Details for: MSX2

Gene ID: 4488

Symbol: MSX2

Ensembl ID: ENSG00000120149

Description: msh homeobox 2

Associated with

  • Gene expression (transcription)
    (R-HSA-74160)
  • Generic transcription pathway
    (R-HSA-212436)
  • Regulation of runx2 expression and activity
    (R-HSA-8939902)
  • Rna polymerase ii transcription
    (R-HSA-73857)
  • Transcriptional regulation by runx2
    (R-HSA-8878166)
  • Activation of meiosis
    (GO:0090427)
  • Anterior/posterior pattern specification
    (GO:0009952)
  • Bmp signaling pathway
    (GO:0030509)
  • Bone trabecula formation
    (GO:0060346)
  • Branching involved in mammary gland duct morphogenesis
    (GO:0060444)
  • Cardiac conduction system development
    (GO:0003161)
  • Cell surface receptor signaling pathway involved in heart development
    (GO:0061311)
  • Cellular response to estradiol stimulus
    (GO:0071392)
  • Chondrocyte development
    (GO:0002063)
  • Chromatin
    (GO:0000785)
  • Cranial suture morphogenesis
    (GO:0060363)
  • Cytosol
    (GO:0005829)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-binding transcription repressor activity, rna polymerase ii-specific
    (GO:0001227)
  • Embryonic forelimb morphogenesis
    (GO:0035115)
  • Embryonic hindlimb morphogenesis
    (GO:0035116)
  • Embryonic morphogenesis
    (GO:0048598)
  • Embryonic nail plate morphogenesis
    (GO:0035880)
  • Enamel mineralization
    (GO:0070166)
  • Endochondral bone growth
    (GO:0003416)
  • Epithelial to mesenchymal transition involved in endocardial cushion formation
    (GO:0003198)
  • Frontal suture morphogenesis
    (GO:0060364)
  • Mesenchymal cell apoptotic process
    (GO:0097152)
  • Negative regulation of apoptotic process
    (GO:0043066)
  • Negative regulation of cell population proliferation
    (GO:0008285)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Negative regulation of fat cell differentiation
    (GO:0045599)
  • Negative regulation of keratinocyte differentiation
    (GO:0045617)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nuclear speck
    (GO:0016607)
  • Nucleus
    (GO:0005634)
  • Osteoblast development
    (GO:0002076)
  • Osteoblast differentiation
    (GO:0001649)
  • Outflow tract septum morphogenesis
    (GO:0003148)
  • Positive regulation of bmp signaling pathway
    (GO:0030513)
  • Positive regulation of mesenchymal cell apoptotic process
    (GO:2001055)
  • Positive regulation of osteoblast differentiation
    (GO:0045669)
  • Positive regulation of timing of catagen
    (GO:0051795)
  • Protein binding
    (GO:0005515)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific dna binding
    (GO:0043565)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Signal transduction involved in regulation of gene expression
    (GO:0023019)
  • Stem cell differentiation
    (GO:0048863)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Transcription regulator complex
    (GO:0005667)
  • Wound healing, spreading of epidermal cells
    (GO:0035313)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 24.7986
    Cell Significance Index: -6.2900
  • Cell Name: granular cell of epidermis (CL0002189)
    Fold Change: 11.5360
    Cell Significance Index: 13.2800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 9.3514
    Cell Significance Index: 485.7800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 5.8405
    Cell Significance Index: 155.9500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 2.7630
    Cell Significance Index: 354.2000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.8830
    Cell Significance Index: 17.3400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.5940
    Cell Significance Index: -6.2900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.2047
    Cell Significance Index: 29.1800
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 1.0237
    Cell Significance Index: 6.3000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0069
    Cell Significance Index: 191.6200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8261
    Cell Significance Index: 148.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7460
    Cell Significance Index: 86.9400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6697
    Cell Significance Index: 66.2500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5489
    Cell Significance Index: 67.5000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5279
    Cell Significance Index: 476.6900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3924
    Cell Significance Index: 42.6800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3624
    Cell Significance Index: 21.7600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3518
    Cell Significance Index: 57.2100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2848
    Cell Significance Index: 6.1700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2558
    Cell Significance Index: 3.4900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2232
    Cell Significance Index: 98.6700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.2093
    Cell Significance Index: 2.9800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2058
    Cell Significance Index: 5.9300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2039
    Cell Significance Index: 14.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1950
    Cell Significance Index: 106.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1701
    Cell Significance Index: 7.7100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1267
    Cell Significance Index: 25.1400
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.1247
    Cell Significance Index: 1.7300
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.0924
    Cell Significance Index: 1.1900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0731
    Cell Significance Index: 1.9900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0535
    Cell Significance Index: 1.1400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.0470
    Cell Significance Index: 0.3600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0455
    Cell Significance Index: 1.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0449
    Cell Significance Index: 0.9400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0419
    Cell Significance Index: 0.6700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0311
    Cell Significance Index: 2.3200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0133
    Cell Significance Index: 20.4400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0089
    Cell Significance Index: 16.4700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0042
    Cell Significance Index: 0.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0040
    Cell Significance Index: 5.4200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0028
    Cell Significance Index: 0.0700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0024
    Cell Significance Index: 0.0500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0008
    Cell Significance Index: 0.0300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0003
    Cell Significance Index: 0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0030
    Cell Significance Index: -5.5800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0054
    Cell Significance Index: -0.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0063
    Cell Significance Index: -4.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0073
    Cell Significance Index: -5.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0075
    Cell Significance Index: -5.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0078
    Cell Significance Index: -5.7100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0096
    Cell Significance Index: -5.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0118
    Cell Significance Index: -5.3500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0146
    Cell Significance Index: -2.0000
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0185
    Cell Significance Index: -0.2400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0187
    Cell Significance Index: -0.8800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0187
    Cell Significance Index: -0.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0204
    Cell Significance Index: -1.2500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0246
    Cell Significance Index: -4.2000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0259
    Cell Significance Index: -5.4600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0294
    Cell Significance Index: -5.8900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0305
    Cell Significance Index: -0.2900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0312
    Cell Significance Index: -3.1900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0338
    Cell Significance Index: -0.3500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0386
    Cell Significance Index: -4.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0395
    Cell Significance Index: -4.5300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0590
    Cell Significance Index: -6.1400
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.0594
    Cell Significance Index: -0.6200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0638
    Cell Significance Index: -4.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0740
    Cell Significance Index: -5.6800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0800
    Cell Significance Index: -3.7300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0807
    Cell Significance Index: -3.5100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0850
    Cell Significance Index: -2.1200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0877
    Cell Significance Index: -5.9000
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0966
    Cell Significance Index: -0.6300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0985
    Cell Significance Index: -6.0600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0999
    Cell Significance Index: -1.4300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1025
    Cell Significance Index: -5.3400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1075
    Cell Significance Index: -6.0300
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1119
    Cell Significance Index: -1.2300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1126
    Cell Significance Index: -1.5800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1131
    Cell Significance Index: -3.9300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1225
    Cell Significance Index: -6.4300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1351
    Cell Significance Index: -3.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1352
    Cell Significance Index: -5.9800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1464
    Cell Significance Index: -1.6600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1583
    Cell Significance Index: -5.8100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1608
    Cell Significance Index: -4.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1616
    Cell Significance Index: -6.1200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1691
    Cell Significance Index: -4.5300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1700
    Cell Significance Index: -4.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1723
    Cell Significance Index: -5.6400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1790
    Cell Significance Index: -6.2700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1825
    Cell Significance Index: -2.6500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1832
    Cell Significance Index: -4.7100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1838
    Cell Significance Index: -2.7700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1849
    Cell Significance Index: -5.8900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1890
    Cell Significance Index: -4.7200
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: -0.1902
    Cell Significance Index: -2.1900
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.2047
    Cell Significance Index: -2.3800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2075
    Cell Significance Index: -5.9200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The MSX2 gene is a transcription factor that belongs to the homeobox family, which is involved in regulating gene expression during development and tissue homeostasis. It is highly expressed in various tissues, including the placenta, bladder, glandular epithelium, hematopoietic stem cells, and germ cells. The MSX2 protein is a transcription factor that binds to specific DNA sequences, regulating the expression of target genes involved in cell proliferation, differentiation, and survival. **Pathways and Functions** MSX2 is involved in several signaling pathways, including: 1. **BMP signaling pathway**: MSX2 is a positive regulator of the BMP (Bone Morphogenetic Protein) signaling pathway, which is crucial for embryonic development, bone formation, and tissue patterning. 2. **Cell surface receptor signaling pathway involved in heart development**: MSX2 is also involved in the regulation of cardiac conduction system development and is expressed in cardiac tissue during embryonic development. 3. **Chondrocyte development**: MSX2 is essential for the development and differentiation of chondrocytes, the cells responsible for cartilage formation. 4. **Epithelial-to-mesenchymal transition (EMT)**: MSX2 is involved in the regulation of EMT, a process that is critical for tissue development and repair. MSX2 functions as a transcription factor that regulates the expression of target genes involved in: 1. **Cell proliferation**: MSX2 regulates the expression of genes involved in cell proliferation, including the BMP signaling pathway. 2. **Differentiation**: MSX2 is involved in the regulation of differentiation processes, including chondrocyte differentiation and epithelial-to-mesenchymal transition. 3. **Apoptosis**: MSX2 regulates the expression of genes involved in apoptosis, including the regulation of mesenchymal cell apoptosis. **Clinical Significance** Dysregulation of the MSX2 gene has been implicated in various diseases and disorders, including: 1. **Congenital heart defects**: Mutations in the MSX2 gene have been associated with congenital heart defects, including atrial septal defects and ventricular septal defects. 2. **Bone disorders**: MSX2 is involved in bone development and homeostasis, and dysregulation of the gene has been implicated in bone disorders, including osteoporosis and bone cancer. 3. **Cancer**: MSX2 is also involved in cancer development and progression, particularly in tissues such as the bladder and colon. In conclusion, the MSX2 gene plays a critical role in various developmental processes and tissue homeostasis. Its dysregulation has been implicated in various diseases and disorders, highlighting the importance of further research into the functions and clinical significance of this gene.

