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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Clear cell carcinoma of kidney Pathogenic rs2139756352 RCV005931918
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (20 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (18 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm Pathogenic rs387906650 RCV004668741
★★★★☆
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
Diffuse midline glioma, H3 K27M-mutant Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Immature ovarian teratoma Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 18493233
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 18493233
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 21685915, 22452945, 23010473, 23295290, 23551045, 23660872, 23743562, 24466223, 24665034, 24676840, 26070438, 26670126, 28973655, 29099418, 29534198
View all (1 more)
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 27838885 Associate
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia HPO_DG
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 18493233
★☆☆☆☆
Found in Text Mining only
Bilateral Wilms Tumor Wilms tumor CTD_human_DG 28825729
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31164347, 8239509
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 17942906
★☆☆☆☆
Found in Text Mining only