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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5591
Gene name	Protein kinase, DNA-activated, catalytic subunit
Gene symbol	PRKDC
Synonyms (NCBI Gene)	DNA-PKCDNA-PKcsDNAPKDNAPKcDNPK1HYRCHYRC1IMD26S473KXRCC7p350
Chromosome	8
Chromosome location	8q11.21
Summary	This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[pr

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SNP ID	Visualize variation	Clinical significance	Consequence
rs191531119	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200729621	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202110076	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs372587440	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs375277772	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs546905091	TT>-,T,TTT,TTTT	Pathogenic	Intron variant
rs587777685	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs587777686	G>A	Pathogenic	Missense variant, coding sequence variant

169

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005558	hsa-miR-101-5p	Luciferase reporter assayqRT-PCR	20617180
MIRT005558	hsa-miR-101-5p	Luciferase reporter assayqRT-PCR	20617180
MIRT439897	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439897	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT736402	hsa-miR-101-3p	Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry	33226571
MIRT439897	hsa-miR-218-5p	Luciferase reporter assayWestern blottingqRT-PCR	33759399
MIRT1263582	hsa-miR-103a	CLIP-seq
MIRT1263583	hsa-miR-107	CLIP-seq
MIRT1263584	hsa-miR-1237	CLIP-seq
MIRT1263585	hsa-miR-1248	CLIP-seq
MIRT1263586	hsa-miR-1262	CLIP-seq
MIRT1263587	hsa-miR-1283	CLIP-seq
MIRT1263588	hsa-miR-1288	CLIP-seq
MIRT1263589	hsa-miR-1301	CLIP-seq
MIRT1263590	hsa-miR-1323	CLIP-seq
MIRT1263591	hsa-miR-136	CLIP-seq
MIRT1263592	hsa-miR-1908	CLIP-seq
MIRT1263593	hsa-miR-2116	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263595	hsa-miR-3065-5p	CLIP-seq
MIRT1263596	hsa-miR-3123	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263599	hsa-miR-3163	CLIP-seq
MIRT1263600	hsa-miR-3169	CLIP-seq
MIRT1263601	hsa-miR-3199	CLIP-seq
MIRT1263602	hsa-miR-320a	CLIP-seq
MIRT1263603	hsa-miR-320b	CLIP-seq
MIRT1263604	hsa-miR-320c	CLIP-seq
MIRT1263605	hsa-miR-320d	CLIP-seq
MIRT1263606	hsa-miR-337-3p	CLIP-seq
MIRT1263607	hsa-miR-3662	CLIP-seq
MIRT1263608	hsa-miR-3911	CLIP-seq
MIRT1263609	hsa-miR-4273	CLIP-seq
MIRT1263610	hsa-miR-4326	CLIP-seq
MIRT1263611	hsa-miR-4429	CLIP-seq
MIRT1263612	hsa-miR-4455	CLIP-seq
MIRT1263613	hsa-miR-4515	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT1263615	hsa-miR-4637	CLIP-seq
MIRT1263616	hsa-miR-4677-5p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT1263618	hsa-miR-4701-3p	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT1263620	hsa-miR-4728-3p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT1263622	hsa-miR-4777-5p	CLIP-seq
MIRT1263623	hsa-miR-4788	CLIP-seq
MIRT1263624	hsa-miR-488	CLIP-seq
MIRT1263625	hsa-miR-499-3p	CLIP-seq
MIRT1263626	hsa-miR-499a-3p	CLIP-seq
MIRT1263627	hsa-miR-5047	CLIP-seq
MIRT1263628	hsa-miR-518d-5p	CLIP-seq
MIRT1263629	hsa-miR-519b-5p	CLIP-seq
MIRT1263630	hsa-miR-519c-5p	CLIP-seq
MIRT1263631	hsa-miR-520c-5p	CLIP-seq
MIRT1263632	hsa-miR-526a	CLIP-seq
MIRT1263633	hsa-miR-548o	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT1263635	hsa-miR-609	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT1263637	hsa-miR-663	CLIP-seq
MIRT1263638	hsa-miR-765	CLIP-seq
MIRT1263639	hsa-miR-300	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT1263641	hsa-miR-381	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2077586	hsa-miR-1	CLIP-seq
MIRT1263587	hsa-miR-1283	CLIP-seq
MIRT1263588	hsa-miR-1288	CLIP-seq
MIRT1263592	hsa-miR-1908	CLIP-seq
MIRT2077587	hsa-miR-206	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263600	hsa-miR-3169	CLIP-seq
MIRT1263601	hsa-miR-3199	CLIP-seq
MIRT1263606	hsa-miR-337-3p	CLIP-seq
MIRT2077588	hsa-miR-3673	CLIP-seq
MIRT1263608	hsa-miR-3911	CLIP-seq
MIRT1263610	hsa-miR-4326	CLIP-seq
MIRT1263612	hsa-miR-4455	CLIP-seq
MIRT1263613	hsa-miR-4515	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT1263620	hsa-miR-4728-3p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2077589	hsa-miR-490-5p	CLIP-seq
MIRT1263625	hsa-miR-499-3p	CLIP-seq
MIRT1263626	hsa-miR-499a-3p	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT1263635	hsa-miR-609	CLIP-seq
MIRT2077590	hsa-miR-613	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT1263637	hsa-miR-663	CLIP-seq
MIRT1263638	hsa-miR-765	CLIP-seq
MIRT2304120	hsa-miR-455-5p	CLIP-seq
MIRT2304121	hsa-miR-944	CLIP-seq
MIRT2601080	hsa-miR-1238	CLIP-seq
MIRT2601081	hsa-miR-1278	CLIP-seq
MIRT2601082	hsa-miR-1290	CLIP-seq
MIRT2601083	hsa-miR-145	CLIP-seq
MIRT2601084	hsa-miR-188-5p	CLIP-seq
MIRT2601085	hsa-miR-203	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT2601086	hsa-miR-3616-5p	CLIP-seq
MIRT2601087	hsa-miR-3647-5p	CLIP-seq
MIRT2601088	hsa-miR-3671	CLIP-seq
MIRT2077588	hsa-miR-3673	CLIP-seq
MIRT2601089	hsa-miR-3674	CLIP-seq
MIRT2601090	hsa-miR-3682-5p	CLIP-seq
MIRT2601091	hsa-miR-371-5p	CLIP-seq
MIRT2601092	hsa-miR-371b-5p	CLIP-seq
MIRT2601093	hsa-miR-3915	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT2601094	hsa-miR-3928	CLIP-seq
MIRT2601095	hsa-miR-3935	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT2601096	hsa-miR-4670-3p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT2601097	hsa-miR-4698	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT2601098	hsa-miR-4733-5p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2601099	hsa-miR-4760-3p	CLIP-seq
MIRT2601100	hsa-miR-513c	CLIP-seq
MIRT2601101	hsa-miR-514b-5p	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2601102	hsa-miR-573	CLIP-seq
MIRT2601103	hsa-miR-579	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT2601104	hsa-miR-607	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT2601105	hsa-miR-664	CLIP-seq
MIRT2601080	hsa-miR-1238	CLIP-seq
MIRT2601081	hsa-miR-1278	CLIP-seq
MIRT2601082	hsa-miR-1290	CLIP-seq
MIRT2601084	hsa-miR-188-5p	CLIP-seq
MIRT2601085	hsa-miR-203	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT2601086	hsa-miR-3616-5p	CLIP-seq
