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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5582
Gene name Gene Name - the full gene name approved by the HGNC.	Protein kinase C gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PRKCG
Synonyms (NCBI Gene) Gene synonyms aliases	PKC-gamma, PKCC, PKCG, PKCI(3), PKCgamma, SCA14
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.42
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 second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in d

Show/Hide all(32)

SNP ID	Visualize variation	Clinical significance	Consequence
rs78437096	T>A,C,G	Benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121918511	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918512	T>C	Pathogenic	Coding sequence variant, missense variant
rs121918513	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918514	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918515	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918516	T>C	Pathogenic	Coding sequence variant, missense variant
rs121918517	A>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121918518	C>G	Pathogenic	Coding sequence variant, missense variant
rs386134157	A>G	Pathogenic	Missense variant, coding sequence variant
rs386134158	G>C	Pathogenic	Missense variant, coding sequence variant
rs386134159	G>T	Pathogenic	Missense variant, coding sequence variant
rs386134160	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs386134161	ACACAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs386134162	G>A	Pathogenic	Missense variant, coding sequence variant
rs386134163	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs386134164	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs386134165	G>A	Pathogenic	Missense variant, coding sequence variant
rs386134166	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs386134167	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs386134168	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs386134169	C>A	Pathogenic	Missense variant, coding sequence variant
rs386134170	GC>TT	Pathogenic	Missense variant, coding sequence variant
rs386134171	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906679	G>T	Pathogenic	Coding sequence variant, missense variant
rs797045900	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1303074743	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1406338491	G>A,T	Likely-pathogenic	Splice donor variant
rs1555806333	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555808841	GTAATCTCACCCGCCGCCACTAGGTGTCCCCAACGTCCCCTCCGCCGTGCCGGCGGCAGCCCCACTTCACCCCCAACTTCACCACCCCCTGTCCCATTCTAG>-	Pathogenic	Stop lost, terminator codon variant, splice donor variant, inframe indel, intron variant, 3 prime UTR variant, splice acceptor variant
rs1599938631	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1599943097	C>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017708	hsa-miR-335-5p	Microarray	18185580
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1552563	hsa-miR-1243	CLIP-seq
MIRT1552564	hsa-miR-1281	CLIP-seq
MIRT1552565	hsa-miR-3654	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1552563	hsa-miR-1243	CLIP-seq
MIRT1552564	hsa-miR-1281	CLIP-seq
MIRT2077475	hsa-miR-1324	CLIP-seq
MIRT1552565	hsa-miR-3654	CLIP-seq
MIRT2077476	hsa-miR-4475	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT2077477	hsa-miR-615-3p	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT2457162	hsa-miR-4693-3p	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT2457162	hsa-miR-4693-3p	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq

Show/Hide all(73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	15808853
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:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	IEA
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	TAS	3755548
GO:0004698	Function	Calcium,diacylglycerol-dependent serine/threonine kinase activity	IDA	23115168
GO:0004698	Function	Calcium,diacylglycerol-dependent serine/threonine kinase activity	IEA
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	IDA	22797923
GO:0005515	Function	Protein binding	IPI	22939624, 28514442, 31980649, 32707033, 32814053, 33961781, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005911	Component	Cell-cell junction	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	23115168
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007635	Process	Chemosensory behavior	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	15808853
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0032095	Process	Regulation of response to food	IEA
GO:0032095	Process	Regulation of response to food	ISS
GO:0032425	Process	Positive regulation of mismatch repair	IDA	15808853
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	15808853
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043278	Process	Response to morphine	IEA
GO:0043278	Process	Response to morphine	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0044305	Component	Calyx of Held	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048265	Process	Response to pain	IEA
GO:0048265	Process	Response to pain	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048511	Process	Rhythmic process	IEA
GO:0050764	Process	Regulation of phagocytosis	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060384	Process	Innervation	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	TAS	23115168
GO:0099538	Process	Synaptic signaling via neuropeptide	IDA	24357660
GO:0099538	Process	Synaptic signaling via neuropeptide	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1901799	Process	Negative regulation of proteasomal protein catabolic process	IEA
GO:1901799	Process	Negative regulation of proteasomal protein catabolic process	ISS
GO:1990776	Process	Response to angiotensin	IEA
GO:1990911	Process	Response to psychosocial stress	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

MIM	HGNC	e!Ensembl
176980	9402	ENSG00000126583

Protein

UniProt ID

P05129

Protein name

Protein kinase C gamma type (PKC-gamma) (EC 2.7.11.13)

Protein function

Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation

PDB

2E73 , 2UZP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00130	C1_1	36 → 88	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00130	C1_1	101 → 153	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00168	C2	171 → 277	C2 domain	Domain
PF00069	Pkinase	351 → 613	Protein kinase domain	Domain
PF00433	Pkinase_C	639 → 675	Protein kinase C terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in Purkinje cells of the cerebellar cortex. {ECO:0000269|PubMed:12644968}.

