Gene Gene information from NCBI Gene database.
Entrez ID 4149
Gene name MYC associated factor X
Gene symbol MAX
Synonyms (NCBI Gene)
PDMCSbHLHd4
Chromosome 14
Chromosome location 14q23.3
Summary 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.
13
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.
500
miRTarBase ID miRNA Experiments Reference
MIRT016436 hsa-miR-193b-3p Microarray 20304954
MIRT438021 hsa-miR-365a-3p In situ hybridizationRTPCRLuciferase reporter assayMicroarrayWestern blot 24374827
MIRT016436 hsa-miR-193b-3p In situ hybridizationRTPCRLuciferase reporter assayMicroarrayWestern blot 24374827
MIRT438021 hsa-miR-365a-3p In situ hybridizationRTPCRLuciferase reporter assayMicroarrayWestern blot 24374827
MIRT016436 hsa-miR-193b-3p In situ hybridizationRTPCRLuciferase reporter assayMicroarrayWestern blot 24374827
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
154950 6913 ENSG00000125952
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
731
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Pathogenic rs2139756352 RCV005931918
Hereditary cancer-predisposing syndrome Pathogenic; Likely pathogenic rs786203385, rs587781931, rs1555340265, rs2139886995, rs2504407945, rs2504200802, rs2139756352, rs786202340, rs786203009, rs2063104349, rs2139752868, rs876660073, rs876659610, rs2504175252, rs2139755033
View all (9 more)
RCV002441105
RCV000130290
RCV002255959
RCV004948672
RCV002361709
RCV002407483
RCV002399074
RCV000166666
RCV000165100
RCV000166125
RCV002450501
RCV002431268
RCV000218866
RCV000222188
RCV003188031
RCV003297545
RCV003297547
RCV004513569
RCV000850061
RCV000129940
RCV000562852
RCV000572216
RCV002458041
RCV000850060
RCV001015116
Hereditary pheochromocytoma and paraganglioma Likely pathogenic; Pathogenic rs2139963878, rs2139886197, rs786203385, rs2139755167, rs587781931, rs2139886995, rs786202340, rs2139752868, rs2504199587, rs2504510600, rs2504176178, rs2504197333, rs387906650, rs387906651, rs1060500101
View all (7 more)
RCV001389671
RCV001960600
RCV001975100
RCV002002009
RCV005089640
RCV003096311
RCV001850351
RCV005089810
RCV005098264
RCV003043836
RCV003518148
RCV003516764
RCV003635300
RCV000524813
RCV000550085
RCV000461175
RCV000639335
RCV000639341
RCV000815462
RCV000808520
RCV001388072
RCV001044493
RCV001035732
Neoplasm Pathogenic rs387906650 RCV004668741
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diffuse midline glioma, H3 K27M-mutant Conflicting classifications of pathogenicity rs2063106020 RCV006254245
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Conflicting classifications of pathogenicity rs2063106020 RCV006254244
Immature ovarian teratoma Conflicting classifications of pathogenicity rs2063106020 RCV006254246
Malignant lymphoma, large B-cell, diffuse Benign rs762810 RCV005924429
Associations from Text MiningDisease 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