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MEOX1 Gene(Protein Coding)

Mesenchyme Homeobox 1

GCID:
GC17M043640
GIFtS:
48
Genes Participants
UDN Logo

Aliases for MEOX1 Gene

Aliases for MEOX1 Gene

  • Mesenchyme Homeobox 1 2 3 4 5
  • MOX1 3 4
  • Homeobox Protein MOX-1 3
  • 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, 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 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

Additional gene information for MEOX1 Gene

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

Genomics for MEOX1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MEOX1 Gene

Promoters and enhancers for MEOX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J043659 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 +0.3 253 3.8 PKNOX1 ZSCAN4 INSM2 MZF1 FEZF1 BATF IRF4 ZNF335 GLIS2 SCRT2 MEOX1 SOST RNU6-1137P ETV4 MIR2117HG GC17P043657
GH17J044344 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.9 -685.2 -685204 5.5 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 POLR2B GRN UBTF SLC25A39 MEOX1 C17orf53 RUNDC3A-AS1 TMUB2 MAP3K14-AS1 LSM12 RUNDC3A
GH17J042672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.9 +983.3 983256 11.4 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 CNTNAP1 CCR10 PLEKHH3 ENSG00000267042 DHX8 TUBG2 HMGN1P29 ENSG00000267758 ENSG00000267002 ENSG00000266962
GH17J042796 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.9 +864.0 864014 2.8 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 COA3 CNTD1 NKIRAS2 MEOX1 ENSG00000267340 PLEKHH3 NBR1 STAT3 KAT2A GC17P043690
GH17J042772 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.9 +887.5 887540 4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 VPS25 HMGN1P29 DHX8 ENSG00000267758 LINC00910 HMGN2P15 NBR2 NKIRAS2 CNTNAP1 MEOX1
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MEOX1 Gene

Genomic Locations for MEOX1 Gene
chr17:43,640,388-43,661,954
(GRCh38/hg38)
Size:
21,567 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 Structure • Gene Density

RefSeq DNA sequence for MEOX1 Gene

Proteins for MEOX1 Gene

Products:

  1. Antibody
  2. Protein
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  • 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

Protein Expression for MEOX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MEOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MEOX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
ProtoNet:

Suggested Antigen Peptide Sequences for MEOX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MEOX1 Gene

Function for MEOX1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0001046 core promoter sequence-specific DNA binding ISS --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0003674 molecular_function ND --
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

Clone Products

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
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MEOX1 Gene

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

Pathways & Interactions for MEOX1 Gene

SuperPathways for MEOX1 Gene

PathCards logo More details on SuperPathways for MEOX1
No Data Available

Gene Ontology (GO) - Biological Process for MEOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001757 somite specification IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development TAS 7987315
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MEOX1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MEOX1 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(65) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MEOX1 Gene

Mesenchyme homeobox 1:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MEOX1 Gene
mRNA expression by GTEx for MEOX1 GenemRNA expression by BioGPS 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

NURSA nuclear receptor signaling pathways regulating expression of MEOX1 Gene:

MEOX1

SOURCE GeneReport for Unigene cluster for MEOX1 Gene:

Hs.438

Evidence on tissue expression from TISSUES for MEOX1 Gene

  • Muscle(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 34 33
  • 99.61 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MEOX1 34 33
  • 89.24 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MEOX1 34 33
  • 88.71 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Meox1 16 34 33
  • 84.13 (n)
rat
(Rattus norvegicus)
 Mammalia Meox1 33
  • 82.67 (n)
oppossum
(Monodelphis domestica)
 Mammalia MEOX1 34
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MEOX1 33
  • 68.47 (n)
GGMOXR1 34
  • 64 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MEOX1 34
  • 61 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii meox1 34 33
  • 62.83 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta btn 34
  • 40 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 31 (a)
 OneToMany
Species where no ortholog for MEOX1 was found in the sources mined by GeneCards:
  • 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)
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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MEOX1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs713993044 pathogenic, Klippel-Feil syndrome 2, autosomal recessive 43,661,285(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, stop_gained
rs79213434 benign, not specified 43,661,524(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs9898682 benign, not specified 43,661,455(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs1000599253 -- 43,652,121(-) G/A/C intron_variant
rs1000618085 -- 43,663,862(-) C/A/T upstream_transcript_variant

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

(5) MalaCards diseases for MEOX1 Gene - From: HGMD, 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
diaphanospondylodysostosis
  • vertebral ossification, defect in, with nephrogenic rests
van buchem disease
  • vbch
- 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

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  2. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. (PMID: 24073994) Bayrakli F … Kars HZ (BMC genetics 2013) 3 4 58
  3. 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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MEOX1 Gene

Sources for MEOX1 Gene

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