RUNX2 - RUNX family transcription factor 2 Gene

Also Known as CCD; AML3; CCD1; CLCD; OSF2; CBFA1; OSF-2; PEA2aA; PEBP2aA; CBF-alpha-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 860

About RUNX2

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:45,328,330-45,551,082 (from NCBI)

This gene has 12 transcripts (splice variants), 147 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in bone marrow (RPKM 1.9), appendix (RPKM 1.3) and 23 other tissues.

Summary

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. [provided by RefSeq, Jul 2016]

RUNX2 Products (4)

mRNA Protein Name
NM_001015051.4 NP_001015051.3 runt-related transcription factor 2 isoform b
NM_001024630.4 NP_001019801.3 runt-related transcription factor 2 isoform a
NM_001278478.2 NP_001265407.1 runt-related transcription factor 2 isoform d
NM_001369405.1 NP_001356334.1 runt-related transcription factor 2 isoform e
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11965546 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in SMAD protein signal transduction IGI
IGI: Inferred from genetic interaction
25012146 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11965546 GOA
involved in osteoblast differentiation IEP
IEP: Inferred from expression pattern
20128911 GOA
involved in osteoblast differentiation IGI
IGI: Inferred from genetic interaction
25012146 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11965546 GOA
involved in positive regulation of osteoblast differentiation IMP
IMP: Inferred from mutant phenotype
28703881 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
28505335 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
28505335 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RUNX2 Protein Structure

Runt

Runt: Runt domain (99 - 233)

RunxI

RunxI: Runx inhibition domain (427 - 521)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 521 a.a.
Protein Preferred Names Protein Names

runt-related transcription factor 2

  • PEA2-alpha A

RUNX2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RUNX2 Q13950 UBTF Homo sapiens P17480 20160071
Intra
RUNX2 Q13950 PIN1 Homo sapiens Q13526 24113655
Intra
RUNX2 Q13950 PIN1 Homo sapiens Q13526 24113655
Intra
RUNX2 Q13950 SMAD6 Homo sapiens O43541 16299379
Cross: Cross-species interaction Intra: Intraspecies interaction

RUNX2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80316 RUNX2 Antibody (YA085) WB, IHC-P, ICC/IF, IP, FC, IF-Tissue, mIHC Human, Mouse, Rat
HY-P80888 RUNX1/2/3 Antibody (YA086) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse, Rat
HY-P80888A RUNX1/2/3 Antibody (YA086)(PBS only) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse, Rat
HY-P86399 RUNX2 Antibody (YA6091) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Cleidocranial Dysplasia
  • Cleidocranial Dysostosis

  • CLCD

  • Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

  • Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

  • CCD

  • Marie-Sainton Disease

  • Dysplasia Cleidocranial

  • Dento-Osseous Dysplasia

  • Marie-Sainton Syndrome

  • Dysplasia, Cleidocranial

Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
  • Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydacty Syndrome

  • MDMHB

  • Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly

  • Dysplasia, Metaphyseal, With Maxillary Hypoplasia And Brachydactyly

Retinal Cone Dystrophy 3a
  • Achromatopsia 6

  • RCD3A

  • Retinal Cone Dystrophy 3

  • Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Pde6h-Related

  • Cone Dystrophy With Night Blindness And Supernormal Rod Responses Pde6h-Related

  • Cone Dystrophy, Retinal 3a

  • Cone Dystrophy With Night Blindness And Supernormal Rod Responses

  • Cone Dystrophy With Supernormal Rod Electroretinogram

  • Dystrophy, Retinal Cone, Type 3a

Bone Disease
  • Bone Diseases

  • Skeletal Disease

  • Skeletal Disorder

  • Disorder Of Skeletal System

Metaphyseal Dysplasia
  • Bakwin-Krida Syndrome

  • Pyle'S Disease

  • Pyle-Cohn Syndrome

Hyperphosphatemia
Teeth, Supernumerary
  • Supernumerary Teeth

Parietal Foramina
  • Enlarged Parietal Foramina

  • Hereditary Cranium Bifidum

  • Symmetric Parietal Foramina

  • Catlin Marks

  • Foramina Parietalia Permagna

  • Caitlin Marks

  • Cranium Bifidum

  • Cranium Bifidum Occultum

  • Fenestrae Parietals Symmetricae

  • Fpp

  • Giant Parietal Foramina

  • Pfm

  • Fenestrae Parietales Symmetricae

  • Foramina, Parietal

Sclerosteosis
  • Cortical Hyperostosis With Syndactyly

  • Sost

  • Cortical Hyperostosis-Syndactyly Syndrome

Brachydactyly
Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Parietal Foramina With Cleidocranial Dysplasia
  • PFMCCD

