MYCN (MYCN proto-oncogene, bHLH transcription factor)

Gene

• Entrez ID: 4613
• Gene name: MYCN proto-oncogene, bHLH transcription factor
• Gene symbol: MYCN
• Synonyms (NCBI Gene): FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc, NMYC, ODED, bHLHe37
• Chromosome: 2
• Chromosome location: 2p24.3
• Summary: This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated wi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893646	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs104893647	C>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs104893648	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs121913666	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs367962377	C>A,T	Pathogenic, likely-benign	Coding sequence variant, 3 prime UTR variant, stop gained, synonymous variant
rs754137452	C>A,T	Pathogenic	Synonymous variant, 3 prime UTR variant, coding sequence variant, stop gained
rs759103701	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, 3 prime UTR variant
rs886039428	CT>-	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs886042150	G>T	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs1057517770	C>T	Likely-pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs1057521724	C>T	Likely-pathogenic	3 prime UTR variant, coding sequence variant, stop gained
rs1064794600	AGTTGC>-	Likely-pathogenic	Inframe deletion, 3 prime UTR variant, coding sequence variant
rs1553370918	TG>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1553370963	->C	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1553370992	AGCGCCAGCG>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1553371008	->A	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1572220856	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1572221400	->AG	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1572221449	G>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1572221505	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	18504438
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	18504438
MIRT000980	hsa-miR-34a-5p	qRT-PCR, Western blot	18505919
MIRT000980	hsa-miR-34a-5p	Review, Luciferase reporter assay	19461653
MIRT000980	hsa-miR-34a-5p	Review, Luciferase reporter assay	19461653
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay	18505919
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay	18504438
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay	17297439
MIRT000378	hsa-miR-101-3p	Luciferase reporter assay	14697198
MIRT000378	hsa-miR-101-3p	Western blot	19008416
MIRT000378	hsa-miR-101-3p	Western blot	19008416
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006224	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT006225	hsa-miR-34c-5p	Luciferase reporter assay, Western blot	22020437
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006224	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006224	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT000980	hsa-miR-34a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22662276
MIRT016613	hsa-miR-202-3p	Reporter assay	21654684
MIRT020415	hsa-miR-29c-3p	Reporter assay	21654684
MIRT027239	hsa-miR-29b-3p	Reporter assay	21654684
MIRT000378	hsa-miR-101-3p	Reporter assay	21654684
MIRT000378	hsa-miR-101-3p	Reporter assay	14697198
MIRT006135	hsa-miR-29a-3p	Reporter assay	21654684
MIRT031210	hsa-miR-19b-3p	Reporter assay	21654684
MIRT031308	hsa-miR-19a-3p	Reporter assay	14697198
MIRT032100	hsa-let-7e-5p	Reporter assay	21654684
MIRT032100	hsa-let-7e-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23774216
MIRT032100	hsa-let-7e-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23774216
MIRT020415	hsa-miR-29c-3p	PAR-CLIP	22012620
MIRT006135	hsa-miR-29a-3p	PAR-CLIP	22012620
MIRT027239	hsa-miR-29b-3p	PAR-CLIP	22012620
MIRT535775	hsa-miR-4686	PAR-CLIP	22012620
MIRT535774	hsa-miR-4491	PAR-CLIP	22012620
MIRT535773	hsa-miR-4657	PAR-CLIP	22012620
MIRT535772	hsa-miR-299-3p	PAR-CLIP	22012620
MIRT535771	hsa-miR-93-3p	PAR-CLIP	22012620
