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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 a... See more...
Aliases for MSX2 Gene
Aliases for MSX2 Gene
External Ids for MSX2 Gene
- HGNC: 7392
- Entrez Gene: 4488
- Ensembl: ENSG00000120149
- OMIM: 123101
- UniProtKB: P35548
Previous HGNC Symbols for MSX2 Gene
- PFM1
Previous GeneCards Identifiers for MSX2 Gene
- GC05P174439
- GC05P174884
- GC05P174087
- GC05P174132
- GC05P174084
- GC05P169247
Summaries for MSX2 Gene
-
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]
GeneCards Summary for MSX2 Gene
MSX2 (Msh Homeobox 2) is a Protein Coding gene. Diseases associated with MSX2 include Craniosynostosis 2 and Parietal Foramina With Cleidocranial Dysplasia. Among its related pathways are Neural Crest Differentiation and Human T-cell leukemia virus 1 infection. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is MSX1.
UniProtKB/Swiss-Prot Summary for MSX2 Gene
-
Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter.
Additional gene information for MSX2 Gene
- Monarch Initiative
- Search for MSX2 at DataMed
- Search for MSX2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MSX2 Gene
Genomics for MSX2 Gene
GeneHancer (GH) Regulatory Elements for MSX2 Gene
Promoters and enhancers for MSX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MSX2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MSX2 gene promoter:
-
- AP-1
- c-Jun
- MyoD
- SRF
- SRF (504 AA)
Genomic Locations for MSX2 Gene
Genomic Locations for MSX2 Gene
- chr5:174,724,572-174,730,899
- (GRCh38/hg38)
- Size:
- 6,328 bases
- Orientation:
- Plus strand
- chr5:174,151,536-174,157,902
- (GRCh37/hg19)
- Size:
- 6,367 bases
- Orientation:
- Plus strand
Genomic View for MSX2 Gene
Genes around MSX2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q35.2 by HGNC
- 5q35.2 by Entrez Gene
- 5q35.2 by Ensembl
MSX2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MSX2 Gene
Proteins for MSX2 Gene
-
Protein details for MSX2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35548-MSX2_HUMAN
- Recommended name:
- Homeobox protein MSX-2
- Protein Accession:
- P35548
- D3DQN1
- Q53XM4
- Q9UD60
Protein attributes for MSX2 Gene
- Size:
- 267 amino acids
- Molecular mass:
- 28897 Da
- Quaternary structure:
-
- Interacts with MINT (By similarity). Interacts with XRCC6 (Ku70) and XRCC5 (Ku80).
Protein Expression for MSX2 Gene
Post-translational modifications for MSX2 Gene
Other Protein References for MSX2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ MSX2 Antibody
- Atlas Antibodies Anti-MSX2 Antibody
-
Creative Biolabs
- Mouse Anti-MSX2 Recombinant Antibody (CBFYM-2696)
- Mouse Anti-MSX2 Recombinant Antibody (CBFYM-0740)
- Mouse Anti-MSX2 Recombinant Antibody (CBFYM-2701)
- Mouse Anti-MSX2 (AA 2-132) Recombinant Antibody (CBFYM-2698)
- Mouse Anti-MSX2 (AA 101-201) Recombinant Antibody (CBFYM-2699)
- Mouse Anti-MSX2 (AA 1-133) Recombinant Antibody (CBFYM-2695)
- Mouse Anti-MSX2 (AA 1-77) Recombinant Antibody (CBFYM-2697)
- Mouse Anti-MSX2 (N-terminus) Recombinant Antibody (CBFYM-2700)
- Recombinant Mouse Anti-Human MSX2 Antibody (clone 2G7)
-
Custom Antibody ServicesOriGene Antibodies for MSX2
- Novus Biologicals Antibodies for MSX2
-
Abcam antibodies for MSX2
- Invitrogen Antibodies for MSX2 (AFLGC-MSX2)
- antibodies-online: Show 37 available Msx2 Antibodies ranked by validation data
-
Santa Cruz Biotechnology (SCBT) Antibodies for MSX2
Protein Products
- Atlas Antibodies PrEST Antigen MSX2
- Creative Diagnostics Human MSX2 peptide
-
OriGene Purified Proteins for MSX2
- Search Origene for MassSpec and Protein Over-expression Lysates for MSX2
- Origene Custom Protein Services for MSX2
- antibodies-online: Search results for available Msx2 related products ranked by validation data
-
Abcam proteins for MSX2
Assay Products
- Creative Diagnostics Human MSX2 ELISA Matched Antibody Pair
- antibodies-online: Search results for available Msx2 related products ranked by validation data
No data available for DME Specific Peptides for MSX2 Gene
Domains & Families for MSX2 Gene
Gene Families for MSX2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for MSX2 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MSX2 Gene
- GenScript: Design optimal peptide antigens:
-
- Homeobox protein Hox-8 (MSX2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35548- Family:
-
- Belongs to the Msh homeobox family.
