Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5982
Gene name	Replication factor C subunit 2
Gene symbol	RFC2
Synonyms (NCBI Gene)	RFC40
Chromosome	7
Chromosome location	7q11.23
Summary	This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor

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Show/Hide all (286)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023820	hsa-miR-1-3p	Proteomics	18668040
MIRT048154	hsa-miR-196a-5p	CLASH	23622248
MIRT045679	hsa-miR-149-5p	CLASH	23622248
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	19536157
MIRT629589	hsa-miR-183-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT681296	hsa-miR-512-5p	HITS-CLIP	23706177
MIRT681295	hsa-miR-510-5p	HITS-CLIP	23706177
MIRT681294	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT681293	hsa-miR-4779	HITS-CLIP	23706177
MIRT681292	hsa-miR-3929	HITS-CLIP	23706177
MIRT681291	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681290	hsa-miR-4478	HITS-CLIP	23706177
MIRT681289	hsa-miR-3614-5p	HITS-CLIP	23706177
MIRT681288	hsa-miR-6500-3p	HITS-CLIP	23706177
MIRT681287	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT681286	hsa-miR-4459	HITS-CLIP	23706177
MIRT681285	hsa-miR-4433a-3p	HITS-CLIP	23706177
MIRT681284	hsa-miR-3664-3p	HITS-CLIP	23706177
MIRT681283	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681282	hsa-miR-1225-3p	HITS-CLIP	23706177
MIRT681281	hsa-miR-1233-3p	HITS-CLIP	23706177
MIRT681280	hsa-miR-3975	HITS-CLIP	23706177
MIRT681279	hsa-miR-2467-5p	HITS-CLIP	23706177
MIRT681278	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681277	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681276	hsa-miR-3188	HITS-CLIP	23706177
MIRT681275	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681274	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681273	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681272	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681271	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681270	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681269	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681268	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681267	hsa-miR-4458	HITS-CLIP	23706177
MIRT681266	hsa-miR-4500	HITS-CLIP	23706177
MIRT681265	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681264	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681263	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681262	hsa-miR-6086	HITS-CLIP	23706177
MIRT681261	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681260	hsa-miR-6894-5p	HITS-CLIP	23706177
MIRT681259	hsa-miR-4266	HITS-CLIP	23706177
MIRT681258	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT681257	hsa-miR-6765-5p	HITS-CLIP	23706177
MIRT681256	hsa-miR-1304-5p	HITS-CLIP	23706177
MIRT681255	hsa-miR-1273g-5p	HITS-CLIP	23706177
MIRT681254	hsa-miR-665	HITS-CLIP	23706177
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT629596	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT629595	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT629594	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT629593	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT629592	hsa-miR-3666	HITS-CLIP	23824327
MIRT629591	hsa-miR-4295	HITS-CLIP	23824327
MIRT629590	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT629589	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT629587	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT629584	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT629583	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT629582	hsa-miR-3652	HITS-CLIP	23824327
MIRT629581	hsa-miR-4430	HITS-CLIP	23824327
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT629596	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT629595	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT629594	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT629593	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT629592	hsa-miR-3666	HITS-CLIP	23824327
MIRT629591	hsa-miR-4295	HITS-CLIP	23824327
MIRT629590	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT629589	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT629587	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT629586	hsa-miR-3135b	HITS-CLIP	23824327
MIRT629585	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT629584	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT629583	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT629582	hsa-miR-3652	HITS-CLIP	23824327
MIRT629581	hsa-miR-4430	HITS-CLIP	23824327
MIRT629580	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	19536157
MIRT629589	hsa-miR-183-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT629587	hsa-miR-767-5p	HITS-CLIP	19536157
MIRT629583	hsa-miR-593-5p	HITS-CLIP	19536157
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT681296	hsa-miR-512-5p	HITS-CLIP	23706177
MIRT681295	hsa-miR-510-5p	HITS-CLIP	23706177
MIRT681294	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT681293	hsa-miR-4779	HITS-CLIP	23706177
MIRT681292	hsa-miR-3929	HITS-CLIP	23706177
MIRT681291	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681290	hsa-miR-4478	HITS-CLIP	23706177
MIRT681289	hsa-miR-3614-5p	HITS-CLIP	23706177
MIRT681288	hsa-miR-6500-3p	HITS-CLIP	23706177
MIRT681287	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT681286	hsa-miR-4459	HITS-CLIP	23706177
MIRT681285	hsa-miR-4433a-3p	HITS-CLIP	23706177
MIRT681284	hsa-miR-3664-3p	HITS-CLIP	23706177
MIRT681283	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681282	hsa-miR-1225-3p	HITS-CLIP	23706177
MIRT681281	hsa-miR-1233-3p	HITS-CLIP	23706177
MIRT681280	hsa-miR-3975	HITS-CLIP	23706177
MIRT681279	hsa-miR-2467-5p	HITS-CLIP	23706177
MIRT681278	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681277	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681276	hsa-miR-3188	HITS-CLIP	23706177
MIRT681275	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681274	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681273	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681272	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681271	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681270	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681269	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681268	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681267	hsa-miR-4458	HITS-CLIP	23706177
MIRT681266	hsa-miR-4500	HITS-CLIP	23706177
MIRT681265	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681264	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681263	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681262	hsa-miR-6086	HITS-CLIP	23706177
MIRT681261	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681260	hsa-miR-6894-5p	HITS-CLIP	23706177
MIRT681259	hsa-miR-4266	HITS-CLIP	23706177
MIRT681258	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT681257	hsa-miR-6765-5p	HITS-CLIP	23706177
MIRT681256	hsa-miR-1304-5p	HITS-CLIP	23706177
MIRT681255	hsa-miR-1273g-5p	HITS-CLIP	23706177
MIRT681254	hsa-miR-665	HITS-CLIP	23706177
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT629596	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT629595	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT629594	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT629593	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT629592	hsa-miR-3666	HITS-CLIP	23824327
MIRT629591	hsa-miR-4295	HITS-CLIP	23824327
MIRT629590	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT629589	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT629587	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT629584	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT629583	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT629582	hsa-miR-3652	HITS-CLIP	23824327
MIRT629581	hsa-miR-4430	HITS-CLIP	23824327
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT629597	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT629596	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT629595	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT629594	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT629593	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT629592	hsa-miR-3666	HITS-CLIP	23824327
MIRT629591	hsa-miR-4295	HITS-CLIP	23824327
MIRT629590	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT629589	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT629588	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT629587	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT629586	hsa-miR-3135b	HITS-CLIP	23824327
