MGA (MAX dimerization protein MGA)

Gene

• Entrez ID: 23269
• Gene name: MAX dimerization protein MGA
• Gene symbol: MGA
• Synonyms (NCBI Gene): MAD5, MXD5, POF26
• Chromosome: 15
• Chromosome location: 15q15.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1595889508	G>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018623	hsa-miR-335-5p	Microarray	18185580
MIRT030956	hsa-miR-21-5p	Microarray	17072344
MIRT030956	hsa-miR-21-5p	Microarray	21826097
MIRT030956	hsa-miR-21-5p	Microarray	17478730
MIRT1146647	hsa-miR-103a	CLIP-seq
MIRT1146648	hsa-miR-107	CLIP-seq
MIRT1146649	hsa-miR-1185	CLIP-seq
MIRT1146650	hsa-miR-1200	CLIP-seq
MIRT1146651	hsa-miR-1208	CLIP-seq
MIRT1146652	hsa-miR-1237	CLIP-seq
MIRT1146653	hsa-miR-1245	CLIP-seq
MIRT1146654	hsa-miR-1248	CLIP-seq
MIRT1146655	hsa-miR-1257	CLIP-seq
MIRT1146656	hsa-miR-1258	CLIP-seq
MIRT1146657	hsa-miR-1276	CLIP-seq
MIRT1146658	hsa-miR-1284	CLIP-seq
MIRT1146659	hsa-miR-134	CLIP-seq
MIRT1146660	hsa-miR-139-5p	CLIP-seq
MIRT1146661	hsa-miR-15a	CLIP-seq
MIRT1146662	hsa-miR-15b	CLIP-seq
MIRT1146663	hsa-miR-16	CLIP-seq
MIRT1146664	hsa-miR-1914	CLIP-seq
MIRT1146665	hsa-miR-195	CLIP-seq
MIRT1146666	hsa-miR-200b	CLIP-seq
MIRT1146667	hsa-miR-200c	CLIP-seq
MIRT1146668	hsa-miR-29a	CLIP-seq
MIRT1146669	hsa-miR-29b	CLIP-seq
MIRT1146670	hsa-miR-29c	CLIP-seq
MIRT1146671	hsa-miR-3074-5p	CLIP-seq
MIRT1146672	hsa-miR-3118	CLIP-seq
MIRT1146673	hsa-miR-3144-3p	CLIP-seq
MIRT1146674	hsa-miR-3150a-3p	CLIP-seq
MIRT1146675	hsa-miR-3152-3p	CLIP-seq
MIRT1146676	hsa-miR-3153	CLIP-seq
MIRT1146677	hsa-miR-3163	CLIP-seq
MIRT1146678	hsa-miR-3164	CLIP-seq
MIRT1146679	hsa-miR-3171	CLIP-seq
MIRT1146680	hsa-miR-3175	CLIP-seq
MIRT1146681	hsa-miR-3177-3p	CLIP-seq
MIRT1146682	hsa-miR-3180-5p	CLIP-seq
MIRT1146683	hsa-miR-3187-3p	CLIP-seq
MIRT1146684	hsa-miR-3189-5p	CLIP-seq
MIRT1146685	hsa-miR-326	CLIP-seq
MIRT1146686	hsa-miR-330-5p	CLIP-seq
MIRT1146687	hsa-miR-3591-5p	CLIP-seq
MIRT1146688	hsa-miR-3605-5p	CLIP-seq
MIRT1146689	hsa-miR-3606	CLIP-seq
MIRT1146690	hsa-miR-3622a-5p	CLIP-seq
MIRT1146691	hsa-miR-3653	CLIP-seq
MIRT1146692	hsa-miR-3658	CLIP-seq
MIRT1146693	hsa-miR-3660	CLIP-seq
MIRT1146694	hsa-miR-3662	CLIP-seq
MIRT1146695	hsa-miR-3663-5p	CLIP-seq
MIRT1146696	hsa-miR-3665	CLIP-seq
MIRT1146697	hsa-miR-3670	CLIP-seq
MIRT1146698	hsa-miR-3671	CLIP-seq
MIRT1146699	hsa-miR-3679-5p	CLIP-seq
MIRT1146700	hsa-miR-3682-5p	CLIP-seq
MIRT1146701	hsa-miR-3942-3p	CLIP-seq
MIRT1146702	hsa-miR-3944-5p	CLIP-seq
MIRT1146703	hsa-miR-424	CLIP-seq
MIRT1146704	hsa-miR-4252	CLIP-seq
MIRT1146705	hsa-miR-4255	CLIP-seq
MIRT1146706	hsa-miR-4269	CLIP-seq
MIRT1146707	hsa-miR-429	CLIP-seq
MIRT1146708	hsa-miR-4292	CLIP-seq
MIRT1146709	hsa-miR-4308	CLIP-seq
MIRT1146710	hsa-miR-4311	CLIP-seq
MIRT1146711	hsa-miR-4318	CLIP-seq
MIRT1146712	hsa-miR-4323	CLIP-seq
MIRT1146713	hsa-miR-4324	CLIP-seq
MIRT1146714	hsa-miR-4423-3p	CLIP-seq