Function for MSX2 Gene
Molecular function for MSX2 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter.
- GENATLAS Biochemistry:
- Drosophila,muscle segment (msh) homolog 2,homeo domain encoding gene,expressed in developing teeth and various tumors of mesenchymal origin,also expressed in extra-embryonic tissues such as placenta,involved in epithelial-mesenchymal signaling in many organs,interacting with MSX1 in mouse limb bud patterning through BMP4 regulation,involved in the enhancing of parietal bone growth
Phenotypes From GWAS Catalog for MSX2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA,IEA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | NAS | 19274049 |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003712 | transcription coregulator activity | IEA,ISS | -- |
Phenotypes for MSX2 Gene
- MGI mutant phenotypes for MSX2:
-
inferred from 6 alleles
- cardiovascular system phenotype
- limbs/digits/tail phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- muscle phenotype
- craniofacial phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for MSX2:
Animal Models for MSX2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for MSX2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSX2
- genomics-online: gRNA clones - Search results for available Msx2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for MSX2 - Select products 50% OFF >
- * MSX2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * MSX2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSX2
miRNA for MSX2 Gene
- miRTarBase miRNAs that target MSX2
-
- hsa-mir-5196-5p (MIRT491434)
- hsa-mir-4747-5p (MIRT491435)
- hsa-mir-4533 (MIRT491436)
- hsa-mir-3195 (MIRT491437)
- hsa-mir-6806-3p (MIRT491438)
- hsa-mir-1252-5p (MIRT491439)
- hsa-mir-3928-5p (MIRT491440)
- hsa-mir-6792-3p (MIRT641651)
- hsa-mir-4691-5p (MIRT641652)
- hsa-mir-6879-3p (MIRT641653)
- hsa-mir-6773-3p (MIRT641654)
- hsa-mir-6787-3p (MIRT641655)
- hsa-mir-587 (MIRT650547)
- hsa-mir-503-3p (MIRT724809)
- hsa-mir-3692-3p (MIRT724810)
- hsa-mir-3686 (MIRT724811)
- hsa-mir-4436b-5p (MIRT724812)
- hsa-mir-6509-3p (MIRT724813)
- hsa-mir-2277-3p (MIRT724814)
- hsa-mir-4742-3p (MIRT724815)
- hsa-mir-4526 (MIRT724816)
- hsa-mir-3660 (MIRT724817)
- hsa-mir-1273g-3p (MIRT724818)
- hsa-mir-181a-2-3p (MIRT724819)
- hsa-mir-4277 (MIRT724820)
- hsa-mir-6874-3p (MIRT724821)
- hsa-mir-148b-5p (MIRT724822)
- hsa-mir-4293 (MIRT724823)
- hsa-mir-615-5p (MIRT752493)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MSX2
- Browse OriGene Inhibitory RNA Products For MSX2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSX2
- genomics-online: shRNA clones - Search results for available Msx2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MSX2
- Addgene plasmids for MSX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSX2
- genomics-online: cdna clones - Search results for available Msx2 gene related products
- orf clones - Search results for available Msx2 gene related products
- Applied Biological Materials (abm): Clones for MSX2 - Select products 50% OFF >
- * MSX2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * MSX2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for MSX2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MSX2 Gene
Localization for MSX2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MSX2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| extracellular | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
- Nuclear speckles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0016607 | nuclear speck | IDA | -- |
Pathways & Interactions for MSX2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Human T-cell leukemia virus 1 infection | ||
| 2 | Neural Crest Differentiation | ||
Pathways by source for MSX2 Gene
1 BioSystems pathway for MSX2 Gene
1 KEGG pathway for MSX2 Gene
Interacting Proteins for MSX2 Gene
GPS-Prot Interaction Network for MSX2
SIGNOR curated interactions for MSX2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
| GO:0001503 | ossification | IEA | -- |
| GO:0001649 | osteoblast differentiation | IEA,ISS | -- |
| GO:0002063 | chondrocyte development | IEA | -- |
| GO:0002076 | osteoblast development | IEA | -- |
Drugs & Compounds for MSX2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| a-MSH, amide | Pharma | Melanocyte-stimulating hormones | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(1) ApexBio Compounds for MSX2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| a-MSH, amide | Melanocyte-stimulating hormones |
