The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011] See more...

Aliases for MKX Gene

Aliases for MKX Gene

  • Mohawk Homeobox 2 3 5
  • Iroquois Homeobox Protein-Like 1 2 3
  • Homeobox Protein Mohawk 3 4
  • C10orf48 3 4
  • IRXL1 3 4
  • Iroquois Family Related Homeodomain Protein 3
  • Chromosome 10 Open Reading Frame 48 2
  • IFRX 3

External Ids for MKX Gene

Previous HGNC Symbols for MKX Gene

  • C10orf48
  • IRXL1

Previous GeneCards Identifiers for MKX Gene

  • GC10M028003
  • GC10M027961

Summaries for MKX Gene

Entrez Gene Summary for MKX Gene

  • The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011]

GeneCards Summary for MKX Gene

MKX (Mohawk Homeobox) is a Protein Coding gene. Diseases associated with MKX include Smallpox and Cleft Palate, Isolated. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is IRX4.

UniProtKB/Swiss-Prot Summary for MKX Gene

Gene Wiki entry for MKX Gene

Additional gene information for MKX Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MKX Gene

Genomics for MKX Gene

GeneHancer (GH) Regulatory Elements for MKX Gene

Promoters and enhancers for MKX 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
GH10J027741 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +1.8 1793 5.1 CTCF RAD21 SP1 CEBPG CREM RELA REST NRF1 TARDBP CEBPB MKX MKX-AS1 piR-42491-022
GH10J028364 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas 10.2 -621.3 -621261 5.2 ZNF24 ETV6 HLF ELF3 SP1 CEBPG PPARG HNF1A KAT8 IKZF1 MPP7 MKX MKX-AS1 WAC ZNF101P1 piR-52079-026
GH10J028177 Enhancer 1 FANTOM5 ENCODE dbSUPER 10.9 -432.6 -432572 1.9 CTCF ZBTB6 RAD21 ZNF652 REST PRDM10 TRIM22 IKZF2 ZBTB17 SMC3 MKX MKX-AS1 LRRC37A6P RF00017-624 piR-38051-039 MPP7
GH10J028241 Enhancer 0.9 Ensembl ENCODE dbSUPER 11 -496.8 -496841 2.6 CTCF CREB1 HLF RAD21 SP7 ZNF384 REST TRIM22 CBFB RUNX3 MPP7 MKX MKX-AS1 lnc-ARMC4-3 piR-39858-051
GH10J028179 Enhancer 0.7 ENCODE dbSUPER 10.9 -433.6 -433617 0.2 CTCF RAD21 ZNF652 REST TRIM22 SMC3 MKX-AS1 MKX LRRC37A6P RF00017-624 piR-38051-039 MPP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MKX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MKX gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • Cart-1
  • Cdc5
  • Elk-1
  • IRF-1
  • Pax-5
  • POU3F1
  • STAT5A

Genomic Locations for MKX Gene

Genomic Locations for MKX Gene
chr10:27,672,874-27,746,060
(GRCh38/hg38)
Size:
73,187 bases
Orientation:
Minus strand
chr10:27,961,803-28,034,989
(GRCh37/hg19)
Size:
73,187 bases
Orientation:
Minus strand

Genomic View for MKX Gene

Genes around MKX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MKX Gene

Proteins for MKX Gene

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

    Protein Symbol:
    Q8IYA7-MKX_HUMAN
    Recommended name:
    Homeobox protein Mohawk
    Protein Accession:
    Q8IYA7
    Secondary Accessions:
    • B3KWM5

    Protein attributes for MKX Gene

    Size:
    352 amino acids
    Molecular mass:
    39331 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MKX Gene

Post-translational modifications for MKX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MKX Gene

Domains & Families for MKX Gene

Gene Families for MKX Gene

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

Protein Domains for MKX Gene

Suggested Antigen Peptide Sequences for MKX Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein Mohawk (MKX_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYA7

UniProtKB/Swiss-Prot:

MKX_HUMAN :
  • Belongs to the TALE/IRO homeobox family.
Family:
  • Belongs to the TALE/IRO homeobox family.
genes like me logo Genes that share domains with MKX: view

Function for MKX Gene

Molecular function for MKX Gene

UniProtKB/Swiss-Prot Function:
May act as a morphogenetic regulator of cell adhesion.

Phenotypes From GWAS Catalog for MKX Gene

Gene Ontology (GO) - Molecular Function for MKX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with MKX: view
genes like me logo Genes that share phenotypes with MKX: view

Animal Models for MKX Gene

MGI Knock Outs for MKX:
  • Mkx Mkx<tm1.2Jian>
  • Mkx Mkx<tm1Asah>
  • Mkx Mkx<tm1Miu>
  • Mkx Mkx<tm1.1Asah>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MKX Gene

Localization for MKX Gene

Subcellular locations from UniProtKB/Swiss-Prot for MKX Gene

Nucleus.

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 MKX gene
Compartment Confidence
nucleus 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MKX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MKX: view

Pathways & Interactions for MKX Gene

PathCards logo

SuperPathways for MKX Gene

No Data Available

Gene Ontology (GO) - Biological Process for MKX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development ISS 16408284
genes like me logo Genes that share ontologies with MKX: view

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

Drugs & Compounds for MKX Gene

No Compound Related Data Available

Transcripts for MKX Gene

mRNA/cDNA for MKX Gene

CRISPR Products

Clone Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
SP1: -
SP2: -
SP3:

Relevant External Links for MKX Gene

GeneLoc Exon Structure for
MKX
ECgene alternative splicing isoforms for
MKX

Expression for MKX Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Prostate (x4.5).

Protein differential expression in normal tissues from HIPED for MKX Gene

This gene is overexpressed in Tlymphocyte (37.7) and Heart (26.4).

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



Protein tissue co-expression partners for MKX Gene

NURSA nuclear receptor signaling pathways regulating expression of MKX Gene:

MKX

SOURCE GeneReport for Unigene cluster for MKX Gene:

Hs.128193

Evidence on tissue expression from TISSUES for MKX Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MKX: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MKX Gene

Orthologs for MKX Gene

This gene was present in the common ancestor of animals.

Orthologs for MKX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MKX 33 32
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 33
  • 95 (a)
OneToMany
-- 33
  • 94 (a)
OneToMany
MKX 32
  • 91.1 (n)
-- 33
  • 81 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MKX 33
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MKX 33 32
  • 89.68 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mkx 32
  • 86.09 (n)
mouse
(Mus musculus)
Mammalia Mkx 17 33 32
  • 85.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MKX 33
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKX 33 32
  • 84.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MKX 33
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mkx 32
  • 74.88 (n)
zebrafish
(Danio rerio)
Actinopterygii mkxb 33
  • 73 (a)
OneToMany
mkxa 33 32
  • 66.96 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11617 33
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea irx-1 33
  • 15 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 12 (a)
ManyToMany
Species where no ortholog for MKX 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MKX Gene

ENSEMBL:
Gene Tree for MKX (if available)
TreeFam:
Gene Tree for MKX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MKX: view image

Paralogs for MKX Gene

Paralogs for MKX Gene

(2) SIMAP similar genes for MKX Gene using alignment to 3 proteins:

  • MKX_HUMAN
  • H0YKC7_HUMAN
  • H0YMU2_HUMAN
genes like me logo Genes that share paralogs with MKX: view

Variants for MKX Gene

Sequence variations from dbSNP and Humsavar for MKX Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000009169 -- 27,685,827(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000072147 -- 27,729,080(-) A/C intron_variant
rs1000098702 -- 27,711,115(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000137441 -- 27,722,740(-) A/C intron_variant
rs1000151138 -- 27,710,791(-) G/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2677848 CNV deletion 23128226
esv2734606 CNV deletion 23290073
esv2734639 CNV deletion 23290073
esv2734650 CNV deletion 23290073
esv2734661 CNV deletion 23290073
esv3622708 CNV gain 21293372
esv3622728 CNV gain 21293372
esv3622732 CNV loss 21293372
esv4953 CNV loss 18987735
esv7833 CNV loss 19470904
nsv550241 CNV gain 21841781
nsv831813 CNV loss 17160897

Variation tolerance for MKX Gene

Residual Variation Intolerance Score: 80.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.66; 56.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MKX Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MKX Gene

MalaCards: The human disease database

(2) MalaCards diseases for MKX Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
smallpox
  • ordinary smallpox
cleft palate, isolated
  • cpi
- elite association - COSMIC cancer census association via MalaCards
Search MKX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MKX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MKX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MKX Gene

Publications for MKX Gene

  1. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 43 56
  2. Mohawk is a novel homeobox gene expressed in the developing mouse embryo. (PMID: 16408284) Anderson DM … Rawls A (Developmental dynamics : an official publication of the American Association of Anatomists 2006) 2 3 56
  3. In silico characterization of an Iroquois family-related homeodomain protein. (PMID: 16077953) Weinmann A … Teufel A (International journal of molecular medicine 2005) 3 23 56
  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 56
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56

Products for MKX Gene

Sources for MKX Gene