  • Cleidocranial Dysplasia With Parietal Foramina

  • Parietal Foramina With Clavicular Hypoplasia

  • Foramina, Parietal, With Cleidocranial Dysplasia

Osteonecrosis
  • Bone Necrosis

  • Avascular Necrosis Of Bone

  • Aseptic Necrosis

  • Necrosis Of Bone Nos

  • Aseptic Osteonecrosis

  • Aseptic Necrosis Of Bone, Site Unspecified

  • Aseptic Or Avascular Bone Necrosis

  • Aseptic Necrosis Of Bone

  • Necrotic Bone

  • Necrotizing Bone

  • Spontaneous Osteonecrosis

  • Osteoradionecrosis

Myeloid Leukemia
  • Myeloid Leukaemia

  • Leukaemia Myelogenous

  • Leukemia Myelogenous

  • Myeloid Granulocytic Leukaemia

  • Myeloid Granulocytic Leukemia

  • Non-Lymphocytic Leukemia

  • Leukemia, Myeloid

  • Granulocytic Leukaemia

  • Myelogenous Leukaemia

  • Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Root Resorption
Leukemia
  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos

Hypophosphatasia
  • Phosphoethanolaminuria

  • Childhood Hypophosphatasia

  • Deficiency Of Alkaline Phosphatase

  • Hypophospatasia, Childhood

  • Hypophosphatasia Mild

  • Phosphoethanol-Aminuria

  • Rathburn Disease

  • Hpp

  • Rathbun Disease

  • Hypophosphatasia, Childhood

  • Infantile Hypophosphatasia

Osseous Heteroplasia, Progressive
  • Progressive Osseous Heteroplasia

  • POH

  • Osteoma Cutis

  • Familial Ectopic Ossification

  • Ectopic Ossification Familial Type

  • Ectopic Ossification

  • Heterotopic Ossification

  • Ectopic Ossification, Familial

  • Cutaneous Ossification

  • Myositis Ossificans Progressiva

  • Osteodermia

  • Osteosis Cutis

  • Ossification Heterotopic

  • Heteroplasia, Osseous, Progressive

  • Fibrodysplasia Ossificans Progressiva

Saethre-Chotzen Syndrome
  • SCS

  • Acs3

  • Acs Iii

  • Chotzen Syndrome

  • Acrocephaly, Skull Asymmetry, And Mild Syndactyly

  • Acrocephalosyndactyly Type 3

  • Acrocephalosyndactyly, Type Iii

  • Acrocephalosyndactyly Type Iii

  • Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

  • Auralcephalosyndactyly

  • Acs 3

  • Acrocephalo-Syndactyly, Type 3

  • Blepharophimosis,Epicanthus Inversus, And Ptosis 3

  • Aural Cephalosyndactyly

  • Kurczynski-Casperson Syndrome

  • Acrocephalosyndactyly Iii

  • Dysostosis Craniofacialis With Hypertelorism

  • Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

  • Sakati Syndrome

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Chondrosarcoma
  • Cartilaginous Cancer

  • Chondrosarcoma Of Bone

  • Primary Chondrosarcoma Of The Bone

  • CHDSA

Nephrotic Syndrome
  • Finnish Congenital Nephrotic Syndrome

  • Ns - [Nephrotic Syndrome]

  • Nephrosis Syndrome

  • Nephrosis Nos

  • Glomerular Lesion Nephrosis

Dysostosis
  • Dysostoses

Bone Development Disease
Glucocorticoid-Induced Osteoporosis
  • Steroid-Induced Osteoporosis

