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	51755
Gene name	Cyclin dependent kinase 12
Gene symbol	CDK12
Synonyms (NCBI Gene)	CRK7CRKRCRKRS
Chromosome	17
Chromosome location	17q12

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1131692238	G>T	Likely-pathogenic	Coding sequence variant, missense variant

271

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047459	hsa-miR-10b-5p	CLASH	23622248
MIRT044886	hsa-miR-193a-3p	CLASH	23622248
MIRT041547	hsa-miR-193b-3p	CLASH	23622248
MIRT041108	hsa-miR-503-5p	CLASH	23622248
MIRT037446	hsa-miR-744-5p	CLASH	23622248
MIRT624373	hsa-miR-548aa	HITS-CLIP	23824327
MIRT624372	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT624371	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT624370	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT624369	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT624368	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624367	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT659650	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT659649	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT659648	hsa-miR-765	HITS-CLIP	23824327
MIRT659647	hsa-miR-6894-5p	HITS-CLIP	23824327
MIRT624365	hsa-miR-4443	HITS-CLIP	23824327
MIRT624366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT624373	hsa-miR-548aa	HITS-CLIP	23824327
MIRT624372	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT624371	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT624370	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT624368	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624367	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT638900	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624365	hsa-miR-4443	HITS-CLIP	23824327
MIRT624366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT624373	hsa-miR-548aa	HITS-CLIP	23824327
MIRT624372	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT624371	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT624370	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT624369	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT624368	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624367	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT624365	hsa-miR-4443	HITS-CLIP	23824327
MIRT624366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT624373	hsa-miR-548aa	HITS-CLIP	23824327
MIRT624372	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT624371	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT624370	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT624369	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT624368	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624367	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT659650	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT659649	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT659648	hsa-miR-765	HITS-CLIP	23824327
MIRT659647	hsa-miR-6894-5p	HITS-CLIP	23824327
MIRT624365	hsa-miR-4443	HITS-CLIP	23824327
MIRT624366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT624373	hsa-miR-548aa	HITS-CLIP	23824327
