P35548 · MSX2_HUMAN
- ProteinHomeobox protein MSX-2
- GeneMSX2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids267 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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.
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 142-201 | Homeobox | ||||
Sequence: NRKPRTPFTTSQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQNRRAKAKRLQ |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameHomeobox protein MSX-2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP35548
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Parietal foramina 1 (PFM1)
- Note
- 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 alsoMIM:168500
Natural variants in PFM1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_010786 | 154 | L>P | in PFM1 | |
VAR_010200 | 159-160 | missing | in PFM1; loss of function | |
VAR_010201 | 172 | R>H | in PFM1; loss of function; dbSNP:rs104893896 |
Parietal foramina with cleidocranial dysplasia (PFMCCD)
- Note
- DescriptionCombines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.
- See alsoMIM:168550
Craniosynostosis 2 (CRS2)
- Note
- 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 alsoMIM:604757
Natural variants in CRS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_003755 | 148 | P>H | in CRS2; gain of function; dbSNP:rs104893895 | |
VAR_071634 | 148 | P>L | in CRS2; dbSNP:rs104893895 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_010898 | 129 | in dbSNP:rs4242182 | |||
Sequence: M → T | ||||||
Mutagenesis | 147 | Does not bind DNA but still suppresses OCFRE activation. | ||||
Sequence: T → A | ||||||
Natural variant | VAR_003755 | 148 | in CRS2; gain of function; dbSNP:rs104893895 | |||
Sequence: P → H | ||||||
Natural variant | VAR_071634 | 148 | in CRS2; dbSNP:rs104893895 | |||
Sequence: P → L | ||||||
Natural variant | VAR_010786 | 154 | in PFM1 | |||
Sequence: L → P | ||||||
Natural variant | VAR_010200 | 159-160 | in PFM1; loss of function | |||
Sequence: Missing | ||||||
Natural variant | VAR_010201 | 172 | in PFM1; loss of function; dbSNP:rs104893896 | |||
Sequence: R → H |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 345 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000049099 | 1-267 | UniProt | Homeobox protein MSX-2 | |||
Sequence: MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPKEASPLPAESASAGATLRPLLLSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPSSFSLPFPISSPLQAASIYGASYPFHRPVLPIPPVGLYATPVGYGMYHLS | |||||||
Modified residue (large scale data) | 3 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 63 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 91 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 123 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with MINT (By similarity).
Interacts with XRCC6 (Ku70) and XRCC5 (Ku80)
Interacts with XRCC6 (Ku70) and XRCC5 (Ku80)
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-71 | Disordered | ||||
Sequence: MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPKEASPLPAESAS | ||||||
Region | 116-147 | Disordered | ||||
Sequence: MQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRT |
Sequence similarities
Belongs to the Msh homeobox family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length267
- Mass (Da)28,897
- Last updated2010-11-02 v3
- Checksum5B61B75F4A7C4AFD
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
D6RIS4 | D6RIS4_HUMAN | MSX2 | 134 |
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 28 | in Ref. 1; CAA49156 | ||||
Sequence: P → L | ||||||
Sequence conflict | 32 | in Ref. 1; CAA49156 | ||||
Sequence: E → A | ||||||
Sequence conflict | 62-65 | in Ref. 1; CAA49156 | ||||
Sequence: ASPL → SPAV | ||||||
Sequence conflict | 67 | in Ref. 1; CAA49156 | ||||
Sequence: A → P | ||||||
Sequence conflict | 69 | in Ref. 1; CAA49156 | ||||
Sequence: S → G | ||||||
Sequence conflict | 75 | in Ref. 1; CAA49156 | ||||
Sequence: T → H | ||||||
Sequence conflict | 85 | in Ref. 1; CAA49156 | ||||
Sequence: G → R | ||||||
Sequence conflict | 107 | in Ref. 1; CAA49156 | ||||
Sequence: E → G | ||||||
Sequence conflict | 194 | in Ref. 1; CAA49156 | ||||
Sequence: R → S | ||||||
Sequence conflict | 237 | in Ref. 1; CAA49156 | ||||
Sequence: G → A |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X69295 EMBL· GenBank· DDBJ | CAA49156.1 EMBL· GenBank· DDBJ | mRNA | ||
L22499 EMBL· GenBank· DDBJ | AAB42178.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
L22498 EMBL· GenBank· DDBJ | AAB42178.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S75308 EMBL· GenBank· DDBJ | AAD14169.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S75361 EMBL· GenBank· DDBJ | AAB33867.1 EMBL· GenBank· DDBJ | mRNA | ||
D31771 EMBL· GenBank· DDBJ | BAA06549.1 EMBL· GenBank· DDBJ | mRNA | ||
D89377 EMBL· GenBank· DDBJ | BAA13949.1 EMBL· GenBank· DDBJ | mRNA | ||
BT009814 EMBL· GenBank· DDBJ | AAP88816.1 EMBL· GenBank· DDBJ | mRNA | ||
AC117531 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471062 EMBL· GenBank· DDBJ | EAW61381.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471062 EMBL· GenBank· DDBJ | EAW61382.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC015509 EMBL· GenBank· DDBJ | AAH15509.1 EMBL· GenBank· DDBJ | mRNA | ||
D14970 EMBL· GenBank· DDBJ | BAA03611.1 EMBL· GenBank· DDBJ | mRNA |