MIRT1146715	hsa-miR-4435	CLIP-seq
MIRT1146716	hsa-miR-4446-5p	CLIP-seq
MIRT1146717	hsa-miR-4459	CLIP-seq
MIRT1146718	hsa-miR-4461	CLIP-seq
MIRT1146719	hsa-miR-4468	CLIP-seq
MIRT1146720	hsa-miR-4490	CLIP-seq
MIRT1146721	hsa-miR-4526	CLIP-seq
MIRT1146722	hsa-miR-4527	CLIP-seq
MIRT1146723	hsa-miR-4645-3p	CLIP-seq
MIRT1146724	hsa-miR-4645-5p	CLIP-seq
MIRT1146725	hsa-miR-4667-5p	CLIP-seq
MIRT1146726	hsa-miR-4668-5p	CLIP-seq
MIRT1146727	hsa-miR-4673	CLIP-seq
MIRT1146728	hsa-miR-4693-5p	CLIP-seq
MIRT1146729	hsa-miR-4695-5p	CLIP-seq
MIRT1146730	hsa-miR-4698	CLIP-seq
MIRT1146731	hsa-miR-4699-3p	CLIP-seq
MIRT1146732	hsa-miR-4700-5p	CLIP-seq
MIRT1146733	hsa-miR-4701-5p	CLIP-seq
MIRT1146734	hsa-miR-4729	CLIP-seq
MIRT1146735	hsa-miR-4733-3p	CLIP-seq
MIRT1146736	hsa-miR-4755-5p	CLIP-seq
MIRT1146737	hsa-miR-4765	CLIP-seq
MIRT1146738	hsa-miR-4793-5p	CLIP-seq
MIRT1146739	hsa-miR-4796-5p	CLIP-seq
MIRT1146740	hsa-miR-485-5p	CLIP-seq
MIRT1146741	hsa-miR-497	CLIP-seq
MIRT1146742	hsa-miR-498	CLIP-seq
MIRT1146743	hsa-miR-513a-3p	CLIP-seq
MIRT1146744	hsa-miR-515-3p	CLIP-seq
MIRT1146745	hsa-miR-519e	CLIP-seq
MIRT1146746	hsa-miR-522	CLIP-seq
MIRT1146747	hsa-miR-543	CLIP-seq
MIRT1146748	hsa-miR-544b	CLIP-seq
MIRT1146749	hsa-miR-548ac	CLIP-seq
MIRT1146750	hsa-miR-548ae	CLIP-seq
MIRT1146751	hsa-miR-548aj	CLIP-seq
MIRT1146752	hsa-miR-548am	CLIP-seq
MIRT1146753	hsa-miR-548an	CLIP-seq
MIRT1146754	hsa-miR-548d-3p	CLIP-seq
MIRT1146755	hsa-miR-548s	CLIP-seq
MIRT1146756	hsa-miR-548x	CLIP-seq
MIRT1146757	hsa-miR-548z	CLIP-seq
MIRT1146758	hsa-miR-564	CLIP-seq
MIRT1146759	hsa-miR-568	CLIP-seq
MIRT1146760	hsa-miR-569	CLIP-seq
MIRT1146761	hsa-miR-581	CLIP-seq
MIRT1146762	hsa-miR-582-5p	CLIP-seq
MIRT1146763	hsa-miR-583	CLIP-seq
MIRT1146764	hsa-miR-586	CLIP-seq
MIRT1146765	hsa-miR-588	CLIP-seq
MIRT1146766	hsa-miR-593	CLIP-seq
MIRT1146767	hsa-miR-601	CLIP-seq
MIRT1146768	hsa-miR-605	CLIP-seq
MIRT1146769	hsa-miR-607	CLIP-seq
MIRT1146770	hsa-miR-633	CLIP-seq
MIRT1146771	hsa-miR-637	CLIP-seq
MIRT1146772	hsa-miR-646	CLIP-seq
MIRT1146773	hsa-miR-657	CLIP-seq
MIRT1146774	hsa-miR-665	CLIP-seq
MIRT1146775	hsa-miR-670	CLIP-seq
MIRT1146776	hsa-miR-671-5p	CLIP-seq
MIRT1146777	hsa-miR-759	CLIP-seq
MIRT1146778	hsa-miR-892a	CLIP-seq
MIRT1146779	hsa-miR-939	CLIP-seq
MIRT1146780	hsa-miR-944	CLIP-seq
MIRT1146660	hsa-miR-139-5p	CLIP-seq
MIRT1146781	hsa-miR-216a	CLIP-seq
MIRT1146782	hsa-miR-4762-5p	CLIP-seq
MIRT1146737	hsa-miR-4765	CLIP-seq
MIRT1146760	hsa-miR-569	CLIP-seq
MIRT1146783	hsa-miR-888	CLIP-seq
MIRT1146691	hsa-miR-3653	CLIP-seq
MIRT1146731	hsa-miR-4699-3p	CLIP-seq
MIRT2041776	hsa-miR-570	CLIP-seq
MIRT1146766	hsa-miR-593	CLIP-seq
MIRT1146780	hsa-miR-944	CLIP-seq
MIRT1146653	hsa-miR-1245	CLIP-seq
MIRT2041777	hsa-miR-205	CLIP-seq
MIRT1146731	hsa-miR-4699-3p	CLIP-seq
MIRT2041778	hsa-miR-494	CLIP-seq
MIRT1146766	hsa-miR-593	CLIP-seq
MIRT1146660	hsa-miR-139-5p	CLIP-seq
MIRT2271359	hsa-miR-3184	CLIP-seq
MIRT1146690	hsa-miR-3622a-5p	CLIP-seq
MIRT2271360	hsa-miR-421	CLIP-seq
MIRT2271361	hsa-miR-423-5p	CLIP-seq
MIRT2271362	hsa-miR-4272	CLIP-seq
MIRT1146714	hsa-miR-4423-3p	CLIP-seq
MIRT1146720	hsa-miR-4490	CLIP-seq
MIRT2271363	hsa-miR-4709-5p	CLIP-seq
MIRT2271364	hsa-miR-548v	CLIP-seq
MIRT2041776	hsa-miR-570	CLIP-seq
MIRT1146762	hsa-miR-582-5p	CLIP-seq
MIRT1146717	hsa-miR-4459	CLIP-seq
MIRT2041776	hsa-miR-570	CLIP-seq
MIRT1146768	hsa-miR-605	CLIP-seq
MIRT2570455	hsa-miR-105	CLIP-seq
MIRT2570456	hsa-miR-1184	CLIP-seq
MIRT2570457	hsa-miR-1205	CLIP-seq
MIRT2570458	hsa-miR-1254	CLIP-seq
MIRT2570459	hsa-miR-1263	CLIP-seq
MIRT2570460	hsa-miR-1275	CLIP-seq
MIRT2570461	hsa-miR-1292	CLIP-seq
MIRT2570462	hsa-miR-144	CLIP-seq
MIRT2570463	hsa-miR-146a	CLIP-seq
MIRT2570464	hsa-miR-146b-5p	CLIP-seq
MIRT2041777	hsa-miR-205	CLIP-seq
MIRT1146668	hsa-miR-29a	CLIP-seq
MIRT1146669	hsa-miR-29b	CLIP-seq
MIRT1146670	hsa-miR-29c	CLIP-seq
MIRT2570465	hsa-miR-3116	CLIP-seq
MIRT2570466	hsa-miR-3122	CLIP-seq
MIRT1146673	hsa-miR-3144-3p	CLIP-seq
MIRT1146676	hsa-miR-3153	CLIP-seq
MIRT2570467	hsa-miR-3158-5p	CLIP-seq
MIRT2570468	hsa-miR-3168	CLIP-seq
MIRT1146682	hsa-miR-3180-5p	CLIP-seq
MIRT2570469	hsa-miR-3183	CLIP-seq
MIRT1146684	hsa-miR-3189-5p	CLIP-seq
MIRT2570470	hsa-miR-335	CLIP-seq
MIRT2570471	hsa-miR-3614-3p	CLIP-seq
MIRT2570472	hsa-miR-3675-3p	CLIP-seq
MIRT2570473	hsa-miR-3679-3p	CLIP-seq
MIRT2570474	hsa-miR-371b-5p	CLIP-seq
MIRT2570475	hsa-miR-3913-5p	CLIP-seq
MIRT2570476	hsa-miR-4263	CLIP-seq
MIRT2570477	hsa-miR-4287	CLIP-seq
MIRT2570478	hsa-miR-4297	CLIP-seq
MIRT1146710	hsa-miR-4311	CLIP-seq
MIRT1146712	hsa-miR-4323	CLIP-seq
MIRT2570479	hsa-miR-4433	CLIP-seq
MIRT1146717	hsa-miR-4459	CLIP-seq
MIRT2570480	hsa-miR-4469	CLIP-seq
MIRT2570481	hsa-miR-451b	CLIP-seq
MIRT2570482	hsa-miR-4521	CLIP-seq
MIRT2570483	hsa-miR-4635	CLIP-seq
MIRT2570484	hsa-miR-4661-5p	CLIP-seq
MIRT2570485	hsa-miR-4665-5p	CLIP-seq
MIRT1146726	hsa-miR-4668-5p	CLIP-seq
MIRT2570486	hsa-miR-4681	CLIP-seq
MIRT2570487	hsa-miR-4685-3p	CLIP-seq
MIRT2570488	hsa-miR-4686	CLIP-seq
MIRT1146729	hsa-miR-4695-5p	CLIP-seq
MIRT2570489	hsa-miR-4723-3p	CLIP-seq
MIRT2570490	hsa-miR-4725-5p	CLIP-seq
MIRT1146735	hsa-miR-4733-3p	CLIP-seq
MIRT2570491	hsa-miR-4738-3p	CLIP-seq
MIRT2570492	hsa-miR-4768-3p	CLIP-seq
MIRT2570493	hsa-miR-4790-3p	CLIP-seq
MIRT1146740	hsa-miR-485-5p	CLIP-seq
MIRT2041778	hsa-miR-494	CLIP-seq
MIRT1146742	hsa-miR-498	CLIP-seq
MIRT2570494	hsa-miR-504	CLIP-seq
MIRT1146743	hsa-miR-513a-3p	CLIP-seq
MIRT2570495	hsa-miR-526b	CLIP-seq
MIRT2570496	hsa-miR-548a-5p	CLIP-seq
MIRT2570497	hsa-miR-548ab	CLIP-seq
MIRT2570498	hsa-miR-548ad	CLIP-seq
MIRT2570499	hsa-miR-548ak	CLIP-seq
MIRT2570500	hsa-miR-548b-5p	CLIP-seq
MIRT2570501	hsa-miR-548c-5p	CLIP-seq
MIRT2570502	hsa-miR-548d-5p	CLIP-seq
MIRT2570503	hsa-miR-548h	CLIP-seq
MIRT2570504	hsa-miR-548i	CLIP-seq
