POLA2 (DNA polymerase alpha 2, accessory subunit)

Gene

• Entrez ID: 23649
• Gene name: DNA polymerase alpha 2, accessory subunit
• Gene symbol: POLA2
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11q13.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001348	hsa-miR-1-3p	pSILAC	18668040
MIRT001348	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT024956	hsa-miR-215-5p	Microarray	19074876
MIRT026640	hsa-miR-192-5p	Microarray	19074876
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621036	hsa-miR-4284	HITS-CLIP	23824327
MIRT621035	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT649429	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT649428	hsa-miR-3945	HITS-CLIP	23824327
MIRT649427	hsa-miR-4253	HITS-CLIP	23824327
MIRT649426	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666910	hsa-miR-888-3p	HITS-CLIP	23824327
MIRT666909	hsa-miR-4302	HITS-CLIP	23824327
MIRT666908	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT666907	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT666905	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT666906	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT666904	hsa-miR-3117-5p	HITS-CLIP	23824327
MIRT666902	hsa-miR-4513	HITS-CLIP	23824327
MIRT666903	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT666901	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT666900	hsa-miR-4297	HITS-CLIP	23824327
MIRT666899	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT666898	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT666897	hsa-miR-3118	HITS-CLIP	23824327
MIRT666896	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT666895	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT666894	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT666893	hsa-miR-4439	HITS-CLIP	23824327
MIRT666892	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT666891	hsa-miR-3940-3p	HITS-CLIP	23824327
MIRT666890	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT666889	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT666888	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT666887	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT666886	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT666885	hsa-miR-4252	HITS-CLIP	23824327
MIRT666884	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT666883	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT666882	hsa-miR-7703	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT649429	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT621036	hsa-miR-4284	HITS-CLIP	23824327
MIRT621035	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT649427	hsa-miR-4253	HITS-CLIP	23824327
MIRT649426	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT649429	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT621036	hsa-miR-4284	HITS-CLIP	23824327
MIRT621035	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT649428	hsa-miR-3945	HITS-CLIP	23824327
MIRT649427	hsa-miR-4253	HITS-CLIP	23824327
MIRT649426	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT641498	hsa-miR-300	HITS-CLIP	23824327
MIRT641497	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT641496	hsa-miR-4666a-3p	HITS-CLIP	23824327
MIRT641495	hsa-miR-4729	HITS-CLIP	23824327
MIRT641494	hsa-miR-3605-5p	HITS-CLIP	23824327
MIRT641493	hsa-miR-3171	HITS-CLIP	23824327
MIRT641492	hsa-miR-145-3p	HITS-CLIP	23824327
MIRT641491	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT641490	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT641489	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT641488	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT641487	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT641486	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT641485	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT641484	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT641483	hsa-miR-675-3p	HITS-CLIP	23824327
MIRT641482	hsa-miR-297	HITS-CLIP	23824327
MIRT641481	hsa-miR-3149	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621036	hsa-miR-4284	HITS-CLIP	23824327
MIRT621035	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621036	hsa-miR-4284	HITS-CLIP	23824327
MIRT621035	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT649429	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT649428	hsa-miR-3945	HITS-CLIP	23824327
MIRT649427	hsa-miR-4253	HITS-CLIP	23824327
MIRT649426	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666910	hsa-miR-888-3p	HITS-CLIP	23824327
MIRT666909	hsa-miR-4302	HITS-CLIP	23824327
MIRT666908	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT666907	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT666905	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT666906	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT666904	hsa-miR-3117-5p	HITS-CLIP	23824327
MIRT666902	hsa-miR-4513	HITS-CLIP	23824327
MIRT666903	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT666901	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT666900	hsa-miR-4297	HITS-CLIP	23824327
MIRT666899	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT666898	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT666897	hsa-miR-3118	HITS-CLIP	23824327
MIRT666896	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT666895	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT666894	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT666893	hsa-miR-4439	HITS-CLIP	23824327
MIRT666892	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT666891	hsa-miR-3940-3p	HITS-CLIP	23824327
MIRT666890	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT666889	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT666888	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT666887	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT666886	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT666885	hsa-miR-4252	HITS-CLIP	23824327
MIRT666884	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT666883	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT666882	hsa-miR-7703	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT649429	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT621036	hsa-miR-4284	HITS-CLIP	23824327
MIRT621035	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT649427	hsa-miR-4253	HITS-CLIP	23824327
MIRT649426	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT649429	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT621036	hsa-miR-4284	HITS-CLIP	23824327
MIRT621035	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT649428	hsa-miR-3945	HITS-CLIP	23824327
MIRT649427	hsa-miR-4253	HITS-CLIP	23824327
MIRT649426	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT641498	hsa-miR-300	HITS-CLIP	23824327
MIRT641497	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT641496	hsa-miR-4666a-3p	HITS-CLIP	23824327
MIRT641495	hsa-miR-4729	HITS-CLIP	23824327
MIRT641494	hsa-miR-3605-5p	HITS-CLIP	23824327
MIRT641493	hsa-miR-3171	HITS-CLIP	23824327
MIRT641492	hsa-miR-145-3p	HITS-CLIP	23824327
MIRT641491	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT641490	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT641489	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT641488	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT641487	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT641486	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT641485	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT641484	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT641483	hsa-miR-675-3p	HITS-CLIP	23824327
MIRT641482	hsa-miR-297	HITS-CLIP	23824327
MIRT641481	hsa-miR-3149	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT621040	hsa-miR-5684	HITS-CLIP	23824327
MIRT621039	hsa-miR-2392	HITS-CLIP	23824327
MIRT621038	hsa-miR-1265	HITS-CLIP	23824327
MIRT621037	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT621036	hsa-miR-4284	HITS-CLIP	23824327
MIRT621035	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT621034	hsa-miR-7977	HITS-CLIP	23824327
MIRT1247169	hsa-miR-1184	CLIP-seq
MIRT1247170	hsa-miR-1301	CLIP-seq
MIRT1247171	hsa-miR-1913	CLIP-seq
MIRT1247172	hsa-miR-22	CLIP-seq
MIRT1247173	hsa-miR-2467-3p	CLIP-seq
MIRT1247174	hsa-miR-2861	CLIP-seq
MIRT1247175	hsa-miR-324-3p	CLIP-seq
MIRT1247176	hsa-miR-370	CLIP-seq
MIRT1247177	hsa-miR-382	CLIP-seq
MIRT1247178	hsa-miR-3919	CLIP-seq
MIRT1247179	hsa-miR-3925-5p	CLIP-seq
MIRT1247180	hsa-miR-4292	CLIP-seq
MIRT1247181	hsa-miR-4308	CLIP-seq
MIRT1247182	hsa-miR-4418	CLIP-seq
MIRT1247183	hsa-miR-4660	CLIP-seq
MIRT1247184	hsa-miR-4731-5p	CLIP-seq
MIRT1247185	hsa-miR-4749-3p	CLIP-seq
MIRT1247186	hsa-miR-4773	CLIP-seq
MIRT1247187	hsa-miR-4775	CLIP-seq
MIRT1247188	hsa-miR-5047	CLIP-seq
MIRT1247189	hsa-miR-509-3-5p	CLIP-seq
MIRT1247190	hsa-miR-509-5p	CLIP-seq
MIRT1247191	hsa-miR-515-5p	CLIP-seq
MIRT1247192	hsa-miR-922	CLIP-seq
MIRT2072880	hsa-miR-149	CLIP-seq
MIRT2072881	hsa-miR-3064-5p	CLIP-seq
MIRT2072882	hsa-miR-3183	CLIP-seq
MIRT2072883	hsa-miR-3652	CLIP-seq
MIRT1247176	hsa-miR-370	CLIP-seq
MIRT2072884	hsa-miR-4268	CLIP-seq
MIRT1247180	hsa-miR-4292	CLIP-seq
MIRT1247181	hsa-miR-4308	CLIP-seq
MIRT2072885	hsa-miR-4430	CLIP-seq
MIRT2072886	hsa-miR-4505	CLIP-seq
MIRT2072887	hsa-miR-4723-3p	CLIP-seq
MIRT1247184	hsa-miR-4731-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32353859, 32814053, 33060197, 34232536, 36217030
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005658	Component	Alpha DNA polymerase:primase complex	IBA
GO:0005658	Component	Alpha DNA polymerase:primase complex	IDA	8026492, 22465957, 26975377
GO:0005658	Component	Alpha DNA polymerase:primase complex	IEA
GO:0005658	Component	Alpha DNA polymerase:primase complex	IPI	26975377
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	NAS	8223465
GO:0006269	Process	DNA replication, synthesis of primer	IDA	8026492
GO:0006269	Process	DNA replication, synthesis of primer	IEA
GO:0006270	Process	DNA replication initiation	IBA
GO:0006270	Process	DNA replication initiation	IDA	26975377
GO:0006270	Process	DNA replication initiation	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0036064	Component	Ciliary basal body	IDA

Other IDs

• MIM: 620063
• HGNC: 30073
• e!Ensembl: ENSG00000014138

Protein

• UniProt ID: Q14181
• Protein name: DNA polymerase alpha subunit B (DNA polymerase alpha 70 kDa subunit)
• Protein function: Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis (PubMed:9705292). During the S phase of the cell cycle, the DNA polym
• PDB: 2KEB, 4E2I, 4Y97, 5EXR, 7OPL, 7U5C, 8B9D, 8D0B, 8D0K, 8D9D, 8QJ7, 8VY3, 9C8V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08418	Pol_alpha_B_N	21 → 247	DNA polymerase alpha subunit B N-terminal	Family
  PF04042	DNA_pol_E_B	342 → 549	DNA polymerase alpha/epsilon subunit B	Family

• Sequence:

  MSASAQQLAEELQIFGLDCEEALIEKLVELCVQYGQNEEGMVGELIAFCTSTHKVGLTSE
  ILNSFEHEFLSKRLSKARHSTCKDSGHAGARDIVSIQELIEVEEEEEILLNSYTTPSKGS
  QKRAISTPETPLTKRSVSTRSPHQLLSPSSFSPSATPSQKYNSRSNRGEVVTSFGLAQGV
  SWSGRGGAGNISLKVLGCPEALTGSYKSMFQKLPDIREVLTCKIEELGSELKEHYKIEAF
  TPLLAPAQEPVTLLGQIGCDSNGKLNNKSVILEGDREHSSGAQIPVDLSELKEYSLFPGQ
  VVIMEGINTTGRKLVATKLYEGVPLPFYQPTEEDADFEQSMVLVACGPYTTSDSITYDPL
  LDLIAVINHDRPDVCILFGPFLDAKHEQVENCLLTSPFEDIFKQCLRTIIEGTRSSGSHL
  VFVPSLRDVHHEPVYPQPPFSYSDLSREDKKQVQFVSEPCSLSINGVIFGLTSTDLLFHL
  GAEEISSSSGTSDRFSRILKHILTQRSYYPLYPPQEDMAIDYESFYVYAQLPVTPDVLII
  PSELRYFVKDVLGCVCVNPGRLTKGQVGGTFARLYLRRPAADGAERQSPCIAVQVVRI

• Sequence length: 598

Pathways

KEGG:

DNA replication

Reactome:

Inhibition of replication initiation of damaged DNA by RB1/E2F1
Polymerase switching on the C-strand of the telomere
Telomere C-strand synthesis initiation
DNA replication initiation
Activation of the pre-replicative complex
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand

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
Telomere Biology Disorder	Likely pathogenic	rs777941351	RCV003493282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELOMERE SYNDROME	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37051625	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28155658		★☆☆☆☆ Found in Text Mining only
Cerebroretinal Microangiopathy with Calcifications and Cysts	Cerebroretinal microangiopathy with calcifications and cysts	Pubtator	39616267	Associate	★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	34714828	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36869385	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32549188	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28155658	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28155658		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	22905093	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25521664, 28155658		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	39616267	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35685866	Associate	★☆☆☆☆ Found in Text Mining only