MIRT535770	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT242905	hsa-miR-1252-5p	PAR-CLIP	22012620
MIRT242904	hsa-miR-767-5p	PAR-CLIP	22012620
MIRT535769	hsa-miR-3135b	PAR-CLIP	22012620
MIRT535768	hsa-miR-1287-5p	PAR-CLIP	22012620
MIRT535767	hsa-miR-3688-5p	PAR-CLIP	22012620
MIRT535766	hsa-miR-891a-3p	PAR-CLIP	22012620
MIRT535765	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT535764	hsa-miR-6071	PAR-CLIP	22012620
MIRT535763	hsa-miR-4642	PAR-CLIP	22012620
MIRT242906	hsa-miR-4503	PAR-CLIP	22012620
MIRT000378	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT535762	hsa-miR-144-3p	PAR-CLIP	22012620
MIRT000378	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT535761	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT535760	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT236115	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT236107	hsa-miR-126-5p	PAR-CLIP	22012620
MIRT535759	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT236108	hsa-miR-331-5p	PAR-CLIP	22012620
MIRT535758	hsa-miR-556-3p	PAR-CLIP	22012620
MIRT236114	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT236116	hsa-miR-6509-5p	PAR-CLIP	22012620
MIRT000980	hsa-miR-34a-5p	Western blot	25348795
MIRT731559	hsa-miR-449a	Luciferase reporter assay	26891231
MIRT731559	hsa-miR-449a	Luciferase reporter assay	26891231
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay	27764804
MIRT731559	hsa-miR-449a	Luciferase reporter assay	27764804
MIRT000980	hsa-miR-34a-5p	5.0	27836543
MIRT000980	hsa-miR-34a-5p	5.0	27836543
MIRT732549	hsa-miR-106a-3p	RNA-seq	33037409
MIRT733314	hsa-miR-145-5p	qRT-PCR	32490599
MIRT736502	hsa-miR-15a-3p	Microarray	33104965
MIRT736503	hsa-miR-15b-3p	Microarray	33104965
MIRT736504	hsa-miR-16-5p	Microarray	33104965
MIRT737009	hsa-miR-106b-5p	qRT-PCR	33430425
MIRT737013	hsa-miR-93-5p	qRT-PCR	33430425
MIRT737465	hsa-miR-493-5p	Microarray, RNA-seq, qRT-PCR	31883160
MIRT020415	hsa-miR-29c-3p	PAR-CLIP	22012620
MIRT006135	hsa-miR-29a-3p	PAR-CLIP	22012620
MIRT027239	hsa-miR-29b-3p	PAR-CLIP	22012620
MIRT535775	hsa-miR-4686	PAR-CLIP	22012620
MIRT535774	hsa-miR-4491	PAR-CLIP	22012620
MIRT535773	hsa-miR-4657	PAR-CLIP	22012620
MIRT535772	hsa-miR-299-3p	PAR-CLIP	22012620
MIRT535771	hsa-miR-93-3p	PAR-CLIP	22012620
MIRT535770	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT242905	hsa-miR-1252-5p	PAR-CLIP	22012620
MIRT242904	hsa-miR-767-5p	PAR-CLIP	22012620
MIRT535769	hsa-miR-3135b	PAR-CLIP	22012620
MIRT535768	hsa-miR-1287-5p	PAR-CLIP	22012620
MIRT535767	hsa-miR-3688-5p	PAR-CLIP	22012620
MIRT535766	hsa-miR-891a-3p	PAR-CLIP	22012620
MIRT535765	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT535764	hsa-miR-6071	PAR-CLIP	22012620
MIRT535763	hsa-miR-4642	PAR-CLIP	22012620
MIRT242906	hsa-miR-4503	PAR-CLIP	22012620
MIRT000378	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT535762	hsa-miR-144-3p	PAR-CLIP	22012620
MIRT000378	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT535761	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT535760	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT236115	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT236107	hsa-miR-126-5p	PAR-CLIP	22012620
MIRT535759	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT236108	hsa-miR-331-5p	PAR-CLIP	22012620
MIRT535758	hsa-miR-556-3p	PAR-CLIP	22012620
MIRT236114	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT236116	hsa-miR-6509-5p	PAR-CLIP	22012620
MIRT1167844	hsa-miR-101	CLIP-seq
MIRT1167845	hsa-miR-105	CLIP-seq
MIRT1167846	hsa-miR-1323	CLIP-seq
MIRT1167847	hsa-miR-134	CLIP-seq
MIRT1167848	hsa-miR-144	CLIP-seq
MIRT1167849	hsa-miR-145	CLIP-seq
MIRT1167850	hsa-miR-1915	CLIP-seq
MIRT1167851	hsa-miR-193a-3p	CLIP-seq
MIRT1167852	hsa-miR-193b	CLIP-seq
MIRT1167853	hsa-miR-198	CLIP-seq
MIRT1167854	hsa-miR-200b	CLIP-seq
MIRT1167855	hsa-miR-200c	CLIP-seq
MIRT1167856	hsa-miR-2355-5p	CLIP-seq
MIRT1167857	hsa-miR-2682	CLIP-seq
MIRT1167858	hsa-miR-3118	CLIP-seq
MIRT1167859	hsa-miR-323-3p	CLIP-seq
MIRT1167860	hsa-miR-34a	CLIP-seq
MIRT1167861	hsa-miR-371b-5p	CLIP-seq
MIRT1167862	hsa-miR-429	CLIP-seq
MIRT1167863	hsa-miR-4328	CLIP-seq
MIRT1167864	hsa-miR-4438	CLIP-seq
MIRT1167865	hsa-miR-449b	CLIP-seq
MIRT1167866	hsa-miR-449c	CLIP-seq
MIRT1167867	hsa-miR-4514	CLIP-seq
MIRT1167868	hsa-miR-4678	CLIP-seq
MIRT1167869	hsa-miR-4692	CLIP-seq
MIRT1167870	hsa-miR-4699-3p	CLIP-seq
MIRT1167871	hsa-miR-4796-3p	CLIP-seq
MIRT1167872	hsa-miR-5095	CLIP-seq
MIRT1167873	hsa-miR-513b	CLIP-seq
MIRT1167874	hsa-miR-520g	CLIP-seq
MIRT1167875	hsa-miR-520h	CLIP-seq
MIRT1167876	hsa-miR-548a-5p	CLIP-seq
MIRT1167877	hsa-miR-548ab	CLIP-seq
MIRT1167878	hsa-miR-548ak	CLIP-seq
MIRT1167879	hsa-miR-548b-5p	CLIP-seq
MIRT1167880	hsa-miR-548c-5p	CLIP-seq
MIRT1167881	hsa-miR-548d-5p	CLIP-seq
MIRT1167882	hsa-miR-548h	CLIP-seq
MIRT1167883	hsa-miR-548i	CLIP-seq
MIRT1167884	hsa-miR-548j	CLIP-seq
MIRT1167885	hsa-miR-548k	CLIP-seq
MIRT1167886	hsa-miR-548l	CLIP-seq
MIRT1167887	hsa-miR-548o	CLIP-seq
MIRT1167888	hsa-miR-548w	CLIP-seq
MIRT1167889	hsa-miR-548y	CLIP-seq
MIRT1167890	hsa-miR-559	CLIP-seq
MIRT1167891	hsa-miR-888	CLIP-seq
MIRT1167892	hsa-miR-889	CLIP-seq
MIRT1167893	hsa-miR-892b	CLIP-seq
MIRT1167894	hsa-miR-943	CLIP-seq
MIRT1167864	hsa-miR-4438	CLIP-seq
MIRT1167872	hsa-miR-5095	CLIP-seq
MIRT2277261	hsa-let-7a	CLIP-seq
MIRT2277262	hsa-let-7b	CLIP-seq
MIRT2277263	hsa-let-7c	CLIP-seq
MIRT2277264	hsa-let-7d	CLIP-seq
MIRT2277265	hsa-let-7e	CLIP-seq
MIRT2277266	hsa-let-7f	CLIP-seq
MIRT2277267	hsa-let-7g	CLIP-seq
MIRT2277268	hsa-let-7i	CLIP-seq
MIRT1167844	hsa-miR-101	CLIP-seq
MIRT2277269	hsa-miR-1265	CLIP-seq
MIRT1167847	hsa-miR-134	CLIP-seq
MIRT1167848	hsa-miR-144	CLIP-seq
MIRT1167849	hsa-miR-145	CLIP-seq
MIRT2277270	hsa-miR-1912	CLIP-seq
MIRT1167851	hsa-miR-193a-3p	CLIP-seq
MIRT1167852	hsa-miR-193b	CLIP-seq
MIRT1167853	hsa-miR-198	CLIP-seq
MIRT1167854	hsa-miR-200b	CLIP-seq
MIRT1167855	hsa-miR-200c	CLIP-seq
MIRT2277271	hsa-miR-202	CLIP-seq
MIRT2277272	hsa-miR-300	CLIP-seq
MIRT1167858	hsa-miR-3118	CLIP-seq
MIRT2277273	hsa-miR-3130-5p	CLIP-seq
MIRT2277274	hsa-miR-3171	CLIP-seq
MIRT1167860	hsa-miR-34a	CLIP-seq
MIRT2277275	hsa-miR-371-5p	CLIP-seq
MIRT2277276	hsa-miR-381	CLIP-seq
MIRT2277277	hsa-miR-3924	CLIP-seq
MIRT2277278	hsa-miR-4268	CLIP-seq
MIRT1167862	hsa-miR-429	CLIP-seq
MIRT1167863	hsa-miR-4328	CLIP-seq
MIRT1167864	hsa-miR-4438	CLIP-seq
MIRT2277279	hsa-miR-4448	CLIP-seq
MIRT2277280	hsa-miR-4458	CLIP-seq
MIRT2277281	hsa-miR-4482	CLIP-seq
MIRT2277282	hsa-miR-4484	CLIP-seq
MIRT1167865	hsa-miR-449b	CLIP-seq
MIRT2277283	hsa-miR-4500	CLIP-seq
MIRT2277284	hsa-miR-4537	CLIP-seq
MIRT2277285	hsa-miR-4666-3p	CLIP-seq
MIRT1167868	hsa-miR-4678	CLIP-seq
MIRT1167870	hsa-miR-4699-3p	CLIP-seq
MIRT2277286	hsa-miR-4764-5p	CLIP-seq
MIRT1167871	hsa-miR-4796-3p	CLIP-seq
MIRT1167872	hsa-miR-5095	CLIP-seq
MIRT1167874	hsa-miR-520g	CLIP-seq
MIRT1167875	hsa-miR-520h	CLIP-seq
MIRT1167876	hsa-miR-548a-5p	CLIP-seq
MIRT1167877	hsa-miR-548ab	CLIP-seq
MIRT1167878	hsa-miR-548ak	CLIP-seq
MIRT1167879	hsa-miR-548b-5p	CLIP-seq
MIRT1167880	hsa-miR-548c-5p	CLIP-seq
MIRT1167881	hsa-miR-548d-5p	CLIP-seq
MIRT1167882	hsa-miR-548h	CLIP-seq
MIRT1167883	hsa-miR-548i	CLIP-seq
MIRT1167884	hsa-miR-548j	CLIP-seq
MIRT1167885	hsa-miR-548k	CLIP-seq
MIRT1167886	hsa-miR-548l	CLIP-seq
MIRT1167888	hsa-miR-548w	CLIP-seq
MIRT1167889	hsa-miR-548y	CLIP-seq
MIRT1167890	hsa-miR-559	CLIP-seq
MIRT2277287	hsa-miR-592	CLIP-seq
MIRT2277288	hsa-miR-597	CLIP-seq
MIRT1167893	hsa-miR-892b	CLIP-seq
MIRT1167894	hsa-miR-943	CLIP-seq
MIRT2277289	hsa-miR-98	CLIP-seq
MIRT1167868	hsa-miR-4678	CLIP-seq
MIRT1167870	hsa-miR-4699-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	14645238
ENO1	Unknown	15382088
HDAC2	Unknown	15382088
HOXA10	Repression	21261500
HOXA9	Activation	21261500
MXI1	Unknown	15382088
NCOR2	Unknown	21212796
PAX5	Activation	9545244
PIAS2	Repression	21123453
SP1	Activation	14567977
SP1	Repression	21123453
SP1	Unknown	22815527
SP3	Activation	14567977
TAL1	Activation	24334727
WT1	Repression	10470095
YBX1	Activation	17072343

