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

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Multiple myeloma	Likely pathogenic	rs1595889508	RCV000984110	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREMATURE OVARIAN FAILURE 26	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17163411, 18253069, 21939647		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36424660	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	36309102	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31729175		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	24413735		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23047824, 30150207		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35401936	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31570771		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	31570771	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33579193	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	34807923	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33560403	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Extranodal NK-T-Cell	Lymphoma	BEFREE	31822801		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17163411, 18253069, 21939647		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31427592		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	BEFREE	31729175		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21939647, 30673871		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24362264		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	24413735		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	Pubtator	32139107	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	30987639		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	24639090		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	30552129, 30723300, 34232599	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31385070		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	30723300		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	24362264		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34493659	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	26192917		★☆☆☆☆ Found in Text Mining only