MSX2
entrez
4488
canonical
uniprot
P35548
canonical
ensembl
ENSG00000120149
resolver
ensp
ENSP00000239243
resolver
ensp
ENSP00000427425
resolver
enst
ENST00000239243
resolver
enst
ENST00000507785
resolver
genesymbol
MSX2
resolver
genesymbol_syn
HOX8
resolver
hgnc
HGNC:7392
resolver
uniprot
D3DQN1
resolver
uniprot
D6RIS4
resolver
uniprot
Q53XM4
resolver
uniprot
Q9UD60
resolver
uniprot_entry
D6RIS4_HUMAN
resolver
uniprot_entry
MSX2_HUMAN
resolver
uniprot_sec
D3DQN1
resolver
uniprot_sec
Q53XM4
resolver
uniprot_sec
Q9UD60
resolver
amino_acid_sequence
MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPKEASPLPAESASAGATLRPLLLSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPSSFSLPFPISSPLQAASIYGASYPFHRPVLPIPPVGLYATPVGYGMYHLS
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
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. {ECO:0000269|PubMed:12145306}.
uniprot
proteins
mass_dalton
28897
uniprot
proteins
mutagenesis
MUTAGEN 147; /note="T->A: Does not bind DNA but still suppresses OCFRE activation."; /evidence="ECO:0000269|PubMed:12145306
uniprot
proteins
protein_family
Msh homeobox family
uniprot
proteins
pubmed
10742103
uniprot
proteins
pubmed
10767351
uniprot
proteins
pubmed
12145306
uniprot
proteins
pubmed
14571277
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23918290
uniprot
proteins
pubmed
23949913
uniprot
proteins
pubmed
7518789
uniprot
proteins
pubmed
7687426
uniprot
proteins
pubmed
7897272
uniprot
proteins
pubmed
8101453
uniprot
proteins
pubmed
8106171
uniprot
proteins
pubmed
9522127
uniprot
proteins
sequence_length
267
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins