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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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi142 – 20160HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Osteogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

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

HGNCiHGNC:7392. MSX2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti154 – 1541L → P in PFM1. 1 Publication
VAR_010786
Natural varianti159 – 1602Missing in PFM1; loss of function. 1 Publication
VAR_010200
Natural varianti172 – 1721R → H in PFM1; loss of function. 2 Publications
Corresponds to variant rs104893896 [ dbSNP | Ensembl ].
VAR_010201
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481P → H in CRS2; gain of function. 1 Publication
Corresponds to variant rs104893895 [ dbSNP | Ensembl ].
VAR_003755
Natural varianti148 – 1481P → L in CRS2. 2 Publications
VAR_071634

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi147 – 1471T → A: Does not bind DNA but still suppresses OCFRE activation. 1 Publication

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

MalaCardsiMSX2.
MIMi168500. phenotype.
168550. phenotype.
604757. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 267267Homeobox protein MSX-2PRO_0000049099Add
BLAST

Proteomic databases

EPDiP35548.
MaxQBiP35548.
PaxDbiP35548.
PeptideAtlasiP35548.
PRIDEiP35548.

PTM databases

iPTMnetiP35548.
PhosphoSiteiP35548.

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

Protein-protein interaction databases

BioGridi110594. 23 interactions.
IntActiP35548. 1 interaction.
STRINGi9606.ENSP00000239243.

Structurei

3D structure databases

ProteinModelPortaliP35548.
SMRiP35548. Positions 143-200.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Msh homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0492. Eukaryota.
ENOG410YT2J. LUCA.
GeneTreeiENSGT00840000129671.
HOGENOMiHOG000231922.
HOVERGENiHBG005205.
InParanoidiP35548.
KOiK09341.
OMAiTSWIQEA.
OrthoDBiEOG091G0P1V.
PhylomeDBiP35548.
TreeFamiTF350699.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti28 – 281P → L in CAA49156 (PubMed:8101453).Curated
Sequence conflicti32 – 321E → A in CAA49156 (PubMed:8101453).Curated
Sequence conflicti62 – 654ASPL → SPAV in CAA49156 (PubMed:8101453).Curated
Sequence conflicti67 – 671A → P in CAA49156 (PubMed:8101453).Curated
Sequence conflicti69 – 691S → G in CAA49156 (PubMed:8101453).Curated
Sequence conflicti75 – 751T → H in CAA49156 (PubMed:8101453).Curated
Sequence conflicti85 – 851G → R in CAA49156 (PubMed:8101453).Curated
Sequence conflicti107 – 1071E → G in CAA49156 (PubMed:8101453).Curated
Sequence conflicti194 – 1941R → S in CAA49156 (PubMed:8101453).Curated
Sequence conflicti237 – 2371G → A in CAA49156 (PubMed:8101453).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti129 – 1291M → T.8 Publications
Corresponds to variant rs4242182 [ dbSNP | Ensembl ].
VAR_010898
Natural varianti148 – 1481P → H in CRS2; gain of function. 1 Publication
Corresponds to variant rs104893895 [ dbSNP | Ensembl ].
VAR_003755
Natural varianti148 – 1481P → L in CRS2. 2 Publications
VAR_071634
Natural varianti154 – 1541L → P in PFM1. 1 Publication
VAR_010786
Natural varianti159 – 1602Missing in PFM1; loss of function. 1 Publication
VAR_010200
Natural varianti172 – 1721R → H in PFM1; loss of function. 2 Publications
Corresponds to variant rs104893896 [ dbSNP | Ensembl ].
VAR_010201

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliP35548.
SMRiP35548. Positions 143-200.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110594. 23 interactions.
IntActiP35548. 1 interaction.
STRINGi9606.ENSP00000239243.

PTM databases

iPTMnetiP35548.
PhosphoSiteiP35548.

Polymorphism and mutation databases

BioMutaiMSX2.
DMDMi311033429.

Proteomic databases

EPDiP35548.
MaxQBiP35548.
PaxDbiP35548.
PeptideAtlasiP35548.
PRIDEiP35548.

Protocols and materials databases

DNASUi4488.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4488.
GeneCardsiMSX2.
GeneReviewsiMSX2.
H-InvDBHIX0005431.
HGNCiHGNC:7392. MSX2.
HPAiHPA005652.
MalaCardsiMSX2.
MIMi123101. gene.
168500. phenotype.
168550. phenotype.
604757. phenotype.
neXtProtiNX_P35548.
Orphaneti1541. Craniosynostosis, Boston type.
60015. Parietal foramina.
251290. Parietal foramina with cleidocranial dysplasia.
PharmGKBiPA31197.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0492. Eukaryota.
ENOG410YT2J. LUCA.
GeneTreeiENSGT00840000129671.
HOGENOMiHOG000231922.
HOVERGENiHBG005205.
InParanoidiP35548.
KOiK09341.
OMAiTSWIQEA.
OrthoDBiEOG091G0P1V.
PhylomeDBiP35548.
TreeFamiTF350699.

Enzyme and pathway databases

SIGNORiP35548.

Miscellaneous databases

ChiTaRSiMSX2. human.
GeneWikiiMsh_homeobox_2.
GenomeRNAii4488.
PROiP35548.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMSX2_HUMAN
AccessioniPrimary (citable) accession number: P35548
Secondary accession number(s): D3DQN1, Q53XM4, Q9UD60
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 2, 2010
Last modified: September 7, 2016
This is version 167 of the entry and version 3 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.