Bone Remodeling Disease
Bone Resorption Disease
  • Bone Resorption

Osteoarthritis
  • Osteoarthrosis

  • Degenerative Joint Disease

  • Hypertrophic Arthritis

  • Arthropathy

  • Degenerative Polyarthritis

  • Degenerative Arthritis

  • Osteoarthrosis And Allied Disorder

  • Arthritis, Degenerative

  • Oa

  • Osteoarthritis Deformans

  • Osteoarthrosis Deformans

  • Kashin-Beck Disease

Retinoblastoma
  • RB

  • Trilateral Retinoblastoma

  • RB1

  • Retinoblastoma, Trilateral

  • Neuroblastoma Of Retina

  • Rb - Retinoblastoma

  • Eye Cancer, Retinoblastoma

  • Retinal Cancer

  • Retinal Tumor

  • Glioma, Retinal

  • Non-Hereditary Retinoblastoma

  • Childhood Cancer Retinoblastoma

  • Malignant Neoplasm Of Retina

  • Retinal Neoplasms

Periodontitis
  • Chronic Pericementitis

  • Chronic Periodontitis

Ischemic Bone Disease
Uremia
  • Uremia Of Renal Origin

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Tooth Resorption
Aortic Valve Disease 1
  • Aortic Valve Disease

