Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4149
Gene name Gene Name - the full gene name approved by the HGNC.
MYC associated factor X
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAX
Synonyms (NCBI Gene) Gene synonyms aliases
PDMCS, bHLHd4
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.3
Summary Summary of gene provided in NCBI Entrez 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 oncopro
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387906649 T>C Risk-factor, pathogenic Upstream transcript variant, genic upstream transcript variant, intron variant, initiator codon variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs387906650 G>A Risk-factor, pathogenic Coding sequence variant, intron variant, genic downstream transcript variant, stop gained, non coding transcript variant, 5 prime UTR variant
rs587781931 ->T Likely-pathogenic, pathogenic Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs752477890 C>A Pathogenic Stop gained, intron variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant
rs786203385 C>T Pathogenic, risk-factor Intron variant, splice donor variant, non coding transcript variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016436 hsa-miR-193b-3p Microarray 20304954
MIRT438021 hsa-miR-365a-3p In situ hybridization, RTPCR, Luciferase reporter assay, Microarray, Western blot 24374827
MIRT016436 hsa-miR-193b-3p In situ hybridization, RTPCR, Luciferase reporter assay, Microarray, Western blot 24374827
MIRT438021 hsa-miR-365a-3p In situ hybridization, RTPCR, Luciferase reporter assay, Microarray, Western blot 24374827
MIRT016436 hsa-miR-193b-3p In situ hybridization, RTPCR, Luciferase reporter assay, Microarray, Western blot 24374827
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8521822, 10723141
GO:0000785 Component Chromatin IDA 12837246
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 8425219, 8521822
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
154950 6913 ENSG00000125952
Protein
UniProt ID P61244
Protein name Protein max (Class D basic helix-loop-helix protein 4) (bHLHd4) (Myc-associated factor X)
Protein 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. Ma
PDB 1AN2 , 1HLO , 1NKP , 1NLW , 1R05 , 5EYO , 6G6J , 6G6K , 6G6L , 8OTS , 8OTT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 24 75 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.
Sequence
MSDNDDIEVESDEEQPRFQSAADKRAHHNALERKRRDHIKDSFHSLRDSVPSLQGEKASR
AQILDKATEYIQYMR
RKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDN
SLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS
Sequence length 160
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Polycomb repressive complex
MAPK signaling pathway
Pathways in cancer
Transcriptional misregulation in cancer
Small cell lung cancer
  Transcription of E2F targets under negative control by DREAM complex
Cyclin E associated events during G1/S transition
Cyclin A:Cdk2-associated events at S phase entry
Transcriptional Regulation by E2F6
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary Pheochromocytoma-Paraganglioma hereditary pheochromocytoma-paraganglioma rs1193255946, rs1555340550, rs1167538050, rs387906650, rs1595166895, rs752477890, rs387906651, rs2063104408, rs2063102803, rs587781931, rs786203385, rs786202340, rs1060500101 N/A
Pheochromocytoma pheochromocytoma rs387906651 N/A
neoplasm Neoplasm rs387906650 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Macrocephaly polydactyly-macrocephaly syndrome N/A N/A GenCC
Retinoblastoma retinoblastoma N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Hyperplasia Congenital Associate 27838885
Carcinogenesis Inhibit 26046465
Colorectal Neoplasms Associate 32140074
Coronary Artery Disease Associate 26936111
Drug Related Side Effects and Adverse Reactions Associate 32587329
Gastrointestinal Stromal Tumors Associate 26555092
Hyperplasia Associate 27838885
Inflammation Associate 34789272
Islet cell tumor syndrome Associate 27838885
Lymphoma Large Cell Anaplastic Associate 32587329