Drug Products
- Atlas Antibodies PrEST Antigen MSX2
- Creative Diagnostics Human MSX2 peptide
- ApexBio compounds for MSX2
Transcripts for MSX2 Gene
mRNA/cDNA for MSX2 Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (61) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000239243 2195 bps (ENST00000239243.6)
- ENST00000507785 1188 bps (ENST00000507785.2)
CRISPR Products
-
OriGene CRISPR knockouts for MSX2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSX2
- genomics-online: gRNA clones - Search results for available Msx2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for MSX2 - Select products 50% OFF >
- * MSX2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * MSX2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSX2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MSX2
- Browse OriGene Inhibitory RNA Products For MSX2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSX2
- genomics-online: shRNA clones - Search results for available Msx2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MSX2
- Addgene plasmids for MSX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSX2
- genomics-online: cdna clones - Search results for available Msx2 gene related products
- orf clones - Search results for available Msx2 gene related products
- Applied Biological Materials (abm): Clones for MSX2 - Select products 50% OFF >
- * MSX2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * MSX2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||
| SP2: |
Expression for MSX2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Fusing Suture Cells Rostral Sutures
- Endochondral Osteocytes Endochondral Facial Bones
- Prechondrocytic Mesenchymal Cells Dorsal Neural Arch
- Endochondral Osteocytes Autopod Periosteum
- Endochondral Osteoblasts Rostral Endochondral Facial Bones
-
Tooth (Integumentary System)
- Cementoblasts Cementum
- Secondary Enamel Knot Cells Enamel Knot
- Dental Placode Cells Dental Placode
- Dental Papilla Cells Dental Papilla
- Primary Enamel Knot Cells Enamel Knot
-
Cartilage (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Dorsal Neural Arch
- Prechondrocytic Mesenchymal Cells Spinous Process Of Vertebrae
- Prechondrocytic Mesenchymal Cells Annulus Fibrosus
- Prechondrocytic Mesenchymal Cells Vertebral Body
- Progress Zone Cells Limb Bud
-
Neural Crest (Gastrulation Derivatives)
- Cardiac Neural Crest Cells Branchial Arch 3,4,6
- Neural Crest Outflow Tract Cells Outflow Tract
- Cranial Neural Crest Cells Cranial Neural Crest
- Cranial Neural Crest Cells Branchial Arch 1
- PureStem 4D20.8, NCr-fac Progenitor
-
Epithelial Cells
- Dental Placode Cells Dental Placode
- Fetal Corneal Basal Epithelial Cells Corneal Epithelium
- Fetal Hair Shaft Cuticle Cells Hair Shaft
- Fetal Medulla Cells Hair Shaft
- Outer Enamel Epithelial Cells Dental Enamel
-
Head Mesenchyme (Muscoskeletal System)
- Cardiac Neural Crest Cells Branchial Arch 3,4,6
- Dental Mesenchymal Cells Branchial Arch 1
- Cranial Neural Crest Cells Branchial Arch 1
- Branchial Arch 1
- Branchial Arch 2
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
- Progress Zone Cells Limb Bud
- Prechondrocytic Mesenchymal Cells Zeugopod
- Limb Bud Mesenchyme Cells Limb Bud
- Autopod
-
Heart (Cardiovascular System)
- Neural Crest Outflow Tract Cells Outflow Tract
- Atrioventricular Canal Cells Atrioventricular Canal
- Heart Tube
- Cardiomyocyte-like progenitor cells(Uosaki H et. al. 2011)
- NULL (Uncategorized)
-
Eye (Sensory Organs)
- Fetal Corneal Basal Epithelial Cells Corneal Epithelium
- Fetal Limbal Epithelial Cells Limbus Epithelium
- Corneal Epithelium
-
Hair (Integumentary System)
- Fetal Hair Shaft Cuticle Cells Hair Shaft
- Fetal Medulla Cells Hair Shaft
- Fetal Cortex Cells Hair Shaft
- Neural Tube (Nervous System)
- Mesoderm (Gastrulation Derivatives)
-
Intermediate Mesoderm (Gastrulation Derivatives)
- Mesonephric cells Mesonephros
- Mesonephros
-
Gonad
- Mesonephric cells Mesonephros
- Primordial Germ Cells Allantois
- Inner Cell Mass (Early Embryonic Tissues)
-
Neural Ectoderm (Nervous System)
- Neural Plate Border Cells Neural Plate Border
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
- Brain (Nervous System)
- Dermis (Integumentary System)
mRNA differential expression in normal tissues according to GTEx for MSX2 Gene
This gene is overexpressed in Bladder (x8.1), Artery - Tibial (x5.4), and Skin - Not Sun Exposed (Suprapubic) (x5.0).