MIRT2601087	hsa-miR-3647-5p	CLIP-seq
MIRT2601088	hsa-miR-3671	CLIP-seq
MIRT2601093	hsa-miR-3915	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT2601094	hsa-miR-3928	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT2601096	hsa-miR-4670-3p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT2601098	hsa-miR-4733-5p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2601099	hsa-miR-4760-3p	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2601102	hsa-miR-573	CLIP-seq
MIRT2601103	hsa-miR-579	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT2601104	hsa-miR-607	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT2601105	hsa-miR-664	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000460	Process	Maturation of 5.8S rRNA	IDA	32103174
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27338793, 27797818
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000785	Component	Chromatin	IDA	29478807
GO:0001756	Process	Somitogenesis	IEA
GO:0001933	Process	Negative regulation of protein phosphorylation	ISS
GO:0002218	Process	Activation of innate immune response	IDA	28712728
GO:0002326	Process	B cell lineage commitment	IEA
GO:0002327	Process	Immature B cell differentiation	IEA
GO:0002328	Process	Pro-B cell differentiation	IEA
GO:0002360	Process	T cell lineage commitment	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	22504299
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004672	Function	Protein kinase activity	IDA	7671312
GO:0004672	Function	Protein kinase activity	IMP	22504299
GO:0004672	Function	Protein kinase activity	TAS	7671312
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	15262962, 19303849, 24485452, 26237645, 29478807, 32103174, 33273464, 35460603
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004677	Function	DNA-dependent protein kinase activity	IDA	15194694
GO:0004677	Function	DNA-dependent protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	9442054, 17308091, 18026119, 19303849, 19833092, 20023628, 20085707, 20711232, 21575865, 22504299, 22529269, 22977523, 24365180, 25303530, 25749521, 25852083, 25941166, 26175416, 26237645, 26496610, 32832608, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22504299, 32103174
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	19303849
GO:0005730	Component	Nucleolus	IDA	27829214, 32103174
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005958	Component	DNA-dependent protein kinase-DNA ligase 4 complex	IDA	15194694, 34352203
GO:0006281	Process	DNA repair	IDA	20545304
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	18710952
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	NAS	10207111
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006468	Process	Protein phosphorylation	IDA	26237645
GO:0006468	Process	Protein phosphorylation	IMP	22504299
GO:0006974	Process	DNA damage response	IDA	26237645, 29478807, 35460603
GO:0006974	Process	DNA damage response	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010332	Process	Response to gamma radiation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016233	Process	Telomere capping	IMP	18710952
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	15194694
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	32103174
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	32103174
GO:0019899	Function	Enzyme binding	IEA
GO:0019904	Function	Protein domain specific binding	IPI	22504299
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0031297	Process	Replication fork processing	IDA	27338793, 27797818, 29478807
GO:0031571	Process	Mitotic G1 DNA damage checkpoint signaling	IMP	21731742
GO:0031648	Process	Protein destabilization	IEA
GO:0032040	Component	Small-subunit processome	IDA	32103174
GO:0032869	Process	Cellular response to insulin stimulus	IMP	19303849
GO:0032991	Component	Protein-containing complex	IMP	22504299
GO:0032993	Component	Protein-DNA complex	IDA	22504299
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033151	Process	V(D)J recombination	IEA
GO:0033152	Process	Immunoglobulin V(D)J recombination	IBA
GO:0033152	Process	Immunoglobulin V(D)J recombination	IEA
GO:0033153	Process	T cell receptor V(D)J recombination	IEA
GO:0034462	Process	Small-subunit processome assembly	IDA	32103174
GO:0034511	Function	U3 snoRNA binding	IDA	32103174
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0035979	Function	Histone H2AXS139 kinase activity	IDA	14627815, 16046194
GO:0036211	Process	Protein modification process	TAS	7671312
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	24485452
GO:0045087	Process	Innate immune response	IEA
GO:0045621	Process	Positive regulation of lymphocyte differentiation	IEA
GO:0045621	Process	Positive regulation of lymphocyte differentiation	ISS
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	ISS
GO:0045727	Process	Positive regulation of translation	IEA
GO:0045727	Process	Positive regulation of translation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19303849
GO:0048511	Process	Rhythmic process	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IMP	25852083
GO:0050678	Process	Regulation of epithelial cell proliferation	IMP	18710952
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19303849
GO:0070418	Component	DNA-dependent protein kinase complex	IPI	28840859
GO:0070419	Component	Nonhomologous end joining complex	IDA	20383123, 25941166
GO:0071168	Process	Protein localization to chromatin	IDA	27338793, 27797818
GO:0080135	Process	Regulation of cellular response to stress	IEA
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	TAS	18710952
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IDA	29478807
GO:0140896	Process	CGAS/STING signaling pathway	IDA	32911482, 32912999
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IDA	35460603
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IDA	33273464
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	IEA
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	ISS
GO:1905221	Process	Positive regulation of platelet formation	IEA
GO:1905221	Process	Positive regulation of platelet formation	ISS
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	26237645

