P0T963, A0AA34QVR3, Q8N7X0, E5RFN4, E5RG76, E5RGD1, E5RIM8, F8W7W4, H0Y334, H0YBE5, H0YC38

UniProt curated annotations — full annotation on UniProt →

Function. Probable chimeric globin with a bis-histidyl six-coordinate heme-iron atom through which it could bind dioxygen, carbon monoxide and nitric oxide. Required for sperm flagellum formation and maturation of elongating spermatids, thus playing an essential role in male fertility.

Subunit / interactions. Interacts with septin SEPT10; contributes to in vitro proteolytic cleavage of SEPT10 in a calmodulin-dependent manner. Interacts with CFAP69. Interacts with SPEF2. May interact with calmodulin.

Subcellular location. Cell projection. Cilium. Flagellum.

Disease relevance. Defects in ADGB may be the cause of asthenozoospermia, a condition in which the percentage of progressively motile sperm is abnormally low.

Domain organisation. The globin domain is circularly permuted. The globin domain, which normally consists of eight consecutive alpha-helices from A (N-terminal) to H (C-terminal), is circularly permutated and split into two parts. The part containing helices A and B is shifted C-terminally and is separated from the main globin sequence (helices C-H) by a potential calmodulin-binding IQ domain.

Similarity. In the central section; belongs to the globin family. In the N-terminal section; belongs to the peptidase C2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N7X0-1	1	yes
Q8N7X0-2	2

RefSeq proteins (1): NP_078970* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001300	Peptidase_C2_calpain_cat	Domain
IPR012292	Globin/Proto	Homologous_superfamily
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR053033	Androglobin-like	Family
IPR054093	Androglobin_II	Domain
IPR054094	Androglobin_IV	Domain
IPR054095	Androglobin_V	Domain
IPR057249	Globin_CP_ADGB	Domain

Pfam: PF00648, PF22068, PF22069, PF22070

UniProt features (37 total): compositionally biased region 10, sequence conflict 8, region of interest 6, domain 4, sequence variant 3, binding site 2, splice variant 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7X0-F1	67.79	0.25

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 792 (distal binding residue); 824 (proximal binding residue)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 68 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_MALE_GAMETE_GENERATION, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOMF_OXYGEN_BINDING, GOCC_MOTILE_CILIUM, GOCC_SPERM_MIDPIECE, GOBP_PROTEOLYSIS, GOCC_CILIUM, MULLIGHAN_MLL_SIGNATURE_1_UP, GOMF_PEPTIDASE_ACTIVITY, GOMF_TETRAPYRROLE_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN

GO Biological Process (4): proteolysis (GO:0006508), spermatid development (GO:0007286), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (4): calcium-dependent cysteine-type endopeptidase activity (GO:0004198), oxygen binding (GO:0019825), heme binding (GO:0020037), metal ion binding (GO:0046872)

GO Cellular Component (6): sperm midpiece (GO:0097225), sperm annulus (GO:0097227), cilium (GO:0005929), motile cilium (GO:0031514), sperm flagellum (GO:0036126), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
sperm flagellum	2
protein metabolic process	1
germ cell development	1
spermatid differentiation	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
cysteine-type endopeptidase activity	1
small molecule binding	1
tetrapyrrole binding	1
cation binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1
9+2 motile cilium	1

Protein interactions and networks

STRING

1017 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADGB	NGB	Q9NPG2	846
ADGB	CYGB	Q8WWM9	735
ADGB	MB	P02144	716
ADGB	GBE1	Q04446	529
ADGB	CCDC149	Q6ZUS6	521
ADGB	DRC11	Q86XH1	480
ADGB	OR9A2	Q8NGT5	476
ADGB	SAMD5	Q5TGI4	470
ADGB	WBP2NL	Q6ICG8	447
ADGB	NAALAD2	Q9Y3Q0	441
ADGB	UROS	P10746	439
ADGB	TEX38	Q6PEX7	432
ADGB	SLC36A1	Q7Z2H8	428
ADGB	ULK4	Q96C45	427
ADGB	ALAD	P13716	427

IntAct

8 interactions, top by confidence:

A	B	Type	Score
ADGB	H1-1	psi-mi:“MI:0915”(physical association)	0.400
ADGB	H1-5	psi-mi:“MI:0915”(physical association)	0.400
ADGB	H2AC4	psi-mi:“MI:0915”(physical association)	0.400
ADGB	H3C13	psi-mi:“MI:0915”(physical association)	0.400
ADGB	IK	psi-mi:“MI:0915”(physical association)	0.400
DND1	RPSA2	psi-mi:“MI:0914”(association)	0.350
BMI1	MEIS3P1	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): ADGB (Proximity Label-MS), ADGB (Proximity Label-MS), ADGB (Proximity Label-MS), ADGB (Proximity Label-MS), ADGB (Proximity Label-MS), ADGB (Affinity Capture-MS), ADGB (Proximity Label-MS), NPM1 (Cross-Linking-MS (XL-MS)), STIP1 (Cross-Linking-MS (XL-MS)), ADGB (Cross-Linking-MS (XL-MS)), SFPQ (Cross-Linking-MS (XL-MS)), ADGB (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A1A5R8, A9ZLX4, D3YXJ0, E9PUQ8, G3UZ78, O00750, O15164, O54828, P30052, P40818, P48984, P52963, P59997, P97496, Q02225, Q08AX9, Q08BR4, Q08D35, Q16760, Q1LUC3, Q2I6J1, Q3UWM4, Q498F0, Q5JSH3, Q5JTW2, Q5RHD1, Q60665, Q64398, Q68FF0, Q6INA9, Q6NSI8, Q6NVE8, Q6PDG5, Q6ZMT4, Q7ZVP1, Q80U87, Q86XP1, Q8C5W4, Q8N7X0

