SP7

Summary

SP7 (Sp7 transcription factor, HGNC:17321) is a protein-coding gene on chromosome 12q13.13, encoding Transcription factor Sp7 (Q8TDD2). Transcriptional activator essential for osteoblast differentiation.

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.

Source: NCBI Gene 121340 — RefSeq curated summary.

At a glance

• Gene–disease (curated): osteogenesis imperfecta type 12 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 15
• Clinical variants (ClinVar): 203 total — 1 pathogenic, 2 likely-pathogenic
• GTEx eGene: eQTL in 5 tissues, sQTL in 0 (q < 0.05)
• Phenotypes (HPO): 41
• Constraint (gnomAD): pLI 0.03 (LoF-tolerant), LOEUF 0.81 (unconstrained)
• Transcription factor: yes — 47 downstream targets (CollecTRI)
• MANE Select transcript: NM_001173467

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17321
Approved symbol	SP7
Name	Sp7 transcription factor
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	osterix, OSX
Ensembl gene	ENSG00000170374
Ensembl biotype	protein_coding
OMIM	606633
Entrez	121340

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

MANE Select: ENST00000536324

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 3: 1

ENST00000536324, ENST00000303846, ENST00000537210, ENST00000547755

RefSeq mRNA: 3 — MANE Select: NM_001173467 NM_001173467, NM_001300837, NM_152860

CCDS: CCDS44897, CCDS73475

Canonical transcript exons

ENST00000536324 — 3 exons

Exon	Start	End
ENSE00001152110	53326575	53329420
ENSE00002227847	53335626	53335693
ENSE00002411650	53336146	53336354

Expression profiles

Bgee: expression breadth broad, 46 present calls, max score 86.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 13.1698 / max 801.9943, expressed in 108 samples.

Highest expression (Bgee): primordial germ cell in gonad, tibia, male germ line stem cell (sensu Vertebrata) in testis, trabecular bone tissue, endothelial cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

SP7 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 5 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

5 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	3.5e-56	+0.78	12:53343677:C:T
Thyroid	eqtl	1.4e-08	-0.55	12:53336376:G:A
Adipose Subcutaneous	eqtl	2.2e-05	-0.39	12:53336376:G:A
Nerve Tibial	eqtl	5.3e-03	+0.74	12:52793414:G:A
Breast Mammary Tissue	eqtl	1.1e-02	-0.52	12:52579323:G:C

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
131240	5.7726	78
131241	5.5674	69
131242	0.9130	69
131239	0.5388	59
131238	0.2340	58
131237	0.1440	59

