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Aliases for MAX Gene

Aliases for MAX Gene

  • MYC Associated Factor X 2 3 5
  • Class D Basic Helix-Loop-Helix Protein 4 3 4
  • BHLHd4 3 4
  • Myc-Associated Factor X 4
  • MAX Protein 2
  • Protein Max 3

External Ids for MAX Gene

Previous GeneCards Identifiers for MAX Gene

  • GC14M062799
  • GC14M059335
  • GC14M063462
  • GC14M063531
  • GC14M064542
  • GC14M065472
  • GC14M045642

Summaries for MAX Gene

Entrez Gene Summary for MAX Gene

  • The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

GeneCards Summary for MAX Gene

MAX (MYC Associated Factor X) is a Protein Coding gene. Diseases associated with MAX include Hereditary Paraganglioma-Pheochromocytoma Syndromes and Pheochromocytoma. Among its related pathways are Regulation of Telomerase and Akt Signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding.

UniProtKB/Swiss-Prot for MAX Gene

  • Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognizes the core sequence 5-CAC[GA]TG-3. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 Lys-9 histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements.

Gene Wiki entry for MAX Gene

Additional gene information for MAX Gene

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

Genomics for MAX Gene

GeneHancer (GH) Regulatory Elements for MAX Gene

Promoters and enhancers for MAX 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
GH14I065100 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 623 3.4 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 MAX RAB15 FNTB LOC100506321
GH14I064700 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.4 +396.7 396664 10.4 FOXA2 ARID4B SIN3A ZNF48 YY1 ETS1 GLIS2 FOS SP3 RXRA PLEKHG3 MAX ENSG00000214770 PPP1R36 GPX2 CHURC1 SYNE2 MTHFD1 ZBTB1 LOC102723809
GH14I064673 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +428.9 428882 1.6 CTCF PKNOX1 EBF1 BMI1 RELA POLR2A SCRT2 ATF7 IKZF2 RUNX3 MAX PLEKHG3 ZBTB1 CHURC1 SYNE2 GC14P064620
GH14I064714 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.1 +381.5 381534 14 PKNOX1 CLOCK FOXA2 ZFP64 SIN3A YY1 ETS1 GLIS2 FOS TSHZ1 PLEKHG3 ZBTB1 PPP1R36 MAX ZBTB25 CHURC1 GC14P064746 PIR60020
GH14I065130 Enhancer 0.9 Ensembl ENCODE 13.3 -29.5 -29516 4.2 ELF3 SOX13 FOXA2 ZNF792 SAP130 ETV1 CEBPG TEAD3 ZNF335 GATA3 MAX LOC100506321 RAB15 CHURC1 GC14M065125 RNU2-14P GC14M065203
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAX on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MAX Gene

Genomic Locations for MAX Gene
chr14:65,006,101-65,102,695
(GRCh38/hg38)
Size:
96,595 bases
Orientation:
Minus strand
chr14:65,472,892-65,569,413
(GRCh37/hg19)

Genomic View for MAX Gene

Genes around MAX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MAX Gene

Proteins for MAX Gene

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

    Protein Symbol:
    P61244-MAX_HUMAN
    Recommended name:
    Protein max
    Protein Accession:
    P61244
    Secondary Accessions:
    • A6NH73
    • A8K265
    • A8K4G4
    • A8K824
    • P25912
    • P52163
    • Q14803
    • Q96CY8

    Protein attributes for MAX Gene

    Size:
    160 amino acids
    Molecular mass:
    18275 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MYC or MAD. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with SPAG9. The heterodimer MYC:MAX interacts with ABI1; the interaction may enhance MYC:MAX transcriptional activity.

    Three dimensional structures from OCA and Proteopedia for MAX Gene

    Alternative splice isoforms for MAX Gene

neXtProt entry for MAX Gene

Post-translational modifications for MAX Gene

  • Reversible lysine acetylation might regulate the nuclear-cytoplasmic shuttling of specific Max complexes.
  • Ubiquitination at isoforms=2, 3, 466

No data available for DME Specific Peptides for MAX Gene

Domains & Families for MAX Gene

Gene Families for MAX Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MAX Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAX Gene

Graphical View of Domain Structure for InterPro Entry

P61244

UniProtKB/Swiss-Prot:

MAX_HUMAN :
  • Belongs to the MAX family.
Family:
  • Belongs to the MAX family.
genes like me logo Genes that share domains with MAX: view

Function for MAX Gene

Molecular function for MAX Gene

GENATLAS Biochemistry:
Max protein,heterodimerizing with MYC,with high affinity for the DNA-binding site of MYC,binds to MAD and MNT
UniProtKB/Swiss-Prot Function:
Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognizes the core sequence 5-CAC[GA]TG-3. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 Lys-9 histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements.

Phenotypes From GWAS Catalog for MAX Gene

Gene Ontology (GO) - Molecular Function for MAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 contributes_to RNA polymerase II regulatory region sequence-specific DNA binding IDA 8425219
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 26070438
GO:0001227 contributes_to transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 8521822
genes like me logo Genes that share ontologies with MAX: view
genes like me logo Genes that share phenotypes with MAX: view

Animal Models for MAX Gene

MGI Knock Outs for MAX:

Transcription Factor Targets for MAX Gene

Selected GeneGlobe predicted Target genes for MAX
Targeted motifs for MAX Gene
HOMER Transcription Factor Regulatory Elements motif MAX
  • Consensus sequence: ACCACGTGGTCN Submotif: canonical Cell Type: K562 GEO ID: GSE31477

Clone Products

  • Addgene plasmids for MAX

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for MAX Gene

Localization for MAX Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAX Gene

Nucleus. Cell projection, dendrite.

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 MAX gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 12837246
GO:0005634 nucleus IEA,IDA 15358760
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with MAX: view

Pathways & Interactions for MAX Gene

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

SIGNOR curated interactions for MAX Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 8521822
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with MAX: view

Drugs & Compounds for MAX Gene

(4) Drugs for MAX Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
10058-F4 Pharma C-Myc-Max dimerization inhibitor 0

(1) ApexBio Compounds for MAX Gene

Compound Action Cas Number
10058-F4 C-Myc-Max dimerization inhibitor 403811-55-2
genes like me logo Genes that share compounds with MAX: view

Drug Products

Transcripts for MAX Gene

Unigene Clusters for MAX Gene

MYC associated factor X:
Representative Sequences:

Clone Products

  • Addgene plasmids for MAX

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

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

Relevant External Links for MAX Gene

GeneLoc Exon Structure for
MAX
ECgene alternative splicing isoforms for
MAX

Expression for MAX Gene

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

Protein differential expression in normal tissues from HIPED for MAX Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.0), CD4 Tcells (13.0), and Monocytes (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAX Gene



Protein tissue co-expression partners for MAX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAX Gene:

MAX

SOURCE GeneReport for Unigene cluster for MAX Gene:

Hs.285354

mRNA Expression by UniProt/SwissProt for MAX Gene:

P61244-MAX_HUMAN
Tissue specificity: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.

Evidence on tissue expression from TISSUES for MAX Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Adrenal gland(2.1)
  • Blood(2.1)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • thyroid
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with MAX: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MAX Gene

Orthologs for MAX Gene

This gene was present in the common ancestor of animals.

Orthologs for MAX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAX 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia MAX 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAX 33 34
  • 98.33 (n)
cow
(Bos Taurus)
Mammalia MAX 33 34
  • 98.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAX 34
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Max 33 16 34
  • 96.04 (n)
rat
(Rattus norvegicus)
Mammalia Max 33
  • 95.83 (n)
chicken
(Gallus gallus)
Aves MAX 33 34
  • 84.17 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia max 33
  • 81.36 (n)
Str.4058 33
African clawed frog
(Xenopus laevis)
Amphibia max-A 33
zebrafish
(Danio rerio)
Actinopterygii max 33 34
  • 79.58 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11119 33
fruit fly
(Drosophila melanogaster)
Insecta Max 34
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mxl-1 34
  • 35 (a)
OneToMany
mxl-3 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2903 34
  • 57 (a)
OneToOne
Species where no ortholog for MAX 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 MAX Gene

ENSEMBL:
Gene Tree for MAX (if available)
TreeFam:
Gene Tree for MAX (if available)

Paralogs for MAX Gene

Pseudogenes.org Pseudogenes for MAX Gene

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

No data available for Paralogs for MAX Gene

Variants for MAX Gene

Sequence variations from dbSNP and Humsavar for MAX Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1016685639 uncertain-significance, Pheochromocytoma 65,075,973(-) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1023475909 uncertain-significance, Pheochromocytoma 65,102,419(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1060500098 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes 65,093,702(-) A/G intron_variant
rs1060500099 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes 65,077,940(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1060500100 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes 65,076,622(-) T/A 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv952855 CNV deletion 24416366
nsv832816 CNV gain 17160897
nsv1108903 CNV deletion 24896259
nsv1070225 CNV deletion 25765185
esv3634762 CNV loss 21293372
esv3634761 CNV loss 21293372
esv3551663 CNV deletion 23714750
esv2748789 CNV deletion 23290073
esv2748788 CNV deletion 23290073
esv2748787 CNV deletion 23290073
esv2748779 CNV deletion 23290073
esv2673460 CNV deletion 23128226
esv2665422 CNV deletion 23128226
esv2506970 CNV deletion 19546169

Variation tolerance for MAX Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAX Gene

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

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

Disorders for MAX Gene

MalaCards: The human disease database

(4) MalaCards diseases for MAX Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hereditary paraganglioma-pheochromocytoma syndromes
  • familial glomus tumors
pheochromocytoma
  • pheochromocytoma, susceptibility to
renal oncocytoma
  • oncocytoma of kidney
sporadic pheochromocytoma
- elite association - COSMIC cancer census association via MalaCards
Search MAX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAX_HUMAN
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269 PubMed:21685915, ECO:0000269 PubMed:22452945, ECO:0000269 PubMed:26070438}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for MAX

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

No data available for Genatlas for MAX Gene

Publications for MAX Gene

  1. Max is acetylated by p300 at several nuclear localization residues. (PMID: 17217336) Faiola F … Martinez E (The Biochemical journal 2007) 3 4 22 58
  2. The crystal structure of an intact human Max-DNA complex: new insights into mechanisms of transcriptional control. (PMID: 9115440) Brownlie P … Suck D (Structure (London, England : 1993) 1997) 3 4 22 58
  3. Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc. (PMID: 2006410) Blackwood EM … Eisenman RN (Science (New York, N.Y.) 1991) 3 4 22 58
  4. Functional and in silico assessment of MAX variants of unknown significance. (PMID: 26070438) Comino-Méndez I … Cascón A (Journal of molecular medicine (Berlin, Germany) 2015) 3 4 58
  5. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. (PMID: 22452945) Burnichon N … Robledo M (Clinical cancer research : an official journal of the American Association for Cancer Research 2012) 3 4 58

Products for MAX Gene

Sources for MAX Gene

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