MIRT624372	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT624371	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT624370	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT624368	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624367	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT638900	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624365	hsa-miR-4443	HITS-CLIP	23824327
MIRT624366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT624373	hsa-miR-548aa	HITS-CLIP	23824327
MIRT624372	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT624371	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT624370	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT624369	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT624368	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624367	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT624365	hsa-miR-4443	HITS-CLIP	23824327
MIRT624366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT880242	hsa-miR-3160-5p	CLIP-seq
MIRT880243	hsa-miR-3671	CLIP-seq
MIRT880244	hsa-miR-4768-5p	CLIP-seq
MIRT880245	hsa-miR-562	CLIP-seq
MIRT880246	hsa-miR-607	CLIP-seq
MIRT880247	hsa-miR-1297	CLIP-seq
MIRT880248	hsa-miR-132	CLIP-seq
MIRT880249	hsa-miR-154	CLIP-seq
MIRT880250	hsa-miR-186	CLIP-seq
MIRT880251	hsa-miR-212	CLIP-seq
MIRT880252	hsa-miR-26a	CLIP-seq
MIRT880253	hsa-miR-26b	CLIP-seq
MIRT880254	hsa-miR-3133	CLIP-seq
MIRT880255	hsa-miR-3200-5p	CLIP-seq
MIRT880256	hsa-miR-329	CLIP-seq
MIRT880257	hsa-miR-342-3p	CLIP-seq
MIRT880258	hsa-miR-362-3p	CLIP-seq
MIRT880259	hsa-miR-377	CLIP-seq
MIRT880260	hsa-miR-3941	CLIP-seq
MIRT880261	hsa-miR-4307	CLIP-seq
MIRT880262	hsa-miR-4465	CLIP-seq
MIRT880263	hsa-miR-4640-3p	CLIP-seq
MIRT880264	hsa-miR-4668-5p	CLIP-seq
MIRT880265	hsa-miR-4709-3p	CLIP-seq
MIRT880266	hsa-miR-4716-5p	CLIP-seq
MIRT880267	hsa-miR-4728-3p	CLIP-seq
MIRT880268	hsa-miR-4789-3p	CLIP-seq
MIRT880269	hsa-miR-567	CLIP-seq
MIRT880270	hsa-miR-570	CLIP-seq
MIRT880271	hsa-miR-587	CLIP-seq
MIRT880272	hsa-miR-603	CLIP-seq
MIRT1960788	hsa-miR-1245b-3p	CLIP-seq
MIRT1960789	hsa-miR-1283	CLIP-seq
MIRT1960790	hsa-miR-1323	CLIP-seq
MIRT1960791	hsa-miR-200b	CLIP-seq
MIRT1960792	hsa-miR-200c	CLIP-seq
MIRT1960793	hsa-miR-338-5p	CLIP-seq
MIRT1960794	hsa-miR-3682-5p	CLIP-seq
MIRT1960795	hsa-miR-429	CLIP-seq
MIRT1960796	hsa-miR-455-5p	CLIP-seq
MIRT1960797	hsa-miR-4659a-3p	CLIP-seq
MIRT1960798	hsa-miR-4659b-3p	CLIP-seq
MIRT880267	hsa-miR-4728-3p	CLIP-seq
MIRT1960799	hsa-miR-514	CLIP-seq
MIRT1960800	hsa-miR-514b-3p	CLIP-seq
MIRT1960801	hsa-miR-548o	CLIP-seq
MIRT1960802	hsa-miR-577	CLIP-seq
MIRT880271	hsa-miR-587	CLIP-seq
MIRT1960790	hsa-miR-1323	CLIP-seq
MIRT1960793	hsa-miR-338-5p	CLIP-seq
MIRT2197461	hsa-miR-451b	CLIP-seq
MIRT1960801	hsa-miR-548o	CLIP-seq
MIRT2197462	hsa-miR-103a	CLIP-seq
MIRT2197463	hsa-miR-105	CLIP-seq
MIRT2197464	hsa-miR-107	CLIP-seq
MIRT2197465	hsa-miR-1179	CLIP-seq
MIRT1960790	hsa-miR-1323	CLIP-seq
MIRT2197466	hsa-miR-138	CLIP-seq
MIRT2197467	hsa-miR-140-3p	CLIP-seq
MIRT2197468	hsa-miR-15a	CLIP-seq
MIRT2197469	hsa-miR-15b	CLIP-seq
MIRT2197470	hsa-miR-16	CLIP-seq
MIRT2197471	hsa-miR-195	CLIP-seq
MIRT2197472	hsa-miR-214	CLIP-seq
MIRT2197473	hsa-miR-3117-5p	CLIP-seq
MIRT880254	hsa-miR-3133	CLIP-seq
MIRT2197474	hsa-miR-3146	CLIP-seq
MIRT2197475	hsa-miR-325	CLIP-seq
MIRT880256	hsa-miR-329	CLIP-seq
