RUNX2

Summary

RUNX2 (RUNX family transcription factor 2, HGNC:10472) is a protein-coding gene on chromosome 6p21.1, encoding Runt-related transcription factor 2 (Q13950). Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis.

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing.

Source: NCBI Gene 860 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cleidocranial dysplasia 1 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 31
• Clinical variants (ClinVar): 574 total — 119 pathogenic, 39 likely-pathogenic
• Phenotypes (HPO): 106
• Transcription factor: yes — 135 downstream targets (CollecTRI)
• MANE Select transcript: NM_001024630

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10472
Approved symbol	RUNX2
Name	RUNX family transcription factor 2
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	AML3, PEBP2A1, PEBP2aA1
Ensembl gene	ENSG00000124813
Ensembl biotype	protein_coding
OMIM	600211
Entrez	860

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000359524, ENST00000371432, ENST00000371436, ENST00000371438, ENST00000473041, ENST00000478660, ENST00000483243, ENST00000483377, ENST00000576263, ENST00000625924, ENST00000646519, ENST00000647337, ENST00000889302, ENST00000889303, ENST00000889304

RefSeq mRNA: 4 — MANE Select: NM_001024630 NM_001015051, NM_001024630, NM_001278478, NM_001369405

CCDS: CCDS43467, CCDS43468, CCDS4913, CCDS64443

Canonical transcript exons

ENST00000647337 — 9 exons

Exon	Start	End
ENSE00001370319	45422593	45422957
ENSE00001398866	45546827	45551082
ENSE00003472894	45328661	45328784
ENSE00003506726	45431863	45432019
ENSE00003512100	45491941	45492114
ENSE00003586560	45437947	45438051
ENSE00003596622	45545217	45545282
ENSE00003658935	45512246	45512407
ENSE00003824034	45328330	45328460

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 97.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.0836 / max 1110.1289, expressed in 1548 samples.

FANTOM5 promoters (28 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68047	11.9472	640
68068	2.8506	938
68105	2.5430	642
68062	2.2553	990
68071	1.6963	600
68072	1.6544	552
68067	1.5129	649
68048	1.3562	78
68063	1.1245	592
68075	1.0215	494

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	97.77	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.88	gold quality
trabecular bone tissue	UBERON:0002483	92.90	gold quality
parotid gland	UBERON:0001831	90.85	gold quality
palpebral conjunctiva	UBERON:0001812	87.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.71	gold quality
nasal cavity mucosa	UBERON:0001826	85.97	gold quality
cartilage tissue	UBERON:0002418	85.53	gold quality
endometrium epithelium	UBERON:0004811	84.67	gold quality
amniotic fluid	UBERON:0000173	83.48	gold quality
blood	UBERON:0000178	83.06	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	82.76	gold quality
saliva-secreting gland	UBERON:0001044	82.44	gold quality
bone marrow	UBERON:0002371	81.17	gold quality
upper leg skin	UBERON:0004262	81.00	gold quality
skin of hip	UBERON:0001554	80.93	gold quality
minor salivary gland	UBERON:0001830	80.92	gold quality
paraflocculus	UBERON:0005351	80.63	gold quality
mucosa of sigmoid colon	UBERON:0004993	80.62	gold quality
seminal vesicle	UBERON:0000998	80.50	gold quality
middle frontal gyrus	UBERON:0002702	79.72	gold quality
nasal cavity epithelium	UBERON:0005384	79.70	gold quality
mouth mucosa	UBERON:0003729	78.62	gold quality
bronchial epithelial cell	CL:0002328	78.03	gold quality
stromal cell of endometrium	CL:0002255	77.80	gold quality
monocyte	CL:0000576	77.65	gold quality
pylorus	UBERON:0001166	77.64	gold quality
leukocyte	CL:0000738	77.26	gold quality
Brodmann (1909) area 10	UBERON:0013541	77.21	gold quality
calcaneal tendon	UBERON:0003701	77.07	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-6	yes	37.63
E-MTAB-9067	yes	18.04
E-CURD-112	yes	16.87
E-CURD-122	yes	15.81
E-MTAB-8498	yes	13.85
E-ANND-3	yes	7.73
E-MTAB-9801	yes	7.31
E-MTAB-6678	yes	6.52

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

135 targets.

Target	Regulation
ABCB1	Activation
ACAN	Activation
ADAM2
ADGRG2
AKT1	Activation
ALPL	Activation
AMBN	Unknown
AR	Unknown
ATF6
AXIN2	Unknown
BAX	Unknown
BCL2	Activation
BGLAP	Activation
BIRC5	Unknown
BMP2	Activation
CCN2	Unknown
CCNE1	Repression
CD74
CDKN1A	Repression
CDKN1B	Activation
CEBPA	Repression
CEBPD	Repression
CEL
CLC	Repression
COL10A1	Activation
COL1A1	Activation
COL1A2	Activation
COL2A1	Activation
CSF1R	Repression
CSF2

JASPAR motifs

Motif	Name	Family
MA0511.1	RUNX2	Runt-related factors
MA0511.2	RUNX2	Runt-related factors

JASPAR matrix evidence (PMIDs): PMID:22158627, PMID:20483917

Upstream regulators (CollecTRI, top): AR, ARID4A, ATF4, BHLHE40, BMP2, BMP4, BMP5, BMPR1B, BMPR2, CBFB, CEBPB, CTNNB1, CUX1, DLX3, DLX5, ELK1, EPAS1, ESR1, ESRRA, FOS, FOXO1, FOXO3, GAS7, GFI1, GGCX, GLI1, GLI2, GLIS3, HDAC4, HEY1, HEY2, HIVEP3, HNF1A, ID1, JUN, JUNB, KAT6A, KAT6B, KLF10, LEF1

Literature-anchored findings (GeneRIF, showing 40)

• clavicular dysplasia was more pronounced with the R19OW mutation, while the bone density was markedly reduced in individuals with either R19OW or deletion of nucleotide C821 (PMID:11768584)
• Analysis of the three-dimensional structure of the DNA binding runt domain of the RUNX2 protein and its interaction with DNA provide insight into how missense mutations affect RUNX2 function and cause cleidocranial dysplasia. (PMID:11857736)
• RT-PCR analysis of human bone marrow stromal cells during osteogenesis in vitro: the mRNA levels of bone morphogenetic protein-2 (BMP-2), bone sialoprotein-II (BSP), osteopontin (OP) and cbfa-1 increased with culture time in osteogenic medium. (PMID:11968014)
• is an essential transcription factor for the regulation of osteoblast differentiation (PMID:11979975)
• regulatory signals are active at transcriptional subnuclear sites (PMID:12060751)
• Runx2 expression in osteoblasts is reduced by hypoxia, and may be a mechanism of osteoporosis by decreased vascular supply. (PMID:12088880)
• Differential regulation of Cbfa1/Runx2 and osteocalcin gene expression by vitamin-D3, dexamethasone, and local growth factors in primary human osteoblasts (PMID:12112004)
• variants may be related to genetic effects on bone mineral density and osteoporosis (PMID:12162506)
• Cleidocranial dysplasia could result from much smaller losses in the RUNX2 function than has been envisioned on the basis of the conventional haploinsufficiency model. (PMID:12196916)
• RUNX2 is negatively regulated by the phosphorylation of two conserved serines (PMID:12231506)
• TWIST inactivation reduces expression and DNA binding to the osteocalcin promoter in osteoblasts. (PMID:12270142)
• This protein is regulated by human basic fibroblast growth factor. (PMID:12393937)
• Cbfa1 is required in mediating the bone anabolic effects of parathyroid hormone. (PMID:12554794)
• Runx2/Cbfa1 activity increases through a posttranslational mechanism involving phosphorylation of key residues and has a role in osteoblastic differentiation (PMID:12568398)
• Cbfa1 is a key regulatory factor in the vascular calcification observed in dialysis patients and is up-regulated in response to many uremic toxins. (PMID:12631081)
• Telomerase accelerates osteogenesis of bone marrow stromal stem cells by upregulation of CBFA1, osterix, and osteocalcin. (PMID:12674332)
• Cleidocranial dysplasia (CCD) is an inherited autosomal-dominant skeletal disease caused by heterozygous mutations in the RUNX2 protein. (PMID:12732182)
• Expression of Runx2 in prostate cancer may be the molecular switch that is associated with expression of various bone-specific factors in prostate cancer. (PMID:12746842)
• Runx2 is ectopically expressed in breast cancer cells and that one isoform of Runx2 can activate bsp expression in these cells. (PMID:12750290)
• six novel mutations causing 2 amino acid substitutions and four frameshift mutations were identified in the RUNX2 gene of Italian cleidocranial dysplasia patients. (PMID:12815605)
• Runx2 has a role in parathyroid hormone-induced anti-apoptotic signaling in osteoblasts, which is shortened by proteasomal degradation (PMID:14523023)
• mechanical stress plays a key role in the progression of OPLL through an increase in Cbfa1 expression (PMID:14639470)
• The regulation of SOST expression by Cbfa1 suggests a potential role for the sclerosteosis gene in homeostatic regulation of osteoblast differentiation and function. (PMID:14739291)
• RUNX1 and RUNX2 regulate TIMP1 gene expression (PMID:15051730)
• Runx2 has a role in menin-induced bone morphogenetic protein 2- and transforming growth factor beta-regulated osteoblastic differentiation (PMID:15150273)
• Runx2 expression in breast cancer cells provides a molecular phenotype that enables the interactions between tumor cells and the bone microenvironment that lead to osteolytic disease. (PMID:15231660)
• As a target gene of endostatin, cbfa1/osf2 was found to be specifically expressed in granulocytes in human breast neoplasms. (PMID:15273700)
• RUNX2 DNA binding is regulated by IGF-1 through sequential activation of the PI3K/Pak1 and ERK1/2 signaling cascade (PMID:15304489)
• Osteocalcin mRNA was down-regulated in Apert osteoblasts carrying the FGFR2 P253R mutation, Runt-related transcription factor-2 (RUNX2) mRNA was differentially spliced, and FGF2 secretion was greater. (PMID:15389579)
• Growth hormone attenuates the transcriptional activity of Runx2 by facilitating its physical association with Stat3beta (PMID:15476590)
• Physiologic coupling of osteoblast differentiation to cell cycle withdrawal is mediated through runx2 and p27KIP1, and these processes are disrupted in osteosarcoma. (PMID:15583032)
• PLZF plays important roles in early osteoblastic differentiation as an upstream regulator of CBFA1 (PMID:15623533)
• Fidelity of Runx2 intranuclear organization is necessary for expression of target genes that mediate the osteolytic activity of metastatic breast cancer cells. (PMID:15665096)
• Capability of Imatinib to induce an anti-leukemic effect in Core Binding Factor (CBF)-leukemia patients. (PMID:15725473)
• 4 new genes may be under the control of Cbfa1; 3 of them, SelM, elF-4AI, & RPS24, seemed to be linked to a global change in cellular metabolism & cell growth; the CD99/MIC2 gene was strongly overexpressed in cells presenting high levels of Deltacbfa1 (PMID:15750689)
• Runx2 collaborates with Oct-1 and contributes to the expression of a mammary gland-specific gene. (PMID:15798204)
• RUNX2/CBFA1 has a critical role in the decreased bone formation in multiple myeloma (PMID:15933061)
• We propose that nuclear-cytoplasmic shuttling of RUNX2 may modulate its transcriptional activity, as well as its ability to interface with signal transduction pathways that are integrated at RUNX2 containing subnuclear sites. (PMID:16110492)
• Runx2-regulated MMP9 levels are functionally related to the invasion properties of cancer cells (PMID:16166639)
• Runx2 has a role in organizing gene transcription in developing and maturing osteoblasts [review] (PMID:16187316)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	runx2a	ENSDARG00000040261
mus_musculus	Runx2	ENSMUSG00000039153
rattus_norvegicus	Runx2	ENSRNOG00000020193
drosophila_melanogaster	run	FBGN0003300
caenorhabditis_elegans	rnt-1	WBGENE00004393