MIM	HGNC	e!Ensembl
600899	9413	ENSG00000253729

P78527

Protein name

DNA-dependent protein kinase catalytic subunit (DNA-PK catalytic subunit) (DNA-PKcs) (EC 2.7.11.1) (DNPK1) (Ser-473 kinase) (S473K) (p460)

Protein function

Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:33854234). Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair

PDB

5LUQ , 5W1R , 5Y3R , 6ZFP , 6ZH2 , 6ZH4 , 6ZH6 , 6ZH8 , 6ZHA , 6ZHE , 7K0Y , 7K10 , 7K11 , 7K19 , 7K1B , 7K1J , 7K1K , 7K1N , 7LT3 , 7NFC , 7NFE , 7OTM , 7OTP , 7OTV , 7OTW , 7OTY , 7SGL , 7SU3 , 7SUD , 7TYR , 7Z87 , 7Z88 , 8BH3 , 8BHV , 8BHY , 8BOT , 8EZ9 , 8EZA , 8EZB , 8RD4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08163	NUC194	1816 → 2202	NUC194 domain	Domain
PF02259	FAT	3023 → 3470	FAT domain	Family
PF00454	PI3_PI4_kinase	3747 → 4015	Phosphatidylinositol 3- and 4-kinase	Family
PF02260	FATC	4097 → 4128	FATC domain	Family

Sequence

MAGSGAGVRCSLLRLQETLSAADRCGAALAGHQLIRGLGQECVLSSSPAVLALQTSLVFS
RDFGLLVFVRKSLNSIEFRECREEILKFLCIFLEKMGQKIAPYSVEIKNTCTSVYTKDRA
AKCKIPALDLLIKLLQTFRSSRLMDEFKIGELFSKFYGELALKKKIPDTVLEKVYELLGL
LGEVHPSEMINNAENLFRAFLGELKTQMTSAVREPKLPVLAGCLKGLSSLLCNFTKSMEE
DPQTSREIFNFVLKAIRPQIDLKRYAVPSAGLRLFALHASQFSTCLLDNYVSLFEVLLKW
CAHTNVELKKAALSALESFLKQVSNMVAKNAEMHKNKLQYFMEQFYGIIRNVDSNNKELS
IAIRGYGLFAGPCKVINAKDVDFMYVELIQRCKQMFLTQTDTGDDRVYQMPSFLQSVASV
LLYLDTVPEVYTPVLEHLVVMQIDSFPQYSPKMQLVCCRAIVKVFLALAAKGPVLRNCIS
TVVHQGLIRICSKPVVLPKGPESESEDHRASGEVRTGKWKVPTYKDYVDLFRHLLSSDQM
MDSILADEAFFSVNSSSESLNHLLYDEFVKSVLKIVEKLDLTLEIQTVGEQENGDEAPGV
WMIPTSDPAANLHPAKPKDFSAFINLVEFCREILPEKQAEFFEPWVYSFSYELILQSTRL
PLISGFYKLLSITVRNAKKIKYFEGVSPKSLKHSPEDPEKYSCFALFVKFGKEVAVKMKQ
YKDELLASCLTFLLSLPHNIIELDVRAYVPALQMAFKLGLSYTPLAEVGLNALEEWSIYI
DRHVMQPYYKDILPCLDGYLKTSALSDETKNNWEVSALSRAAQKGFNKVVLKHLKKTKNL
SSNEAISLEEIRIRVVQMLGSLGGQINKNLLTVTSSDEMMKSYVAWDREKRLSFAVPFRE
MKPVIFLDVFLPRVTELALTASDRQTKVAACELLHSMVMFMLGKATQMPEGGQGAPPMYQ
LYKRTFPVLLRLACDVDQVTRQLYEPLVMQLIHWFTNNKKFESQDTVALLEAILDGIVDP
VDSTLRDFCGRCIREFLKWSIKQITPQQQEKSPVNTKSLFKRLYSLALHPNAFKRLGASL
AFNNIYREFREEESLVEQFVFEALVIYMESLALAHADEKSLGTIQQCCDAIDHLCRIIEK
KHVSLNKAKKRRLPRGFPPSASLCLLDLVKWLLAHCGRPQTECRHKSIELFYKFVPLLPG
NRSPNLWLKDVLKEEGVSFLINTFEGGGCGQPSGILAQPTLLYLRGPFSLQATLCWLDLL
LAALECYNTFIGERTVGALQVLGTEAQSSLLKAVAFFLESIAMHDIIAAEKCFGTGAAGN
RTSPQEGERYNYSKCTVVVRIMEFTTTLLNTSPEGWKLLKKDLCNTHLMRVLVQTLCEPA
SIGFNIGDVQVMAHLPDVCVNLMKALKMSPYKDILETHLREKITAQSIEELCAVNLYGPD
AQVDRSRLAAVVSACKQLHRAGLLHNILPSQSTDLHHSVGTELLSLVYKGIAPGDERQCL
PSLDLSCKQLASGLLELAFAFGGLCERLVSLLLNPAVLSTASLGSSQGSVIHFSHGEYFY
SLFSETINTELLKNLDLAVLELMQSSVDNTKMVSAVLNGMLDQSFRERANQKHQGLKLAT
TILQHWKKCDSWWAKDSPLETKMAVLALLAKILQIDSSVSFNTSHGSFPEVFTTYISLLA
DTKLDLHLKGQAVTLLPFFTSLTGGSLEELRRVLEQLIVAHFPMQSREFPPGTPRFNNYV
DCMKKFLDALELSQSPMLLELMTEVLCREQQHVMEELFQSSFRRIARRGSCVTQVGLLES
VYEMFRKDDPRLSFTRQSFVDRSLLTLLWHCSLDALREFFSTIVVDAIDVLKSRFTKLNE
STFDTQITKKMGYYKILDVMYSRLPKDDVHAKESKINQVFHGSCITEGNELTKTLIKLCY
DAFTENMAGENQLLERRRLYHCAAYNCAISVICCVFNELKFYQGFLFSEKPEKNLLIFEN
LIDLKRRYNFPVEVEVPMERKKKYIEIRKEAREAANGDSDGPSYMSSLSYLADSTLSEEM
SQFDFSTGVQSYSYSSQDPRPATGRFRRREQRDPTVHDDVLELEMDELNRHECMAPLTAL
VKHMHRSLGPPQGEEDSVPRDLPSWMKFLHGKLGNPIVPLNIRLFLAKLVINTEEVFRPY
AKHWLSPLLQLAASENNGGEGIHYMVVEIVATILSWTGLATPTGVPKDEVLANRLLNFLM
KHVFHPKRAVFRHNLEIIKTLVECWKDCLSIPYRLIFEKFSGKDPNSKDNSVGIQLLGIV
MANDLPPYDPQCGIQSSEYFQALVNNMSFVRYKEVYAAAAEVLGLILRYVMERKNILEES
LCELVAKQLKQHQNTMEDKFIVCLNKVTKSFPPLADRFMNAVFFLLPKFHGVLKTLCLEV
VLCRVEGMTELYFQLKSKDFVQVMRHRDDERQKVCLDIIYKMMPKLKPVELRELLNPVVE
FVSHPSTTCREQMYNILMWIHDNYRDPESETDNDSQEIFKLAKDVLIQGLIDENPGLQLI
IRNFWSHETRLPSNTLDRLLALNSLYSPKIEVHFLSLATNFLLEMTSMSPDYPNPMFEHP
LSECEFQEYTIDSDWRFRSTVLTPMFVETQASQGTLQTRTQEGSLSARWPVAGQIRATQQ
QHDFTLTQTADGRSSFDWLTGSSTDPLVDHTSPSSDSLLFAHKRSERLQRAPLKSVGPDF
GKKRLGLPGDEVDNKVKGAAGRTDLLRLRRRFMRDQEKLSLMYARKGVAEQKREKEIKSE
LKMKQDAQVVLYRSYRHGDLPDIQIKHSSLITPLQAVAQRDPIIAKQLFSSLFSGILKEM
DKFKTLSEKNNITQKLLQDFNRFLNTTFSFFPPFVSCIQDISCQHAALLSLDPAAVSAGC
LASLQQPVGIRLLEEALLRLLPAELPAKRVRGKARLPPDVLRWVELAKLYRSIGEYDVLR
GIFTSEIGTKQITQSALLAEARSDYSEAAKQYDEALNKQDWVDGEPTEAEKDFWELASLD
CYNHLAEWKSLEYCSTASIDSENPPDLNKIWSEPFYQETYLPYMIRSKLKLLLQGEADQS
LLTFIDKAMHGELQKAILELHYSQELSLLYLLQDDVDRAKYYIQNGIQSFMQNYSSIDVL
LHQSRLTKLQSVQALTEIQEFISFISKQGNLSSQVPLKRLLNTWTNRYPDAKMDPMNIWD
DIITNRCFFLSKIEEKLTPLPEDNSMNVDQDGDPSDRMEVQEQEEDISSLIRSCKFSMKM
KMIDSARKQNNFSLAMKLLKELHKESKTRDDWLVSWVQSYCRLSHCRSRSQGCSEQVLTV
LKTVSLLDENNVSSYLSKNILAFRDQNILLGTTYRIIANALSSEPACLAEIEEDKARRIL
ELSGSSSEDSEKVIAGLYQRAFQHLSEAVQAAEEEAQPPSWSCGPAAGVIDAYMTLADFC
DQQLRKEEENASVIDSAELQAYPALVVEKMLKALKLNSNEARLKFPRLLQIIERYPEETL
SLMTKEISSVPCWQFISWISHMVALLDKDQAVAVQHSVEEITDNYPQAIVYPFIISSESY
SFKDTSTGHKNKEFVARIKSKLDQGGVIQDFINALDQLSNPELLFKDWSNDVRAELAKTP
VNKKNIEKMYERMYAALGDPKAPGLGAFRRKFIQTFGKEFDKHFGKGGSKLLRMKLSDFN
DITNMLLLKMNKDSKPPGNLKECSPWMSDFKVEFLRNELEIPGQYDGRGKPLPEYHVRIA
GFDERVTVMASLRRPKRIIIRGHDEREHPFLVKGGEDLRQDQRVEQLFQVMNGILAQDSA
CSQRALQLRTYSVVPMTSRLGLIEWLENTVTLKDLLLNTMSQEEKAAYLSDPRAPPCEYK
DWLTKMSGKHDVGAYMLMYKGANRTETVTSFRKRESKVPADLLKRAFVRMSTSPEAFLAL
RSHFASSHALICISHWILGIGDRHLNNFMVAMETGGVIGIDFGHAFGSATQFLPVPELMP
FRLTRQFINLMLPMKETGLMYSIMVHALRAFRSDPGLLTNTMDVFVKEPSFDWKNFEQKM
LKKGGSWIQEINVAEKNWYPRQKICYAKRKLAGANPAVITCDELLLGHEKAPAFRDYVAV
ARGSKDHNIRAQEPESGLSEETQVKCLMDQATDPNILGRTWEGWEPWM

