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] See more...

Aliases for MEOX1 Gene

Aliases for MEOX1 Gene

  • Mesenchyme Homeobox 1 2 3 4 5
  • MOX1 2 3 4
  • Homeobox Protein MOX-1 3 4
  • Mesenchyme Homeo Box 1 2
  • MEOX1 5
  • 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, Autosomal Recessive and Isolated Klippel-Feil Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is MEOX2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEOX1 Gene

Genomics for MEOX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MEOX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEOX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEOX1

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

Genomic Locations for MEOX1 Gene

Genomic Locations for MEOX1 Gene
chr17:43,640,389-43,661,977
(GRCh38/hg38)
Size:
21,589 bases
Orientation:
Minus strand
chr17:41,717,756-41,739,322
(GRCh37/hg19)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MEOX1 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
ProtoNet:

Suggested Antigen Peptide Sequences for MEOX1 Gene

GenScript: Design optimal peptide antigens:
  • Mesenchyme homeobox 1 (MEOX1_HUMAN)
genes like me logo Genes that share domains with MEOX1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MEOX1 Gene

Function for MEOX1 Gene

Molecular function for MEOX1 Gene

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.
GENATLAS Biochemistry:
mesenchyme homeo box, murine Mox1,homolog

Phenotypes From GWAS Catalog for MEOX1 Gene

Gene Ontology (GO) - Molecular Function for MEOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IEA --
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

CRISPR Products

miRNA for MEOX1 Gene

miRTarBase miRNAs that target MEOX1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEOX1 gene
Compartment Confidence
nucleus 5
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MEOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with MEOX1: view

Pathways & Interactions for MEOX1 Gene

PathCards logo

SuperPathways for MEOX1 Gene

No Data Available

SIGNOR curated interactions for MEOX1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MEOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001757 somite specification IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development TAS 7987315
GO:0008150 biological_process ND --
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with MEOX1: view

No data available for Pathways by source for MEOX1 Gene

Drugs & Compounds for MEOX1 Gene

No Compound Related Data Available

Transcripts for MEOX1 Gene

mRNA/cDNA for MEOX1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEOX1

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

Expression for MEOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for MEOX1 Gene



Protein tissue co-expression partners for MEOX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MEOX1

SOURCE GeneReport for Unigene cluster for MEOX1 Gene:

Hs.438

Evidence on tissue expression from TISSUES for MEOX1 Gene

  • Muscle(2.6)
  • Heart(2.4)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MEOX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • lip
  • middle ear
  • mouth
  • neck
  • outer ear
  • scalp
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
Pelvis:
  • pelvis
Limb:
  • arm
  • humerus
  • shoulder
  • upper limb
General:
  • blood vessel
  • hair
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MEOX1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia MEOX1 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MEOX1 30 31
  • 89.24 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MEOX1 30 31
  • 88.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Meox1 30 17 31
  • 84.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Meox1 30
  • 82.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia MEOX1 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MEOX1 30
  • 68.47 (n)
GGMOXR1 31
  • 64 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MEOX1 31
  • 61 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii meox1 30 31
  • 62.83 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta btn 31
  • 40 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
OneToMany
Species where no ortholog for MEOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MEOX1: view image

Paralogs for MEOX1 Gene

Paralogs for MEOX1 Gene

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

  • MEOX1_HUMAN
  • F8VXS6_HUMAN
genes like me logo Genes that share paralogs with MEOX1: view

Variants for MEOX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEOX1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
707963 Benign: not provided 43,661,208(-) C/G SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
708225 Benign: not provided 43,661,208(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
714734 Likely Benign: not provided 43,641,962(-) T/C MISSENSE_VARIANT,SYNONYMOUS_VARIANT
722853 Likely Benign: not provided 43,661,523(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
725045 Likely Benign: not provided 43,661,346(-) T/C SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for MEOX1 Gene

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

Variant ID Type Subtype PubMed ID
esv2715958 CNV deletion 23290073
esv7256 CNV gain 19470904
nsv1060861 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
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)

Additional Variant Information for MEOX1 Gene

Human Gene Mutation Database (HGMD)
MEOX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEOX1

SNP Genotyping and Copy Number Assay Products

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

Disorders for MEOX1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
klippel-feil syndrome 2, autosomal recessive
  • kfs2
isolated klippel-feil syndrome
  • klippel-feil sequence
klippel-feil syndrome
  • kfs
spastic ataxia 8
diaphanospondylodysostosis
  • vertebral ossification, defect in, with nephrogenic rests
- 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.

Additional Disease Information for 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 PA … Barrett JC (Human molecular genetics 1994) 2 3 4 23
  2. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. (PMID: 23290072) Mohamed JY … Alkuraya FS (American journal of human genetics 2013) 3 4
  3. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. (PMID: 24073994) Bayrakli F … Kars HZ (BMC genetics 2013) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for MEOX1 Gene

  • Signalway ELISA kits for MEOX1
  • Signalway Proteins for MEOX1

Sources for MEOX1 Gene