  • Bicuspid Aortic Valve

  • Aortic Valve Disorder

  • AOVD1

  • Bav

  • Bicuspid Aortic Valve Disease

  • Familial Bicuspid Aortic Valve

  • Aortic Valve Calcification

  • Aovd

  • Aortic Valve, Bicuspid

  • Aortic Valve, Calcification Of

  • Aortic Stenosis, Calcific

  • Familial Bav

  • Calcific Aortic Stenosis

  • Calcification Of Aortic Valve

  • Abnormality Of The Aortic Valve

  • Aortic Valve Disease, Type 1

  • Aortic Valve Disease 2

  • Bicommissural Aortic Valve

Dental Pulp Disease
  • Dental Pulp Diseases

  • Dental Pulp Disorder

  • Disorder Of Pulp Of Tooth

  • Pulp Disorder

Frontonasal Dysplasia 1
  • Frontorhiny

  • Frontonasal Dysplasia

  • Fnd

  • Frontonasal Malformation

  • Fnm

  • Median Facial Cleft Syndrome

  • Midline Facial Cleft

  • FND1

  • Median Cleft Face Syndrome

  • Median Cleft Syndrome

  • Frontonasal Dysplasia Sequence

  • Median Facial Cleft

  • Tessier Number 0-14 And 30 Facial Cleft

  • Alx3-Related Frontonasal Dysplasia

  • Frontonasal Dysplasia Type 1

  • Isolated Median Cleft Face Syndrome

  • Doid:0081044

  • Doid:0081045

  • Dysplasia, Frontonasal, Type

Cartilage Disease
  • Cartilage Diseases

  • Cartilage

  • Cartilage Disorder

  • Chondropathy

  • Cartilage Disorders

Metatropic Dysplasia
  • Metatropic Dwarfism

  • MTD

  • Metatropic Dysplasia Type 1

  • Metatropic Dysplasia, Nonlethal Dominant

Osteogenic Sarcoma
  • Osteosarcoma

  • OSRC

  • Osteosarcoma, Somatic

  • Neoplasms, Bone Tissue

  • Bone Tissue Neoplasm

  • Osteoid Sarcoma

  • Skeletal Sarcoma

  • Osteosarcoma Of Bone

  • Bone Sarcoma

Periapical Periodontitis
  • Apical Periodontitis

  • Periodontitis Apical

Arteriosclerosis
  • Arteriosclerotic Vascular Disease

Ossification Of The Posterior Longitudinal Ligament Of Spine
  • OPLL

  • Ossification Of The Posterior Longitudinal Ligament Of The Spine

  • Ossification Of Posterior Longitudinal Ligament Of Spine

  • Ossification, Posterior Longitudinal Ligament Spine

Dental Pulp Necrosis
  • Pulp Necrosis

  • Necrotic Pulp

  • Necrosis Of The Pulp

  • Dead Pulp

  • Devitalised Pulp

  • Putrescent Pulpitis

  • Devitalized Tooth

  • Dental Pulp Gangrene

  • Pulp Gangrene

  • Nonvital Tooth

  • Pulpless Tooth

  • Putrescent Pulp

Clear Cell Chondrosarcoma
  • Chondrosarcoma, Clear Cell

Enchondromatosis, Multiple, Ollier Type
  • Ollier Disease

  • Enchondromatosis

  • Dyschondroplasia

  • Osteochondromatosis

  • Multiple Cartilaginous Enchondroses

  • Multiple Enchondromatosis

  • Enchondromatosis With Haemangiomata

  • Enchondromatosis, Multiple

  • Kast'S Syndrome

  • Ollier'S Syndrome

  • Enchondromatosis Multiple

  • ENCHOM

  • Maffucci Disease

  • Olliers Disease

  • Hereditary Multiple Exostoses

  • Chondromatosis

Peripheral Osteosarcoma
  • Surface Osteosarcoma

  • Bone Surface Osteosarcoma

Camurati-Engelmann Disease
  • Progressive Diaphyseal Dysplasia

  • Ced

  • Engelmann Disease

  • Diaphyseal Dysplasia 1, Progressive

  • Pdd

  • Diaphyseal Dysplasia

  • Dpd1

  • Camurati-Engelmann Syndrome

  • CAEND

  • Engelman'S Disease

  • Diaphyseal Hyperostosis

  • Diaphyseal Osteosclerosis

Scoliosis
Osteopetrosis
  • Marble Bone Disease

  • Albers-Schonberg Disease

  • Osteopetroses

  • Marble Bones

  • Osteopetrosis And Related Disorders

  • Congenital Osteopetrosis

  • Marble Bone

  • Albers-Schoenberg Disease

  • Albers-Schonberg Osteopetrosis

  • Osteosclerosis Fragilis

  • Ivory Bones

Van Buchem Disease
  • Hyperostosis Corticalis Generalisata

  • Hyperphosphatasemia Tarda

  • VBCH

  • Sost-Related Sclerosing Bone Dysplasia

  • Endosteal Hyperostosis Autosomal Recessive

  • Sclerosteosis

  • Endosteal Hyperostosis, Autosomal Recessive

  • Hyperotosis Corticalis Generalisata Familiaris

  • Sost Sclerosing Bone Dysplasia

  • Smith-Lemli-Opitz Syndrome

Ankylosis
Apert Syndrome
  • Acrocephalosyndactyly Type I

  • Acs1

  • Acrocephalosyndactylia

  • Acrocephalosyndactyly

  • Acs I

  • Apert-Crouzon Disease

  • Acrocephalosyndactyly Type 1

  • Acrocephalosyndactyly, Type I

  • Acs 1

  • Acrocephalo-Syndactyly Type 1

  • Syndactylic Oxycephaly

  • Apert'S Syndrome

  • Type I Acrocephalosyndactyly

  • APRS

Phosphorus Metabolism Disease
  • Phosphorus Metabolism Disorders

  • Disorder Of Phosphorus Metabolism

  • Phosphorus Disorder

  • Phosphorus Metabolism Disorder

Chronic Apical Periodontitis
  • Apical Periodontitis Nos

  • Apex Periodontitis

  • Periapical Infection Nos

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Synostosis
Bone Giant Cell Tumor
  • Giant Cell Tumor Of Bone