Sequence length

4128

Interactions

View interactions

	KEGG		Reactome
	Non-homologous end-joining Cell cycle		Cytosolic sensors of pathogen-associated DNA IRF3-mediated induction of type I IFN Nonhomologous End-Joining (NHEJ) E3 ubiquitin ligases ubiquitinate target proteins

2425

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 26 without neurologic abnormalities	Pathogenic	rs587777685	RCV000142389
Severe combined immunodeficiency due to DNA-PKcs deficiency	Pathogenic	rs587777685, rs587777686	RCV002514770 RCV000142390

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs8178060, rs8178070	RCV005896249 RCV005897995
Cervical cancer	Benign; Uncertain significance	rs8178060, rs772348033	RCV005896251 RCV005902049
Cholangiocarcinoma	-	rs2551862515	RCV005930254
Clear cell carcinoma of kidney	Uncertain significance	rs768046320	RCV005931942
Gastric cancer	Likely benign; Benign	rs750298710, rs8178060	RCV005926814 RCV005896252
Hepatocellular carcinoma	Benign; Likely benign	rs11311765	RCV005868214
Lung cancer	Benign	rs8178060	RCV005896254
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs11311765	RCV005868216
Malignant tumor of breast	Benign; Likely benign	rs8178208	RCV001269484
Malignant tumor of esophagus	Benign	rs8178060	RCV005896250
Malignant tumor of urinary bladder	-	rs2551859860, rs2551866327	RCV005931105 RCV005931106
Melanoma	Uncertain significance; Likely benign	rs553133153, rs747457491, rs148855050	RCV005928652 RCV005927127 RCV005910252
Microcephaly	Uncertain significance	rs766308824, rs2088346343, rs749940416, rs2090171039	RCV001252936 RCV001252900 RCV001252836 RCV001252846
Nonpapillary renal cell carcinoma	Likely benign; Benign	rs200659591, rs11311765	RCV005912730 RCV005868215
Ovarian serous cystadenocarcinoma	Benign	rs8178060, rs8178070	RCV005896253 RCV005897996
PRKDC-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs377205091, rs2089318466, rs2154499402, rs8178088, rs866967844, rs768299434, rs372912665, rs546905091, rs2551860399, rs2551860388, rs775364456, rs2551872738, rs2551869054, rs2551865357, rs2551866144 View all (29 more)	RCV003399090 RCV003946000 RCV003908588 RCV003983917 RCV003980460 RCV004753521 RCV003950884 RCV003917434 RCV003943356 RCV003926369 RCV003933751 RCV003926374 RCV003926381 RCV003971273 RCV003933771 RCV004753656 RCV003412386 RCV003904432 RCV003974140 RCV003912119 RCV003964388 RCV003972586 RCV003902496 RCV003922727 RCV003915347 RCV004752947 RCV003962597 RCV003952867 RCV003935532 RCV003980168 RCV003945670 RCV004752982 RCV003937983 RCV004752981 RCV003975331 RCV003918274 RCV003915833 RCV003948308 RCV003977937 RCV003970432 RCV003972980 RCV003908464 RCV003898238 RCV003898218
Sarcoma	Uncertain significance	rs1192522380	RCV005924165
See cases	Uncertain significance	rs758498140	RCV002252393
Thymoma	Benign; Likely benign	rs373043773	RCV005897953
Thyroid cancer, nonmedullary, 1	Benign	rs8178070	RCV005897997
Uterine carcinosarcoma	Likely benign	rs2551879395	RCV005927128

