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MSX2 msh homeobox 2 [ Homo sapiens (human) ]

Gene ID: 4488, updated on 5-Dec-2018

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
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

Genomic context

See MSX2 in Genome Data Viewer
Location:
5q35.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (174724496..174730899)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (174151575..174157902)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 3 Neighboring gene uncharacterized LOC105377741 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Craniosynostosis 2
MedGen: C1858160 OMIM: 604757 GeneReviews: Not available
Compare labs
Parietal foramina 1
MedGen: C1868599 OMIM: 168500 GeneReviews: Enlarged Parietal Foramina
Compare labs
Parietal foramina with cleidocranial dysplasia
MedGen: C1868597 OMIM: 168550 GeneReviews: Enlarged Parietal Foramina
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-12-15)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2011-12-15)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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)

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
    5001..11328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363626.1NP_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
  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
    Related
    ENSP00000239243.5, ENST00000239243.6
    Conserved Domains (1) summary
    pfam00046
    Location:145198
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    174724496..174730899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009489.2XP_016864978.1  homeobox protein MSX-2 isoform X1

    UniProtKB/TrEMBL
    D6RIS4
    Related
    ENSP00000427425.1, ENST00000507785.2
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