Diamond homologs: A0FKG7, G3UZ78, Q00204, Q6BH66, Q7RZP7, Q8N7X0, Q9HFC8, Q92177, Q9R1S8, Q9Y6W3, Q9Y6Z8, Q5AK25, Q9VXH6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	254
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
242923	NC_000006.11:g.146735206_147036914del301709	Pathogenic
394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	Pathogenic
563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	Pathogenic
57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	Pathogenic
58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	Pathogenic

SpliceAI

6215 predictions. Top by Δscore:

Variant	Effect	Δscore
6:146599112:AGA:A	donor_gain	1.0000
6:146599113:GA:G	donor_gain	1.0000
6:146599113:GAG:G	donor_gain	1.0000
6:146599115:G:GG	donor_gain	1.0000
6:146664341:G:GG	donor_gain	1.0000
6:146672218:A:AG	acceptor_gain	1.0000
6:146672219:G:GG	acceptor_gain	1.0000
6:146676438:GATT:G	donor_gain	1.0000
6:146685825:GATG:G	donor_gain	1.0000
6:146716982:A:T	donor_gain	1.0000
6:146716993:G:GT	donor_gain	1.0000
6:146717070:G:GG	donor_gain	1.0000
6:146717534:A:AG	acceptor_gain	1.0000
6:146717535:G:GG	acceptor_gain	1.0000
6:146717535:GAA:G	acceptor_gain	1.0000
6:146717535:GAAAT:G	acceptor_gain	1.0000
6:146733891:A:AG	acceptor_gain	1.0000
6:146733892:G:GG	acceptor_gain	1.0000
6:146740458:GACTA:G	acceptor_gain	1.0000
6:146745920:A:AG	acceptor_gain	1.0000
6:146745920:AGAAG:A	acceptor_gain	1.0000
6:146745921:G:GG	acceptor_gain	1.0000
6:146745921:GAA:G	acceptor_gain	1.0000
6:146745921:GAAGG:G	acceptor_gain	1.0000
6:146746091:A:G	donor_gain	1.0000
6:146752527:CAGGT:C	acceptor_loss	1.0000
6:146752528:A:T	acceptor_loss	1.0000
6:146752529:G:GC	acceptor_loss	1.0000
6:146752713:GT:G	donor_gain	1.0000
6:146752715:G:GG	donor_gain	1.0000

AlphaMissense

11002 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:146635451:T:A	W51R	0.999
6:146635451:T:C	W51R	0.999
6:146664294:T:A	W236R	0.999
6:146664294:T:C	W236R	0.999
6:146664212:A:C	R208S	0.998
6:146664212:A:T	R208S	0.998
6:146635442:T:A	W48R	0.997
6:146635442:T:C	W48R	0.997
6:146635481:T:A	W61R	0.997
6:146635481:T:C	W61R	0.997
6:146745982:T:A	W1080R	0.997
6:146745982:T:C	W1080R	0.997
6:146745992:G:C	R1083P	0.997
6:146784764:G:C	W1394C	0.997
6:146784764:G:T	W1394C	0.997
6:146656888:T:A	W174R	0.996
6:146656888:T:C	W174R	0.996
6:146664211:G:C	R208T	0.996
6:146691239:T:A	W479R	0.996
6:146691239:T:C	W479R	0.996
6:146692866:A:C	S510R	0.996
6:146692868:T:A	S510R	0.996
6:146692868:T:G	S510R	0.996
6:146717035:T:A	W632R	0.996
6:146717035:T:C	W632R	0.996
6:146769062:T:A	W1265R	0.996
6:146769062:T:C	W1265R	0.996
6:146784762:T:A	W1394R	0.996
6:146784762:T:C	W1394R	0.996
6:146656944:T:A	N192K	0.995

dbSNP variants (sampled 300 via entrez): RS1000004379 (6:146640299 C>A), RS1000009915 (6:146682260 C>T), RS1000026708 (6:146776329 A>G), RS1000053788 (6:146755715 A>C), RS1000054393 (6:146776065 A>G), RS1000062775 (6:146603631 A>C,T), RS1000063543 (6:146686297 T>C,G), RS1000079642 (6:146772428 TA>T), RS1000099426 (6:146669894 C>A,T), RS1000107981 (6:146764658 T>C), RS1000110591 (6:146731514 A>C), RS1000139486 (6:146678475 C>T), RS1000156859 (6:146719453 G>T), RS1000162913 (6:146649482 AT>A), RS1000167988 (6:146783092 A>G)