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	TAS	3796607
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	17327229
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
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	17327229
GO:0001502	Process	Cartilage condensation	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	10597290
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	3796607
GO:0005515	Function	Protein binding	IPI	10597290, 11593398, 17289033, 18003922, 19111882, 21698133, 23792191, 25175806, 26766587, 27728805, 27837025, 35512704
GO:0005634	Component	Nucleus	IDA	10597290
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	3796607
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	3796607
GO:0008283	Process	Cell population proliferation	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	23308108
GO:0010629	Process	Negative regulation of gene expression	IDA	21796614
GO:0019900	Function	Kinase binding	IPI	27837025
GO:0030324	Process	Lung development	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0043068	Process	Positive regulation of programmed cell death	IEA
GO:0045607	Process	Regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	24391509
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17327229
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048712	Process	Negative regulation of astrocyte differentiation	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0141068	Process	Autosome genomic imprinting	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IC	21796614
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IEA

Other IDs

• MIM: 164840
• HGNC: 7559
• e!Ensembl: ENSG00000134323

Protein

• UniProt ID: P04198
• Protein name: N-myc proto-oncogene protein (Class E basic helix-loop-helix protein 37) (bHLHe37)
• Protein function: Positively regulates the transcription of MYCNOS in neuroblastoma cells.
• PDB: 5G1X, 7ZTL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01056	Myc_N	9 → 372	Myc amino-terminal region	Family
  PF00010	HLH	382 → 434	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the neuronal cells of the cerebrum, neuroblastomas and thyroid tumors (at protein level). {ECO:0000269|PubMed:24391509}.
• Sequence:

  MPSCSTSTMPGMICKNPDLEFDSLQPCFYPDEDDFYFGGPDSTPPGEDIWKKFELLPTPP
  LSPSRGFAEHSSEPPSWVTEMLLENELWGSPAEEDAFGLGGLGGLTPNPVILQDCMWSGF
  SAREKLERAVSEKLQHGRGPPTAGSTAQSPGAGAASPAGRGHGGAAGAGRAGAALPAELA
  HPAAECVDPAVVFPFPVNKREPAPVPAAPASAPAAGPAVASGAGIAAPAGAPGVAPPRPG
  GRQTSGGDHKALSTSGEDTLSDSDDEDDEEEDEEEEIDVVTVEKRRSSSNTKAVTTFTIT
  VRPKNAALGPGRAQSSELILKRCLPIHQQHNYAAPSPYVESEDAPPQKKIKSEASPRPLK
  SVIPPKAKSLSPRNSDSEDSERRRNHNILERQRRNDLRSSFLTLRDHVPELVKNEKAAKV
  VILKKATEYVHSLQAEEHQLLLEKEKLQARQQQLLKKIEHARTC