Sequence

MAGLGPGVGDSEGGPRPLFCRKGALRQKVVHEVKSHKFTARFFKQPTFCSHCTDFIWGIG
KQGLQCQVCSFVVHRRCHEFVTFECPGAGKGPQTDDPRNKHKFRLHSYSSPTFCDHCGSL
LYGLVHQGMKCSCCEMNVHRRCVRSVPSLCGVDHTERRGRLQLEIRAPTADEIHVTVGEA
RNLIPMDPNGLSDPYVKLKLIPDPRNLTKQKTRTVKATLNPVWNETFVFNLKPGDVERRL
SVEVWDWDRTSRNDFMGAMSFGVSELLKAPVDGWYKLLNQEEGEYYNVPVADADNCSLLQ
KFEACNYPLELYERVRMGPSSSPIPSPSPSPTDPKRCFFGASPGRLHISDFSFLMVLGKG
SFGKVMLAERRGSDELYAIKILKKDVIVQDDDVDCTLVEKRVLALGGRGPGGRPHFLTQL
HSTFQTPDRLYFVMEYVTGGDLMYHIQQLGKFKEPHAAFYAAEIAIGLFFLHNQGIIYRD
LKLDNVMLDAEGHIKITDFGMCKENVFPGTTTRTFCGTPDYIAPEIIAYQPYGKSVDWWS
FGVLLYEMLAGQPPFDGEDEEELFQAIMEQTVTYPKSLSREAVAICKGFLTKHPGKRLGS
GPDGEPTIRAHGFFRWIDWERLERLEIPPPFRPRPCGRSGENFDKFFTRAAPALTPPDRL
VLASIDQADFQGFTYVNPDFVHPDARSPTSPVPVPVM

Sequence length

697

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Spinocerebellar Ataxia	spinocerebellar ataxia type 14	rs121918513, rs386134160, rs1555806333, rs121918514, rs386134161, rs1599943097, rs121918515, rs386134162, rs121918516, rs386134163, rs121918517, rs386134164, rs121918518, rs386134165, rs1555808841 View all (11 more)	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
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.
Cerebellar Ataxia	Autosomal dominant cerebellar ataxia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Altitude Sickness	Associate	36803152
Ataxia	Associate	22675081, 24030952, 29603387, 32338350, 33739604, 34292398
Breast Neoplasms	Associate	33962648
Calcinosis Cutis	Associate	25252845
Carcinogenesis	Associate	37773536
Carcinoma Hepatocellular	Associate	36672978
Carcinoma Non Small Cell Lung	Associate	16801349
Carcinoma Renal Cell	Associate	20459627
Cerebellar Ataxia	Associate	12644968, 22675081, 29603387, 37101238, 38072404
Cerebellar Diseases	Associate	33739604
Cognition Disorders	Associate	29603387, 33739604
Colorectal Neoplasms	Associate	20188713
Developmental Disabilities	Associate	33739604
Dystonia	Associate	29603387, 33739604
Episodic Ataxia	Associate	34292398
Fractures Spontaneous	Associate	32338350
Frontotemporal Lobar Degeneration	Associate	20886841
Glioblastoma	Associate	29393370
Glioma	Associate	32539851
Graves Ophthalmopathy	Associate	36056316
Hypoxia Brain	Associate	36803152
Infarction	Associate	9583183
Inflammation	Associate	32986378
Ischemia	Stimulate	9583183
Kidney Diseases	Associate	37773536
Myoclonus	Associate	29603387
Nasopharyngeal Carcinoma	Associate	32986378
Nasopharyngitis	Associate	32986378
Neoplasms	Associate	24117238, 25663494, 26388441, 36672978, 37474004, 37773536, 8434650
Neurodegenerative Diseases	Associate	30249303, 37551632
Neurologic Manifestations	Associate	12644968
Optic Neuropathy Ischemic	Stimulate	9583183
Osteosarcoma	Associate	25252845, 25663494
Ovarian Neoplasms	Associate	36672978
Pallidopyramidal syndrome	Associate	29603387
Pancreatic Neoplasms	Associate	20581473
Paraneoplastic Cerebellar Degeneration	Associate	16801349
Paraparesis Spastic	Associate	34292398
Peripheral Nervous System Diseases	Associate	29603387
Pierre Robin Syndrome	Stimulate	34445196
Severe Acute Respiratory Syndrome	Stimulate	36803152
Spinocerebellar Ataxia 11	Associate	32338350, 33739604, 37301203
Spinocerebellar ataxia 14	Associate	16291902, 29603387, 30249303, 32338350, 33739604, 34292398, 37101238, 38072404
Spinocerebellar Ataxias	Associate	12644968, 37551632
Spinocerebellar Degenerations	Associate	12644968, 24030952, 34445196
Stomach Neoplasms	Associate	12046066
White Dot Syndromes	Associate	32338350

PRKCG (protein kinase C gamma)