Top tissues by expression

showing 100 of 221 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.08	gold quality
tibia	UBERON:0000979	82.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.29	silver quality
trabecular bone tissue	UBERON:0002483	60.29	silver quality
endothelial cell	CL:0000115	59.16	gold quality
prefrontal cortex	UBERON:0000451	53.83	gold quality
bone element	UBERON:0001474	49.45	silver quality
mucosa of paranasal sinus	UBERON:0005030	47.19	gold quality
frontal cortex	UBERON:0001870	46.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	46.04	gold quality
bone marrow cell	CL:0002092	45.89	gold quality
neocortex	UBERON:0001950	45.76	gold quality
spinal cord	UBERON:0002240	45.47	gold quality
amygdala	UBERON:0001876	44.60	gold quality
Brodmann (1909) area 9	UBERON:0013540	44.29	gold quality
cerebral cortex	UBERON:0000956	43.82	gold quality
cartilage tissue	UBERON:0002418	43.40	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
anterior cingulate cortex	UBERON:0009835	42.99	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	42.92	silver quality
temporal lobe	UBERON:0001871	42.63	gold quality
substantia nigra pars compacta	UBERON:0001965	42.63	gold quality
primary visual cortex	UBERON:0002436	42.62	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
calcaneal tendon	UBERON:0003701	42.46	gold quality
bone marrow	UBERON:0002371	42.44	gold quality
subthalamic nucleus	UBERON:0001906	42.07	gold quality
occipital lobe	UBERON:0002021	41.90	gold quality
right lobe of thyroid gland	UBERON:0001119	41.76	silver quality
putamen	UBERON:0001874	41.71	silver quality
middle temporal gyrus	UBERON:0002771	41.71	gold quality
vastus lateralis	UBERON:0001379	41.70	gold quality
quadriceps femoris	UBERON:0001377	41.65	gold quality
tendon	UBERON:0000043	41.48	gold quality
caudate nucleus	UBERON:0001873	41.40	gold quality
Ammon’s horn	UBERON:0001954	41.34	silver quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
thyroid gland	UBERON:0002046	41.13	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
forebrain	UBERON:0001890	41.00	gold quality
right frontal lobe	UBERON:0002810	41.00	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	40.76	silver quality
nucleus accumbens	UBERON:0001882	40.74	silver quality
dorsal plus ventral thalamus	UBERON:0001897	40.74	gold quality
substantia nigra	UBERON:0002038	40.72	gold quality
subcutaneous adipose tissue	UBERON:0002190	40.72	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
midbrain	UBERON:0001891	40.68	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
brain	UBERON:0000955	40.50	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
left lobe of thyroid gland	UBERON:0001120	40.37	gold quality
medial globus pallidus	UBERON:0002477	40.36	gold quality
superior frontal gyrus	UBERON:0002661	40.35	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
cortical plate	UBERON:0005343	40.19	gold quality
jejunum	UBERON:0002115	40.18	gold quality
mammary duct	UBERON:0001765	40.10	gold quality
globus pallidus	UBERON:0001875	40.10	gold quality
colonic mucosa	UBERON:0000317	40.09	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
Brodmann (1909) area 46	UBERON:0006483	39.96	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
ventricular zone	UBERON:0003053	39.88	gold quality
skeletal muscle tissue	UBERON:0001134	39.83	gold quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality
heart right ventricle	UBERON:0002080	39.79	gold quality
pericardium	UBERON:0002407	39.77	gold quality
layer of synovial tissue	UBERON:0007616	39.77	gold quality
synovial joint	UBERON:0002217	39.70	gold quality
dorsal root ganglion	UBERON:0000044	39.68	gold quality
nipple	UBERON:0002030	39.68	gold quality
bronchial epithelial cell	CL:0002328	39.65	gold quality
decidua	UBERON:0002450	39.65	gold quality
penis	UBERON:0000989	39.64	gold quality
gingiva	UBERON:0001828	39.64	gold quality
bronchus	UBERON:0002185	39.64	gold quality
trigeminal ganglion	UBERON:0001675	39.63	gold quality
tendon of biceps brachii	UBERON:0008188	39.60	gold quality
inferior vagus X ganglion	UBERON:0005363	39.57	gold quality
superior surface of tongue	UBERON:0007371	39.56	gold quality
pylorus	UBERON:0001166	39.55	gold quality
renal medulla	UBERON:0000362	39.53	gold quality
pons	UBERON:0000988	39.51	gold quality
thymus	UBERON:0002370	39.50	gold quality
medulla oblongata	UBERON:0001896	39.48	gold quality
superior vestibular nucleus	UBERON:0007227	39.47	gold quality
cardia of stomach	UBERON:0001162	39.46	gold quality
mammalian vulva	UBERON:0000997	39.45	gold quality
parietal pleura	UBERON:0002400	39.45	gold quality
Brodmann (1909) area 23	UBERON:0013554	39.40	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.46

HPA expression

RNA tissue specificity: Not detected

39 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Olfactory bulb	tissue	16.8
Periaqueductal gray	tissue	4.4
Medulla oblongata	tissue	4.3
Substantia nigra	tissue	4.3
Corpus callosum	tissue	3.9
Spinal cord	tissue	3.7
Pons	tissue	3.3
Hypothalamus	tissue	3.3
Septum	tissue	3.2
Ventral forebrain	tissue	3.1
Thalamus	tissue	2.9
Midbrain	tissue	2.6
Amygdala	tissue	2.5
Putamen	tissue	2.4
Superior colliculi	tissue	2.4
Hippocampal formation	tissue	2.3
Basal ganglia	tissue	1.8	not detected
Caudate putamen	tissue	1.8
Cerebral cortex	tissue	1.6	not detected
Entorhinal cortex	tissue	1.6
Insular cortex	tissue	1.6
Temporal cortex	tissue	1.5
Prefrontal cortex	tissue	1.4
Motor cortex	tissue	1.4
Frontal cortex	tissue	1.3
Retrosplenial and cingulate cortex	tissue	1.3
Retrosplenial cortex	tissue	1.3
Occipital cortex	tissue	1.1
Somatosensory cortex	tissue	1.0
Nucleus accumbens	tissue	0.8
Postcentral gyrus	tissue	0.7
Testis	tissue	0.6	high
Hippocampus	tissue	0.6	not detected
Choroid plexus	tissue	0.5
Locus coeruleus	tissue	0.5
Cerebellum	tissue	0.2	not detected
Thyroid gland	tissue	0.2	not detected
Retina	tissue	0.1
Parathyroid gland	tissue	0.1	not detected

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — White matter (3.9), Ventral spinal cord (3.7), Dorsal spinal cord (3.1), Dorsal hippocampus (2.3), Subiculum (2.1).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

showing 30 of 47 targets:

Target	Regulation
ADRA1D
ALPL
BGLAP	Activation
BMP2
CAMK2A
CD34	Activation
CLEC2D	Activation
COL11A2	Activation
COL1A1	Activation
COL5A1	Activation
COL5A3	Unknown
DES
DKK1
DMP1
DSPP
EPHB2
FGFR1
FMOD	Activation
GATA1	Activation
GJA1
IBSP	Activation
IFITM5	Activation
IL1A	Activation
IL6
KDM6B
KRT27
MAPK1
MARK1
ME3
MIR93

Upstream regulators (CollecTRI, top): ATF4, BMP2, BMPR1B, CCL3, CCR1, DLX5, EP300, FOXC1, HIVEP2, HOXA10, MEF2C, MSX2, MYF5, MYOD1, NFE2L1, NRF1, PAX5, PBX1, PITX2, PRRX1, RUNX2, RUNX3, SATB2, SMAD1, SMAD4, SMAD5, SP7, SPOP, STAT1, TBX3, TBXT, TMEM119, TP53

miRNA regulators (miRDB)

Targeting SP7 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 82 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-516B-5P	99.56	66.33	1495

Functional genomics

gnomAD constraint: pLI 0.0319, LOEUF 0.808, missense Z 0.975 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000536324 — one region, missense o/e 0.94.

