PRKCQ (protein kinase C theta)

Gene

• Entrez ID: 5588
• Gene name: Protein kinase C theta
• Gene symbol: PRKCQ
• Synonyms (NCBI Gene): PRKCT, nPKC-theta
• Chromosome: 10
• Chromosome location: 10p15.1
• Summary: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2236379	G>A,C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1263387	hsa-miR-3659	CLIP-seq
MIRT1263388	hsa-miR-4658	CLIP-seq
MIRT1263389	hsa-miR-4758-5p	CLIP-seq
MIRT1263390	hsa-miR-574-5p	CLIP-seq
MIRT1263391	hsa-miR-622	CLIP-seq
MIRT1263392	hsa-miR-653	CLIP-seq
MIRT2304083	hsa-miR-221	CLIP-seq
MIRT2304084	hsa-miR-222	CLIP-seq
MIRT2304085	hsa-miR-4726-3p	CLIP-seq
MIRT2304086	hsa-miR-544	CLIP-seq
MIRT2304087	hsa-miR-548v	CLIP-seq
MIRT2304088	hsa-miR-577	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
RUNX1	Unknown	21252065

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001558	Process	Regulation of cell growth	NAS	8444877
GO:0001772	Component	Immunological synapse	IEA
GO:0002376	Process	Immune system process	IEA
GO:0004672	Function	Protein kinase activity	IDA	34593629
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	NAS	8444877
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	EXP	16356856
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	IEA
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	10383400, 10636891, 11788586, 15254234, 17588663, 21964608, 21983831, 23352416, 23509302, 34593629
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006509	Process	Membrane protein ectodomain proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016235	Component	Aggresome	IDA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	21531765
GO:0032740	Process	Positive regulation of interleukin-17 production	IEA
GO:0032740	Process	Positive regulation of interleukin-17 production	ISS
GO:0032743	Process	Positive regulation of interleukin-2 production	IEA
GO:0032753	Process	Positive regulation of interleukin-4 production	IEA
GO:0032753	Process	Positive regulation of interleukin-4 production	ISS
GO:0034451	Component	Centriolar satellite	IDA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	NAS	7686153
GO:0035739	Process	CD4-positive, alpha-beta T cell proliferation	IEA
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042110	Process	T cell activation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IMP	15364919
GO:0046872	Function	Metal ion binding	IEA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0050870	Process	Positive regulation of T cell activation	ISS
GO:0051054	Process	Positive regulation of DNA metabolic process	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	16356855
GO:0060326	Process	Cell chemotaxis	IEA
GO:0060326	Process	Cell chemotaxis	IMP	24008408
GO:0070233	Process	Negative regulation of T cell apoptotic process	IMP	11342610, 16709830
GO:0090330	Process	Regulation of platelet aggregation	IEA
GO:0090330	Process	Regulation of platelet aggregation	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	IEA
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	ISS
GO:2000563	Process	Positive regulation of CD4-positive, alpha-beta T cell proliferation	IEA
GO:2000570	Process	Positive regulation of T-helper 2 cell activation	IEA
GO:2000570	Process	Positive regulation of T-helper 2 cell activation	ISS

Other IDs

• MIM: 600448
• HGNC: 9410
• e!Ensembl: ENSG00000065675

Protein

• UniProt ID: Q04759
• Protein name: Protein kinase C theta type (EC 2.7.11.13) (nPKC-theta)
• Protein function: Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signaling, including T-cells activation, proliferation, differentiation and surv
• PDB: 1XJD, 2ENJ, 2ENN, 2ENZ, 2JED, 4Q9Z, 4RA5, 5F9E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00130	C1_1	160 → 212	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00130	C1_1	232 → 284	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00069	Pkinase	380 → 634	Protein kinase domain	Domain
  PF00433	Pkinase_C	655 → 696	Protein kinase C terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle, T-cells, megakaryoblastic cells and platelets. {ECO:0000269|PubMed:7686153}.
• Sequence:

  MSPFLRIGLSNFDCGSCQSCQGEAVNPYCAVLVKEYVESENGQMYIQKKPTMYPPWDSTF
  DAHINKGRVMQIIVKGKNVDLISETTVELYSLAERCRKNNGKTEIWLELKPQGRMLMNAR
  YFLEMSDTKDMNEFETEGFFALHQRRGAIKQAKVHHVKCHEFTATFFPQPTFCSVCHEFV
  WGLNKQGYQCRQCNAAIHKKCIDKVIAKCTGSAINSRETMFHKERFKIDMPHRFKVYNYK
  SPTFCEHCGTLLWGLARQGLKCDACGMNVHHRCQTKVANLCGINQKLMAEALAMIESTQQ
  ARCLRDTEQIFREGPVEIGLPCSIKNEARPPCLPTPGKREPQGISWESPLDEVDKMCHLP
  EPELNKERPSLQIKLKIEDFILHKMLGKGSFGKVFLAEFKKTNQFFAIKALKKDVVLMDD
  DVECTMVEKRVLSLAWEHPFLTHMFCTFQTKENLFFVMEYLNGGDLMYHIQSCHKFDLSR
  ATFYAAEIILGLQFLHSKGIVYRDLKLDNILLDKDGHIKIADFGMCKENMLGDAKTNTFC
  GTPDYIAPEILLGQKYNHSVDWWSFGVLLYEMLIGQSPFHGQDEEELFHSIRMDNPFYPR
  WLEKEAKDLLVKLFVREPEKRLGVRGDIRQHPLFREINWEELERKEIDPPFRPKVKSPFD
  CSNFDKEFLNEKPRLSFADRALINSMDQNMFRNFSFMNPGMERLIS

• Sequence length: 706

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL PRECOCIOUS PUBERTY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	23838604	Inhibit	★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	23838604, 32080354	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Juvenile	Juvenile arthritis	Pubtator	19674979, 28990043	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19503088	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	34741802	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23817999, 26784953, 30274941, 30992398		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	26784953, 31908401	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	26784953		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24319668, 24891615, 40597019	Associate	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	18978792		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	24718460	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31626592	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	19648290		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	33685280	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37358216	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	30828974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	36746519	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21270831	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	18978792		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	19430480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	19430480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	18978792		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	18978792		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	18978792		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	22546513		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	15217944, 15289315		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15289315, 18521081, 21358619, 21400668, 23862765		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	18521081	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21358619	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30738321		★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	31908401	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36578501	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	36047722	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	19674979, 28990043		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36189312	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21983831		★☆☆☆☆ Found in Text Mining only
Lymphoma Primary Cutaneous Anaplastic Large Cell	Primary cutaneous anaplastic large cell lymphoma	Pubtator	19710685	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24319668		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24718460		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23086478		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18037997		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36047722	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28089792		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18521081		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	38243290	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23086478, 27494091		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22546513	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37955025	Associate	★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	CTD_human_DG	26978024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	CTD_human_DG	26978024		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	18794853, 20453842, 23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19503088, 19648290, 23817999, 30704835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcopenia	Sarcopenia	Pubtator	34371826	Associate	★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27121473	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	15592506		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	38092752	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24718460		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24718460		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24718460, 39252309	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32600444	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	31908401	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	31908401	Associate	★☆☆☆☆ Found in Text Mining only