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Aliases for MXD4 Gene

Aliases for MXD4 Gene

  • MAX Dimerization Protein 4 2 3 5
  • Max-Interacting Transcriptional Repressor MAD4 3 4
  • Class C Basic Helix-Loop-Helix Protein 12 3 4
  • Max-Associated Protein 4 3 4
  • Max Dimerizer 4 3 4
  • BHLHc12 3 4
  • MAD4 3 4
  • Max Dimerization Protein 4 3
  • Mad4 Homolog 3
  • MSTP149 3
  • BHLHC12 4
  • MST149 3

External Ids for MXD4 Gene

Previous GeneCards Identifiers for MXD4 Gene

  • GC04M002116
  • GC04M002210
  • GC04M002216
  • GC04M002249
  • GC04M002256
  • GC04M002259
  • GC04M002262

Summaries for MXD4 Gene

Entrez Gene Summary for MXD4 Gene

  • This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008]

GeneCards Summary for MXD4 Gene

MXD4 (MAX Dimerization Protein 4) is a Protein Coding gene. Among its related pathways are Validated targets of C-MYC transcriptional repression. Gene Ontology (GO) annotations related to this gene include protein dimerization activity and transcription corepressor activity. An important paralog of this gene is MXI1.

UniProtKB/Swiss-Prot for MXD4 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).

Gene Wiki entry for MXD4 Gene

Additional gene information for MXD4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MXD4 Gene

Genomics for MXD4 Gene

GeneHancer (GH) Regulatory Elements for MXD4 Gene

Promoters and enhancers for MXD4 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
GH04J002255 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 655.6 +3.0 2973 8.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 MXD4 HAUS3 RNF4 CRIPAK FAM193A NOP14 NELFA MAEA ADD1 ENSG00000254094
GH04J002264 Enhancer 0.6 ENCODE dbSUPER 650.7 -1.4 -1375 0.2 ZIC2 NR2C2 MXD4 GC04P002288
GH04J002263 Enhancer 0.4 ENCODE 650.7 -1.6 -1640 0 POLR2A ZIC2 MXD4 GC04P002288
GH04J002361 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 11.9 -101.2 -101157 4.5 FOXA2 PKNOX1 ATF1 YY1 RXRA REST ZNF592 NFIL3 GMEB1 SMARCA4 ZFYVE28 ENSG00000251148 MXD4 CFAP99 LOC105374353 RNF4 HAUS3 POLN NELFA C4orf48
GH04J002007 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 +253.1 253088 3.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 NELFA HAUS3 NOP14-AS1 MFSD10 FAM193A RNF4 MAEA SCARNA22 C4orf48 SH3BP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MXD4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MXD4 gene promoter:
  • RP58
  • FAC1
  • NF-1
  • NF-1/L
  • RSRFC4
  • HEN1
  • MIF-1
  • Lhx3a
  • LHX3b

Genomic Locations for MXD4 Gene

Genomic Locations for MXD4 Gene
chr4:2,247,432-2,262,294
(GRCh38/hg38)
Size:
14,863 bases
Orientation:
Minus strand
chr4:2,249,159-2,264,021
(GRCh37/hg19)
Size:
14,863 bases
Orientation:
Minus strand

Genomic View for MXD4 Gene

Genes around MXD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MXD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MXD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MXD4 Gene

Proteins for MXD4 Gene

  • Protein details for MXD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14582-MAD4_HUMAN
    Recommended name:
    Max dimerization protein 4
    Protein Accession:
    Q14582
    Secondary Accessions:
    • A2A335
    • Q5TZX4

    Protein attributes for MXD4 Gene

    Size:
    209 amino acids
    Molecular mass:
    23528 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).

neXtProt entry for MXD4 Gene

Post-translational modifications for MXD4 Gene

  • Ubiquitination at Lys116, isoforms=96, and isoforms=77
  • Modification sites at PhosphoSitePlus

Other Protein References for MXD4 Gene

No data available for DME Specific Peptides for MXD4 Gene

Domains & Families for MXD4 Gene

Gene Families for MXD4 Gene

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

Protein Domains for MXD4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MXD4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MXD4: view

No data available for UniProtKB/Swiss-Prot for MXD4 Gene

Function for MXD4 Gene

Molecular function for MXD4 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 MXD4 Gene

Gene Ontology (GO) - Molecular Function for MXD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003714 transcription corepressor activity TAS 8521822
GO:0005515 protein binding IPI 15469726
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with MXD4: view
genes like me logo Genes that share phenotypes with MXD4: view

Animal Model Products

CRISPR Products

miRNA for MXD4 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MXD4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MXD4 Gene

Localization for MXD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MXD4 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 MXD4 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MXD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MXD4: view

Pathways & Interactions for MXD4 Gene

genes like me logo Genes that share pathways with MXD4: view

Pathways by source for MXD4 Gene

1 BioSystems pathway for MXD4 Gene

Gene Ontology (GO) - Biological Process for MXD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS 8521822
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008285 negative regulation of cell proliferation TAS 8521822
genes like me logo Genes that share ontologies with MXD4: view

No data available for SIGNOR curated interactions for MXD4 Gene

Drugs & Compounds for MXD4 Gene

No Compound Related Data Available

Transcripts for MXD4 Gene

Unigene Clusters for MXD4 Gene

MAX dimerization protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MXD4

Alternative Splicing Database (ASD) splice patterns (SP) for MXD4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b
SP1: - - - -
SP2: -
SP3: -
SP4:
SP5:
SP6: -

Relevant External Links for MXD4 Gene

GeneLoc Exon Structure for
MXD4
ECgene alternative splicing isoforms for
MXD4

Expression for MXD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MXD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MXD4 Gene

This gene is overexpressed in Neutrophil (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MXD4 Gene



Protein tissue co-expression partners for MXD4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MXD4 Gene:

MXD4

SOURCE GeneReport for Unigene cluster for MXD4 Gene:

Hs.655020

Evidence on tissue expression from TISSUES for MXD4 Gene

  • Lung(4.7)
  • Nervous system(4.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with MXD4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MXD4 Gene

Orthologs for MXD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MXD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MXD4 34 33
  • 99.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MXD4 34 33
  • 91.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MXD4 34 33
  • 91.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mxd4 16 34 33
  • 87.88 (n)
oppossum
(Monodelphis domestica)
Mammalia MXD4 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MXD4 34 33
  • 74.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MXD4 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mxd4 33
  • 71.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.486 33
zebrafish
(Danio rerio)
Actinopterygii mxd4 33
  • 72.5 (n)
MXD4 34
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mdl-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2549 34
  • 36 (a)
OneToMany
Species where no ortholog for MXD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • 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 MXD4 Gene

ENSEMBL:
Gene Tree for MXD4 (if available)
TreeFam:
Gene Tree for MXD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MXD4: view image

Paralogs for MXD4 Gene

Paralogs for MXD4 Gene

(4) SIMAP similar genes for MXD4 Gene using alignment to 4 proteins:

  • MAD4_HUMAN
  • D3DVQ5_HUMAN
  • D6RGV1_HUMAN
  • H0Y8Z5_HUMAN
genes like me logo Genes that share paralogs with MXD4: view

Variants for MXD4 Gene

Sequence variations from dbSNP and Humsavar for MXD4 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000048895 -- 2,262,504(-) T/C upstream_transcript_variant
rs1000203943 -- 2,260,668(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000311129 -- 2,251,022(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000353867 -- 2,256,512(-) CA/ genic_downstream_transcript_variant, intron_variant
rs1000395994 -- 2,259,556(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MXD4 Gene

Variant ID Type Subtype PubMed ID
dgv312n21 CNV loss 19592680
dgv8910n54 CNV loss 21841781
dgv8911n54 CNV loss 21841781
dgv8912n54 CNV loss 21841781
dgv8913n54 CNV loss 21841781
dgv8914n54 CNV gain 21841781
dgv8915n54 CNV loss 21841781
dgv8916n54 CNV gain 21841781
esv24467 CNV loss 19812545
esv2726835 CNV deletion 23290073
nsv1009347 CNV gain 25217958
nsv1073719 CNV deletion 25765185
nsv1126675 CNV deletion 24896259
nsv1133574 CNV deletion 24896259
nsv4200 CNV insertion 18451855
nsv508990 CNV insertion 20534489
nsv527189 CNV loss 19592680
nsv593375 CNV loss 21841781
nsv593376 CNV loss 21841781
nsv593377 CNV loss 21841781
nsv593388 CNV gain 21841781
nsv829838 CNV loss 17160897

Variation tolerance for MXD4 Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MXD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MXD4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MXD4 Gene

Disorders for MXD4 Gene

Additional Disease Information for MXD4

No disorders were found for MXD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MXD4 Gene

Publications for MXD4 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 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 novel Max-like BHLHZip protein that interacts with the Max network of transcription factors. (PMID: 10593926) Billin AN … Ayer DE (The Journal of biological chemistry 1999) 3 22 58
  4. Mad3 and Mad4: novel Max-interacting transcriptional repressors that suppress c-myc dependent transformation and are expressed during neural and epidermal differentiation. (PMID: 8521822) Hurlin PJ … Eisenman RN (The EMBO journal 1995) 2 3 58
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X … Chen J (Molecular systems biology 2015) 3 58

Products for MXD4 Gene

Sources for MXD4 Gene

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