This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tum... See more...

Aliases for MXD3 Gene

Aliases for MXD3 Gene

  • MAX Dimerization Protein 3 2 3 5
  • MAD3 2 3 4
  • Max-Interacting Transcriptional Repressor MAD3 3 4
  • Class C Basic Helix-Loop-Helix Protein 13 3 4
  • Max Dimerization Protein 3 3 4
  • Max-Associated Protein 3 3 4
  • Max Dimerizer 3 3 4
  • BHLHC13 3 4
  • BHLHc13 2 4
  • MXD3 5
  • MYX 3
  • Myx 4

External Ids for MXD3 Gene

Previous GeneCards Identifiers for MXD3 Gene

  • GC05M177575
  • GC05M176668
  • GC05M176713
  • GC05M176715
  • GC05M176665
  • GC05M176666
  • GC05M176732
  • GC05M171653
  • GC05M176733
  • GC05M176744
  • GC05M177302
  • GC05M177357
  • GC05M177355
  • GC05M177367
  • GC05M177387
  • GC05M177304
  • GC05M177311
  • GC05M177319
  • GC05M177326
  • GC05M177336
  • GC05M177344

Summaries for MXD3 Gene

Entrez Gene Summary for MXD3 Gene

  • This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]

GeneCards Summary for MXD3 Gene

MXD3 (MAX Dimerization Protein 3) is a Protein Coding gene. Diseases associated with MXD3 include Myxosarcoma and Perianal Hematoma. Gene Ontology (GO) annotations related to this gene include protein dimerization activity. An important paralog of this gene is MXD1.

UniProtKB/Swiss-Prot Summary for MXD3 Gene

  • Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MXD3 Gene

Genomics for MXD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MXD3 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
GH05J177308 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 618.3 +1.8 1763 4.9 SP1 CREB1 CTCF HNRNPL PRDM10 ZNF629 TFE3 POLR2A ZNF692 RCOR2 MXD3 RAB24 lnc-RAB24-1 RGS14 ZNF346 ZNF346-IT1 TSPAN17 GPRIN1 PRELID1 piR-44373-004
GH05J177337 Promoter 0.5 EPDnew 604.8 -24.7 -24700 0.1 RBFOX2 POLR2A MXD3 lnc-MXD3-1 LMAN2 lnc-MXD3-2
GH05J176386 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.4 +924.3 924335 4.1 BRCA1 ARHGAP35 SP1 CREB1 PRDM10 REST ZNF629 RFX1 SIX5 LEF1 HIGD2A NOP16 lnc-CLTB-1 FAF2 NSD1 ENSG00000251414 ENSG00000250909 UIMC1 RPL21P60 MXD3
GH05J177298 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.8 +9.6 9587 10.3 HNRNPL CREB1 CTCF PRDM10 ZNF629 IKZF1 ZNF692 POLR2A BACH1 ZHX2 PRELID1 RAB24 piR-32930-002 lnc-LMAN2-2 piR-40609-002 piR-44444 RGS14 MXD3 NSD1 ZNF346
GH05J177364 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.1 -50.3 -50271 4.3 SP1 PRDM10 IKZF1 KDM1A RCOR2 BACH1 JUND PRDM1 MTA2 ZNF143 RGS14 RAB24 MXD3 DBN1 PFN3 GRK6 F12 NSD1 PRELID1 DOK3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MXD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MXD3

Top Transcription factor binding sites by QIAGEN in the MXD3 gene promoter:
  • ARP-1
  • deltaCREB
  • Gfi-1
  • HEN1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • NRSF form 1
  • NRSF form 2

Genomic Locations for MXD3 Gene

Genomic Locations for MXD3 Gene
chr5:177,301,461-177,312,757
(GRCh38/hg38)
Size:
11,297 bases
Orientation:
Minus strand
chr5:176,728,462-176,739,758
(GRCh37/hg19)
Size:
11,297 bases
Orientation:
Minus strand

Genomic View for MXD3 Gene

Genes around MXD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MXD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MXD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MXD3 Gene

Proteins for MXD3 Gene

  • Protein details for MXD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW11-MAD3_HUMAN
    Recommended name:
    Max dimerization protein 3
    Protein Accession:
    Q9BW11
    Secondary Accessions:
    • B4E0J1
    • Q53HK1
    • Q7Z4Y0
    • Q8NDJ7
    • Q96ME3

    Protein attributes for MXD3 Gene

    Size:
    206 amino acids
    Molecular mass:
    23477 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with SIN3A AND SIN3B. Interacts with RNF17 (By similarity).

    Alternative splice isoforms for MXD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MXD3 Gene

Post-translational modifications for MXD3 Gene

  • Ubiquitination at Lys81 and Lys108
  • Modification sites at PhosphoSitePlus

Other Protein References for MXD3 Gene

No data available for DME Specific Peptides for MXD3 Gene

Domains & Families for MXD3 Gene

Gene Families for MXD3 Gene

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

Protein Domains for MXD3 Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
ProtoNet:

Suggested Antigen Peptide Sequences for MXD3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79367, highly similar to Homo sapiens MAX dimerization protein 3 (MXD3), mRNA (B4E0J1_HUMAN)
  • Myx (MAD3_HUMAN)
  • MXD3 protein (Q05BW2_HUMAN)
genes like me logo Genes that share domains with MXD3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MXD3 Gene

Function for MXD3 Gene

Molecular function for MXD3 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity).

Phenotypes From GWAS Catalog for MXD3 Gene

Gene Ontology (GO) - Molecular Function for MXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MXD3: view
genes like me logo Genes that share phenotypes with MXD3: view

Animal Models for MXD3 Gene

MGI Knock Outs for MXD3:

Animal Model Products

CRISPR Products

miRNA for MXD3 Gene

miRTarBase miRNAs that target MXD3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MXD3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MXD3 Gene

Localization for MXD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MXD3 Gene

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 MXD3 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0090575 RNA polymerase II transcription factor complex IEA --
genes like me logo Genes that share ontologies with MXD3: view

Pathways & Interactions for MXD3 Gene

PathCards logo

SuperPathways for MXD3 Gene

No Data Available

SIGNOR curated interactions for MXD3 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0045892 negative regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with MXD3: view

No data available for Pathways by source for MXD3 Gene

Drugs & Compounds for MXD3 Gene

No Compound Related Data Available

Transcripts for MXD3 Gene

mRNA/cDNA for MXD3 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 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 MXD3

Alternative Splicing Database (ASD) splice patterns (SP) for MXD3 Gene

No ASD Table

Relevant External Links for MXD3 Gene

GeneLoc Exon Structure for
MXD3

Expression for MXD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MXD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MXD3 Gene

This gene is overexpressed in Whole Blood (x4.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MXD3

SOURCE GeneReport for Unigene cluster for MXD3 Gene:

Hs.743332

Evidence on tissue expression from TISSUES for MXD3 Gene

  • Lung(4.1)
  • Skin(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with MXD3: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MXD3 Gene

Orthologs for MXD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MXD3 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia MXD3 30 31
  • 89.97 (n)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia MXD3 30 31
  • 89.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MXD3 30 31
  • 87.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mxd3 30 17 31
  • 84.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mxd3 30
  • 82.36 (n)
Oppossum
(Monodelphis domestica)
Mammalia MXD3 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MXD3 31
  • 50 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MXD3 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mxd3 30
  • 58.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii mxd3 30 31
  • 60.5 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mdl-1 31
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2549 31
  • 32 (a)
OneToMany
Species where no ortholog for MXD3 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for MXD3 Gene

ENSEMBL:
Gene Tree for MXD3 (if available)
TreeFam:
Gene Tree for MXD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MXD3: view image

Paralogs for MXD3 Gene

Paralogs for MXD3 Gene

(4) SIMAP similar genes for MXD3 Gene using alignment to 5 proteins:

  • MAD3_HUMAN
  • B4E0J1_HUMAN
  • D6RD21_HUMAN
  • D6RED4_HUMAN
  • Q05BW2_HUMAN
genes like me logo Genes that share paralogs with MXD3: view

Variants for MXD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MXD3 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs35691394 - p.Gln114His

Additional dbSNP identifiers (rs#s) for MXD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for MXD3 Gene

Variant ID Type Subtype PubMed ID
esv2759396 CNV gain 17122850
nsv1161311 CNV duplication 26073780
nsv428132 CNV gain 18775914
nsv471057 CNV loss 18288195
nsv509103 CNV insertion 20534489
nsv600364 CNV loss 21841781
nsv980764 CNV duplication 23825009

Variation tolerance for MXD3 Gene

Residual Variation Intolerance Score: 58.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MXD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MXD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MXD3 Gene

Disorders for MXD3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MXD3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myxosarcoma
perianal hematoma
  • external thrombosed haemorrhoids
bartholin's duct cyst
  • bartholin duct cyst
myopathy, centronuclear, 2
  • cnm2
neurofibrosarcoma
  • neurosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MXD3 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MXD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MXD3 Gene

Publications for MXD3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. 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
  3. Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? (PMID: 10918583) Meroni G … Reymond A (Oncogene 2000) 3 23
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3

Products for MXD3 Gene

Sources for MXD3 Gene