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Aliases for MEOX1 Gene

Aliases for MEOX1 Gene

  • Mesenchyme Homeobox 1 2 3 4 5
  • MOX1 3 4
  • Mesenchyme Homeo Box 1 2
  • KFS2 3

External Ids for MEOX1 Gene

Previous GeneCards Identifiers for MEOX1 Gene

  • GC17M041459
  • GC17M043894
  • GC17M041728
  • GC17M042192
  • GC17M042189
  • GC17M039074
  • GC17M037482

Summaries for MEOX1 Gene

Entrez Gene Summary for MEOX1 Gene

  • This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for MEOX1 Gene

MEOX1 (Mesenchyme Homeobox 1) is a Protein Coding gene. Diseases associated with MEOX1 include Klippel-Feil Syndrome 2 and Isolated Klippel-Feil Syndrome. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is HOXD3.

UniProtKB/Swiss-Prot for MEOX1 Gene

  • Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints (PubMed:23290072, PubMed:24073994). Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome.

Gene Wiki entry for MEOX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEOX1 Gene

Genomics for MEOX1 Gene

Regulatory Elements for MEOX1 Gene

Enhancers for MEOX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MEOX1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MEOX1 gene promoter:

Genomic Location for MEOX1 Gene

Chromosome:
17
Start:
43,640,388 bp from pter
End:
43,661,954 bp from pter
Size:
21,567 bases
Orientation:
Minus strand

Genomic View for MEOX1 Gene

Genes around MEOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEOX1 Gene

Proteins for MEOX1 Gene

  • Protein details for MEOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50221-MEOX1_HUMAN
    Recommended name:
    Homeobox protein MOX-1
    Protein Accession:
    P50221
    Secondary Accessions:
    • A8K524
    • A8MWF9
    • Q15069

    Protein attributes for MEOX1 Gene

    Size:
    254 amino acids
    Molecular mass:
    27997 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MEOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEOX1 Gene

Proteomics data for MEOX1 Gene at MOPED

Post-translational modifications for MEOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MEOX1 Gene

No data available for DME Specific Peptides for MEOX1 Gene

Domains & Families for MEOX1 Gene

Gene Families for MEOX1 Gene

Suggested Antigen Peptide Sequences for MEOX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P50221

UniProtKB/Swiss-Prot:

MEOX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
Domain:
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with MEOX1: view

Function for MEOX1 Gene

Molecular function for MEOX1 Gene

GENATLAS Biochemistry:
mesenchyme homeo box, murine Mox1,homolog
UniProtKB/Swiss-Prot Function:
Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints (PubMed:23290072, PubMed:24073994). Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome.

Gene Ontology (GO) - Molecular Function for MEOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MEOX1: view
genes like me logo Genes that share phenotypes with MEOX1: view

Human Phenotype Ontology for MEOX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MEOX1 Gene

MGI Knock Outs for MEOX1:

Animal Model Products

miRNA for MEOX1 Gene

miRTarBase miRNAs that target MEOX1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MEOX1 Gene

Localization for MEOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEOX1 Gene

Nucleus. Cytoplasm. Note=Localizes predominantly in the nucleus. {ECO:0000250 UniProtKB:P32442}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MEOX1 Gene COMPARTMENTS Subcellular localization image for MEOX1 gene
Compartment Confidence
nucleus 5
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for MEOX1 Gene

Pathways & Interactions for MEOX1 Gene

SuperPathways for MEOX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MEOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development TAS 7987315
GO:0061056 sclerotome development ISS --
genes like me logo Genes that share ontologies with MEOX1: view

No data available for Pathways by source and SIGNOR curated interactions for MEOX1 Gene

Drugs & Compounds for MEOX1 Gene

No Compound Related Data Available

Transcripts for MEOX1 Gene

Unigene Clusters for MEOX1 Gene

Mesenchyme homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MEOX1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for MEOX1 Gene

GeneLoc Exon Structure for
MEOX1
ECgene alternative splicing isoforms for
MEOX1

Expression for MEOX1 Gene

mRNA expression in normal human tissues for MEOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MEOX1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x6.9), Adipose - Visceral (Omentum) (x5.3), and Breast - Mammary Tissue (x4.6).

