MSX2 - msh homeobox 2 Gene

Also Known as FPP; MSH; PFM; CRS2; HOX8; PFM1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4488

About MSX2

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:174,724,582-174,730,896 (from NCBI)

This gene has 2 transcripts (splice variants), 144 orthologues, 1 paralogue and is associated with 8 phenotypes. Biased expression in placenta (RPKM 16.6), urinary bladder (RPKM 6.4) and 5 other tissues.

Summary

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and Apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the Ras signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]

MSX2 Products (2)

mRNA	Protein	Name
NM_001363626.2	NP_001350555.1	homeobox protein MSX-2 isoform 2
NM_002449.5	NP_002440.2	homeobox protein MSX-2 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12145306	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9073066	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 negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	14671321	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

MSX2 Protein Structure

Homeobox

0
100
200
267 a.a.

Protein Preferred Names	Protein Names
homeobox protein MSX-2	homeobox protein Hox-8

MSX2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MSX2	P35548	CCDC102B	Homo sapiens	Q68D86	Validated Y2H	32296183
Intra	MSX2	P35548	ZFHX3	Homo sapiens	Q15911-2	Validated Y2H	32296183
Intra	MSX2	P35548	YTHDF1	Homo sapiens	Q9BYJ9	Validated Y2H	32296183
Intra	MSX2	P35548	PATZ1	Homo sapiens	Q9HBE1-4	Validated Y2H	32296183
Intra	MSX2	P35548	TLE5	Homo sapiens	Q08117-2	Validated Y2H	32296183
Intra	MSX2	P35548	TCF7L2	Homo sapiens	Q9NQB0-10	Validated Y2H	32296183
Intra	MSX2	P35548	SOX5	Homo sapiens	P35711-4	Validated Y2H	32296183
Intra	MSX2	P35548	VEZF1	Homo sapiens	Q14119	Validated Y2H	32296183
Intra	MSX2	P35548	RBPMS2	Homo sapiens	Q6ZRY4	Validated Y2H	32296183
Intra	MSX2	P35548	POU6F2	Homo sapiens	P78424	Validated Y2H	32296183
Intra	MSX2	P35548	NAF1	Homo sapiens	Q96HR8	Validated Y2H	32296183
Intra	MSX2	P35548	SMAP2	Homo sapiens	Q8WU79	Validated Y2H	32296183
Intra	MSX2	P35548	RHOXF2	Homo sapiens	Q9BQY4	Validated Y2H	32296183
Intra	MSX2	P35548	TSSK3	Homo sapiens	Q96PN8	Validated Y2H	32296183
Intra	MSX2	P35548	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	MSX2	P35548	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	MSX2	P35548	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	MSX2	P35548	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	MSX2	P35548	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	MSX2	P35548	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	MSX2	P35548	ROR2	Homo sapiens	Q01974	Validated Y2H	32296183
Intra	MSX2	P35548	LENG8	Homo sapiens	Q96PV6	Validated Y2H	32296183
Intra	MSX2	P35548	PRR13	Homo sapiens	Q9NZ81	Validated Y2H	32296183
Intra	MSX2	P35548	MAPK1IP1L	Homo sapiens	Q8NDC0	Validated Y2H	32296183
Intra	MSX2	P35548	ZC3H10	Homo sapiens	Q96K80	Validated Y2H	32296183
Intra	MSX2	P35548	TENT5D	Homo sapiens	Q8NEK8	Validated Y2H	32296183
Intra	MSX2	P35548	TOLLIP	Homo sapiens	Q9H0E2	Validated Y2H	32296183
Intra	MSX2	P35548	PITX1	Homo sapiens	P78337	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Craniosynostosis 2	Warman-Mulliken-Hayward Syndrome Craniosynostosis, Type 2 CRS2 Craniosynostosis, Boston-Type Csb Craniosynostosis, Boston Type Craniosynostosis, Warman Type Craniosynostosis Boston Type Craniosynostosis Boston-Type Craniosynostosis Warman Type Craniosynostosis Warman-Type Warman Mulliken Hayward Syndrome
Parietal Foramina With Cleidocranial Dysplasia	PFMCCD Cleidocranial Dysplasia With Parietal Foramina Parietal Foramina With Clavicular Hypoplasia Foramina, Parietal, With Cleidocranial Dysplasia
Parietal Foramina 1	Cranium Bifidum Occultum PFM1 Pfm Parietal Foramina, Symmetric Foramina Parietalia Permagna Fpp Catlin Marks Cranium Bifidum, Hereditary Enlarged Parietal Foramina
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
Warman Mulliken Hayward Syndrome	Craniosynostosis Warman Type Craniosynostosis Boston Type
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
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
Exencephaly
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
Synostosis
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