MIRT629585	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT629584	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT629583	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT629582	hsa-miR-3652	HITS-CLIP	23824327
MIRT629581	hsa-miR-4430	HITS-CLIP	23824327
MIRT629580	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT629579	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT629578	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT1301523	hsa-miR-224	CLIP-seq
MIRT1301524	hsa-miR-4775	CLIP-seq
MIRT1301525	hsa-miR-590-3p	CLIP-seq
MIRT1301526	hsa-miR-1254	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT1301528	hsa-miR-141	CLIP-seq
MIRT1301529	hsa-miR-200a	CLIP-seq
MIRT1301530	hsa-miR-2276	CLIP-seq
MIRT1301531	hsa-miR-2355-5p	CLIP-seq
MIRT1301532	hsa-miR-24	CLIP-seq
MIRT1301533	hsa-miR-3065-5p	CLIP-seq
MIRT1301534	hsa-miR-3116	CLIP-seq
MIRT1301535	hsa-miR-3194-5p	CLIP-seq
MIRT1301536	hsa-miR-3662	CLIP-seq
MIRT1301537	hsa-miR-3679-3p	CLIP-seq
MIRT1301538	hsa-miR-4252	CLIP-seq
MIRT1301539	hsa-miR-4284	CLIP-seq
MIRT1301540	hsa-miR-4435	CLIP-seq
MIRT1301541	hsa-miR-4691-3p	CLIP-seq
MIRT1301542	hsa-miR-4708-3p	CLIP-seq
MIRT1301543	hsa-miR-4772-3p	CLIP-seq
MIRT1301544	hsa-miR-495	CLIP-seq
MIRT1301545	hsa-miR-548u	CLIP-seq
MIRT1301546	hsa-miR-550a	CLIP-seq
MIRT1301547	hsa-miR-661	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT1301523	hsa-miR-224	CLIP-seq
MIRT1301531	hsa-miR-2355-5p	CLIP-seq
MIRT1301537	hsa-miR-3679-3p	CLIP-seq
MIRT1301539	hsa-miR-4284	CLIP-seq
MIRT2089520	hsa-miR-764	CLIP-seq
MIRT2314443	hsa-miR-1234	CLIP-seq
MIRT2314444	hsa-miR-125a-3p	CLIP-seq
MIRT2314445	hsa-miR-150	CLIP-seq
MIRT2314446	hsa-miR-342-5p	CLIP-seq
MIRT2314447	hsa-miR-3934	CLIP-seq
MIRT2314448	hsa-miR-4651	CLIP-seq
MIRT2314449	hsa-miR-4664-5p	CLIP-seq
MIRT2314450	hsa-miR-520g	CLIP-seq
MIRT2314451	hsa-miR-520h	CLIP-seq
MIRT2314452	hsa-miR-608	CLIP-seq
MIRT2314453	hsa-miR-640	CLIP-seq
MIRT2089520	hsa-miR-764	CLIP-seq
MIRT2393633	hsa-miR-122	CLIP-seq
MIRT2393634	hsa-miR-130a	CLIP-seq
MIRT2393635	hsa-miR-130b	CLIP-seq
MIRT2393636	hsa-miR-301a	CLIP-seq
MIRT2393637	hsa-miR-301b	CLIP-seq
MIRT2393638	hsa-miR-3650	CLIP-seq
MIRT2393639	hsa-miR-454	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT2458060	hsa-miR-3064-3p	CLIP-seq
MIRT2393633	hsa-miR-122	CLIP-seq
MIRT2393634	hsa-miR-130a	CLIP-seq
MIRT2393635	hsa-miR-130b	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT1301532	hsa-miR-24	CLIP-seq
MIRT2393636	hsa-miR-301a	CLIP-seq
MIRT2393637	hsa-miR-301b	CLIP-seq
MIRT2458060	hsa-miR-3064-3p	CLIP-seq
MIRT2393638	hsa-miR-3650	CLIP-seq
MIRT1301539	hsa-miR-4284	CLIP-seq
MIRT2393639	hsa-miR-454	CLIP-seq
MIRT2610856	hsa-miR-4735-5p	CLIP-seq
MIRT1301524	hsa-miR-4775	CLIP-seq
MIRT1301525	hsa-miR-590-3p	CLIP-seq
MIRT2393633	hsa-miR-122	CLIP-seq
MIRT2393634	hsa-miR-130a	CLIP-seq
MIRT2393635	hsa-miR-130b	CLIP-seq
MIRT1301527	hsa-miR-1343	CLIP-seq
MIRT1301532	hsa-miR-24	CLIP-seq
MIRT2393636	hsa-miR-301a	CLIP-seq
MIRT2393637	hsa-miR-301b	CLIP-seq
MIRT2458060	hsa-miR-3064-3p	CLIP-seq
MIRT2393638	hsa-miR-3650	CLIP-seq
MIRT1301539	hsa-miR-4284	CLIP-seq
MIRT2393639	hsa-miR-454	CLIP-seq
MIRT2610856	hsa-miR-4735-5p	CLIP-seq
MIRT1301543	hsa-miR-4772-3p	CLIP-seq
MIRT1301524	hsa-miR-4775	CLIP-seq
MIRT1301525	hsa-miR-590-3p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003689	Function	DNA clamp loader activity	IBA
GO:0003689	Function	DNA clamp loader activity	IDA	12930902
GO:0005515	Function	Protein binding	IPI	9488738, 15655353, 18499658, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	1313560
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005663	Component	DNA replication factor C complex	IBA
GO:0005663	Component	DNA replication factor C complex	IDA	9488738
GO:0005663	Component	DNA replication factor C complex	IPI	9488738
GO:0005694	Component	Chromosome	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	IBA
GO:0006261	Process	DNA-templated DNA replication	IDA	9488738
GO:0006281	Process	DNA repair	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017116	Function	Single-stranded DNA helicase activity	IDA	12930902
GO:0019899	Function	Enzyme binding	IEA
GO:0031390	Component	Ctf18 RFC-like complex	IDA	12930902
GO:1900264	Process	Positive regulation of DNA-directed DNA polymerase activity	IDA	12930902

MIM	HGNC	e!Ensembl
600404	9970	ENSG00000049541

P35250

Protein name

Replication factor C subunit 2 (Activator 1 40 kDa subunit) (A1 40 kDa subunit) (Activator 1 subunit 2) (Replication factor C 40 kDa subunit) (RF-C 40 kDa subunit) (RFC40)

Protein function

Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA

PDB

6VVO , 7Z6H , 8UI7 , 8UI8 , 8UI9 , 8UII , 8UMT , 8UMU , 8UMV , 8UMW , 8UMY , 8UN0 , 8UNJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00004	AAA	72 → 193	ATPase family associated with various cellular activities (AAA)	Domain
PF08542	Rep_fac_C	258 → 343	Replication factor C C-terminal domain	Domain

Sequence

MEVEAVCGGAGEVEAQDSDPAPAFSKAPGSAGHYELPWVEKYRPVKLNEIVGNEDTVSRL
EVFAREGNVPNIIIAGPPGTGKTTSILCLARALLGPALKDAMLELNASNDRGIDVVRNKI
KMFAQQKVTLPKGRHKIIILDEADSMTDGAQQALRRTMEIYSKTTRFALACNASDKIIEP
IQSRCAVLRYTKLTDAQILTRLMNVIEKERVPYTDDGLEAIIFTAQGDMRQALNNLQSTF
SGFGFINSENVFKVCDEPHPLLVKEMIQHCVNANIDEAYKILAHLWHLGYSPEDIIGNIF
RVCKTFQMAEYLKLEFIKEIGYTHMKIAEGVNSLLQMAGLLARLCQKTMAPVAS

Sequence length

354

Interactions

View interactions

	KEGG		Reactome
	DNA replication Base excision repair Nucleotide excision repair Mismatch repair		Translesion synthesis by REV1 Recognition of DNA damage by PCNA-containing replication complex Translesion Synthesis by POLH Polymerase switching on the C-strand of the telomere Activation of ATR in response to replication stress PCNA-Dependent Long Patch Base Excision Repair Translesion synthesis by POLK Translesion synthesis by POLI Termination of translesion DNA synthesis HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Gap-filling DNA repair synthesis and ligation in GG-NER Dual Incision in GG-NER Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER Regulation of TP53 Activity through Phosphorylation Polymerase switching G2/M DNA damage checkpoint

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)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (128)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Accessory kidney	Accessory Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	23335958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28408707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	23116200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23492185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28408707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10642432, 27916422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34022962	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15846072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30013563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30658502, 37821801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30191781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15192439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15192439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31797865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	14650106, 15192439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31845510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	15846072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	15846072	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15494095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35210438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31182654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29268263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36189312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10642432, 10861496, 27916422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30013563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30191781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16122961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	40587682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21057896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20149058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23178651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus-induced head nodding	Nystagmus-induced head nodding	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28262235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10773107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37950047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35483337	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20149058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31845510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35791074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	11003705, 17564965, 22608712, 28098859		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	17564965, 22608712, 25105779, 28098859	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams syndrome	Williams Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RFC2 (replication factor C subunit 2)