MIRT2570505	hsa-miR-548j	CLIP-seq
MIRT2570506	hsa-miR-548k	CLIP-seq
MIRT2570507	hsa-miR-548l	CLIP-seq
MIRT2570508	hsa-miR-548w	CLIP-seq
MIRT2570509	hsa-miR-548y	CLIP-seq
MIRT2570510	hsa-miR-549	CLIP-seq
MIRT2570511	hsa-miR-559	CLIP-seq
MIRT2570512	hsa-miR-580	CLIP-seq
MIRT2570513	hsa-miR-587	CLIP-seq
MIRT2570514	hsa-miR-589	CLIP-seq
MIRT2570515	hsa-miR-614	CLIP-seq
MIRT2570516	hsa-miR-619	CLIP-seq
MIRT2570517	hsa-miR-635	CLIP-seq
MIRT2570518	hsa-miR-642b	CLIP-seq
MIRT2570519	hsa-miR-660	CLIP-seq
MIRT1146774	hsa-miR-665	CLIP-seq
MIRT2570520	hsa-miR-875-5p	CLIP-seq
MIRT2570521	hsa-miR-9	CLIP-seq
MIRT2570522	hsa-miR-924	CLIP-seq
MIRT1146780	hsa-miR-944	CLIP-seq
MIRT1146717	hsa-miR-4459	CLIP-seq
MIRT2570456	hsa-miR-1184	CLIP-seq
MIRT2570457	hsa-miR-1205	CLIP-seq
MIRT2570458	hsa-miR-1254	CLIP-seq
MIRT2570459	hsa-miR-1263	CLIP-seq
MIRT2570460	hsa-miR-1275	CLIP-seq
MIRT2570461	hsa-miR-1292	CLIP-seq
MIRT2570462	hsa-miR-144	CLIP-seq
MIRT2570463	hsa-miR-146a	CLIP-seq
MIRT2570464	hsa-miR-146b-5p	CLIP-seq
MIRT2041777	hsa-miR-205	CLIP-seq
MIRT2570465	hsa-miR-3116	CLIP-seq
MIRT1146676	hsa-miR-3153	CLIP-seq
MIRT2570467	hsa-miR-3158-5p	CLIP-seq
MIRT2570468	hsa-miR-3168	CLIP-seq
MIRT2570469	hsa-miR-3183	CLIP-seq
MIRT2570471	hsa-miR-3614-3p	CLIP-seq
MIRT2570473	hsa-miR-3679-3p	CLIP-seq
MIRT2570474	hsa-miR-371b-5p	CLIP-seq
MIRT2570476	hsa-miR-4263	CLIP-seq
MIRT2570477	hsa-miR-4287	CLIP-seq
MIRT2570478	hsa-miR-4297	CLIP-seq
MIRT1146710	hsa-miR-4311	CLIP-seq
MIRT2570479	hsa-miR-4433	CLIP-seq
MIRT1146717	hsa-miR-4459	CLIP-seq
MIRT2570480	hsa-miR-4469	CLIP-seq
MIRT2570483	hsa-miR-4635	CLIP-seq
MIRT2570485	hsa-miR-4665-5p	CLIP-seq
MIRT1146726	hsa-miR-4668-5p	CLIP-seq
MIRT2570487	hsa-miR-4685-3p	CLIP-seq
MIRT2570488	hsa-miR-4686	CLIP-seq
MIRT2570489	hsa-miR-4723-3p	CLIP-seq
MIRT2570490	hsa-miR-4725-5p	CLIP-seq
MIRT2570492	hsa-miR-4768-3p	CLIP-seq
MIRT2570493	hsa-miR-4790-3p	CLIP-seq
MIRT2041778	hsa-miR-494	CLIP-seq
MIRT2570494	hsa-miR-504	CLIP-seq
MIRT2570495	hsa-miR-526b	CLIP-seq
MIRT2570498	hsa-miR-548ad	CLIP-seq
MIRT2570510	hsa-miR-549	CLIP-seq
MIRT2570512	hsa-miR-580	CLIP-seq
MIRT2570513	hsa-miR-587	CLIP-seq
MIRT2570514	hsa-miR-589	CLIP-seq
MIRT2570515	hsa-miR-614	CLIP-seq
MIRT2570517	hsa-miR-635	CLIP-seq
MIRT2570519	hsa-miR-660	CLIP-seq
MIRT2570521	hsa-miR-9	CLIP-seq
MIRT2570522	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
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	IEA
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:0001708	Process	Cell fate specification	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20936779, 21988832, 24981860, 25609649, 27705803, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0032991	Component	Protein-containing complex	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0071339	Component	MLL1 complex	IBA
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IEA

Other IDs

• MIM: 616061
• HGNC: 14010
• e!Ensembl: ENSG00000174197

Protein

• UniProt ID: Q8IWI9
• Protein name: MAX gene-associated protein (MAX dimerization protein 5)
• Protein function: Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regul
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	77 → 260	T-box	Domain
  PF16059	DUF4801	1041 → 1087	Domain of unknown function (DUF4801)	Family
  PF00010	HLH	2424 → 2475	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in germ cells and granulosa cells. {ECO:0000269|PubMed:39545409}.
• Sequence:

  MEEKQQIILANQDGGTVAGAAPTFFVILKQPGNGKTDQGILVTNQDACALASSVSSPVKS
  KGKICLPADCTVGGITVTLDNNSMWNEFYHRSTEMILTKQGRRMFPYCRYWITGLDSNLK
  YILVMDISPVDNHRYKWNGRWWEPSGKAEPHVLGRVFIHPESPSTGHYWMHQPVSFYKLK
  LTNNTLDQEGHIILHSMHRYLPRLHLVPAEKAVEVIQLNGPGVHTFTFPQTEFFAVTAYQ
  NIQITQLKIDYNPFAKGFRDDGLNNKPQRDGKQKNSSDQEGNNISSSSGHRVRLTEGQGS
  EIQPGDLDPLSRGHETSGKGLEKTSLNIKRDFLGFMDTDSALSEVPQLKQEISECLIASS
  FEDDSRVASPLDQNGSFNVVIKEEPLDDYDYELGECPEGVTVKQEETDEETDVYSNSDDD
  PILEKQLKRHNKVDNPEADHLSSKWLPSSPSGVAKAKMFKLDTGKMPVVYLEPCAVTRST
  VKISELPDNMLSTSRKDKSSMLAELEYLPTYIENSNETAFCLGKESENGLRKHSPDLRVV
  QKYPLLKEPQWKYPDISDSISTERILDDSKDSVGDSLSGKEDLGRKRTTMLKIATAAKVV
  NANQNASPNVPGKRGRPRKLKLCKAGRPPKNTGKSLISTKNTPVSPGSTFPDVKPDLEDV
  DGVLFVSFESKEALDIHAVDGTTEESSSLQASTTNDSGYRARISQLEKELIEDLKTLRHK
  QVIHPGLQEVGLKLNSVDPTMSIDLKYLGVQLPLAPATSFPFWNLTGTNPASPDAGFPFV
  SRTGKTNDFTKIKGWRGKFHSASASRNEGGNSESSLKNRSAFCSDKLDEYLENEGKLMET
  SMGFSSNAPTSPVVYQLPTKSTSYVRTLDSVLKKQSTISPSTSYSLKPHSVPPVSRKAKS
  QNRQATFSGRTKSSYKSILPYPVSPKQKYSHVILGDKVTKNSSGIISENQANNFVVPTLD
  ENIFPKQISLRQAQQQQQQQQGSRPPGLSKSQVKLMDLEDCALWEGKPRTYITEERADVS
  LTTLLTAQASLKTKPIHTIIRKRAPPCNNDFCRLGCVCSSLALEKRQPAHCRRPDCMFGC
  TCLKRKVVLVKGGSKTKHFQRKAAHRDPVFYDTLGEEAREEEEGIREEEEQLKEKKKRKK
  LEYTICETEPEQPVRHYPLWVKVEGEVDPEPVYIPTPSVIEPMKPLLLPQPEVLSPTVKG
  KLLTGIKSPRSYTPKPNPVIREEDKDPVYLYFESMMTCARVRVYERKKEDQRQPSSSSSP
