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

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lung adenocarcinoma	Likely pathogenic	rs1131692238	RCV000491773	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CDK12-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	30535470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	31615655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	35583261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28334900, 29133620, 31468695, 31744448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24395524, 27251275, 28334900, 29133620, 32638235, 36404592, 38335502, 39264897, 40623188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	33964913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28334900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28230015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25712099, 26787835, 27662623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	30664779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	22479191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34289372, 35567913, 36254394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29358035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33328484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	37404133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	28334900, 40623188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	37404133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35253392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35253392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31519701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28230015, 33407425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33441952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24395524, 28334900, 29133620, 31468695, 31744448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28230015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25712099, 26787835, 27662623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30104286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26787835, 29906450, 31640893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31523177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25712099, 26787835, 28334900, 30067358, 30104286, 30819820, 30988284, 31292271, 31347271, 31468695, 31744448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31468695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	29984917, 37599362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36309522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	31640893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	27073218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32060401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22544022, 24240700, 25712099, 27905519, 29025359, 29358035, 29872499, 29906450, 30104286, 30487607, 31468695, 31640893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31498151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	25712099, 26787835, 27662623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	34562615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24554720, 25429106, 25712099, 27905519, 31292271, 32317181, 32639993, 34562615, 37202753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	40623188	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31917448, 35583261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29906450, 31640893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29906450, 31134918, 31292271, 31300540, 31640893, 31874108, 31972048, 32234758, 32317181, 32988971, 33214693, 34315855, 34562615, 35871039, 36129942 View all (5 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	29358035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31523177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31523177, 33441952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32534699	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27491809, 31715127, 35938508, 38049758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27880910, 31668947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	34562615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CDK12 (cyclin dependent kinase 12)