  • Osteoclastoma

  • Gct Of Bone

  • Bone Giant Cell Tumour

  • Giant Cell Myeloma

  • Giant Cell Neoplasm Of Bone

  • Giant Cell Tumour Of Bone

Osteoporosis, Juvenile
  • Idiopathic Juvenile Osteoporosis

  • Idiopathic Osteoporosis

  • Juvenile Osteoporosis

  • Ijo

Mammary Paget'S Disease
  • Paget'S Disease

  • Mammary Paget Disease

  • Paget'S Disease Of The Breast

  • Paget Disease Of The Breast

  • Paget'S Disease Of The Nipple

  • Paget'S Disease, Mammary

  • Paget Cell Neoplasm

  • Paget Disease Of The Nipple

  • Pagets Disease Mammary

  • Osteitis Deformans

Fibrodysplasia Ossificans Progressiva
  • Myositis Ossificans Progressiva

  • Progressive Myositis Ossificans

  • FOP

  • Progressive Ossifying Myositis

  • Myositis Ossificans

  • Stone Man Syndrome

  • Man Of Stone

  • Myositis Ossificans Progressive

  • Diffuse Progressive Ossifying Polymyositis

  • Fibrodysplasia Ossificans Congenita

  • Myositis Ossificans Progressiva, Site Unspecified

  • Münchmeyer Disease

  • Fop - [Fibrodysplasia Ossificans Progressiva]

  • Progressive Myositis Ossificans Calcification

Crouzon Syndrome
  • Crouzon Craniofacial Dysostosis

  • Craniofacial Dysostosis

  • Cfd1

  • Craniofacial Dysostosis Type 1

  • Crouzon Disease

  • Crouzon'S Disease

  • Craniofacial Dysostosis, Type I

  • Craniofacial Dysarthrosis

  • Craniofacial Dysostosis Syndrome

  • CS

  • Craniofacial Dysostosis Type I

  • Vogt Cephalosyndactyly

Brittle Bone Disorder
  • Osteogenesis Imperfecta

  • Brittle Bone Disease

  • Fragilitas Ossium

  • Osteopsathyrosis

  • Lobstein Disease

  • Oi

  • Vrolik Disease

  • Lobstein'S Disease

  • Lobstein'S Syndrome

  • Vrolik'S Disease

  • Porak And Durante Disease

  • Glass Bone Disease

  • Osteogenesis Imperfecta, Dominant Perinatal Lethal

  • Osteogenesis Imperfecta, Recessive Perinatal Lethal

  • Brittle Bone Syndrome

  • Oi - [Osteogenesis Imperfecta]

  • Ossium Fragility

  • Osteitis Fragilitans

  • Bony Fragility

  • Blue Sclera With Fragility Of Bone And Deafness

  • White Blue Sclera - Fragility Of Bone - Deafness

Actinomycosis
  • Actinomycetoma

  • Boil

  • Canaliculitis

  • Actinomycotic Infection

  • Actinomycotic Madura Foot

  • Keratoactinomycosis

  • Furuncle

  • Actinomycotic Mycetema

  • Actinomycotic Mycetoma Of Foot

  • Madura Foot Due To Actinomadura

  • Actinomyces Israeli

  • Actinomycetes

  • Anaerobic Actinomyces Infection

  • Actinomycotic Infection Of Unspecified Site

  • Actinomycosis Nos

  • Actinomycotic Node

  • Actinomyces Infection

  • Actinomycotic Mycetoma

  • Mycetoma Due To Filamentous Bacteria

Arterial Calcification Of Infancy
  • Idiopathic Infantile Arterial Calcification

  • Generalized Arterial Calcification Of Infancy

  • Iiac

  • Occlusive Infantile Arteriopathy

  • Infantile Arteriosclerosis

  • Gaci

  • Idiopathic Obliterative Arteriopathy

  • Generalized Arterial Calcification In Infancy

  • Arteriopathia Calcificans Infantum

  • Diffuse Arterial Calcifying Elastopathy Of Infancy

  • Infantile Calcifying Arteriopathy

  • Medial Coronary Sclerosis Of Infancy

  • Coronary Sclerosis, Medial, Of Infancy

  • Calcification, Arterial, Generalized, Infancy

Exostosis
  • Osteophyte

  • Exostoses

  • Orbital Exostosis

  • Exostosis Of Orbit

  • Bone Spur

  • Bony Outgrowth

  • Swimmer'S Exostosis

  • Osteophytes

  • External Exotoses

  • Cartilaginous Exostosis

Bone Benign Neoplasm
Campomelic Dysplasia
  • Acampomelic Campomelic Dysplasia

  • Camptomelic Dysplasia

  • Campomelic Dysplasia With Autosomal Sex Reversal

  • Cmpd

  • CMD1

  • Cmpd1

  • Cmpd1/Sra1

  • Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

  • Campomelic Dwarfism

  • Campomelic Syndrome

  • Dysplasia, Campomelic

  • Chronic Myeloproliferative Disorder

  • Familial Dilated Cardiomyopathy

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Aortic Valve Disease 2
  • Aortic Valve Stenosis

