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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5588
Gene name Gene Name - the full gene name approved by the HGNC.	Protein kinase C theta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PRKCQ
Synonyms (NCBI Gene) Gene synonyms aliases	PRKCT, nPKC-theta
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p15.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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miRTarBase ID	miRNA	Experiments
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

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Transcription factor	Regulation	Reference
RUNX1	Unknown	21252065

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	8444877
GO:0001772	Component	Immunological synapse	IEA
GO:0004672	Function	Protein kinase activity	TAS
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	16356856
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	NAS	8444877
GO:0004698	Function	Calcium-dependent protein kinase C activity	IEA
GO:0005515	Function	Protein binding	IPI	10383400, 10636891, 11788586, 15254234, 17588663, 21964608, 21983831, 23352416, 23509302
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006355	Process	Regulation of transcription, DNA-templated	ISS
GO:0006509	Process	Membrane protein ectodomain proteolysis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0016235	Component	Aggresome	IDA
GO:0018105	Process	Peptidyl-serine phosphorylation	IBA	21873635
GO:0030168	Process	Platelet activation	TAS
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	21531765
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	ISS
GO:0034451	Component	Centriolar satellite	IDA
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	NAS	7686153
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0045652	Process	Regulation of megakaryocyte differentiation	TAS
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IMP	15364919
GO:0046872	Function	Metal ion binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050870	Process	Positive regulation of T cell activation	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	16356855
GO:0051973	Process	Positive regulation of telomerase activity	IMP	21531765
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	ISS
GO:1904355	Process	Positive regulation of telomere capping	IMP	21531765
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	ISS
GO:2000570	Process	Positive regulation of T-helper 2 cell activation	ISS

MIM	HGNC	e!Ensembl
600448	9410	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

Interactions

View interactions

	KEGG		Reactome
	NF-kappa B signaling pathway Autophagy - animal Vascular smooth muscle contraction Th1 and Th2 cell differentiation Th17 cell differentiation T cell receptor signaling pathway Inflammatory mediator regulation of TRP channels Adipocytokine signaling pathway Insulin resistance Shigellosis PD-L1 expression and PD-1 checkpoint pathway in cancer		Apoptotic cleavage of cellular proteins Effects of PIP2 hydrolysis Downstream TCR signaling FCERI mediated NF-kB activation Netrin-1 signaling RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Colorectal cancer	Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	19430480, 18978792
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Lymphoma	Lymphoma, T-Cell, Cutaneous	rs11540652, rs1592119138, rs1592123162, rs1599367044	26192916
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091	26978024
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	20453842, 18794853, 23143596

Show/Hide Unknown Diseases (7)

Disease term	Disease name	References	Source
Unknown
Asthma	Asthma, Childhood asthma	30929738, 31036433	ClinVar, GWAS
Crohn disease	Crohn Disease, Regional enteritis	26974007	ClinVar
Eczema	Eczema		GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS
Dermatitis	Dermatitis		GWAS
Ulcerative colitis	Ulcerative colitis		GWAS
Crohn Disease	Crohn Disease		GWAS

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text Mining
Acute Kidney Injury	Associate	33863396
Adenocarcinoma of Lung	Associate	35029906
Alopecia	Associate	31908401
Angioedema	Inhibit	23838604
Angioedema	Associate	23838604, 32080354
Arthritis Juvenile	Associate	19674979, 28990043
Arthritis Rheumatoid	Associate	19503088
Asthma	Associate	34741802
Autoimmune Diseases	Associate	26784953, 31908401
Breast Neoplasms	Associate	24319668, 24891615, 40597019
Carcinoma	Associate	24718460
Carcinoma Renal Cell	Associate	31626592
Chronic Pain	Associate	33685280
Colorectal Neoplasms	Associate	37358216
Crohn Disease	Associate	36746519
Diabetes Mellitus Type 1	Associate	21270831
Disease	Associate	25052311
Drug Hypersensitivity	Associate	32603359
Gastrointestinal Stromal Tumors	Stimulate	18521081
Gastrointestinal Stromal Tumors	Associate	21358619
Headache	Associate	31908401
Idiopathic Pulmonary Fibrosis	Inhibit	36578501
Inflammation	Associate	24891615, 36047722
Insulin Resistance	Associate	36047722
Kidney Neoplasms	Associate	36189312
Leukemia T Cell	Associate	11274147
Lymphoma Primary Cutaneous Anaplastic Large Cell	Associate	19710685
Lymphoma T Cell Peripheral	Associate	19710685
Mitochondrial Diseases	Associate	36047722
Neoplasm Metastasis	Associate	40597019
Neoplasms	Associate	21836495, 22742445, 27121473, 40597019
Neoplasms	Stimulate	24319668
Neoplasms	Inhibit	38092752
Neuralgia Postherpetic	Associate	33685280
Paralyses Familial Periodic	Associate	30838349
Personality Disorders	Associate	22546513
Polycystic Ovary Syndrome	Associate	38243290
Prostatic Neoplasms	Associate	22546513
Pulmonary Disease Chronic Obstructive	Associate	37955025
Sarcopenia	Associate	34371826
Sezary Syndrome	Associate	27121473
Shock Septic	Associate	33863396
Thyroid Cancer Papillary	Associate	38092752
Thyroid Neoplasms	Associate	24718460, 39252309
Tinnitus	Associate	31908401
Triple Negative Breast Neoplasms	Associate	32600444
Tuberculosis Multidrug Resistant	Associate	11488907
Uveomeningoencephalitic Syndrome	Associate	31908401
Waardenburg Syndrome	Associate	31908401

PRKCQ (protein kinase C theta)