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MSX2 msh homeobox 2 [ Homo sapiens (human) ]

Gene ID: 4488, updated on 12-Aug-2022

Summary

Official Symbol
MSX2provided by HGNC
Official Full Name
msh homeobox 2provided by HGNC
Primary source
HGNC:HGNC:7392
See related
Ensembl:ENSG00000120149 MIM:123101; AllianceGenome:HGNC:7392
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FPP; MSH; PFM; CRS2; HOX8; PFM1
Summary
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 craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]
Expression
Biased expression in placenta (RPKM 16.6), urinary bladder (RPKM 6.4) and 5 other tissues See more
Orthologs
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Genomic context

See MSX2 in Genome Data Viewer
Location:
5q35.2
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (174724582..174730896)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (175265558..175271855)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (174151585..174157899)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377740 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 3 Neighboring gene VISTA enhancer hs1256 Neighboring gene microRNA 4634

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in BMP signaling pathway involved in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in activation of meiosis IEA
Inferred from Electronic Annotation
more info
 
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in bone trabecula formation IEA
Inferred from Electronic Annotation
more info
 
involved_in branching involved in mammary gland duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac conduction system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular response to estradiol stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in chondrocyte development IEA
Inferred from Electronic Annotation
more info
 
involved_in cranial suture morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in embryonic nail plate morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in enamel mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in endochondral bone growth IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation IEA
Inferred from Electronic Annotation
more info
 
involved_in frontal suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in mesenchymal cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of CREB transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription regulatory region DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in osteoblast development IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outflow tract septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of mesenchymal cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of timing of catagen IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in wound healing, spreading of epidermal cells IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
homeobox protein MSX-2
Names
homeobox protein Hox-8
msh homeo box 2
msh homeobox homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008124.1 RefSeqGene

    Range
    5011..11325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363626.2NP_001350555.1  homeobox protein MSX-2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC117531
    Consensus CDS
    CCDS87348.1
    UniProtKB/TrEMBL
    D6RIS4
    Related
    ENSP00000427425.1, ENST00000507785.2
  2. NM_002449.5NP_002440.2  homeobox protein MSX-2 isoform 1

    See identical proteins and their annotated locations for NP_002440.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC117531, AL552909, D89377, W38629
    Consensus CDS
    CCDS4392.1
    UniProtKB/Swiss-Prot
    P35548, Q9UD60
    Related
    ENSP00000239243.5, ENST00000239243.7
    Conserved Domains (1) summary
    pfam00046
    Location:145199
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    174724582..174730896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    175265558..175271855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)