Paralogs (2): RUNX3 (ENSG00000020633), RUNX1 (ENSG00000159216)

Protein

Protein identifiers

Runt-related transcription factor 2 — Q13950 (reviewed: Q13950)

Alternative names: Acute myeloid leukemia 3 protein, Core-binding factor subunit alpha-1, Oncogene AML-3, Osteoblast-specific transcription factor 2, Polyomavirus enhancer-binding protein 2 alpha A subunit, SL3-3 enhancer factor 1 alpha A subunit, SL3/AKV core-binding factor alpha A subunit

All UniProt accessions (6): A0A0D9SEN7, A0A2R8Y7Z3, Q13950, I3L0L0, I3L354, I3L4L9

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5’-PYGPYGGT-3’, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE). Inhibits KAT6B-dependent transcriptional activation.

Subunit / interactions. Heterodimer of an alpha and a beta subunit. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with XRCC6 (Ku70) and XRCC5 (Ku80). Interacts with HIVEP3. Interacts with IFI204. Interaction with SATB2; the interaction results in enhanced DNA binding and transactivation by these transcription factors. Binds to HIPK3. Interacts with FOXO1 (via a C-terminal region); the interaction inhibits RUNX2 transcriptional activity towards BGLAP. This interaction is prevented on insulin or IGF1 stimulation as FOXO1 is exported from the nucleus. Interacts with CCNB1, KAT6A and KAT6B. Interacts with FOXP3. Interacts with TMEM119. Interacts with OLFM2. Interacts with IPO7; the interaction inhibits RUNX2 nuclear translocation in osteoblasts. Interacts with DDX5.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Specifically expressed in osteoblasts.

Post-translational modifications. Phosphorylated; probably by MAP kinases (MAPK). Phosphorylation by HIPK3 is required for the SPEN/MINT and FGF2 transactivation during osteoblastic differentiation. Phosphorylation at Ser-451 by CDK1 promotes endothelial cell proliferation required for tumor angiogenesis probably by facilitating cell cycle progression. Isoform 3 is phosphorylated on Ser-340.

Disease relevance. Cleidocranial dysplasia 1 (CLCD1) [MIM:119600] A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. CLCD1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) [MIM:156510] An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. The disease is caused by variants affecting the gene represented in this entry. Analysis for copy-number variations revealed that a 105 kb duplication within RUNX2 segregated with the MDMHB phenotype in a region with maximum linkage. Real-time PCR for copy-number variation in genomic DNA in eight samples, as well as sequence analysis of fibroblast cDNA from one subject with MDMHB confirmed that affected family members were heterozygous for the presence of an intragenic duplication encompassing exons 3 to 5 of RUNX2. These three exons code for the Q/A domain and the functionally essential DNA-binding Runt domain of RUNX2. The RUNX2 duplication found in individuals with MDMHB leads to a gain of function.

Domain organisation. A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes and contains the phosphorylation sites.

Isoforms (3)

UniProt ID	Names	Canonical?
Q13950-1	1, Cbfa1a	yes
Q13950-2	2
Q13950-3	3, Cbfa1b

RefSeq proteins (4): NP_001015051, NP_001019801, NP_001265407, NP_001356334 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000040	AML1_Runt	Family
IPR008967	p53-like_TF_DNA-bd_sf	Homologous_superfamily
IPR012346	p53/RUNT-type_TF_DNA-bd_sf	Homologous_superfamily
IPR013524	Runt_dom	Domain
IPR013711	RunxI_C_dom	Domain
IPR016554	TF_Runt-rel_RUNX	Family
IPR027384	Runx_central_dom_sf	Homologous_superfamily

Pfam: PF00853, PF08504

UniProt features (76 total): sequence variant 54, compositionally biased region 6, region of interest 6, modified residue 3, splice variant 2, chain 1, domain 1, cross-link 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6VGD	X-RAY DIFFRACTION	4.2
6VGE	X-RAY DIFFRACTION	4.25
6VG8	X-RAY DIFFRACTION	4.31
6VGG	X-RAY DIFFRACTION	4.31

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13950-F1	59.02	0.22

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 (4): 267, 451, 238, 340

Mutagenesis-validated functional residues (1):