Literature-anchored findings (GeneRIF, showing 40)

• Telomerase accelerates osteogenesis of bone marrow stromal stem cells by upregulation of CBFA1, osterix, and osteocalcin. (PMID:12674332)
• Sp7 expression in humans is largely confined to osteoblasts and chondrocytes, both of which differentiate from the mesenchymal lineage. Of the two protein isoforms, the short isoform is most abundant. (PMID:14604442)
• The identification and initial characterization of the SP7 gene will facilitate the study of the molecular regulation of osteoblast differentiation in humans. (PMID:15474293)
• Gene expression of osterix was not detected in dental follicle cells during osteogenic differentiation. (PMID:16467978)
• results indicated that pcDNA3.1-Osx transfection promoted the osteogenic differentiation of adipose derived stem cells, while not affecting their proliferative ability (PMID:17206379)
• identified new Osterix interacting factors by using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (PMID:17303075)
• osterix functions as a molecular link between mechanostressing and osteogenic differentiation (PMID:17311298)
• These results demonstrate the transcriptional regulation of Osterix expression by Runx3 during differentiation of dental pulp cells into odontoblasts during tooth development. (PMID:17352693)
• might play an important role in the mechanical stress-induced osteogenic differentiation of periodontal ligament cells (PMID:18471237)
• This is the first report demonstrating significant upregulation in expression of Runx2 and Osterix by TGF-beta3 induction of human adipose-derived stromal cells during in vitro chondrogenesis. (PMID:18482578)
• dried plum polyphenols enhance osteoblast activity and function by attenuating the effect of TNFalpha and up-regulating Runx2, Osterix and IGF-I and increasing lysyl oxidase expression, and at the same time attenuate osteoclastogenesis signaling (PMID:18495459)
• This study further confirms that the involvement of SP7 in bone physiology is not only limited to the developmental step. (PMID:18777089)
• E4BP4 has a role as osteoblast transcriptional repressor in inhibiting both Runx2 and Osterix in myeloma bone disease (PMID:18829486)
• The high Osx levels induced the commitment towards the hematopoietic-endothelial lineage-by up-regulating the expression of CD34 and Gata1. (PMID:18932205)
• The presence of NFATc1 and Osx in our material lends further support to the hypothesis that during the process of aortic valve calcification there is expression of osteoblastic phenotypes by valvular cells (PMID:19019468)
• interactions between NO66 and Osx regulate Osx-target genes in osteoblasts by modulating histone methylation states (PMID:19927124)
• Sox9, Runx2, and Osterix-were play an essential role in determining the skeletal progenitor cells’ fate in benign cartilage and bone forming tumors. (PMID:21078438)
• Evidence from a genome-wide association study (in USA; in pts of European descent) indicate that an SNP at one locus, Osterix, is associated with childhood obesity; G allele of rs2016266 is significantly over-represented in obesity but only in girls. (PMID:21212767)
• Osterix expression in fibroblasts was induced by fluoride, which could play an important role in the development of fluoride bone injuries and ossification around bone. (PMID:21351630)
• RT-PCR showed that SP7 from osteoblasts from Pfeiffer syndrome grown on PLPG acid plates were downregulated after 30 days. (PMID:21558934)
• Akt activity enhances the osteogenic function of Osterix, at least in part, through protein stabilization and that BMP-2 regulates the osteogenic function of Osterix, at least in part, through Akt. (PMID:21777568)
• Osterix, a significant transcription factor of osteoblasts, was shown to be a direct target of miR-637 (PMID:21880893)
• Osterix regulates the expression of a set of extracellular matrix proteins which are involved in BMP-induced terminal osteoblast differentiation. (PMID:21898406)
• Results suggest that Osterix is a direct transcriptional regulator with repressive effect on NELL-1 gene expression, contributing to a delicate balance of regulatory effects on NELL-1 transcription with Runx2. (PMID:21931789)
• These results suggest that Erk1/2 regulates a major transcription factor, Osterix, during osteoblast differentiation by increasing its protein stability and transcriptional activity. (PMID:22056560)
• miR-93/Sp7 function loop mediates osteoblast mineralization (PMID:22467200)
• Osterix regulates calcification and degradation of chondrogenic matrices through matrix metalloproteinase 13 (MMP13) expression in association with transcription factor Runx2 during endochondral ossification (PMID:22869368)
• Consensus Sp1 sequences, located in the proximal promoter and in the bone-enhancer, as Osterix binding regions in the Col1a1 promoter in vitro and in vivo, were identified. (PMID:23159876)
• These results suggest that Osterix is a novel target of CaMKII and the activity of Osterix can be modulated by a novel mechanism involving CaMKII during osteoblast differentiation. (PMID:23402759)
• Osx is an unstable protein, and that the ubiquitin-proteasome pathway is involved in the regulation of Osx and thereby regulates osteoblast differentiation (PMID:23457570)
• hinge domain-dependent oligomerization of NO66 is essential for inhibition of Osx-dependent gene activation. (PMID:23620590)
• MiR-31, controls Osterix expression through association to the 3’ untranslated region of this transcription factor. (PMID:23827457)
• In adamantinomatous craniopharyngioma, Bmp2 was expressed primarily in the stellate reticulum and whorl-like array cells; Runx2 and Osterix tended to be expressed in calcification-related epithelia. (PMID:24387671)
• Osterix is a novel target of protein kinase A, and protein kinase A modulates osteoblast differentiation partially through the regulation of Osterix. (PMID:24905700)
• The 2 genes RUNX1 and SP7 resulted differently expressed in cells cultured on metallic supports if compared with the expression recorded for OIC (PMID:25025858)
• results provide a molecular description of a mechanism for Osx and Runx2 transcriptional cooperation that is subject to further regulation by MAPK-activating signals during osteogenesis. (PMID:25122769)
• Runx2-Sp7 molecular complex functionally cooperate for maximal induction of cell-phenotype-restricted genes (PMID:25158187)
• Osx might function as a potential regulator for the proliferation and odontoblastic differentiation of hDPCs. (PMID:25258338)
• Pin1 regulates the osteogenic activity of Osterix. (PMID:25463757)
• c-Src signaling modulates osteoblast differentiation at least in part through phosphorylation of Osterix. (PMID:25802190)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sp7	ENSDARG00000019516
mus_musculus	Sp7	ENSMUSG00000060284
rattus_norvegicus	Sp7	ENSRNOG00000014082
drosophila_melanogaster	luna	FBGN0040765
caenorhabditis_elegans	sptf-1	WBGENE00009743

Paralogs (22): KLF6 (ENSG00000067082), KLF8 (ENSG00000102349), KLF5 (ENSG00000102554), KLF1 (ENSG00000105610), KLF3 (ENSG00000109787), KLF7 (ENSG00000118263), KLF12 (ENSG00000118922), KLF9 (ENSG00000119138), KLF2 (ENSG00000127528), KLF16 (ENSG00000129911), KLF4 (ENSG00000136826), KLF10 (ENSG00000155090), KLF15 (ENSG00000163884), SP8 (ENSG00000164651), KLF13 (ENSG00000169926), KLF17 (ENSG00000171872), KLF11 (ENSG00000172059), SP6 (ENSG00000189120), SP5 (ENSG00000204335), SP9 (ENSG00000217236), KLF14 (ENSG00000266265), KLF18 (ENSG00000283039)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2153568) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 23 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal vertebrae morphology	2
abnormal rib morphology	2
abnormal skeleton development	2
abnormal axial skeleton morphology	2
abnormal bone mineralization	2
neonatal lethality, complete penetrance	2
abnormal trabecular bone morphology	1
abnormal spleen morphology	1
cyanosis	1
respiratory distress	1
abnormal limb morphology	1
abnormal limb bone morphology	1
increased circulating alkaline phosphatase level	1
rickets	1
abnormal facial morphology	1
clavicle hypoplasia	1
abnormal bone ossification	1
failure of bone ossification	1
failure of endochondral bone ossification	1
abnormal osteoblast differentiation	1
decreased airway resistance	1
preweaning lethality, complete penetrance	1
abnormal head shape	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pyricularia oryzae 70-15	G4N3L5	100.0%	Diamond
Gorilla gorilla gorilla	Q14V87	100.0%	Diamond
Pan troglodytes	Q19A40	100.0%	Diamond
Pyricularia oryzae	Q96UQ9	100.0%	Diamond
Sus scrofa	P79288	99.2%	Diamond
Bos taurus	Q5E9U0	96.1%	Diamond
Gallus gallus	Q90WR8	87.9%	Diamond
Xenopus tropicalis	Q0VA40	79.1%	Diamond
Xenopus laevis	Q5XGT8	73.1%	Diamond
Aspergillus niger CBS 513.88	A5ABV9	58.6%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
PFDN5	protein-coding	5204
MYG1	protein-coding	60314
AAAS	protein-coding	8086
SLC61A1	protein-coding	84975
ESPL1	protein-coding	9700
AMHR2	protein-coding	269
SP1	protein-coding	6667
PRR13	protein-coding	54458
PCBP2-OT1	ncRNA	102157401
PCBP2	protein-coding	5094

Protein

Protein identifiers

Transcription factor Sp7 — Q8TDD2 (reviewed: Q8TDD2)

Alternative names: Zinc finger protein osterix

All UniProt accessions (2): Q8TDD2, F8VV67

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences.