MIRT1960793	hsa-miR-338-5p	CLIP-seq
MIRT2197476	hsa-miR-3612	CLIP-seq
MIRT2197477	hsa-miR-3619-5p	CLIP-seq
MIRT880258	hsa-miR-362-3p	CLIP-seq
MIRT2197478	hsa-miR-3651	CLIP-seq
MIRT2197479	hsa-miR-3675-3p	CLIP-seq
MIRT2197480	hsa-miR-370	CLIP-seq
MIRT2197481	hsa-miR-371-5p	CLIP-seq
MIRT2197482	hsa-miR-371b-5p	CLIP-seq
MIRT2197483	hsa-miR-3908	CLIP-seq
MIRT880260	hsa-miR-3941	CLIP-seq
MIRT2197484	hsa-miR-424	CLIP-seq
MIRT2197485	hsa-miR-4291	CLIP-seq
MIRT2197486	hsa-miR-4310	CLIP-seq
MIRT2197487	hsa-miR-4471	CLIP-seq
MIRT2197488	hsa-miR-4490	CLIP-seq
MIRT2197489	hsa-miR-4502	CLIP-seq
MIRT2197461	hsa-miR-451b	CLIP-seq
MIRT2197490	hsa-miR-4528	CLIP-seq
MIRT2197491	hsa-miR-4643	CLIP-seq
MIRT2197492	hsa-miR-466	CLIP-seq
MIRT2197493	hsa-miR-4662a-5p	CLIP-seq
MIRT2197494	hsa-miR-4685-5p	CLIP-seq
MIRT2197495	hsa-miR-4716-3p	CLIP-seq
MIRT880267	hsa-miR-4728-3p	CLIP-seq
MIRT2197496	hsa-miR-4762-3p	CLIP-seq
MIRT880244	hsa-miR-4768-5p	CLIP-seq
MIRT2197497	hsa-miR-4775	CLIP-seq
MIRT880268	hsa-miR-4789-3p	CLIP-seq
MIRT2197498	hsa-miR-4802-5p	CLIP-seq
MIRT2197499	hsa-miR-497	CLIP-seq
MIRT1960801	hsa-miR-548o	CLIP-seq
MIRT2197500	hsa-miR-548q	CLIP-seq
MIRT2197501	hsa-miR-582-3p	CLIP-seq
MIRT880271	hsa-miR-587	CLIP-seq
MIRT2197502	hsa-miR-590-3p	CLIP-seq
MIRT880272	hsa-miR-603	CLIP-seq
MIRT2197503	hsa-miR-625	CLIP-seq
MIRT2197504	hsa-miR-650	CLIP-seq
MIRT2197505	hsa-miR-761	CLIP-seq
MIRT2197506	hsa-miR-922	CLIP-seq
MIRT2197462	hsa-miR-103a	CLIP-seq
MIRT2197463	hsa-miR-105	CLIP-seq
MIRT2197464	hsa-miR-107	CLIP-seq
MIRT2197465	hsa-miR-1179	CLIP-seq
MIRT2500793	hsa-miR-1193	CLIP-seq
MIRT2500794	hsa-miR-1243	CLIP-seq
MIRT1960788	hsa-miR-1245b-3p	CLIP-seq
MIRT2500795	hsa-miR-1255a	CLIP-seq
MIRT2500796	hsa-miR-1255b	CLIP-seq
MIRT1960789	hsa-miR-1283	CLIP-seq
MIRT2500797	hsa-miR-129-3p	CLIP-seq
MIRT1960790	hsa-miR-1323	CLIP-seq
MIRT2197466	hsa-miR-138	CLIP-seq
MIRT2500798	hsa-miR-146a	CLIP-seq
MIRT2500799	hsa-miR-146b-5p	CLIP-seq
MIRT2500800	hsa-miR-1909	CLIP-seq
MIRT2500801	hsa-miR-204	CLIP-seq
MIRT2500802	hsa-miR-211	CLIP-seq
MIRT2500803	hsa-miR-2355-5p	CLIP-seq
MIRT2500804	hsa-miR-2392	CLIP-seq
MIRT2500805	hsa-miR-299-5p	CLIP-seq
MIRT2500806	hsa-miR-3074-5p	CLIP-seq
MIRT2500807	hsa-miR-30a	CLIP-seq
MIRT2500808	hsa-miR-30b	CLIP-seq
MIRT2500809	hsa-miR-30c	CLIP-seq
MIRT2500810	hsa-miR-30d	CLIP-seq
MIRT2500811	hsa-miR-30e	CLIP-seq
MIRT2197473	hsa-miR-3117-5p	CLIP-seq
MIRT2500812	hsa-miR-3126-5p	CLIP-seq
MIRT2500813	hsa-miR-3127-3p	CLIP-seq
MIRT2500814	hsa-miR-3134	CLIP-seq
MIRT2500815	hsa-miR-3154	CLIP-seq
MIRT2500816	hsa-miR-3188	CLIP-seq
MIRT2500817	hsa-miR-3202	CLIP-seq
MIRT2197475	hsa-miR-325	CLIP-seq
MIRT1960793	hsa-miR-338-5p	CLIP-seq
MIRT2197476	hsa-miR-3612	CLIP-seq
MIRT2197480	hsa-miR-370	CLIP-seq
MIRT2197481	hsa-miR-371-5p	CLIP-seq
MIRT2197482	hsa-miR-371b-5p	CLIP-seq
MIRT880259	hsa-miR-377	CLIP-seq
MIRT2500818	hsa-miR-3919	CLIP-seq
MIRT2500819	hsa-miR-3925-5p	CLIP-seq
MIRT2500820	hsa-miR-3944-5p	CLIP-seq
MIRT2500821	hsa-miR-3973	CLIP-seq
MIRT2500822	hsa-miR-4270	CLIP-seq
MIRT2197486	hsa-miR-4310	CLIP-seq
MIRT2500823	hsa-miR-4419a	CLIP-seq
MIRT2500824	hsa-miR-4434	CLIP-seq
MIRT2500825	hsa-miR-4441	CLIP-seq
MIRT2500826	hsa-miR-4477b	CLIP-seq
MIRT2500827	hsa-miR-448	CLIP-seq