• Sequence length: 464

Pathways

KEGG:

Transcriptional misregulation in cancer

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Feingold syndrome	Pathogenic; Likely pathogenic	rs104893646, rs104893648	RCV001849263 RCV005089257
Feingold syndrome type 1	Likely pathogenic; Pathogenic	rs2103330255, rs2103323892, rs2103325472, rs1662700407, rs1572217314, rs2103324867, rs2527927539, rs2527938896, rs2103331674, rs780080562, rs2527925687, rs2527927639, rs2527928565, rs104893646, rs104893647, rs104893648, rs121913667, rs113994115, rs1558534266, rs1662848905, rs1553370260, rs1553370918, rs759103701, rs367962377, rs1553370963, rs754137452, rs1572220856, rs1662856733	RCV001822887 RCV001706910 RCV001784686 RCV002226846 RCV002289084 RCV002291476 RCV003455662 RCV003223508 RCV003237315 RCV003985880 RCV003313347 RCV003331568 RCV003387697 RCV000014906 RCV000014907 RCV000014908 RCV000014909 RCV000014910 RCV000014911 RCV003985993 RCV000497372 RCV000497984 RCV000497890 RCV000498569 RCV000498441 RCV000857320 RCV001255745 RCV001029807 RCV001252328
Megalencephaly-polydactyly syndrome	Likely pathogenic; Pathogenic	rs2103324037, rs754137452	RCV003889282 RCV005019095
MYCN-related disorder	Likely pathogenic	rs2527925277, rs2527936786	RCV003419043 RCV003394370
See cases	Likely pathogenic	rs2103324037	RCV003154630

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Alveolar rhabdomyosarcoma	-	rs1057519919	RCV006254009
Bilateral cleft palate	Uncertain significance	rs1553371013	RCV000626880
Double outlet right ventricle	Uncertain significance	rs1553371013	RCV000626880
Intellectual disability	Likely benign	rs1267366929	RCV001252327
Isolated agenesis of gallbladder	Uncertain significance	rs1553371013	RCV000626880
Medulloblastoma non-WNT/non-SHH	-	rs1057519919	RCV006254010
Neoplasm	-	rs1057519919	RCV004668948
Neuroblastoma	-	rs1057519919	RCV006254008
Ventricular septal defect	Uncertain significance	rs1553371013	RCV000626880