Subunit / interactions. Interacts with RIOX1; the interaction is direct and inhibits transcription activator activity.

Subcellular location. Nucleus.

Tissue specificity. Restricted to bone-derived cell.

Post-translational modifications. Ubiquitination at leads to proteasomal degradation. SP7 is a short-live protein with an endogenous half-life of approximately 12 hours. Propionylated. Depropionylation at Lys-371 by SIRT7 activates transcription factor activity and positively regulates bone formation by osteoblasts.

Disease relevance. Osteogenesis imperfecta 12 (OI12) [MIM:613849] A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

Miscellaneous. Generally expressed at much higher level than isoform 1.

Similarity. Belongs to the Sp1 C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TDD2-1	1, alpha, long	yes
Q8TDD2-2	2, beta, short

RefSeq proteins (3): NP_001166938, NP_001287766, NP_690599 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Zf-C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (20 total): modified residue 4, region of interest 4, zinc finger region 3, compositionally biased region 2, cross-link 2, mutagenesis site 2, chain 1, splice variant 1, short sequence motif 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TDD2-F1	52.78	0.00

Human Protein Atlas

Protein class: Predicted intracellular proteins, Transcription factors, Zinc-coordinating DNA-binding domains, Disease related genes, Human disease related genes, Congenital malformations, Congenital malformations of the musculoskeletal system

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

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 (6)

Type	Positions
N6-propionyllysine	41, 45, 361, 371
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in ubiquitin)	58, 230

Mutagenesis-validated functional residues (2)

Position	Phenotype
58	enhances osteogenic differentiation in c2c12 cells.
230	enhances osteogenic differentiation in c2c12 cells.

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 6; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

6 pathways:

ID	Pathway	Evidence
R-HSA-74160	Gene expression (Transcription)	—
R-HSA-212436	Generic Transcription Pathway	—
R-HSA-73857	RNA Polymerase II Transcription	—
R-HSA-8941326	RUNX2 regulates bone development	—
R-HSA-8940973	RUNX2 regulates osteoblast differentiation	electronic
R-HSA-8878166	Transcriptional regulation by RUNX2	—

MSigDB gene sets: 204 (showing top): GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, TAATAAT_MIR126, LFA1_Q6, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_TOOTH_MINERALIZATION, CHX10_01, GGGTGGRR_PAX4_03, GOBP_HEMATOPOIETIC_STEM_CELL_DIFFERENTIATION, GTGCCTT_MIR506, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, NF1_Q6_01, GOBP_POSITIVE_REGULATION_OF_STEM_CELL_DIFFERENTIATION, GATA1_01, GOBP_ORGANIC_ACID_METABOLIC_PROCESS

GO Biological Process (8): osteoblast differentiation (GO:0001649), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944), hematopoietic stem cell differentiation (GO:0060218), diphosphate metabolic process (GO:0071344), cementum mineralization (GO:0071529), positive regulation of stem cell differentiation (GO:2000738)

GO Molecular Function (8): 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 activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), zinc ion binding (GO:0008270), DEAD/H-box RNA helicase binding (GO:0017151), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

5 top-level categories:

Category	Pathways
RUNX2 regulates bone development	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1
Transcriptional regulation by RUNX2	1

GO top-level categories

31 GO namespaces:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
stem cell differentiation	2
cellular anatomical structure	2
ossification	1
cell differentiation	1
gene expression	1
RNA biosynthetic process	1
regulation of DNA-templated transcription	1
positive regulation of DNA-templated transcription	1
hematopoietic progenitor cell differentiation	1
phosphorus metabolic process	1
oxoacid metabolic process	1
tooth mineralization	1
positive regulation of cell differentiation	1
regulation of stem cell differentiation	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
enzyme binding	1
binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).

6 experimentally-supported GO terms:

GO term	NS	Evidence
hematopoietic stem cell differentiation	BP	direct assay
osteoblast differentiation	BP	direct assay
positive regulation of stem cell differentiation	BP	direct assay
positive regulation of transcription by RNA polymerase II	BP	direct assay
cytoplasm	CC	direct assay
nucleus	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 1,552 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SP7	RUNX2	Q13950	958
SP7	BGLAP	P02818	884
SP7	IBSP	P21815	880
SP7	COL1A1	P02452	867
SP7	BMP2	P12643	865
SP7	SPP1	P10451	800
SP7	TNFSF11	O14788	771
SP7	LRP5	O75197	758
SP7	ALPL	P05186	758
SP7	DLX5	P56178	756
SP7	TNFRSF11B	O00300	747
SP7	SOST	Q9BQB4	746
SP7	NFATC1	O95644	722
SP7	ACP5	P13686	717
SP7	COL1A2	P02464	707

IntAct

Human interaction partners of SP7 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

11 partners by confidence:

Partner	Interaction type	MIscore	Records
QARS1	physical association	0.560	5
TRIM62	physical association	0.560	5
FAM124B	physical association	0.560	3
GAS8	physical association	0.560	3
NFIA	physical association	0.470	1
NFIB	physical association	0.470	1
NFIC	physical association	0.470	1
GSK3B	physical association	0.460	2
EPHA2	association	0.350	1
PPP6C	association	0.350	1
IGF2BP3	proximity	0.270	1

BioGRID (307 interactions; top human partners by supporting records): CBL (Affinity Capture-Western; 3 records), CBLB (Affinity Capture-Western; 3 records), FBXW7 (Affinity Capture-Western; 3 records), NFIC (Proximity Label-MS; 2 records), SORL1 (Affinity Capture-MS; 2 records), ABCD3 (Affinity Capture-MS), AES (Proximity Label-MS), AKAP8 (Proximity Label-MS), ARID1A (Proximity Label-MS), ARID1B (Proximity Label-MS), ARID2 (Proximity Label-MS), ARID3A (Proximity Label-MS), ARID3B (Proximity Label-MS), ARID4B (Proximity Label-MS), ARID5B (Proximity Label-MS)

SIGNOR signaling

showing 7 of 8 signaling interactions:

A	Effect	B	Mechanism
AKT	up-regulates	SP7	phosphorylation
AKT1	up-regulates	SP7	phosphorylation
SP7	“up-regulates quantity by expression”	IFITM5	“transcriptional regulation”
SP7	“up-regulates quantity by expression”	BGLAP	“transcriptional regulation”
RUNX2	up-regulates	SP7	“transcriptional regulation”
SP7	up-regulates	Osteoblast_differentiation
MAPK14	“up-regulates activity”	SP7	phosphorylation

Disease & clinical

Genetic variants

Variant evidence for SP7: 203 ClinVar records (3 pathogenic / likely pathogenic); 15 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	116
Likely benign	67
Benign	7

Top pathogenic / likely-pathogenic (3)

Showing all 3 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
3572974	NM_001173467.3(SP7):c.810C>A (p.Cys270Ter)	Likely pathogenic	criteria provided, single submitter	1
31854	NM_001173467.3(SP7):c.1052del (p.Glu351fs)	Pathogenic	no assertion criteria provided	2
2503440	NM_001173467.3(SP7):c.359_362del (p.Asp120fs)	Likely pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore SP7’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 189):

Position(s)	Effect	Δscore	Sites
12:53336144–53336145	donor_loss	0.9900	5
12:53336180	donor_gain	0.9800
12:53336144	donor_loss	0.9600
12:53336153	donor_gain	0.8900
12:53329313	donor_gain	0.8700
12:53335701	acceptor_gain	0.8600
12:53335706	acceptor_gain	0.8500
12:53335715	acceptor_gain	0.8400
12:53329258	donor_gain	0.7800
12:53335624–53335625	donor_loss	0.7600	6

AlphaMissense

944 missense substitutions predicted likely pathogenic (of 2,762 scored), across 209 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
H314	8	0.999	1.000
H318	8	0.999	1.000
H344	8	0.999	1.000
H372	8	0.999	1.000
H348	8	0.998	1.000
D367	8	0.996	0.999
H376	8	0.992	0.998
D339	8	0.991	0.998
H310	8	0.990	0.998
H368	8	0.990	0.998
F335	8	0.987	1.000
F363	8	0.985	1.000
F324	8	0.964	1.000
F330	8	0.945	0.989
H294	8	0.907	0.993
S366	8	0.895	0.992
H297	8	0.816	0.945
D271	8	0.800	0.924
D130	8	0.783	0.935
C296	7	0.999	1.000

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene MIM:606633 | disease phenotypes: MIM:613849

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
osteogenesis imperfecta type 12	Strong	Autosomal recessive	3
osteogenesis imperfecta type 4	Supportive	Autosomal dominant

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (4 panels, 4 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

4 panels:

Panel	Rating
Fetal anomalies	green
Osteogenesis imperfecta	green
Paediatric disorders	green
Skeletal dysplasia	green

Mondo (2): osteogenesis imperfecta type 12 (MONDO:0013460), osteogenesis imperfecta type 4 (MONDO:0008148)

Orphanet (1): Osteogenesis imperfecta (Orphanet:666)