Disease associations

OMIM: gene MIM:614630 | disease phenotypes: MIM:300624

GenCC curated gene-disease

Mondo (1): fragile X syndrome (MONDO:0010383)

Orphanet (2): OBSOLETE: Symptomatic form of fragile X syndrome in female carriers (Orphanet:449291), Fragile X syndrome (Orphanet:908)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004691_2	Huntington’s disease progression	9.000000e-07
GCST005727_1	Peanut allergy (parent-of-origin effect)	3.000000e-07
GCST007239_13	Ovarian cancer	7.000000e-06
GCST009202_4	Rostral middle frontal gyrus volume	4.000000e-06
GCST009532_10	Circulating leptin levels in high cardiovascular risk	8.000000e-06
GCST009532_24	Circulating leptin levels in high cardiovascular risk	7.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008336	disease progression measurement
EFO:0005939	parental genotype effect measurement
EFO:0007017	peanut allergy measurement
EFO:0005000	leptin measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D005600	Fragile X Syndrome	C10.597.606.360.455.500; C16.131.260.830.300; C16.320.180.830.300; C16.320.322.500.500; C16.320.400.525.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases methylation	2
bisphenol A	decreases methylation	1
sodium arsenite	affects methylation	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Methotrexate	decreases expression	1
Potassium Dichromate	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00768820	PHASE4	RECRUITING	The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
NCT00895752	PHASE4	COMPLETED	Riluzole in Fragile X Syndrome
NCT02642653	PHASE4	COMPLETED	Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
NCT05120505	PHASE4	RECRUITING	Metformin in Children With Fragile X Syndrome
NCT01282268	PHASE3	COMPLETED	Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
NCT01325220	PHASE3	COMPLETED	Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
NCT01555333	PHASE3	TERMINATED	An Open Label Extension Study in Subjects With Fragile X Syndrome
NCT04977986	PHASE3	COMPLETED	Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome
NCT05358886	PHASE3	COMPLETED	A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome
NCT05367960	PHASE3	ACTIVE_NOT_RECRUITING	An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome
NCT00054730	PHASE2	COMPLETED	Effects of CX516 on Functioning in Fragile X Syndrome and Autism
NCT00420459	PHASE2	COMPLETED	A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome
NCT00718341	PHASE2	COMPLETED	Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients
NCT00788073	PHASE2	COMPLETED	Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
NCT01013480	PHASE2	TERMINATED	An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome
NCT01015430	PHASE2	COMPLETED	A Study With RO4917523 in Patients With Fragile X Syndrome
NCT01120626	PHASE2	COMPLETED	Randomized Controlled Study of Donepezil in Fragile X Syndrome
NCT01253629	PHASE2	COMPLETED	Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
NCT01254045	PHASE2	COMPLETED	Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome
NCT01300923	PHASE2	COMPLETED	Acamprosate in Youth With Fragile X Syndrome
NCT01325740	PHASE2	SUSPENDED	A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome
NCT01329770	PHASE2	COMPLETED	Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome
NCT01348087	PHASE2	TERMINATED	Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome
NCT01357239	PHASE2	COMPLETED	Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
NCT01474746	PHASE2	COMPLETED	Trial of Sertraline to Treat Children With Fragile X Syndrome
NCT01517698	PHASE2	COMPLETED	A Study of RO4917523 in Patients With Fragile X Syndrome
NCT01725152	PHASE2	COMPLETED	Ganaxolone Treatment in Children With Fragile X Syndrome
NCT01750957	PHASE2	COMPLETED	A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome
NCT01855971	PHASE2	COMPLETED	Using Epigallocatechin Gallate (EGCG) and Cognitive Training to Modulate Cognitive Performance in Patients With Fragile X Syndrome (TESFX)
NCT01894958	PHASE2	COMPLETED	A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome
NCT02126995	PHASE2	COMPLETED	A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
NCT02680379	PHASE2	COMPLETED	Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome
NCT02920892	PHASE2	COMPLETED	AFQ056 for Language Learning in Children With FXS
NCT03569631	PHASE2	COMPLETED	A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
NCT03697161	PHASE2	COMPLETED	A Study of OV101 in Individuals With Fragile X Syndrome
NCT03722290	PHASE2	COMPLETED	Metformin in Children and Adults With Fragile X Syndrome
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04823052	PHASE2	WITHDRAWN	Investigation of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in Male Fragile X Syndrome Patients Aged 13-40
NCT05030129	PHASE2	COMPLETED	ERG/5-HTP in Fragile X Syndrome (FXS)
NCT05418049	PHASE2	ACTIVE_NOT_RECRUITING	Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge