Gene Gene information from NCBI Gene database.
Entrez ID 10608
Gene name MAX dimerization protein 4
Gene symbol MXD4
Synonyms (NCBI Gene)
MAD4MST149MSTP149bHLHc12
Chromosome 4
Chromosome location 4p16.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT002761 hsa-miR-1-3p Microarray 15685193
MIRT017888 hsa-miR-335-5p Microarray 18185580
MIRT022628 hsa-miR-124-3p Microarray 18668037
MIRT002761 hsa-miR-1-3p Microarray;Other 15685193
MIRT043901 hsa-miR-378a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620016 13906 ENSG00000123933
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14582
Protein name Max dimerization protein 4 (Max dimerizer 4) (Class C basic helix-loop-helix protein 12) (bHLHc12) (Max-associated protein 4) (Max-interacting transcriptional repressor MAD4)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 54 106 Helix-loop-helix DNA-binding domain Domain
Sequence
MELNSLLILLEAAEYLERRDREAEHGYASVLPFDGDFAREKTKAAGLVRKAPNNRSSHNE
LEKHRRAKLRLYLEQLKQLVPLGPDSTRHTTLSLLKRAKVHIKKLE
EQDRRALSIKEQLQ
QEHRFLKRRLEQLSVQSVERVRTDSTGSAVSTDDSEQEVDIEGMEFGPGELDSVGSSSDA
DDHYSLQSGTGGDSGFGPHCRRLGRPALS
Sequence length 209
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nuclear signaling by ERBB4
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Brain Neoplasms Associate 37097595
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 19789310
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 22895069
★☆☆☆☆
Found in Text Mining only
Leukemia Associate 36302855
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Associate 36302855
★☆☆☆☆
Found in Text Mining only
Liposarcoma Myxoid Associate 30723300
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 30338611, 30723300, 36992464
★☆☆☆☆
Found in Text Mining only
Ovarian Diseases Associate 30338611
★☆☆☆☆
Found in Text Mining only
Sarcoma Associate 34232599
★☆☆☆☆
Found in Text Mining only