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MAX (MYC associated factor X)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4149
Gene nameGene Name - the full gene name approved by the HGNC.
MYC associated factor X
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MAX
SynonymsGene synonyms aliases
PDMCS, bHLHd4
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0000082 Process G1/S transition of mitotic cell cycle TAS
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8521822
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MSDNDDIEVESDEEQPRFQSAADKRAHHNALERKRRDHIKDSFHSLRDSVPSLQGEKASR
AQILDKATEYIQYMR
RKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDN
SLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS
Sequence length 160
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Aniridia Aniridia rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Carcinoma Carcinoma, Neuroendocrine rs121912654, rs555607708, rs786202962, rs1564055259
Endometrial carcinoma Carcinoma in situ of endometrium, Endometrial Carcinoma rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615
Glomerulonephritis Glomerulonephritis rs778043831
Unknown
Disease name Disease term dbSNP ID References
Adrenal gland pheochromocytoma Adrenal Gland Pheochromocytoma
Hereditary cancer syndrome Neoplastic Syndromes, Hereditary 21685915, 22452945, 27838885, 12553908, 25525159, 23551045
Capillary hemangioma of retina Capillary hemangioma of retina
Colon carcinoma Colon Carcinoma

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