Dentin Dysplasia	Dentinal Dysplasia Dd Dysplasia, Dentin Shell Teeth
Hypertelorism, Microtia, Facial Clefting Syndrome	Hmc Syndrome Bixler Christian Gorlin Syndrome Bixler-Christian-Gorlin Syndrome Hypertelorism-Microtia-Facial Clefting Syndrome Bixler Syndrome Hypertelorism-Microtia-Clefting Syndrome Hypertelorism Microtia Facial Clefting Syndrome
Headache	Headache Disorder
Jackson-Weiss Syndrome	JWS Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
Muenke Syndrome	Muenke Nonsyndromic Coronal Craniosynostosis Fgfr3-Related Craniosynostosis Fgfr3-Associated Coronal Synostosis Coronal Craniosynostosis MNKES Syndrome Of Coronal Craniosynostosis MNKS Fgfr3-Related Isolated Coronal Synostosis Muenke Non-Syndromic Coronal Craniosynostosis
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
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
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Bone Development Disease
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
Baastrup'S Syndrome	Kissing Spine Baastrup Syndrome Kissing Spine, Site Unspecified Osteoarthrosis Interspinalis Overriding Of Dorsal Spinous Processes Localised Idiopathic Skeletal Hyperostosis Baastrup Disease
Trichodentoosseous Syndrome	Tricho-Dento-Osseous Syndrome Tdo Syndrome Trichodontoosseous Syndrome TDO Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
Craniofrontonasal Syndrome	Craniofrontonasal Dysplasia CFNS Cfnd Craniofrontonasal Dysostosis Craniofrontonasal Dystosis Dysplasia, Craniofrontonasal
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2
Dysostosis	Dysostoses
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Craniofacial Microsomia	Goldenhar Syndrome Hemifacial Microsomia Oculoauriculovertebral Spectrum Oavs Oculo-Auriculo-Vertebral Spectrum CFM Oav Dysplasia Facioauriculovertebral Sequence Fav Sequence First And Second Branchial Arch Syndrome Otomandibular Dysostosis Hfm Oculoauriculovertebral Dysplasia Facio-Auriculo-Vertebral Spectrum Facioauriculovertebral Dysplasia Oculo-Auriculo-Vertebral Dysplasia First Arch Syndrome Oav Dysplasia Goldenhar Disease Expanded Spectrum Hemifacial Microsomia Expanded Spectrum Of Hemifacial Microsomia Oculoauriculovertebral Syndrome Oavd Asymmetric Hypoplasia Of Facial Structures Auriculobranchiogenic Dysplasia Fav First And Second Pharyngeal Arch Syndromes Goldenhar-Gorlin Syndrome Lateral Facial Dysplasia Oav Complex Oral-Mandibular-Auricular Syndrome Unilateral Intrauterine Facial Necrosis Unilateral Mandibulofacial Dysostosis Oav Spectrum Oculoauricular Vertebral Dysplasia Microsomia, Hemifacial Goldenhar Syndrome With Ipsilateral Radial Defect
Pfeiffer Syndrome	Infectious Mononucleosis Acs5 Craniofacial-Skeletal-Dermatologic Dysplasia Acs V Noack Syndrome Gammaherpesviral Mononucleosis Acrocephalosyndactyly Type 5 Pfeiffer Syndrome Type 3 Acrocephalosyndactyly, Type V Glandular Fever Pfeiffer Type Acrocephalosyndactyly Pfeiffer Syndrome Type 2 Acrocephalosyndactylia Type V Filatov'S Disease Monocytic Angina Mononucleosis Pfeiffer'S Disease Acsv Acrocephalosyndactyly, Type 5 Craniofacial-Skeletal-Dermatologic Syndrome Pfeiffer Syndrome Type 1 Classic Pfeiffer Syndrome PS Pfeiffer Syndrome Variant Dysplasia, Craniofacial-Skeletal-Dermatologic Pfeiffer Kissing Disease Infectious Adenitis Pfeiffer Disease
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
Orofacial Cleft	Cleft, Orofacial
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
Carpenter Syndrome 1	Carpenter Syndrome Acrocephalopolysyndactyly Type Ii Acps Ii CRPT1 Acrocephalopolysyndactyly Type 2 Acrocephalosyndactyly, Type Ii Acrocephalopolysyndactyly 2 Acps2 Acps 2 Type Ii Acrocephalosyndactyly Carpenter Syndrome, Type 1 Apert-Crouzon Disease
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
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-102086	MSX3		/	Unkown
HY-117184	MSX-2	Antagonist	/	Unkown
HY-RS08734	MSX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21379	Msx2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27898	Msx2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MSX2	VGNC	VGNC:84448
Mus musculus	MSX2	MGD	MGI:97169
Felis catus	MSX2	VGNC	VGNC:102257
Rattus norvegicus	MSX2	RGD	RGD:3116
Bos taurus	MSX2	VGNC	VGNC:31712
Canis familiaris	MSX2	VGNC	VGNC:43455
Others	MSX2	NCBI