Associations from Text Mining
Disease Name	Relationship Type	References
Acute On Chronic Liver Failure	Associate	30771232
Adenocarcinoma	Associate	22389870
Adrenal Gland Neoplasms	Stimulate	25154816, 30793172
Anaplasia	Associate	25749049
Arrhythmias Cardiac	Associate	26387865
Astrocytoma	Associate	21138945, 28453467, 37185778, 37667984
Autism Spectrum Disorder	Associate	32796005
Bone Diseases	Associate	10993641, 35137546
Bone Marrow Diseases	Associate	31685009
Brain Neoplasms	Associate	28453467, 29287594, 31287992
Breast Neoplasms	Associate	14696059, 23307246, 23770854, 25999348, 29287594
Burkitt Lymphoma	Associate	26453442, 31748534
Calcinosis Cutis	Associate	19301388, 24403858, 37169874, 38014922
Carcinogenesis	Associate	11351043, 15632181, 20080624, 20409325, 21112821, 2502519, 25387807, 25475372, 25883214, 26062444, 26249737, 27571165, 28686580, 37543638, 38049564
Carcinogenesis	Stimulate	35867756
Carcinoma	Associate	34312479
Carcinoma Basal Cell	Associate	25855136
Carcinoma Hepatocellular	Associate	28377632, 30092792, 31883160, 31988297, 33929972, 34212175, 40465781
Carcinoma Merkel Cell	Associate	27880818
Carcinoma Neuroendocrine	Associate	36694106
Carcinoma Non Small Cell Lung	Associate	1690210, 26858029
Carcinoma Non Small Cell Lung	Stimulate	27449038
Carcinoma Renal Cell	Associate	23307246
Carcinoma Small Cell	Associate	22586648
Cell Transformation Neoplastic	Stimulate	29328367
Cerebrospinal Fluid Rhinorrhea	Associate	18452568
Chromosome 1p36 Deletion Syndrome	Associate	35137546
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	18068533
Chromosome 2 trisomy 2p	Associate	9391895
Chromosome Aberrations	Associate	23317189, 34108028
Chromosome Aberrations	Stimulate	32281311
Chromosome Duplication	Associate	9391895
Colonic Neoplasms	Associate	2876925
Colorectal Neoplasms	Associate	23307246, 27080994
Complement component 5 deficiency	Stimulate	21533284
Death	Associate	18766186
Diffuse Intrinsic Pontine Glioma	Associate	24297113
Drug Related Side Effects and Adverse Reactions	Associate	24515800, 31088832, 32329693
Embryo Loss	Associate	21112821
Endometrial Neoplasms	Associate	23167388, 28656791
Ependymoma	Associate	11303789, 31414211, 34895332
Esophageal Squamous Cell Carcinoma	Associate	23307246
Ganglioneuroblastoma	Associate	23320395
Glioblastoma	Associate	11351043, 25033601, 28837676, 30356407, 31754113, 32720593, 35099769, 35848447, 8286200
Glioblastoma	Stimulate	23539269
Glioma	Associate	25387807, 27698340, 35099769, 8286200
Glycogen Storage Disease Type IV	Associate	19383347
Graves Ophthalmopathy	Stimulate	38536014
Hepatitis B Chronic	Associate	28202850
Hepatoblastoma	Associate	25416717
Humeral Fractures	Associate	33795387
Humoral Hypercalcemia Of Malignancy	Associate	38040321
Hypomagnesemia primary	Associate	40335697
Hypoxia	Associate	32085516, 35942521
Hypoxia Brain	Associate	35942521
Infections	Associate	29200325
Inflammation	Associate	30771232, 32169869
Kidney Neoplasms	Associate	33155199
Leiomyosarcoma	Associate	29295562
Leukemia	Associate	1954386, 24334727
Leukemia Erythroblastic Acute	Stimulate	29022893
Leukemia Lymphocytic Chronic B Cell	Associate	14730057, 22035742, 31054182
Leukemia Megakaryoblastic Acute	Associate	15180862
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	23651669
Leukemia Myeloid Acute	Associate	1954386, 25924238, 32006898
Liver Cirrhosis	Associate	28202850
Liver Diseases	Associate	25416717
Liver Neoplasms	Associate	31883160
Lung Neoplasms	Associate	28592245
Lymphoma B Cell	Associate	9250147
Lymphoma Mantle Cell	Associate	18391076, 32584970
Macular dystrophy concentric annular	Stimulate	22744966
Mediastinal Cyst	Associate	34972781
Medulloblastoma	Associate	11770900, 11958658, 17465989, 21731748, 22090452, 23659115, 26290144, 2736225, 29343221, 29511348, 31385424, 33172502, 34262099, 40335697
Meningioma	Associate	28453467
Metaplasia	Associate	28731047
Multiple Organ Failure	Associate	30444686
Myeloproliferative Syndrome Transient	Associate	15180862
Myoclonic dystonia	Associate	18391076
Myopathy with Lactic Acidosis Hereditary	Inhibit	25593318
Neonatal hemochromatosis	Associate	33739795
Neoplasm Metastasis	Associate	23019414, 24742640, 27448979, 2869482, 30232224, 32693840, 34779407, 37611092, 38235566
Neoplasm Metastasis	Inhibit	23308108