  SPSFQQQTSCHSSPENHNNAKEPDSEQQPLKQLTCDLEDDSDKLQEKSWKSSCNEGESSS
  TSYMHQRSPGGPTKLIEIISDCNWEEDRNKILSILSQHINSNMPQSLKVGSFIIELASQR
  KSRGEKNPPVYSSRVKISMPSCQDQDDMAEKSGSETPDGPLSPGKMEDISPVQTDALDSV
  RERLHGGKGLPFYAGLSPAGKLVAYKRKPSSSTSGLIQVASNAKVAASRKPRTLLPSTSN
  SKMASSSGTATNRPGKNLKAFVPAKRPIAARPSPGGVFTQFVMSKVGALQQKIPGVSTPQ
  TLAGTQKFSIRPSPVMVVTPVVSSEPVQVCSPVTAAVTTTTPQVFLENTTAVTPMTAISD
  VETKETTYSSGATTTGVVEVSETNTSTSVTSTQSTATVNLTKTTGITTPVASVAFPKSLV
  ASPSTITLPVASTASTSLVVVTAAASSSMVTTPTSSLGSVPIILSGINGSPPVSQRPENA
  AQIPVATPQVSPNTVKRAGPRLLLIPVQQGSPTLRPVSNTQLQGHRMVLQPVRSPSGMNL
  FRHPNGQIVQLLPLHQLRGSNTQPNLQPVMFRNPGSVMGIRLPAPSKPSETPPSSTSSSA
  FSVMNPVIQAVGSSSAVNVITQAPSLLSSGASFVSQAGTLTLRISPPEPQSFASKTGSET
  KITYSSGGQPVGTASLIPLQSGSFALLQLPGQKPVPSSILQHVASLQMKRESQNPDQKDE
  TNSIKREQETKKVLQSEGEAVDPEANVIKQNSGAATSEETLNDSLEDRGDHLDEECLPEE
  GCATVKPSEHSCITGSHTDQDYKDVNEEYGARNRKSSKEKVAVLEVRTISEKASNKTVQN
  LSKVQHQKLGDVKVEQQKGFDNPEENSSEFPVTFKEESKFELSGSKVMEQQSNLQPEAKE
  KECGDSLEKDRERWRKHLKGPLTRKCVGASQECKKEADEQLIKETKTCQENSDVFQQEQG
  ISDLLGKSGITEDARVLKTECDSWSRISNPSAFSIVPRRAAKSSRGNGHFQGHLLLPGEQ
  IQPKQEKKGGRSSADFTVLDLEEDDEDDNEKTDDSIDEIVDVVSDYQSEEVDDVEKNNCV
  EYIEDDEEHVDIETVEELSEEINVAHLKTTAAHTQSFKQPSCTHISADEKAAERSRKAPP
  IPLKLKPDYWSDKLQKEAEAFAYYRRTHTANERRRRGEMRDLFEKLKITLGLLHSSKVSK
  SLILTRAFSEIQGLTDQADKLIGQKNLLTRKRNILIRKVSSLSGKTEEVVLKKLEYIYAK
  QQALEAQKRKKKMGSDEFDISPRISKQQEGSSASSVDLGQMFINNRRGKPLILSRKKDQA
  TENTSPLNTPHTSANLVMTPQGQLLTLKGPLFSGPVVAVSPDLLESDLKPQVAGSAVALP
  ENDDLFMMPRIVNVTSLATEGGLVDMGGSKYPHEVPDSKPSDHLKDTVRNEDNSLEDKGR
  ISSRGNRDGRVTLGPTQVFLANKDSGYPQIVDVSNMQKAQEFLPKKISGDMRGIQYKWKE
  SESRGERVKSKDSSFHKLKMKDLKDSSIEMELRKVTSAIEEAALDSSELLTNMEDEDDTD
  ETLTSLLNEIAFLNQQLNDDSVGLAELPSSMDTEFPGDARRAFISKVPPGSRATFQVEHL
  GTGLKELPDVQGESDSISPLLLHLEDDDFSENEKQLAEPASEPDVLKIVIDSEIKDSLLS
  NKKAIDGGKNTSGLPAEPESVSSPPTLHMKTGLENSNSTDTLWRPMPKLAPLGLKVANPS
  SDADGQSLKVMPCLAPIAAKVGSVGHKMNLTGNDQEGRESKVMPTLAPVVAKLGNSGASP
  SSAGK