Protein differential expression in normal tissues from HIPED for MEOX1 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MEOX1 Gene



SOURCE GeneReport for Unigene cluster for MEOX1 Gene Hs.438

genes like me logo Genes that share expression patterns with MEOX1: view

Protein tissue co-expression partners for MEOX1 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for MEOX1 Gene

Orthologs for MEOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MEOX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MEOX1 35
  • 88.71 (n)
  • 88.98 (a)
MEOX1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEOX1 35
  • 89.24 (n)
  • 89.37 (a)
MEOX1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Meox1 35
  • 84.13 (n)
  • 82.14 (a)
Meox1 16
Meox1 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MEOX1 35
  • 99.61 (n)
  • 98.82 (a)
MEOX1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Meox1 35
  • 82.67 (n)
  • 81.75 (a)
oppossum
(Monodelphis domestica)
Mammalia MEOX1 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEOX1 35
  • 68.47 (n)
  • 64.17 (a)
GGMOXR1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MEOX1 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii meox1 35
  • 62.83 (n)
  • 57.2 (a)
meox1 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta btn 36
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for MEOX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MEOX1 Gene

ENSEMBL:
Gene Tree for MEOX1 (if available)
TreeFam:
Gene Tree for MEOX1 (if available)

Paralogs for MEOX1 Gene

(2) SIMAP similar genes for MEOX1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MEOX1: view

Variants for MEOX1 Gene

Sequence variations from dbSNP and Humsavar for MEOX1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs9898682 - 43,661,455(+) CTTCC(A/G)AGTGG intron-variant, reference, missense
rs11422 -- 43,640,695(-) TGGGG(A/G)ACTGA utr-variant-3-prime
rs572890 -- 43,655,608(+) tgcta(A/G)aagcc intron-variant
rs1042080 -- 43,640,874(-) GTGAC(A/T)GCAAA utr-variant-3-prime
rs1042082 -- 43,640,864(-) AAGGG(A/G)ACAAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MEOX1 Gene

Variant ID Type Subtype PubMed ID
nsv908264 CNV Gain 21882294
nsv908265 CNV Gain 21882294
esv2715958 CNV Deletion 23290073
nsv908266 CNV Loss 21882294
nsv819106 CNV Gain 19587683

Variation tolerance for MEOX1 Gene

Residual Variation Intolerance Score: 95.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.09; 80.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEOX1 Gene

Human Gene Mutation Database (HGMD)
MEOX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEOX1 Gene

Disorders for MEOX1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MEOX1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
klippel-feil syndrome 2
  • klippel-feil syndrome 2, autosomal recessive
isolated klippel-feil syndrome
  • klippel-feil sequence
klippel-feil syndrome
  • autosomal dominant klippel-feil syndrome
diaphanospondylodysostosis
  • defect in vertebral ossification with nephrogenic rests
sost-related sclerosing bone dysplasia
  • smith-lemli-opitz syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MEOX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MEOX1_HUMAN
  • Klippel-Feil syndrome 2, autosomal recessive (KFS2) [MIM:214300]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. {ECO:0000269 PubMed:23290072, ECO:0000269 PubMed:24073994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MEOX1

Genetic Association Database (GAD)
MEOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEOX1
genes like me logo Genes that share disorders with MEOX1: view

No data available for Genatlas for MEOX1 Gene

Publications for MEOX1 Gene

  1. Isolation of a diverged homeobox gene, MOX1, from the BRCA1 region on 17q21 by solution hybrid capture. (PMID: 7987315) Futreal P.A. … Wiseman R.W. (Hum. Mol. Genet. 1994) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. (PMID: 23290072) Mohamed J.Y. … Alkuraya F.S. (Am. J. Hum. Genet. 2013) 3

Products for MEOX1 Gene

Sources for MEOX1 Gene

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