Neoplasms	Associate	10469139, 10550298, 10604740, 10935481, 11044353, 11464910, 12659670, 14552656, 14696059, 15117961, 15123743, 15382088, 15386308, 15549714, 15644444, 15681479, 16258518, 1649348, 16838325, 17675364, 18004567, 18348317, 18463370, 18504438, 18505919, 18664255, 18923191, 19111882, 19192278, 19301388, 19495417, 19525400, 19661350, 19738985, 19921788, 19924232, 20080637, 20145147, 20179233, 20233711, 20395439, 2056128, 20805302, 20811720, 21109931, 21128244, 21173028, 21304178, 21508638, 21654684, 21731748, 21796439, 21862876, 22067876, 22286068, 23019414, 23091029, 23308108, 23320395, 23358695, 23498719, 2349963, 23658294, 23887631, 23901000, 24173829, 2426708, 24349301, 24470553, 24509483, 2454580, 24603328, 25017515, 2502519, 25416717, 25475372, 25477524, 25749049, 2584426, 26338179, 26466568, 2657399, 26673823, 26683771, 26858029, 26859456, 26910568, 27080994, 27126562, 27155049, 27448979, 27449038, 27599694, 28032389, 28211617, 2832725, 28377632, 28383813, 28549783, 28560387, 2869482, 28696504, 28837676, 29466962, 29737901, 29755120, 29784674, 30232224, 3034978, 30444686, 30894746, 31088832, 31343784, 31511046, 31602824, 31624245, 31685009, 31988297, 32087738, 32191268, 32210275, 32346009, 32409685, 32483461, 32492633, 32693840, 32786875, 32896084, 32903140, 33190090, 33314708, 3348945, 33502920, 33739795, 33741928, 33795387, 34016720, 34110923, 3437890, 34552068, 34779407, 34864569, 34884931, 35099769, 35617957, 35867756, 36436754, 36539767, 36749880, 37142586, 37402719, 37536559, 37541765, 3796607, 37991019, 38035110, 38061356, 38141254, 39895484, 8093685, 8441429, 8532000, 8795581, 8932344, 8969225, 9250147, 9516852, 9667647
Neoplasms	Stimulate	11337354, 19047282, 26035700, 2921345, 35508126, 36970725, 9858540
Neoplasms	Inhibit	19540207, 25190313, 26062444, 27167114, 29202477, 36370852
Nervous System Neoplasms	Associate	21304178
Neuroblastoma	Associate	10081488, 10389972, 10469139, 10550298, 10604740, 10935473, 10993641, 11044353, 11250904, 11337354, 11395384, 11420745, 11464910, 11506492, 11857322, 11953858, 12107114, 12153570, 12192602, 12232763, 12438307, 12450793, 12659670, 12808116, 12910530, 1311721, 1397312, 1448086, 14645238, 14696059, 14767491, 15004408, 15117961, 15161054, 15329919, 15380028, 15382088, 15386308, 15549714, 15632181, 15644444, 15733867, 15802787, 16258518, 1657899, 16618721, 16670717, 17055458, 17156491, 17327229, 17579628, 17601344, 17611083, 1762918, 18004567, 18057715, 18165268, 18278068, 18463370, 18504438, 18583365, 18630505, 18664255, 18766186, 18769732, 18789162, 18996003, 19016768, 1902412, 19047282, 19111882, 19212680, 19301388, 19383347, 19495417, 19525400, 19528451, 19540207, 19615087, 19671766, 19706822, 19711437, 19738985, 19777160, 19885861, 19921788, 19924232, 19960166, 19960435, 19997598, 20007697, 20017904, 20080624, 20080637, 20101214, 2013316, 20144241, 20145147, 20179233, 20180881, 20395439, 20409325, 2056128, 20811720, 21109931, 21128244, 21173028, 2123747, 21302246, 21304178, 21654680, 21654684, 21725357, 21731748, 21768459, 21822304, 21862876, 21922652, 21970883, 22120721, 22123483, 22146831, 22286068, 22294723, 22305495, 22382496, 22619121, 22623531, 22744966, 22927533, 22975311, 23019414, 23047593, 23091029, 23135478, 23152863, 23175188, 23308108, 23317189, 23320395, 23334666, 23341988, 23362253, 23440295, 23462184, 23466651, 2349963, 23531080, 23565812, 23579276, 23621803, 23887631, 23892435, 23901000, 23941992, 24011394, 24173829, 24205241, 2426708, 24293393, 24349301, 24403858, 24439602, 24515800, 2454580, 24556696, 24586304, 24586395, 24691684, 24742640, 24788776, 2481662, 24931722, 24952595, 2501244, 25013904, 25017515, 25154816, 25164011, 25266063, 25277194, 25292042, 25323222, 25416717, 25475372, 25477524, 25502557, 25563294, 25593318, 2566996, 25711230, 25730103, 2582423, 2584426, 25860940, 25880909, 25883214, 25896758, 25951238, 2601700, 26029996, 26035700, 26062444, 26123663, 26156430, 26309160, 26387865, 26466568, 26468016, 26474287, 26482175, 26517508, 26537256, 26673823, 26683771, 26709890, 26844271, 26859456, 26864375, 26895110, 26910568, 26943308, 26959748, 27167114, 27224546, 27297102, 27448979, 27513929, 27517149, 2753147, 27531891, 27571165, 27599694, 27683112, 27764804, 27837025, 27888620, 27894074, 27919448, 28035057, 28187790, 28192521, 28252645, 2832725, 28350380, 28423360, 28521285, 28525978, 28560387, 28586032, 28591696, 28602975, 28686580, 2869488, 28696504, 28887399, 28924153, 