HPO phenotypes

41 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000160	Narrow mouth
HP:0000218	High palate
HP:0000244	Brachyturricephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000324	Facial asymmetry
HP:0000336	Prominent supraorbital ridges
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000402	Stenosis of the external auditory canal
HP:0000405	Conductive hearing impairment
HP:0000431	Wide nasal bridge
HP:0000591	Abnormal sclera morphology
HP:0000592	Blue sclerae
HP:0000648	Optic atrophy
HP:0000684	Delayed eruption of teeth
HP:0000703	Dentinogenesis imperfecta
HP:0000768	Pectus carinatum
HP:0000772	Abnormal rib morphology
HP:0000939	Osteoporosis
HP:0001187	Hyperextensibility of the finger joints
HP:0001249	Intellectual disability
HP:0001270	Motor delay
HP:0002007	Frontal bossing
HP:0002645	Wormian bones
HP:0002650	Scoliosis
HP:0002757	Recurrent fractures
HP:0002979	Bowing of the legs
HP:0003593	Infantile onset
HP:0004322	Short stature
HP:0004493	Craniofacial hyperostosis
HP:0005019	Diaphyseal undertubulation
HP:0005280	Depressed nasal bridge
HP:0005620	Hypermobility of interphalangeal joints
HP:0006487	Bowing of the long bones
HP:0006488	Bowing of the arm
HP:0011220	Prominent forehead
HP:0011800	Midface retrusion
HP:0030680	Abnormal cardiovascular system morphology
HP:0040160	Generalized osteoporosis

GWAS associations

15 associations:

Study	Trait	p-value
GCST90013406_16	Liver enzyme levels (alkaline phosphatase)	1e-41
GCST008839_494	Height	1e-29
GCST001482_12	Lumbar spine bone mineral density	3e-20
GCST90011900_214	Serum alkaline phosphatase levels	2e-18
GCST006979_555	Heel bone mineral density	7e-18
GCST005993_96	Mean corpuscular hemoglobin	3e-15
GCST010241_115	Apolipoprotein A1 levels	5e-13
GCST010242_10	HDL cholesterol levels	2e-12
GCST90002392_63	Mean corpuscular volume	8e-11
GCST90002390_136	Mean corpuscular hemoglobin	3e-9
GCST009672_1	Hypospadias (moderate to severe)	4e-9
GCST90020025_1425	Waist-to-hip ratio adjusted for BMI	6e-9
GCST90020027_369	Waist-hip index	9e-9
GCST000494_1	Bone mineral density (spine)	1e-8
GCST000295_5	Bone mineral density (spine)	1e-7

EFO canonical traits (from GWAS)

6 canonical traits:

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0009270	heel bone mineral density
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
beta-glycerophosphoric acid	affects cotreatment, increases expression, decreases reaction	4
Dexamethasone	increases expression, decreases reaction, decreases expression, affects cotreatment	4
bisphenol A	increases expression, decreases expression, decreases reaction	2
ascorbate-2-phosphate	affects cotreatment, decreases reaction, increases expression	2
Resveratrol	decreases reaction, increases expression	2
Fulvestrant	decreases reaction, increases expression	2
Ascorbic Acid	decreases reaction, decreases expression, affects cotreatment, increases expression	2
Cadmium	decreases expression, decreases reaction, increases abundance	2
Tetrachlorodibenzodioxin	affects expression	2
Cadmium Chloride	decreases expression, decreases reaction, increases abundance	2
protosappanin B	increases expression	1
naringin	decreases expression, decreases reaction	1
aucubin	increases expression	1
titanium dioxide	increases expression	1
tributyltin	affects cotreatment, decreases reaction, increases expression	1
pyrrolidine dithiocarbamic acid	increases expression, affects cotreatment, decreases reaction	1
isonicotinamide	increases expression	1
zirconium oxide	increases expression	1
alpha-glycerophosphoric acid	affects cotreatment, decreases expression	1
2,4-di-tert-butylphenol	decreases expression, affects cotreatment	1
cordycepin	decreases reaction, increases expression, affects cotreatment	1
notoginsenoside R1	decreases reaction, increases expression	1
anacardic acid	decreases reaction, increases expression	1
protosappanin A	increases expression	1
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	decreases reaction, increases expression, decreases expression	1
ginkgolic acid	decreases reaction, increases expression	1
SAG compound	decreases expression, affects cotreatment	1
bisphenol S	increases expression	1
SR 3335	decreases expression, decreases reaction	1
Rosiglitazone	increases expression, affects cotreatment, decreases reaction	1

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_F6JD	EDITGENE SP7 Knockout U2OS Cell Line	Cancer cell line	Female
CVCL_HC95	HEK293 eGFP-SP7	Transformed cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 79 trials:

NCT	Phase	Status	Title
NCT00131469	Phase 4	COMPLETED	Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta
NCT00159419	Phase 4	COMPLETED	Bisphosphonate Therapy for Osteogenesis Imperfecta
NCT01713231	Phase 4	COMPLETED	Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta
NCT02303873	Phase 4	COMPLETED	Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta
NCT03735537	Phase 4	COMPLETED	Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid
NCT04152551	Phase 4	RECRUITING	Effects of Bisphosphonates on OI-Related Hearing Loss
NCT00001305	Phase 3	COMPLETED	Growth Hormone Therapy in Osteogenesis Imperfecta
NCT00005901	Phase 3	COMPLETED	Pamidronate to Treat Osteogenesis Imperfecta in Children
NCT00106028	Phase 3	COMPLETED	Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children
NCT00982124	Phase 3	COMPLETED	An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta
NCT02352753	Phase 3	TERMINATED	Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI
NCT03638128	Phase 3	TERMINATED	Open-label Extension of Study 20130173 of Denosumab in Children and Young Adults With Osteogenesis Imperfecta
NCT05768854	Phase 3	ACTIVE_NOT_RECRUITING	Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta
NCT05972551	Phase 3	ACTIVE_NOT_RECRUITING	Study to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta
NCT06636071	Phase 3	ACTIVE_NOT_RECRUITING	Setrusumab in Pediatric Japanese Subjects With Osteogenesis Imperfecta
NCT07366086	Phase 3	RECRUITING	Pediatric Safety Follow-up Study of Prior Treatment With Romosozumab for Osteogenesis Imperfecta
NCT03118570	Phase 2	COMPLETED	A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804
NCT00063479	Phase 2	COMPLETED	Bisphosphonate Treatment of Osteogenesis Imperfecta
NCT00131118	Phase 2	COMPLETED	Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta
NCT01417091	Phase 2	COMPLETED	Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta
NCT01679080	Phase 2	TERMINATED	The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta
NCT01799798	Phase 2	COMPLETED	Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab
NCT03208582	Phase 2	COMPLETED	Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta?
NCT03216486	Phase 2	WITHDRAWN	An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta
NCT05312697	Phase 2	TERMINATED	Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta
NCT07062588	Phase 2	RECRUITING	Osteogenesis Imperfecta Trial of AGA2115 for ADUlts With COL1A1 and/or COL1A2 GeNetic Variations (IDUN)
NCT07557446	Phase 2	RECRUITING	A Dose REgimen-Finding Study of AGA2115 in Chinese Patients With Osteogenesis ImpeRfecta (EIR)
NCT00705120	Phase 1	COMPLETED	Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation
NCT02172885	Phase 1	COMPLETED	Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta
NCT03064074	Phase 1	COMPLETED	Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta
NCT04545554	Phase 1	COMPLETED	Study to Evaluate Romosozumab in Children and Adolescents With Osteogenesis Imperfecta
NCT05231668	Phase 1	TERMINATED	Single Ascending Dose Study of SAR439459 in Adults With Osteogenesis Imperfecta (OI)
NCT06086613	Phase 1	COMPLETED	A First-in-Human Study Evaluating AGA2115 in Adult Healthy Volunteers
NCT05125809	Phase 2/3	ACTIVE_NOT_RECRUITING	Setrusumab vs Placebo for Osteogenesis Imperfecta
NCT03706482	Phase 1/2	ACTIVE_NOT_RECRUITING	Boost Brittle Bones Before Birth
NCT04623606	Phase 1/2	UNKNOWN	Boost to Brittle Bones - Stem Cell Transplantation for Treatment of Brittle Bones
NCT05559801	Phase 1/2	NOT_YET_RECRUITING	Mesenchymal Cell Therapy in Osteogenesis Imperfecta (OI)
NCT00001594	Not specified	COMPLETED	Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
NCT00076830	Not specified	COMPLETED	Evaluation and Treatment of Patients With Connective Tissue Disease
NCT00187018	Not specified	COMPLETED	Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study
NCT00655681	Not specified	COMPLETED	Prevention of Post Operative Bone Loss in Children
NCT02432625	Not specified	RECRUITING	BBD Longitudinal Study of Osteogenesis Imperfecta
NCT02531087	Not specified	ACTIVE_NOT_RECRUITING	Urinary Biomarkers of OI Pathobiology
NCT02542540	Not specified	TERMINATED	Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI)
NCT02793063	Not specified	COMPLETED	Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2
NCT02814591	Not specified	UNKNOWN	Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy
NCT02868294	Not specified	UNKNOWN	Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval
NCT02934451	Not specified	ACTIVE_NOT_RECRUITING	Dental Malocclusion and Craniofacial Development in OI
NCT03029312	Not specified	COMPLETED	Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility
NCT03072303	Not specified	COMPLETED	Pregnancy in Osteogenesis Imperfecta (OI) Registry
NCT03557567	Not specified	COMPLETED	NGS Strategy Effectiveness in Molecular Diagnosis
NCT03575221	Not specified	COMPLETED	Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation
NCT03841188	Not specified	COMPLETED	Nutritional Interventional in Pediatric Patients With Osteogenesis Imperfecta
NCT04009733	Not specified	COMPLETED	Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study
NCT04115774	Not specified	RECRUITING	Registry of Osteogenesis Imperfecta
NCT04119388	Not specified	COMPLETED	Evaluation of the Benefits of Adaptive Physical Activity in Children and Adolescents With Osteogenesis Imperfecta
NCT04169568	Not specified	COMPLETED	Osteogenesis Imperfecta Blood Pressure Study
NCT04231916	Not specified	COMPLETED	High Resolution Thermal Imaging to Identify Vertebral Fractures in Children and Young People With Osteogenesis Imperfecta
NCT04282408	Not specified	COMPLETED	Experimental Evaluation of Back Braces for the Treatment of Spinal Deformity Produced With 3D Printing Technology
NCT04694144	Not specified	UNKNOWN	Results of Telescoping Nail In OI; a Case Series