Position	Phenotype
451	reduced dna-binding and impaired phosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-2032785	YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-8878166	Transcriptional regulation by RUNX2
R-HSA-8939246	RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
R-HSA-8939902	Regulation of RUNX2 expression and activity
R-HSA-8940973	RUNX2 regulates osteoblast differentiation
R-HSA-8941284	RUNX2 regulates chondrocyte maturation
R-HSA-8941326	RUNX2 regulates bone development
R-HSA-8941332	RUNX2 regulates genes involved in cell migration
R-HSA-8941333	RUNX2 regulates genes involved in differentiation of myeloid cells

MSigDB gene sets: 732 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, AAGCAAT_MIR137, BENPORATH_ES_WITH_H3K27ME3, GOBP_CARTILAGE_DEVELOPMENT, MORF_MSH3, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, MORF_BRCA1, GOZGIT_ESR1_TARGETS_DN

GO Biological Process (47): ossification (GO:0001503), osteoblast differentiation (GO:0001649), endochondral ossification (GO:0001958), osteoblast fate commitment (GO:0002051), chondrocyte differentiation (GO:0002062), chondrocyte development (GO:0002063), osteoblast development (GO:0002076), regulation of transcription by RNA polymerase II (GO:0006357), smoothened signaling pathway (GO:0007224), gene expression (GO:0010467), positive regulation of gene expression (GO:0010628), hemopoiesis (GO:0030097), neuron differentiation (GO:0030182), T cell differentiation (GO:0030217), regulation of ossification (GO:0030278), bone mineralization (GO:0030282), BMP signaling pathway (GO:0030509), positive regulation of chondrocyte differentiation (GO:0032332), embryonic forelimb morphogenesis (GO:0035115), ligamentous ossification (GO:0036076), regulation of fibroblast growth factor receptor signaling pathway (GO:0040036), odontogenesis of dentin-containing tooth (GO:0042475), regulation of odontogenesis of dentin-containing tooth (GO:0042487), regulation of cell differentiation (GO:0045595), positive regulation of osteoblast differentiation (GO:0045669), negative regulation of smoothened signaling pathway (GO:0045879), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), cell maturation (GO:0048469), embryonic cranial skeleton morphogenesis (GO:0048701), stem cell differentiation (GO:0048863), epithelial cell proliferation (GO:0050673), positive regulation of epithelial cell proliferation (GO:0050679), SMAD protein signal transduction (GO:0060395), stem cell proliferation (GO:0072089), response to sodium phosphate (GO:1904383), positive regulation of stem cell proliferation (GO:2000648), skeletal system development (GO:0001501), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (15): 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 transcription factor activity (GO:0003700), ATP binding (GO:0005524), protein domain specific binding (GO:0019904), chromatin DNA binding (GO:0031490), bHLH transcription factor binding (GO:0043425), sequence-specific double-stranded DNA binding (GO:1990837), transcription cis-regulatory region binding (GO:0000976), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA binding (GO:0003677), chromatin binding (GO:0003682), protein binding (GO:0005515), DNA-binding transcription factor binding (GO:0140297)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Transcriptional regulation by RUNX2	4
Generic Transcription Pathway	2
RUNX2 regulates bone development	2
Transcriptional regulation by RUNX1	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ossification	4
cellular anatomical structure	4
cell differentiation	3
cell development	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
osteoblast differentiation	2
chondrocyte differentiation	2
regulation of DNA-templated transcription	2
transcription cis-regulatory region binding	2
binding	2
multicellular organismal process	1
replacement ossification	1
endochondral bone morphogenesis	1
cell fate commitment	1
cartilage development	1
transcription by RNA polymerase II	1
cell surface receptor signaling pathway	1
macromolecule biosynthetic process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
generation of neurons	1
lymphocyte differentiation	1
T cell activation	1
regulation of multicellular organismal process	1
biomineral tissue development	1
cellular response to BMP stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
regulation of chondrocyte differentiation	1
positive regulation of cell differentiation	1
positive regulation of cartilage development	1
embryonic limb morphogenesis	1
forelimb morphogenesis	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
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

Protein interactions and networks

STRING

3905 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RUNX2	CBFB	Q13951	996
RUNX2	BGLAP	P02818	981
RUNX2	HDAC4	P56524	979
RUNX2	MSX2	P35548	976
RUNX2	DLX5	P56178	961
RUNX2	SP7	Q8TDD2	955
RUNX2	CEBPB	P17676	940
RUNX2	JUN	P05412	938
RUNX2	SMURF1	Q9HCE7	935
RUNX2	IBSP	P21815	931
RUNX2	BMP2	P12643	931
RUNX2	TWIST1	Q15672	905
RUNX2	SPP1	P10451	902
RUNX2	SMAD3	P84022	897
RUNX2	ALPL	P05186	891

IntAct

52 interactions, top by confidence:

A	B	Type	Score
CBFB	RUNX1	psi-mi:“MI:0914”(association)	0.870
RUNX2	CBFB	psi-mi:“MI:0915”(physical association)	0.670
PPM1D	RUNX2	psi-mi:“MI:0915”(physical association)	0.600
PPM1D	RUNX2	psi-mi:“MI:0203”(dephosphorylation reaction)	0.600
RUNX2	PIN1	psi-mi:“MI:0915”(physical association)	0.590
PIN1	RUNX2	psi-mi:“MI:0915”(physical association)	0.590
UBTF	RUNX2	psi-mi:“MI:0915”(physical association)	0.560
RUNX2	UBTF	psi-mi:“MI:0914”(association)	0.560
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.530
STUB1	DNAJC13	psi-mi:“MI:0914”(association)	0.530
TP73	RUNX2	psi-mi:“MI:0403”(colocalization)	0.460
TP73	RUNX2	psi-mi:“MI:0915”(physical association)	0.460
RUNX2	SOX9	psi-mi:“MI:0407”(direct interaction)	0.440
DMD	RUNX2	psi-mi:“MI:0407”(direct interaction)	0.440
YAP1	RUNX2	psi-mi:“MI:0915”(physical association)	0.400
SMAD5	RUNX2	psi-mi:“MI:0915”(physical association)	0.400
RUNX2	SMAD6	psi-mi:“MI:0915”(physical association)	0.400
RUNX2	SMURF1	psi-mi:“MI:0915”(physical association)	0.400
SMAD6	RUNX2	psi-mi:“MI:0915”(physical association)	0.400
RUNX2	E2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (144): RUNX2 (Affinity Capture-Western), STAT5A (Affinity Capture-Western), SKP2 (Affinity Capture-Western), RUNX2 (Affinity Capture-Western), RUNX2 (Affinity Capture-Western), RUNX2 (Affinity Capture-MS), RUNX2 (Affinity Capture-MS), RUNX2 (Affinity Capture-Western), HDAC3 (Reconstituted Complex), RUNX2 (Reconstituted Complex), RUNX2 (Affinity Capture-Western), RUNX2 (Biochemical Activity), RUNX2 (Affinity Capture-Western), RUNX2 (Affinity Capture-MS), RUNX2 (Affinity Capture-MS)

ESM2 similar proteins: A0A084AFG9, A0A0D1C1H8, A0A0D1CY03, A0A142C7A3, A0A364LYQ6, A0A3G1DJJ7, A0A7M4BDQ2, A1CBG9, A1DDX0, A2RA63, B0Y1D1, B0Y8Y9, B4XXY3, B6H7F3, B8N0E6, G0RS98, G3Y415, G4NEE4, G5EB20, N4XMB0, O00167, O13719, P20945, P34440, P87233, P9WER3, Q01196, Q03347, Q04461, Q08775, Q13761, Q13950, Q1K8E7, Q2U9L6, Q4WD42, Q4WV91, Q4WVI6, Q4WW99, Q4WWN2, Q58DB6

Diamond homologs: G5EFQ5, P22814, Q01196, Q03347, Q08775, Q13761, Q13950, Q25520, Q63046, Q64131, Q6PF39, Q9W349, Q9Z2J9, Q9XSB7

SIGNOR signaling

75 interactions.

A	Effect	B	Mechanism
RUNX2	“up-regulates quantity by expression”	ALPL	“transcriptional regulation”
RUNX2	“up-regulates quantity by expression”	BGLAP	“transcriptional regulation”
RUNX2	“up-regulates quantity by expression”	COL1A1	“transcriptional regulation”
RUNX2	“up-regulates quantity by expression”	COL1A2	“transcriptional regulation”
RUNX2	“up-regulates quantity by expression”	COL2A1	“transcriptional regulation”
RUNX2	“up-regulates quantity by expression”	SPP1	“transcriptional regulation”
RUNX2	“up-regulates quantity by expression”	TNFSF11	“transcriptional regulation”
KAT6A	up-regulates	RUNX2	binding
KAT6B	up-regulates	RUNX2	binding
YAP1	down-regulates	RUNX2	binding
FGF2	up-regulates	RUNX2
RUNX2	“up-regulates quantity by expression”	BMP2	“transcriptional regulation”
CDK1	up-regulates	RUNX2	phosphorylation
HDAC5	down-regulates	RUNX2	deacetylation
HDAC4	down-regulates	RUNX2	deacetylation
DLX3	“up-regulates quantity by expression”	RUNX2	“transcriptional regulation”
DLX5	“up-regulates quantity by expression”	RUNX2	“transcriptional regulation”
MAPK11	up-regulates	RUNX2
RUNX2	up-regulates	CREBBP	binding
RUNX2	down-regulates	NOTCH1	binding
EP300	“up-regulates quantity”	RUNX2	acetylation
CTNNB1	up-regulates	RUNX2
MAPK3	up-regulates	RUNX2	phosphorylation
WWTR1	up-regulates	RUNX2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transcriptional regulation by RUNX2	6	54.4×	2e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein ubiquitination	7	8.8×	4e-03
DNA damage response	5	8.1×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	119
Likely pathogenic	39
Uncertain significance	240
Likely benign	89
Benign	48