  • Aortic Stenosis

  • Rheumatic Aortic Stenosis

  • AOVD2

  • Bicuspid Aortic Valve

  • Rheumatic Aortic Valve Stenosis

  • Valvular Aortic Stenosis

  • Aortic Valve Disease, Type 2

  • Aortic Valve Stricture

  • Aortic Valve Obstruction

  • Obstructed Aorta Valve

  • Rheumatic Aortic Obstruction

  • Rheumatic Aortic Valve Obstruction

  • Rheumatic Aortic Stricture

  • Aortic Valve Regurgitation

  • Aortic Insufficiency With Stenosis

  • Rheumatic Aortic Valve Stenosis With Insufficiency

  • Rheumatic Aortic Stenosis With Incompetence

  • Rheumatic Aortic Stenosis With Regurgitation

Brachydactyly, Type A2
  • Brachydactyly Type A2

  • BDA2

  • Mohr-Wriedt Type Brachydactyly

  • Brachymesophalangy Ii

  • Brachymesophalangy Type 2

  • Brachymesophalangy 2

  • Brachydactyly, Mohr-Wriedt Type

  • Brachydactyly A2

Heart Valve Disease
  • Heart Valve Diseases

  • Valvular Heart Disease

  • Valvular Heart Diseases

  • Heart Valve Prolapse

Hepatic Adenomas, Familial
  • Hepatic Adenoma, Somatic

  • Familial Hepatic Adenoma

  • Familial Liver Cell Adenomas

  • Liver Cell Adenomas, Familial

  • Hepatic Adenomas Familial

  • HEPAF

  • Ha

  • Hepatocellular Adenomas

  • Hepatocellular Adenoma

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Bone Sarcoma
Craniometaphyseal Dysplasia, Autosomal Dominant
  • Craniometaphyseal Dysplasia

  • CMDD

  • Cmdj

  • Cmd

  • Autosomal Dominant Craniometaphyseal Dysplasia

  • Craniometaphyseal Dysplasia, Jackson Type

  • Craniometaphyseal Dysplasia Jackson Type

  • Autosomal Recessive Craniometaphyseal Dysplasia

  • Cmdr

  • Dysplasia, Craniometaphyseal, Autosomal Dominant

  • Craniometaphyseal Dysplasia, Autosomal Recessive Type

Bone Osteosarcoma
  • Osteosarcoma Of Bone

  • Primary Osteosarcoma Of Bone

Bone Structure Disease
Yunis-Varon Syndrome
  • Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

  • Yunis Varon Syndrome

  • YVS

  • Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome

  • Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia

  • Yunis-Varón Syndrome

Teeth Hard Tissue Disease
Immunodeficiency 49
  • IMD49

  • Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

  • Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

  • Immunodeficiency 49, Severe Combined

  • Scid, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

  • Severe Combined Immunodeficiency, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

  • Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities

Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Tooth Agenesis
  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth

Orofacial Cleft
  • Cleft, Orofacial

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Robinow Syndrome
  • Acral Dysostosis With Facial And Genital Abnormalities

  • Fetal Face Syndrome

  • Robinow Dwarfism

  • Mesomelic Dwarfism-Small Genitalia Syndrome

  • Robinow-Silverman-Smith Syndrome

  • Costovertebral Segmentation Defect With Mesomelia

  • Covesdem Syndrome

  • Robinow'S Syndrome

  • Robinow-Silverman Syndrome

Diabetes Mellitus
  • Diabetes

Breast Adenocarcinoma
  • Mammary Adenocarcinoma

  • Adenocarcinoma Of Breast

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus RUNX2 MGD MGI:99829
Macaca mulatta RUNX2 VGNC VGNC:76947
Felis catus RUNX2 VGNC VGNC:102510
Rattus norvegicus RUNX2 RGD RGD:2282
Bos taurus RUNX2 VGNC VGNC:34220
Others RUNX2 NCBI