Show/Hide Text Mining Associations (135)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Inhibit	28750002
Adenocarcinoma	Associate	27246533, 28751461, 30626422, 36862864
Adenoma	Associate	25092825
Alzheimer Disease	Associate	29186589
Amyotrophic Lateral Sclerosis	Associate	33857636
Aneurysm	Stimulate	29929532
Arthritis Rheumatoid	Associate	20878914, 25077978
Astrocytoma	Associate	18952587
Ataxia Telangiectasia	Associate	23867477, 23897887, 24021630, 33215756, 9000041
Autoimmune Diseases	Associate	29339359
Body Dysmorphic Disorders	Associate	23722905
Bone Marrow Failure Disorders	Associate	29459202, 32103174
Brain Neoplasms	Associate	25307264
Breast Neoplasms	Associate	10400681, 22815474, 25205036, 27273637, 29133620, 31513357, 35031618, 36732634
Cap Myopathy	Associate	21629734
Carcinogenesis	Associate	24136149, 36147467
Carcinoma	Associate	25188299
Carcinoma Hepatocellular	Associate	12378618, 12679910, 21410269, 25337275, 25944161, 27831650, 30301934, 31194786, 33006365, 33411682, 36147467, 36634747
Carcinoma Hepatocellular	Stimulate	24136149
Carcinoma Hepatocellular	Inhibit	25944161
Carcinoma Large Cell	Associate	35641209
Carcinoma Merkel Cell	Associate	25531179
Carcinoma Non Small Cell Lung	Associate	18457328, 24066112, 25921135, 32887472, 33414509
Carcinoma Pancreatic Ductal	Associate	35998796
Carcinoma Renal Cell	Associate	34781823, 35440542
Carcinoma Squamous Cell	Associate	27246533, 35426246, 36862864
Cardiomyopathy Dilated	Associate	12354434
Cholangiocarcinoma	Associate	35732325
Chromosome Breakage	Associate	26631035
Chromosome Disorders	Associate	21559021
Cockayne Syndrome	Associate	21214942
Cognition Disorders	Associate	29186589
Colorectal Neoplasms	Associate	24338765, 27690730, 30262880, 31350979, 31530839, 33627384, 35054819, 35758246, 35881546
Conversion Disorder	Associate	23722905
COVID 19	Associate	33971585
Death	Associate	18457328, 40557871
DNA Virus Infections	Associate	25921135, 27939942, 32453758, 38593799
DNA Virus Infections	Stimulate	28654064
Drug Hypersensitivity	Associate	10945500, 39519361
Drug Related Side Effects and Adverse Reactions	Associate	12481432, 27690730, 30964658
Endometrial Neoplasms	Associate	26689674
Esophageal Squamous Cell Carcinoma	Associate	35426246
Fanconi Anemia	Associate	11124945, 26603260
Fanconi Anemia Complementation Group J	Associate	37580814
Fever	Associate	12378618
Gallbladder Neoplasms	Associate	33328484
Genetic Diseases Inborn	Associate	33035590
Genetic Predisposition to Disease	Associate	22404984
Glioblastoma	Associate	19318434, 19933707, 20711342, 22404984, 22770110, 23007634, 31522595, 32732911, 34763650, 36574362, 36732634, 40362634
Glioma	Associate	12691524, 26464705, 27811370, 32732911, 33782505, 35414100, 35888608, 36732634, 9705502
Graft vs Host Disease	Associate	37002788
Hereditary Angioedema Type III	Associate	29339359
Herpesviridae Infections	Associate	38593799
Hypoxia	Stimulate	33288855, 40244269
Hypoxia	Associate	35031618
Hypoxia Brain	Associate	35031618
Immune System Diseases	Associate	39198533
Immunologic Deficiency Syndromes	Associate	33035590, 37580814
Inflammation	Associate	31995759, 36574362
Kidney Diseases	Associate	37002788
Leiomyosarcoma	Associate	37143137
Leukemia	Associate	15010369
Leukemia B Cell	Associate	32103174
Leukemia Lymphocytic Chronic B Cell	Associate	15718417, 21083655, 9746757
Leukemia Myeloid	Associate	32103174
Leukemia Myeloid Acute	Associate	37895013
Leukemia Prolymphocytic T Cell	Associate	21083655
Leukoplakia	Associate	23437280