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071561	NM_001024630.4(RUNX2):c.274del (p.Arg92fs)	Pathogenic
1071562	NM_001024630.4(RUNX2):c.407T>C (p.Leu136Pro)	Pathogenic
1071563	NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp)	Pathogenic
1073566	NM_001024630.4(RUNX2):c.516dup (p.Ala173fs)	Pathogenic
1075908	NC_000006.11:g.(?45514554)(45515042_?)del	Pathogenic
1075909	NC_000006.11:g.(?45290616)(45631495_?)dup	Pathogenic
1175725	NM_001024630.4(RUNX2):c.539C>A (p.Ala180Glu)	Pathogenic
1185697	NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter)	Pathogenic
1185698	NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter)	Pathogenic
1185699	NM_001024630.4(RUNX2):c.739del (p.Ser247fs)	Pathogenic
1300878	NM_001024630.4(RUNX2):c.1385dup (p.Asp463fs)	Pathogenic
1351557	NC_000006.11:g.(?45399580)(45399776_?)del	Pathogenic
1373526	NM_001024630.4(RUNX2):c.138_175dup (p.Gln59fs)	Pathogenic
1395296	NM_001024630.4(RUNX2):c.1384G>T (p.Gly462Ter)	Pathogenic
1405763	NM_001024630.4(RUNX2):c.868C>T (p.Gln290Ter)	Pathogenic
1406741	NC_000006.11:g.(?45296464)(45480154_?)del	Pathogenic
1411501	NM_001024630.4(RUNX2):c.274dup (p.Arg92fs)	Pathogenic
1451140	NM_001024630.4(RUNX2):c.617del (p.Asn206fs)	Pathogenic
1454458	NM_001024630.4(RUNX2):c.1214_1217dup (p.Gly407fs)	Pathogenic
1455184	NM_001024630.4(RUNX2):c.423+2T>G	Pathogenic
1455210	NC_000006.11:g.(?45405664)(45480164_?)del	Pathogenic
1456922	NM_001024630.4(RUNX2):c.422dup (p.Val142fs)	Pathogenic
1457220	NM_001024630.4(RUNX2):c.423+1_423+5del	Pathogenic
1458374	NM_001024630.4(RUNX2):c.652A>G (p.Lys218Glu)	Pathogenic
1458376	NM_001024630.4(RUNX2):c.874_875del (p.Gln292fs)	Pathogenic
1458744	NC_000006.11:g.(?45399580)(45405808_?)del	Pathogenic
1525147	NM_001024630.4(RUNX2):c.388T>C (p.Trp130Arg)	Pathogenic
1683808	NM_001024630.4(RUNX2):c.604del (p.Thr202fs)	Pathogenic
1686134	NM_001024630.4(RUNX2):c.581-1G>A	Pathogenic
1691336	NM_001024630.4(RUNX2):c.407_411del (p.Leu136fs)	Pathogenic

SpliceAI

3692 predictions. Top by Δscore:

Variant	Effect	Δscore
6:45365195:ACTT:A	donor_loss	1.0000
6:45365196:CT:C	donor_loss	1.0000
6:45365197:TTACA:T	donor_loss	1.0000
6:45365198:TACA:T	donor_loss	1.0000
6:45365199:A:AC	donor_gain	1.0000
6:45365199:A:C	donor_loss	1.0000
6:45365200:C:CC	donor_gain	1.0000
6:45365200:CA:C	donor_gain	1.0000
6:45365200:CAT:C	donor_gain	1.0000
6:45365297:TTCAT:T	acceptor_gain	1.0000
6:45365299:CAT:C	acceptor_gain	1.0000
6:45365301:TCTA:T	acceptor_loss	1.0000
6:45365302:C:CC	acceptor_gain	1.0000
6:45365303:T:A	acceptor_loss	1.0000
6:45422953:TCAAG:T	donor_loss	1.0000
6:45422954:CAAGG:C	donor_loss	1.0000
6:45422955:AAGG:A	donor_loss	1.0000
6:45422957:GGT:G	donor_loss	1.0000
6:45422958:GTA:G	donor_loss	1.0000
6:45422959:T:A	donor_loss	1.0000
6:45431860:TA:T	acceptor_loss	1.0000
6:45431861:A:AC	acceptor_loss	1.0000
6:45431862:G:A	acceptor_loss	1.0000
6:45432016:CGAGG:C	donor_loss	1.0000
6:45432017:GAG:G	donor_gain	1.0000
6:45432019:GGTA:G	donor_loss	1.0000
6:45432020:G:T	donor_loss	1.0000
6:45432021:T:A	donor_loss	1.0000
6:45438047:CAGAA:C	donor_gain	1.0000
6:45438048:AGAA:A	donor_gain	1.0000

AlphaMissense

3407 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:45422859:C:G	H109D	1.000
6:45422868:G:A	E112K	1.000
6:45422872:T:A	L113H	1.000
6:45422872:T:C	L113P	1.000
6:45422872:T:G	L113R	1.000
6:45422875:T:A	V114D	1.000
6:45422881:C:T	T116I	1.000
6:45422886:A:C	S118R	1.000
6:45422888:C:A	S118R	1.000
6:45422888:C:G	S118R	1.000
6:45422896:T:C	F121S	1.000
6:45422899:T:A	L122Q	1.000
6:45422899:T:C	L122P	1.000
6:45422901:T:A	C123S	1.000
6:45422901:T:C	C123R	1.000
6:45422902:G:A	C123Y	1.000
6:45422902:G:C	C123S	1.000
6:45422902:G:T	C123F	1.000
6:45422903:C:G	C123W	1.000
6:45422904:T:C	S124P	1.000
6:45422905:C:G	S124W	1.000
6:45422905:C:T	S124L	1.000
6:45422911:T:A	L126Q	1.000
6:45422911:T:C	L126P	1.000
6:45422911:T:G	L126R	1.000
6:45422913:C:A	P127T	1.000
6:45422913:C:T	P127S	1.000
6:45422914:C:A	P127H	1.000
6:45422914:C:G	P127R	1.000
6:45422914:C:T	P127L	1.000

dbSNP variants (sampled 300 via entrez): RS1000005865 (6:45397253 A>G), RS1000021390 (6:45438326 A>G), RS1000028594 (6:45451868 C>G), RS1000029702 (6:45496319 A>G), RS1000043269 (6:45489736 A>G), RS1000055114 (6:45487935 T>A), RS1000057431 (6:45422022 GAGCGGCGGCCGCCGCGGA>G), RS1000062947 (6:45347510 C>A,T), RS1000087306 (6:45404036 G>C), RS1000116034 (6:45466228 G>A,T), RS1000119845 (6:45397032 T>C), RS1000156168 (6:45427778 T>C), RS1000162360 (6:45518662 A>C), RS1000168498 (6:45384810 G>A), RS1000173332 (6:45416282 A>G)