• Sequence length: 3065

Pathways

KEGG:

Polycomb repressive complex

Reactome:

Transcriptional Regulation by E2F6

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Multiple myeloma	Likely pathogenic	rs1595889508	RCV000984110

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Uterine corpus endometrial carcinoma	Benign	rs140104446	RCV005913189

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	25079552, 31862696
Breast Neoplasms	Associate	36424660
Carcinoma Basal Cell	Associate	36309102
Ectrodactyly cardiopathy dysmorphism	Associate	33579193
Endometrial Neoplasms	Associate	35401936
Epstein Barr Virus Infections	Associate	31822801
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240
Gastrointestinal Stromal Tumors	Associate	31570771
Heart Diseases	Associate	33579193
Hodgkin Disease	Associate	34807923
Inflammatory Breast Neoplasms	Associate	25928084
Leukemia Lymphocytic Chronic B Cell	Associate	23047824, 27060156
Leukemia Myeloid Acute	Associate	33560403
Lymphoma Extranodal NK T Cell	Associate	31822801
Lymphoma Large B Cell Diffuse	Associate	32469082
Muscular Diseases	Associate	33579193
Neoplasm Metastasis	Associate	38085333
Neoplasms	Inhibit	24413735, 24714652, 29596783, 31862696
Neoplasms	Associate	30723300, 31427592, 34232599, 35170141, 38085333
Retinoblastoma	Associate	32139107
Sarcoma	Associate	30552129, 30723300, 34232599
Small Cell Lung Carcinoma	Associate	34493659