Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51755
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDK12
Synonyms (NCBI Gene) Gene synonyms aliases
CRK7, CRKR, CRKRS
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1131692238 G>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615514 24224 ENSG00000167258
Protein
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    TP53 Regulates Transcription of DNA Repair Genes
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
lung adenocarcinoma Lung adenocarcinoma rs1131692238 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma in any disease, Nonatopic asthma, Atopic asthma N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes or schizophrenia (pleiotropy), Type 2 diabetes, Type 2 diabetes (PheCode 250.2), Type 2 diabetes with neurological manifestations (PheCode 250.24) N/A N/A GWAS
Hyperopia Hyperopia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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