Disease associations

OMIM: gene MIM:600211 | disease phenotypes: MIM:119600, MIM:156510, MIM:123100, MIM:119530

GenCC curated gene-disease

Disease	Classification	Inheritance
cleidocranial dysplasia 1	Definitive	Autosomal dominant
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	Strong	Autosomal dominant

Mondo (5): cleidocranial dysplasia 1 (MONDO:0007340), metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome (MONDO:0007984), craniosynostosis (MONDO:0015469), orofacial cleft 1 (MONDO:0007335), nephrotic syndrome (MONDO:0005377)

Orphanet (3): Cleidocranial dysplasia (Orphanet:1452), Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome (Orphanet:2504), Craniosynostosis (Orphanet:1531)

HPO phenotypes

106 total (30 of 106 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000162	Glossoptosis
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000189	Narrow palate
HP:0000218	High palate
HP:0000233	Thin vermilion border
HP:0000239	Large fontanelles
HP:0000242	Parietal bossing
HP:0000246	Sinusitis
HP:0000248	Brachycephaly
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000327	Hypoplasia of the maxilla
HP:0000337	Broad forehead
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000431	Wide nasal bridge
HP:0000444	Convex nasal ridge
HP:0000670	Carious teeth
HP:0000680	Delayed eruption of primary teeth
HP:0000682	Abnormal dental enamel morphology
HP:0000684	Delayed eruption of teeth
HP:0000696	Delayed eruption of permanent teeth

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST000175_49	Height	8.000000e-06
GCST001588_3	Periodontal microbiota	1.000000e-06
GCST002702_97	Height	2.000000e-06
GCST003637_2	facial morphology traits (multivariate analysis)	9.000000e-10
GCST003853_3	Hip minimal joint space width	2.000000e-10
GCST003853_4	Hip minimal joint space width	1.000000e-09
GCST004485_20	Survival in pancreatic cancer	4.000000e-06
GCST004861_87	Itch intensity from mosquito bite	9.000000e-11
GCST004863_121	Mosquito bite size	2.000000e-11
GCST005667_8	Central corneal thickness	2.000000e-08
GCST006394_7	Intraocular pressure	3.000000e-10
GCST006412_57	Intraocular pressure	2.000000e-11
GCST006418_8	Progressive supranuclear palsy	2.000000e-08
GCST006903_10	Hip shape (DXA scan)	7.000000e-09
GCST006926_14	Osteoarthritis (hip)	1.000000e-11
GCST007001_4	Cerebrospinal AB1-42 levels in normal cognition	7.000000e-07
GCST007429_38	Lung function (FVC)	2.000000e-09
GCST007431_50	Lung function (FEV1/FVC)	2.000000e-16
GCST010273_9	Gout (normal type)	8.000000e-07
GCST010702_90	Subcortical volume (MOSTest)	1.000000e-08
GCST010703_82	Brain morphology (MOSTest)	5.000000e-16
GCST011011_50	Youthful appearance (self-reported)	2.000000e-09
GCST011011_69	Youthful appearance (self-reported)	5.000000e-09
GCST011741_14	LDL cholesterol levels in HIV infection	5.000000e-06
GCST011741_76	LDL cholesterol levels in HIV infection	5.000000e-06
GCST012361_2	Relative brain age	1.000000e-10
GCST90000654_24	Central corneal thickness	1.000000e-16
GCST90002381_154	Eosinophil count	1.000000e-09
GCST90002382_346	Eosinophil percentage of white cells	2.000000e-09
GCST90002389_323	Lymphocyte percentage of white cells	2.000000e-09

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0007873	cartilage thickness measurement
EFO:0000638	overall survival
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0005213	central corneal thickness
EFO:0004695	intraocular pressure measurement
EFO:0004685	hip geometry
EFO:0004670	beta-amyloid 1-42 measurement
EFO:0004312	vital capacity
EFO:0004713	FEV/FVC ratio
EFO:0004346	neuroimaging measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0010602	brain age measurement
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0005091	monocyte count

