Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4488
Gene name Gene Name - the full gene name approved by the HGNC.
Msh homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSX2
Synonyms (NCBI Gene) Gene synonyms aliases
CRS2, FPP, HOX8, MSH, PFM, PFM1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRS2, PFM1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper cranio
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104893895 C>A,T Likely-pathogenic, pathogenic 3 prime UTR variant, coding sequence variant, missense variant
rs104893896 G>A Pathogenic 3 prime UTR variant, coding sequence variant, missense variant
rs121912971 GC>TA Pathogenic Stop gained, coding sequence variant
rs121912972 G>- Pathogenic Stop gained, coding sequence variant
rs1561643029 ->ATTG Pathogenic 3 prime UTR variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000728 hsa-miR-135b-5p Review 19574400
MIRT724823 hsa-miR-4293 HITS-CLIP 19536157
MIRT724822 hsa-miR-148b-5p HITS-CLIP 19536157
MIRT724821 hsa-miR-6874-3p HITS-CLIP 19536157
MIRT724820 hsa-miR-4277 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 14671321
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding ISS
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123101 7392 ENSG00000120149
Protein
UniProt ID P35548
Protein name Homeobox protein MSX-2 (Homeobox protein Hox-8)
Protein 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 li
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 143 199 Homeodomain Domain
Sequence
MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPK
EASPLPAESASAGATLRPLLLSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPG
RYSPPPRHMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLSIAERAEFSSSLN
LTETQVKIWFQNRRAKAKR
LQEAELEKLKMAAKPMLPSSFSLPFPISSPLQAASIYGASY
PFHRPVLPIPPVGLYATPVGYGMYHLS
Sequence length 267
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Human T-cell leukemia virus 1 infection  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aplasia cutis congenita Aplasia cutis congenita of scalp rs587777706
Craniosynostosis Craniosynostosis, CRANIOSYNOSTOSIS, TYPE 2 rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350 23918290, 23949913, 14571277, 8106171
Craniosynostosis syndrome Craniosynostosis, Boston type rs121918487, rs121918491, rs28931615, rs4647924, rs139494583, rs1057519046, rs1597730335, rs1597816045
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease term Disease name Evidence References Source
Trigonocephaly Trigonocephaly ClinVar
Parietal Foramina parietal foramina, parietal foramina 1 GenCC
Hypertension Hypertension GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 23874428
Ameloblastoma Associate 18854600
Arthritis Associate 33958655
Breast Neoplasms Associate 20682066, 21730974
Bruck syndrome 1 Associate 27146342
Calcinosis Associate 22874762
Carcinogenesis Associate 31261501
Carcinoma Ductal Associate 20961362
Carcinoma Pancreatic Ductal Associate 20961362
Carcinoma Renal Cell Associate 36344906