Genular Protein ID: 3436318966

Symbol: MSX2_HUMAN

Name: Homeobox protein MSX-2

UniProtKB Accession Codes:

P35548 D3DQN1 Q53XM4 Q9UD60

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 1 ExpressionAtlas 1 GO 48 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8101453

Title: Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells.

PubMed ID: 8101453

DOI: 10.1016/0167-4781(93)90086-s

PubMed ID: 8106171

Title: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.

PubMed ID: 8106171

DOI: 10.1016/0092-8674(93)90379-5

PubMed ID: 7897272

Title: Molecular cloning and expression of homeobox-containing genes during hard tissue development.

PubMed ID: 7897272

DOI: 10.5357/koubyou.61.590

PubMed ID: 9522127

Title: Characterization of two length cDNA for human MSX-2 from dental pulp-derived cells.

PubMed ID: 9522127

DOI: 10.3109/10425179709020891

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7687426

Title: Over-expression of HOX-8, the human homologue of the mouse Hox-8 homeobox gene, in human tumors.

PubMed ID: 7687426

DOI: 10.1006/bbrc.1993.1802

PubMed ID: 7518789

Title: Identification of homeobox genes expressed in human haemopoietic progenitor cells.

PubMed ID: 7518789

DOI: 10.1016/0378-1119(94)90380-8

PubMed ID: 12145306

Title: Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex.

PubMed ID: 12145306

DOI: 10.1074/jbc.m206482200

PubMed ID: 14571277

Title: Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.

PubMed ID: 14571277

DOI: 10.1038/sj.ejhg.5201062

PubMed ID: 10767351

Title: Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

PubMed ID: 10767351

DOI: 10.1093/hmg/9.8.1251

PubMed ID: 10742103

Title: Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.

PubMed ID: 10742103

DOI: 10.1038/74224

PubMed ID: 23918290

Title: Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

PubMed ID: 23918290

DOI: 10.1002/ajmg.a.36077

PubMed ID: 23949913

Title: Boston type craniosynostosis: report of a second mutation in MSX2.

PubMed ID: 23949913

DOI: 10.1002/ajmg.a.36126

Sequence Information:

  • Length: 267
  • Mass: 28897
  • Checksum: 5B61B75F4A7C4AFD
  • Sequence:
    • MASPSKGNDL FSPDEEGPAV VAGPGPGPGG AEGAAEERRV KVSSLPFSVE ALMSDKKPPK 
EASPLPAESA SAGATLRPLL LSGHGAREAH SPGPLVKPFE TASVKSENSE DGAAWMQEPG 
RYSPPPRHMS PTTCTLRKHK TNRKPRTPFT TSQLLALERK FRQKQYLSIA ERAEFSSSLN 
LTETQVKIWF QNRRAKAKRL QEAELEKLKM AAKPMLPSSF SLPFPISSPL QAASIYGASY 
PFHRPVLPIP PVGLYATPVG YGMYHLS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.