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D002973	Cleidocranial Dysplasia	C05.116.099.708.207; C05.660.207.207; C16.131.621.207.207
D003398	Craniosynostoses	C05.116.099.370.894.232; C05.660.207.240; C05.660.906.364; C16.131.621.207.240; C16.131.621.906.364
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643
C566121	Orofacial Cleft 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
beta-glycerophosphoric acid	affects cotreatment, decreases reaction, increases expression, affects reaction, increases reaction	9
Dexamethasone	decreases expression, increases reaction, affects cotreatment, decreases reaction, increases expression (+1 more)	9
(+)-JQ1 compound	decreases reaction, decreases expression, increases expression, increases reaction, decreases response to substance (+1 more)	8
Estradiol	decreases reaction, increases expression, increases reaction, affects cotreatment, decreases expression	8
Valproic Acid	increases expression, affects cotreatment, decreases methylation, affects reaction	8
Cadmium Chloride	decreases expression, decreases reaction, increases abundance	8
Tetrachlorodibenzodioxin	decreases reaction, increases expression, affects expression	6
bisphenol A	decreases expression, affects methylation, increases expression, decreases reaction	5
ascorbate-2-phosphate	increases reaction, affects cotreatment, decreases reaction, increases expression, affects reaction	5
Ascorbic Acid	affects cotreatment, increases expression, affects reaction, decreases reaction, decreases expression	5
Calcitriol	affects binding, increases reaction, decreases expression, increases expression	5
Cadmium	increases abundance, decreases expression, decreases reaction	4
Tretinoin	decreases reaction, increases expression, decreases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Resveratrol	decreases reaction, increases expression, affects binding, increases reaction	3
Sodium Fluoride	affects reaction, increases expression, increases abundance, decreases expression	3
Aflatoxin B1	decreases methylation, increases expression, increases methylation	3
naringin	decreases expression, decreases reaction, increases expression	2
perfluorooctane sulfonic acid	decreases expression	2
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	decreases expression, decreases reaction, increases expression	2
U 0126	decreases expression, decreases reaction, affects response to substance	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases reaction, increases phosphorylation	2
dorsomorphin	affects cotreatment, decreases reaction, increases expression	2
neohesperidin	decreases reaction, increases expression	2
CRT 0066101	decreases reaction, increases expression, decreases expression, affects response to substance	2
Fulvestrant	decreases reaction, increases expression	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Cannabidiol	increases expression	2
Cholecalciferol	affects cotreatment, increases expression, increases reaction	2
Cisplatin	decreases expression, increases reaction, affects expression	2

Cellosaurus cell lines

17 cell lines: 11 induced pluripotent stem cell, 3 embryonic stem cell, 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A1WC	GZHMCi003-A	Induced pluripotent stem cell	Female
CVCL_A4TH	CCD1-iPS 2	Induced pluripotent stem cell	Female
CVCL_A4TI	CCD1-iPS 4	Induced pluripotent stem cell	Female
CVCL_A4TJ	CCD1-iPS 6	Induced pluripotent stem cell	Female
CVCL_A4TK	CCD2-iPS 4	Induced pluripotent stem cell	Female
CVCL_A4TL	CCD2-iPS 7	Induced pluripotent stem cell	Female
CVCL_A4TM	CCD2-iPS 8	Induced pluripotent stem cell	Female
CVCL_A4TN	CCD2-iPS 9	Induced pluripotent stem cell	Female
CVCL_A4TP	CCD2-iPS 12	Induced pluripotent stem cell	Female
CVCL_A4TS	Rev1-iPSC	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00722436	PHASE4	TERMINATED	Tranexamic Acid for Craniofacial Surgery
NCT02188576	PHASE4	COMPLETED	The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery
NCT00308321	PHASE4	UNKNOWN	Long Term Tapering or Standard Steroids for Nephrotic Syndrome
NCT01021540	PHASE4	COMPLETED	Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes
NCT01028287	PHASE4	COMPLETED	Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN)
NCT01162005	PHASE4	COMPLETED	Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children
NCT01895894	PHASE4	COMPLETED	Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome
NCT02238418	PHASE4	COMPLETED	Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria.
NCT02382575	PHASE4	UNKNOWN	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome
NCT02427880	PHASE4	COMPLETED	Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema
NCT03210688	PHASE4	COMPLETED	Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy
NCT03347357	PHASE4	COMPLETED	Pharmacokinetics of Tacrolimus in Children
NCT05696977	PHASE4	UNKNOWN	Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients
NCT05966818	PHASE4	UNKNOWN	Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome.
NCT06026787	PHASE4	COMPLETED	Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome
NCT00354731	PHASE3	COMPLETED	Efficacy of Pentoxifylline on Primary Nephrotic Syndrome
NCT00615667	PHASE3	COMPLETED	Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS)
NCT00981838	PHASE3	COMPLETED	Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS)
NCT01197040	PHASE3	COMPLETED	Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome
NCT01309477	PHASE3	COMPLETED	The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS)
NCT02132195	PHASE3	COMPLETED	Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome
NCT02257697	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome
NCT02438982	PHASE3	COMPLETED	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome
NCT03141970	PHASE3	COMPLETED	Prednisolone Trial in Children Younger Than 4 Years
NCT03501459	PHASE3	UNKNOWN	Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome
NCT05079789	PHASE3	TERMINATED	Amiloride in Nephrotic Syndrome
NCT05716880	PHASE3	RECRUITING	Ketoanalogues for Muscle Mass Loss in Nephrotic Syndrome
NCT06635720	PHASE3	ACTIVE_NOT_RECRUITING	REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE)
NCT02229968	PHASE2	ACTIVE_NOT_RECRUITING	Efficacy of Amicar for Children Having Craniofacial Surgery
NCT00001212	PHASE2	COMPLETED	Drug Therapy in Lupus Nephropathy
NCT00001959	PHASE2	COMPLETED	Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis)
NCT00004466	PHASE2	TERMINATED	Pilot Study of Atorvastatin in Children With Chronic Hyperlipidemia Secondary to Nephrotic Syndrome
NCT00004990	PHASE2	COMPLETED	Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis
NCT00977977	PHASE2	RECRUITING	Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy
NCT02394106	PHASE2	TERMINATED	Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome
NCT02394119	PHASE2	COMPLETED	Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor Dependent Idiopathic Nephrotic Syndrome
NCT02592798	PHASE2	COMPLETED	Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Adults and Children 6 Years and Older With Excessive Loss of Protein in the Urine Due to Either Focal Segmental Glomerulosclerosis (FSGS) or Minimal Change Disease (MCD)
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