This gene is overexpressed in Placenta (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MSX2 Gene
NURSA nuclear receptor signaling pathways regulating expression of MSX2 Gene:
MSX2SOURCE GeneReport for Unigene cluster for MSX2 Gene:
Hs.89404Evidence on tissue expression from TISSUES for MSX2 Gene
- Bone(4.5)
- Bone marrow(4.2)
- Pancreas(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MSX2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- neck
- scalp
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood vessel
- hair
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for MSX2
-
OriGene qPCR primer pairs and template standards for MSX2
- genomics-online: primer clones - Search results for available Msx2 gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for MSX2 Gene
Orthologs for MSX2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MSX2 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MSX2 33 32 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MSX2 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MSX2 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Msx2 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Msx2 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MSX2 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MSX2 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MSX2 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | msx2 32 |
|
||
| LOC394987 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | msx2-A 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | msxd 33 32 |
|
OneToMany | |
| msxa 33 |
|
OneToMany | |||
| -- 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Dr 33 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | vab-15 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
| Cin.9618 32 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9618 32 |
|
- Species where no ortholog for MSX2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for MSX2 Gene
- ENSEMBL:
- Gene Tree for MSX2 (if available)
- TreeFam:
- Gene Tree for MSX2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MSX2: view image
Paralogs for MSX2 Gene
(1) SIMAP similar genes for MSX2 Gene using alignment to 2 proteins:
- MSX2_HUMAN
- D6RIS4_HUMAN
Pseudogenes.org Pseudogenes for MSX2 Gene
Variants for MSX2 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10038500 | likely-benign, Craniosynostosis, Enlarged parietal foramina | 174,729,999(+) | A/C | 3_prime_UTR_variant | |
| rs10044147 | likely-benign, Enlarged parietal foramina, Craniosynostosis | 174,730,241(+) | C/T | 3_prime_UTR_variant | |
| rs104893895 | pathogenic, likely-pathogenic, Craniosynostosis 2, Enlarged parietal foramina, Craniosynostosis 2 (CRS2) [MIM:604757], Craniosynostosis 2 (CRS2) [MIM:604757] | 174,729,222(+) | C/A/T | 3_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs104893896 | pathogenic, Parietal foramina 1, Parietal foramina 1 (PFM1) [MIM:168500] | 174,729,294(+) | G/A | 3_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs114567531 | likely-benign, Craniosynostosis, Enlarged parietal foramina | 174,729,932(+) | T/C | 3_prime_UTR_variant |
Residual Variation Intolerance Score:
26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.60;
12.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MSX2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MSX2 Gene
Disorders for MSX2 Gene
(20) MalaCards diseases for MSX2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| craniosynostosis 2 |
|
|
| parietal foramina with cleidocranial dysplasia |
|
|
| parietal foramina 1 |
|
|
| parietal foramina |
|
|
| cleidocranial dysplasia |
|
Search MSX2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MSX2_HUMAN- Parietal foramina 1 (PFM1) [MIM:168500]: Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. {ECO:0000269 PubMed:10742103, ECO:0000269 PubMed:10767351}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Parietal foramina with cleidocranial dysplasia (PFMCCD) [MIM:168550]: Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles. {ECO:0000269 PubMed:14571277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Craniosynostosis 2 (CRS2) [MIM:604757]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. {ECO:0000269 PubMed:23918290, ECO:0000269 PubMed:23949913, ECO:0000269 PubMed:8106171}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MSX2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MSX2 Gene
Publications for MSX2 Gene
- Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese. (PMID: 18299954) Furuichi T … Ikegawa S (Journal of human genetics 2008) 3 23 43 56
- Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. (PMID: 14571277) Garcia-Miñaur S … Wilkie AO (European journal of human genetics : EJHG 2003) 3 4 23 56
- Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PMID: 12145306) Willis DM … Towler DA (The Journal of biological chemistry 2002) 3 4 23 56
- Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. (PMID: 10767351) Wuyts W … Van Hul W (Human molecular genetics 2000) 3 4 23 56
- Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. (PMID: 10742103) Wilkie AO … Maxson RE (Nature genetics 2000) 3 4 23 56
ExternalLinks
Products for MSX2 Gene
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Sources for MSX2 Gene
- (1) GeneCards
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