MIRT2197488	hsa-miR-4490	CLIP-seq
MIRT2197489	hsa-miR-4502	CLIP-seq
MIRT2500828	hsa-miR-4510	CLIP-seq
MIRT2500829	hsa-miR-4516	CLIP-seq
MIRT2500830	hsa-miR-4533	CLIP-seq
MIRT1960796	hsa-miR-455-5p	CLIP-seq
MIRT880263	hsa-miR-4640-3p	CLIP-seq
MIRT2197493	hsa-miR-4662a-5p	CLIP-seq
MIRT2500831	hsa-miR-4755-5p	CLIP-seq
MIRT2500832	hsa-miR-4756-3p	CLIP-seq
MIRT2197496	hsa-miR-4762-3p	CLIP-seq
MIRT880244	hsa-miR-4768-5p	CLIP-seq
MIRT2500833	hsa-miR-4777-3p	CLIP-seq
MIRT880268	hsa-miR-4789-3p	CLIP-seq
MIRT2500834	hsa-miR-4796-3p	CLIP-seq
MIRT2197498	hsa-miR-4802-5p	CLIP-seq
MIRT2500835	hsa-miR-520d-5p	CLIP-seq
MIRT2500836	hsa-miR-520g	CLIP-seq
MIRT2500837	hsa-miR-520h	CLIP-seq
MIRT2500838	hsa-miR-524-5p	CLIP-seq
MIRT2500839	hsa-miR-548c-3p	CLIP-seq
MIRT1960801	hsa-miR-548o	CLIP-seq
MIRT2500840	hsa-miR-579	CLIP-seq
MIRT2500841	hsa-miR-585	CLIP-seq
MIRT2500842	hsa-miR-586	CLIP-seq
MIRT2500843	hsa-miR-623	CLIP-seq
MIRT2197504	hsa-miR-650	CLIP-seq
MIRT2500844	hsa-miR-656	CLIP-seq
MIRT1960789	hsa-miR-1283	CLIP-seq
MIRT2500800	hsa-miR-1909	CLIP-seq
MIRT2500815	hsa-miR-3154	CLIP-seq
MIRT2500820	hsa-miR-3944-5p	CLIP-seq
MIRT2500821	hsa-miR-3973	CLIP-seq
MIRT2500822	hsa-miR-4270	CLIP-seq
MIRT2500824	hsa-miR-4434	CLIP-seq
MIRT2500825	hsa-miR-4441	CLIP-seq
MIRT2500829	hsa-miR-4516	CLIP-seq
MIRT1960796	hsa-miR-455-5p	CLIP-seq
MIRT2500834	hsa-miR-4796-3p	CLIP-seq
MIRT2500836	hsa-miR-520g	CLIP-seq
MIRT2500837	hsa-miR-520h	CLIP-seq
MIRT2500841	hsa-miR-585	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0002944	Component	Cyclin K-CDK12 complex	IPI	22012619, 26597175
GO:0004672	Function	Protein kinase activity	IDA	11683387
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	12841360
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006366	Process	Transcription by RNA polymerase II	IDA	22988298
GO:0006397	Process	MRNA processing	IEA
GO:0008024	Component	Cyclin/CDK positive transcription elongation factor complex	IBA
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IBA
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IDA	22988298
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IEA
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IMP	20952539
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016607	Component	Nuclear speck	IDA	11683387
GO:0016607	Component	Nuclear speck	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019908	Component	Nuclear cyclin-dependent protein kinase holoenzyme complex	ISS
GO:0030332	Function	Cyclin binding	IBA
GO:0030332	Function	Cyclin binding	IEA
GO:0030332	Function	Cyclin binding	IPI	22012619
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IBA
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IDA	22988298
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IMP	19651820
GO:0043405	Process	Regulation of MAP kinase activity	IMP	19651820
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	19651820
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20952539
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0071391	Process	Cellular response to estrogen stimulus	IMP	19651820
GO:0106310	Function	Protein serine kinase activity	IEA
GO:2000737	Process	Negative regulation of stem cell differentiation	IEA

MIM	HGNC	e!Ensembl
615514	24224	ENSG00000167258

Q9NYV4

Protein name

Cyclin-dependent kinase 12 (EC 2.7.11.22) (EC 2.7.11.23) (Cdc2-related kinase, arginine/serine-rich) (CrkRS) (Cell division cycle 2-related protein kinase 7) (CDC2-related protein kinase 7) (Cell division protein kinase 12) (hCDK12)

Protein function

Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A), thereby acting as a key regulator of transcription elongation. Regulates the expression of genes involved in DNA repair a

PDB

4CXA , 4NST , 4UN0 , 5ACB , 6B3E , 6CKX , 6TD3 , 7NXK , 8BU1 , 8BU2 , 8BU3 , 8BU4 , 8BU5 , 8BU6 , 8BU7 , 8BU9 , 8BUA , 8BUB , 8BUC , 8BUD , 8BUE , 8BUF , 8BUG , 8BUH , 8BUI , 8BUJ , 8BUK , 8BUL , 8BUM , 8BUN , 8BUO , 8BUP , 8BUQ , 8BUR , 8BUS , 8BUT , 8P81 , 9FMR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	727 → 1020	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11683387}.

Sequence

MPNSERHGGKKDGSGGASGTLQPSSGGGSSNSRERHRLVSKHKRHKSKHSKDMGLVTPEA
ASLGTVIKPLVEYDDISSDSDTFSDDMAFKLDRRENDERRGSDRSDRLHKHRHHQHRRSR
DLLKAKQTEKEKSQEVSSKSGSMKDRISGSSKRSNEETDDYGKAQVAKSSSKESRSSKLH
KEKTRKERELKSGHKDRSKSHRKRETPKSYKTVDSPKRRSRSPHRKWSDSSKQDDSPSGA
SYGQDYDLSPSRSHTSSNYDSYKKSPGSTSRRQSVSPPYKEPSAYQSSTRSPSPYSRRQR
SVSPYSRRRSSSYERSGSYSGRSPSPYGRRRSSSPFLSKRSLSRSPLPSRKSMKSRSRSP
AYSRHSSSHSKKKRSSSRSRHSSISPVRLPLNSSLGAELSRKKKERAAAAAAAKMDGKES
KGSPVFLPRKENSSVEAKDSGLESKKLPRSVKLEKSAPDTELVNVTHLNTEVKNSSDTGK
VKLDENSEKHLVKDLKAQGTRDSKPIALKEEIVTPKETETSEKETPPPLPTIASPPPPLP
TTTPPPQTPPLPPLPPIPALPQQPPLPPSQPAFSQVPASSTSTLPPSTHSKTSAVSSQAN
SQPPVQVSVKTQVSVTAAIPHLKTSTLPPLPLPPLLPGDDDMDSPKETLPSKPVKKEKEQ
RTRHLLTDLPLPPELPGGDLSPPDSPEPKAITPPQQPYKKRPKICCPRYGERRQTESDWG
KRCVDKFDIIGIIGEGTYGQVYKAKDKDTGELVALKKVRLDNEKEGFPITAIREIKILRQ
LIHRSVVNMKEIVTDKQDALDFKKDKGAFYLVFEYMDHDLMGLLESGLVHFSEDHIKSFM
KQLMEGLEYCHKKNFLHRDIKCSNILLNNSGQIKLADFGLARLYNSEESRPYTNKVITLW
YRPPELLLGEERYTPAIDVWSCGCILGELFTKKPIFQANLELAQLELISRLCGSPCPAVW
PDVIKLPYFNTMKPKKQYRRRLREEFSFIPSAALDLLDHMLTLDPSKRCTAEQTLQSDFL
KDVELSKMAPPDLPHWQDCHELWSKKRRRQRQSGVVVEEPPPSKTSRKETTSGTSTEPVK
NSSPAPPQPAPGKVESGAGDAIGLADITQQLNQSELAVLLNLLQSQTDLSIPQMAQLLNI
HSNPEMQQQLEALNQSISALTEATSQQQDSETMAPEESLKEAPSAPVILPSAEQTTLEAS
STPADMQNILAVLLSQLMKTQEPAGSLEENNSDKNSGPQGPRRTPTMPQEEAAACPPHIL
PPEKRPPEPPGPPPPPPPPPLVEGDLSSAPQELNPAVTAALLQLLSQPEAEPPGHLPHEH
QALRPMEYSTRPRPNRTYGNTDGPETGFSAIDTDERNSGPALTESLVQTLVKNRTFSGSL
SHLGESSSYQGTGSVQFPGDQDLRFARVPLALHPVVGQPFLKAEGSSNSVVHAETKLQNY
GELGPGTTGASSSGAGLHWGGPTQSSAYGKLYRGPTRVPPRGGRGRGVPY

Sequence length

1490

Interactions

View interactions

	Reactome
			TP53 Regulates Transcription of DNA Repair Genes

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lung adenocarcinoma	Likely pathogenic	rs1131692238	RCV000491773

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CDK12-related disorder	Benign; Likely benign	rs12950784, rs35896550, rs61747413, rs61747430, rs61741615, rs56362165, rs34070318, rs149034064, rs138760396, rs56158954, rs61747400, rs183497483, rs144241130, rs959591701, rs56403491 View all (7 more)	RCV003931241 RCV003931257 RCV003925174 RCV003915194 RCV003925175 RCV003915195 RCV003925176 RCV003916393 RCV003951343 RCV003916394 RCV003926332 RCV003909406 RCV003924052 RCV003893616 RCV003912277 RCV003934055 RCV003941377 RCV003941727 RCV003914374 RCV003922026 RCV003969228 RCV003976280
Hereditary breast ovarian cancer syndrome	Benign; Likely benign; Uncertain significance	rs12950784, rs8070799, rs35896550, rs72827109, rs112561954, rs61747413, rs61747430, rs61741615, rs56362165, rs34070318, rs753195869, rs183690426, rs149034064, rs1222067329, rs138760396 View all (15 more)	RCV002225871 RCV002225876 RCV002225896 RCV002225904 RCV002225917 RCV002225369 RCV002225370 RCV002225371 RCV002225372 RCV002225373 RCV002226289 RCV002226290 RCV002226291 RCV002226293 RCV002226294 RCV002226295 RCV002226296 RCV002226297 RCV002226298 RCV002226299 RCV002226300 RCV002226301 RCV002226302 RCV002226303 RCV002226304 RCV002226305 RCV002226306 RCV002226307 RCV002226308 RCV002226309 RCV002226310
Hereditary cancer	Conflicting classifications of pathogenicity	rs767287779	RCV005235641
Malignant lymphoma, large B-cell, diffuse	Benign	rs11657899	RCV005922206
Ovarian serous cystadenocarcinoma	Likely benign	rs370484448	RCV005929934
Uterine carcinosarcoma	Benign	rs11657899	RCV005922207

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	32534699
Adenocarcinoma of Lung	Associate	30617155
Biliary Tract Neoplasms	Associate	35583261
Breast Neoplasms	Associate	24395524, 27251275, 28334900, 29133620, 32638235, 36404592, 38335502, 39264897, 40623188
Breast Neoplasms Male	Associate	33964913
Calcinosis Cutis	Associate	32220891
Carcinogenesis	Associate	28334900
Carcinoma Non Small Cell Lung	Associate	28230015, 38132164
Chordoma	Associate	30664779
Colorectal Neoplasms	Associate	34289372, 35567913, 36254394
DNA Virus Infections	Associate	29906450, 32534699, 32634759
Gallbladder Neoplasms	Associate	33328484
Genetic Diseases Inborn	Associate	31874108
Heart Defects Congenital	Associate	37404133
Hereditary Breast and Ovarian Cancer Syndrome	Associate	28334900, 40623188
Hypoplastic Left Heart Syndrome	Associate	37404133
Leukemia	Associate	35253392
Leukemia Myeloid Acute	Associate	35253392
Lung Neoplasms	Associate	28230015, 33407425
Lymphatic Metastasis	Associate	33441952
Medulloblastoma	Associate	29984917, 37599362
Melanoma	Associate	36309522
Microsatellite Instability	Associate	34562615
Multiple Myeloma	Associate	32060401
Neoplasm Metastasis	Associate	28230015, 31640893, 32534699, 36254394, 37828555
Neoplasms	Associate	22544022, 24395524, 25712099, 28334900, 29906450, 29996110, 31040255, 31292271, 32234758, 32988971, 33038052, 33511732, 34289372, 34562615, 35183184 View all (10 more)
Neoplasms	Inhibit	26189575, 30531873, 32534699, 34479548
Ovarian Diseases	Associate	34562615
Ovarian Neoplasms	Associate	24554720, 25429106, 25712099, 27905519, 31292271, 32317181, 32639993, 34562615, 37202753
Ovarian Neoplasms	Inhibit	40623188
Pancreatic Neoplasms	Associate	31917448, 35583261
Prostatic Neoplasms	Associate	29906450, 31134918, 31292271, 31300540, 31640893, 31874108, 31972048, 32234758, 32317181, 32988971, 33214693, 34315855, 34562615, 35871039, 36129942 View all (5 more)
Prostatic Neoplasms Castration Resistant	Associate	29906450, 31748536, 31874108, 32086346, 32988971, 33690902, 33906368, 35183184, 35871039, 36358026, 39293514
Prostatitis	Associate	31292271, 32317181
Recombinant chromosome 8 syndrome	Associate	24554720, 32639993, 35643464
Sarcoma Ewing	Associate	29358035
Stomach Neoplasms	Associate	31523177, 33441952
Stomach Neoplasms	Inhibit	32534699
Triple Negative Breast Neoplasms	Associate	27491809, 31715127, 35938508, 38049758
Turcot syndrome	Associate	34562615
Urethral Neoplasms	Associate	33038052, 37986697

CDK12 (cyclin dependent kinase 12)