Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MXD3 Gene

Aliases for MXD3 Gene

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

External Ids for MXD3 Gene

Previous GeneCards Identifiers for MXD3 Gene

  • GC05M177575
  • GC05M176668
  • GC05M176713
  • GC05M176715
  • GC05M176665
  • GC05M176666
  • GC05M176732
  • GC05M171653
  • GC05M176733
  • GC05M176744
  • GC05M177302
  • GC05M177304
  • GC05M177311
  • GC05M177319

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. Gene Ontology (GO) annotations related to this gene include protein dimerization activity. An important paralog of this gene is MXI1.

UniProtKB/Swiss-Prot 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).

Additional gene information for MXD3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MXD3 Gene

Genomics for MXD3 Gene

GeneHancer (GH) Regulatory Elements for MXD3 Gene

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
GH05I177308 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 579 +1.8 1763 4.9 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B E2F8 MXD3 FAM193B RGS14 UIMC1 NSD1 PHYKPL HNRNPAB ENSG00000251414 ZNF346 ENSG00000250909
GH05I176386 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 28 +924.3 924335 4.1 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 HIGD2A NOP16 FAF2 ENSG00000251414 ENSG00000250909 NSD1 RPL21P60 UIMC1 MXD3 ZNF346
GH05I178203 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.1 -897.0 -896987 12.3 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 HNRNPAB ENSG00000247679 FAM193B ZNF879 LOC202181 ZNF354C ZFP2 ENSG00000254035 ZNF454 CLK4
GH05I177356 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 18 -45.7 -45733 3.7 HDGF RB1 BMI1 ZBTB40 KLF5 IRF4 RAD21 YY1 ZNF207 ZNF143 RGS14 PRELID1 MXD3 HNRNPAB SLC34A1 UIMC1 RAB24 FAM193B FAF2 GC05P176931
GH05I177298 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.8 +9.6 9587 10.3 HDGF PKNOX1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B PRELID1 RAB24 PIR33608 PIR37443 RGS14 MXD3 TSPAN17 PIR37372 GC05P177297 NSD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MXD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MXD3 gene promoter:

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)

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 isoforms=2, 3, 4108
  • 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

Suggested Antigen Peptide Sequences for MXD3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MXD3: view

No data available for 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:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0046983 protein dimerization activity IEA --
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

miRNA for MXD3 Gene

miRTarBase miRNAs that target MXD3

Inhibitory RNA Products

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

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

No Data Available

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated 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 and SIGNOR curated interactions for MXD3 Gene

Drugs & Compounds for MXD3 Gene

No Compound Related Data Available

Transcripts for MXD3 Gene

Unigene Clusters for MXD3 Gene

MAX dimerization protein 3:
Representative Sequences:

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for MXD3 Gene

GeneLoc Exon Structure for
MXD3
ECgene alternative splicing isoforms for
MXD3

Expression for MXD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of MXD3 Gene:

MXD3

SOURCE GeneReport for Unigene cluster for MXD3 Gene:

Hs.743332

Evidence on tissue expression from TISSUES for MXD3 Gene

  • Lung(4.1)
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 33 34
  • 89.97 (n)
chimpanzee
(Pan troglodytes)
Mammalia MXD3 33 34
  • 89.33 (n)
dog
(Canis familiaris)
Mammalia MXD3 33 34
  • 87.7 (n)
mouse
(Mus musculus)
Mammalia Mxd3 33 16 34
  • 84.79 (n)
rat
(Rattus norvegicus)
Mammalia Mxd3 33
  • 82.36 (n)
oppossum
(Monodelphis domestica)
Mammalia MXD3 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves MXD3 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MXD3 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mxd3 33
  • 58.96 (n)
zebrafish
(Danio rerio)
Actinopterygii mxd3 33 34
  • 60.5 (n)
worm
(Caenorhabditis elegans)
Secernentea mdl-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2549 34
  • 32 (a)
OneToMany
Species where no ortholog for MXD3 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)
  • 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 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)

Paralogs for MXD3 Gene

Paralogs for MXD3 Gene

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

genes like me logo Genes that share paralogs with MXD3: view

Variants for MXD3 Gene

Sequence variations from dbSNP and Humsavar for MXD3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000246353 -- 177,312,479(-) C/T upstream_transcript_variant
rs1000480379 -- 177,311,708(-) G/C intron_variant
rs1000526900 -- 177,313,943(-) T/G upstream_transcript_variant
rs1000584174 -- 177,312,159(-) C/G 5_prime_UTR_variant
rs1001044130 -- 177,308,321(-) T/A intron_variant

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

Additional Disease Information for MXD3

No disorders were found for MXD3 Gene.

No data available for MalaCards , 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 58
  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 58
  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 22 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Loss of MXD3 induces apoptosis of Reh human precursor B acute lymphoblastic leukemia cells. (PMID: 25554682) Barisone GA … Dίaz E (Blood cells, molecules & diseases 2015) 3 58

Products for MXD3 Gene

Sources for MXD3 Gene

Content
Loading form....