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Protein

Homeobox protein MSX-2

Gene

MSX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antogonizes 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.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi142 – 201HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processOsteogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8939902. Regulation of RUNX2 expression and activity.
SIGNORiP35548.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein MSX-2
Alternative name(s):
Homeobox protein Hox-8
Gene namesi
Name:MSX2
Synonyms:HOX8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000120149.8.
HGNCiHGNC:7392. MSX2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Parietal foramina 1 (PFM1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:168500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010786154L → P in PFM1. 1 Publication1
Natural variantiVAR_010200159 – 160Missing in PFM1; loss of function. 1 Publication2
Natural variantiVAR_010201172R → H in PFM1; loss of function. 2 PublicationsCorresponds to variant dbSNP:rs104893896Ensembl.1
Parietal foramina with cleidocranial dysplasia (PFMCCD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCombines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.
See also OMIM:168550
Craniosynostosis 2 (CRS2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604757
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003755148P → H in CRS2; gain of function. 1 PublicationCorresponds to variant dbSNP:rs104893895Ensembl.1
Natural variantiVAR_071634148P → L in CRS2. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi147T → A: Does not bind DNA but still suppresses OCFRE activation. 1 Publication1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi4488.
GeneReviewsiMSX2.
MalaCardsiMSX2.
MIMi168500. phenotype.
168550. phenotype.
604757. phenotype.
OpenTargetsiENSG00000120149.
Orphaneti1541. Craniosynostosis, Boston type.
60015. Parietal foramina.
251290. Parietal foramina with cleidocranial dysplasia.
PharmGKBiPA31197.

Polymorphism and mutation databases

BioMutaiMSX2.
DMDMi311033429.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000490991 – 267Homeobox protein MSX-2Add BLAST267

Proteomic databases

EPDiP35548.
MaxQBiP35548.
PaxDbiP35548.
PeptideAtlasiP35548.
PRIDEiP35548.

PTM databases

iPTMnetiP35548.
PhosphoSitePlusiP35548.

Expressioni

Gene expression databases

BgeeiENSG00000120149.
CleanExiHS_MSX2.
ExpressionAtlasiP35548. baseline and differential.
GenevisibleiP35548. HS.

Organism-specific databases

HPAiHPA005652.

Interactioni

Subunit structurei

Interacts with MINT (By similarity). Interacts with XRCC6 (Ku70) and XRCC5 (Ku80).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PITX1P783374EBI-6447480,EBI-748265

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110594. 24 interactors.
IntActiP35548. 33 interactors.
STRINGi9606.ENSP00000239243.

Structurei

3D structure databases

ProteinModelPortaliP35548.
SMRiP35548.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Msh homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0492. Eukaryota.
ENOG410YT2J. LUCA.
GeneTreeiENSGT00900000140771.
HOGENOMiHOG000231922.
HOVERGENiHBG005205.
InParanoidiP35548.
KOiK09341.
OMAiPLGYSMY.
OrthoDBiEOG091G0P1V.
PhylomeDBiP35548.
TreeFamiTF350699.

Family and domain databases

CDDicd00086. homeodomain. 1 hit.
InterProiView protein in InterPro
IPR009057. Homeobox-like_sf.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00024. HOMEOBOX.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

Sequencei

Sequence statusi: Complete.

P35548-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASPSKGNDL FSPDEEGPAV VAGPGPGPGG AEGAAEERRV KVSSLPFSVE
60 70 80 90 100
ALMSDKKPPK EASPLPAESA SAGATLRPLL LSGHGAREAH SPGPLVKPFE
110 120 130 140 150
TASVKSENSE DGAAWMQEPG RYSPPPRHMS PTTCTLRKHK TNRKPRTPFT
160 170 180 190 200
TSQLLALERK FRQKQYLSIA ERAEFSSSLN LTETQVKIWF QNRRAKAKRL
210 220 230 240 250
QEAELEKLKM AAKPMLPSSF SLPFPISSPL QAASIYGASY PFHRPVLPIP
260
PVGLYATPVG YGMYHLS
Length:267
Mass (Da):28,897
Last modified:November 2, 2010 - v3
Checksum:i5B61B75F4A7C4AFD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti28P → L in CAA49156 (PubMed:8101453).Curated1
Sequence conflicti32E → A in CAA49156 (PubMed:8101453).Curated1
Sequence conflicti62 – 65ASPL → SPAV in CAA49156 (PubMed:8101453).Curated4
Sequence conflicti67A → P in CAA49156 (PubMed:8101453).Curated1
Sequence conflicti69S → G in CAA49156 (PubMed:8101453).Curated1
Sequence conflicti75T → H in CAA49156 (PubMed:8101453).Curated1
Sequence conflicti85G → R in CAA49156 (PubMed:8101453).Curated1
Sequence conflicti107E → G in CAA49156 (PubMed:8101453).Curated1
Sequence conflicti194R → S in CAA49156 (PubMed:8101453).Curated1
Sequence conflicti237G → A in CAA49156 (PubMed:8101453).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010898129M → T8 PublicationsCorresponds to variant dbSNP:rs4242182Ensembl.1
Natural variantiVAR_003755148P → H in CRS2; gain of function. 1 PublicationCorresponds to variant dbSNP:rs104893895Ensembl.1
Natural variantiVAR_071634148P → L in CRS2. 2 Publications1
Natural variantiVAR_010786154L → P in PFM1. 1 Publication1
Natural variantiVAR_010200159 – 160Missing in PFM1; loss of function. 1 Publication2
Natural variantiVAR_010201172R → H in PFM1; loss of function. 2 PublicationsCorresponds to variant dbSNP:rs104893896Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X69295 mRNA. Translation: CAA49156.1.
L22499, L22498 Genomic DNA. Translation: AAB42178.1.
S75308 Genomic DNA. Translation: AAD14169.1.
S75361 mRNA. Translation: AAB33867.1.
D31771 mRNA. Translation: BAA06549.1.
D89377 mRNA. Translation: BAA13949.1.
BT009814 mRNA. Translation: AAP88816.1.
AC117531 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW61381.1.
CH471062 Genomic DNA. Translation: EAW61382.1.
BC015509 mRNA. Translation: AAH15509.1.
D14970 mRNA. Translation: BAA03611.1.
CCDSiCCDS4392.1.
PIRiA49068.
RefSeqiNP_002440.2. NM_002449.4.
UniGeneiHs.89404.

Genome annotation databases

EnsembliENST00000239243; ENSP00000239243; ENSG00000120149.
GeneIDi4488.
KEGGihsa:4488.
UCSCiuc003mcy.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMSX2_HUMAN
AccessioniPrimary (citable) accession number: P35548
Secondary accession number(s): D3DQN1, Q53XM4, Q9UD60
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 2, 2010
Last modified: November 22, 2017
This is version 179 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families