28984200, 2900826, 29091799, 29202477, 2921345, 29247836, 29262328, 29322842, 29328367, 29353549, 29379199, 29426276, 29466962, 29505958, 29510988, 29603574, 29678897, 29751783, 29755120, 29784674, 29871587, 2987858, 30021854, 3006024, 30135355, 30213983, 30451831, 30483774, 30691436, 30724400, 30741995, 30755485, 30789735, 30793172, 30836897, 30894746, 30952905, 31088832, 31115156, 31128432, 31255282, 31313541, 31316100, 31362335, 31365300, 31511046, 31602824, 31614113, 31624245, 31672841, 31695155, 31885773, 32085516, 32087738, 32169869, 32237073, 32240058, 32281311, 32286315, 32295184, 32329693, 32346009, 32409685, 32415892, 32483461, 32492633, 32569234, 32593299, 32707690, 32757706, 32788584, 32796005, 32824929, 32858250, 32896084, 32903140, 32945147, 32966884, 32979173, 33000697, 33016930, 33046535, 33056981, 33172452, 33199677, 33252831, 33390782, 33537818, 33739795, 33806217, 33883167, 34011924, 34016720, 34108028, 34110923, 34116676, 34262099, 34289065, 34331515, 34522028, 34565342, 34751044, 34772733, 34779407, 34794856, 34807483, 34847775, 34884931, 34893606, 34937609, 34972781, 35008802, 35018218, 35137546, 35296644, 35484422, 35563171, 35636260, 35655142, 35764946, 35820898, 35850708, 35859155, 35892165, 35942521, 36029541, 36130928, 36207403, 36209521, 36311753, 36370852, 36396668, 36419120, 36436754, 36445966, 36446940, 36539767, 36571449, 36572864, 36598365, 36601748, 36675163, 36695333, 36708875, 36749880, 36882436, 36923280, 36982482, 36989355, 37161925, 37175848, 37230388, 37301315, 37402719, 37463886, 37543638, 37545226, 37611092, 37741985, 37762082, 37888971, 37894922, 37904225, 37973789, 37991019, 38007466, 38014648, 38014922, 38035110, 38049564, 38061356, 3858848, 39215128, 39217334, 39255063, 39289439, 39389992, 39511250, 39519243, 40108662, 6589638, 7684192, 7738754, 7767905, 8093685, 8121803, 8123471, 8202521, 8256847, 8264643, 8531999, 8532000, 8577710, 8792852, 8795581, 8969225, 8969226, 8980382, 9197532, 9391895, 9649137, 9667647, 9694872, 9750192
Neuroblastoma	Stimulate	21194500, 21293059, 25081755, 33525507, 9858540
Neuroblastoma	Inhibit	33737337
Neuroectodermal Tumors Primitive	Associate	18452568, 19725831, 24470553, 29092957
Neuroectodermal Tumors Primitive Peripheral	Associate	10882752
Neuroendocrine Tumors	Associate	22389870, 29092957, 33144445
Oculodigitoesophagoduodenal syndrome	Associate	34737199
Oncogene Addiction	Stimulate	36494469
Ovarian Diseases	Associate	36206301
Ovarian Neoplasms	Associate	21533284, 32660514, 37793886
Pancreatic Neoplasms	Associate	23307246
Parkinson Disease	Associate	15549714
Peripheral Nervous System Neoplasms	Associate	22744966
Personality Disorders	Associate	11464910, 2349963, 25880909, 26910568
Pheochromocytoma	Associate	40190189
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	1954386, 28671688
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	24334727, 35974102
Primary Myelofibrosis	Associate	27341078
Prodromal Symptoms	Associate	10993641, 35820898, 36749880
Prolactinoma	Associate	29987187
Prostatic Neoplasms	Associate	22389870, 23358695, 30232224, 33037409, 34523032, 37142586, 37385990
Prostatic Neoplasms	Stimulate	35269731, 36970725
Prostatic Neoplasms Castration Resistant	Associate	33771885
Prostatitis	Associate	22389870
Pulmonary Blastoma	Associate	38235566
Retinoblastoma	Associate	23498719, 24509483, 2476248, 25252974, 26288838, 27126562, 27155049, 28211617, 30061186, 30584916, 32191268, 33270844, 35867756, 36940616, 37191489, 37239954, 37536559, 38040321, 39738380, 9694872
Rhabdomyosarcoma	Associate	10935481, 21731748, 29466962
Rhabdomyosarcoma	Stimulate	11481483
Rhabdomyosarcoma Alveolar	Associate	29466962
Rupture	Associate	32293329
Sarcoma Synovial	Associate	17464317
Sepsis	Associate	18766186
Small Cell Lung Carcinoma	Stimulate	12107114
Small Cell Lung Carcinoma	Associate	23716474, 2456019, 27105536, 27449038, 2869482, 29466962, 3034978
Spinal Cord Diseases	Associate	32641156
Squamous Cell Carcinoma of Head and Neck	Associate	2502519, 36639776
Thoracic Neoplasms	Inhibit	25154816
Thyroid Carcinoma Anaplastic	Associate	36983070
Thyroid Neoplasms	Associate	23307246
Triple Negative Breast Neoplasms	Associate	37278879
Urinary Bladder Neoplasms	Associate	26249737
Wilms Tumor	Associate	20332316, 25190313, 2537832, 25749049, 26274016, 28825729, 30155617, 31343784, 35578692
Wilms Tumor	Stimulate	22067876