Lung Neoplasms	Associate	27341700, 31055244, 33316855, 36862864
Lupus Erythematosus Systemic	Associate	37580814, 7957065
Lymphoma Large B Cell Diffuse	Associate	23960188
Macular Degeneration	Associate	23204796
Malformations of Cortical Development	Associate	23722905
Medulloblastoma	Associate	25835728
Melanoma	Stimulate	21671477
Melanoma Cutaneous Malignant	Stimulate	21671477
Melanoma Cutaneous Malignant	Associate	33057211
Microcephaly	Associate	23722905
Microphthalmia Syndromic 10	Associate	37580814
Microsatellite Instability	Associate	31530839
Mitochondrial Diseases	Associate	38040710
Multiple Myeloma	Associate	19028508, 25790254, 32410217
Nasopharyngeal Carcinoma	Associate	17700973, 31289279
Nasopharyngeal Neoplasms	Associate	33963177
Necrosis	Associate	21679440
Neoplasm Metastasis	Associate	21559021, 33035590
Neoplasms	Associate	10945500, 12626129, 16685270, 18457328, 18508926, 18632984, 18785202, 20193758, 21343400, 21559021, 21679440, 22112941, 22833098, 23183621, 23388457 View all (39 more)
Neoplasms	Stimulate	19672258, 39519361
Neoplasms	Inhibit	33006365
Nerve Degeneration	Associate	33035590
Neuralgia	Associate	33557274
Neuroblastoma	Associate	10037464, 37957169
Neuroblastoma	Stimulate	26716839
Neurodegenerative Diseases	Associate	33857636
Neurologic Manifestations	Associate	23722905
Oropharyngeal Neoplasms	Associate	30185662
Osteosarcoma	Associate	28300555, 37951196, 38216092
Ovarian Neoplasms	Associate	20204287, 23575069, 27629740
Pancreatic Neoplasms	Associate	25002126, 35348737, 36894917
Parathyroid Diseases	Associate	37854190
Parathyroid Neoplasms	Inhibit	17227113
Parvoviridae Infections	Stimulate	34878919
Personality Disorders	Associate	35078861
Polyendocrinopathies Autoimmune	Associate	17997173
Pre Eclampsia	Associate	36421809
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	33615686
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	33615686
Prostatic Neoplasms	Associate	11571633, 23308052, 27187356, 35078861, 37751307
Prostatic Neoplasms Castration Resistant	Associate	34716314
Pulmonary Disease Chronic Obstructive	Associate	35860812
Radiation Injuries	Associate	14556663, 27160694, 35164800
Recombinant chromosome 8 syndrome	Associate	37143137
Rectal Neoplasms	Associate	36402747
Salivary Gland Neoplasms	Associate	26035306
Schizophrenia	Associate	19142223
Seizures	Associate	23722905
Severe Acute Respiratory Syndrome	Associate	28750002
Severe Combined Immunodeficiency	Associate	21721379, 28082683, 28750002, 30778343, 35303369
Severe combined immunodeficiency with sensitivity to ionizing radiation	Associate	35801871
Shwachman Diamond Syndrome	Associate	19602484
Sleep Deprivation	Associate	10037464, 16528719
Small Cell Lung Carcinoma	Associate	25495526, 35641209, 36862864, 37116859
Squamous Cell Carcinoma of Head and Neck	Associate	14556663, 23437280, 34204447, 35830713, 36768994
Stomach Neoplasms	Associate	22559327, 24187467, 28970727, 31173270
Surgical Wound Infection	Associate	37002788
Thyroid cancer medullary	Associate	26065416
Thyroid Neoplasms	Associate	23183621, 26065416, 30476230, 32567663
Triple Negative Breast Neoplasms	Associate	30725116
Tuberculosis Multidrug Resistant	Associate	20663232
Urinary Bladder Neoplasms	Associate	22927776, 32596394
Uterine Cervical Neoplasms	Associate	19672258, 23052694
Virus Diseases	Associate	38593799
Werner Syndrome	Associate	19372586, 20519774, 24429382
X Linked Combined Immunodeficiency Diseases	Associate	23722905, 9705502
Xeroderma Pigmentosum	Associate	19797196

PRKDC (protein kinase, DNA-activated, catalytic subunit)