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	8525
Gene name	Diacylglycerol kinase zeta
Gene symbol	DGKZ
Synonyms (NCBI Gene)	DAGK5DAGK6DGK-ZETAhDGKzeta
Chromosome	11
Chromosome location	11p11.2
Summary	The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs770590945	->C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant

Show/Hide all (65)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029622	hsa-miR-26b-5p	Microarray	19088304
MIRT043439	hsa-miR-331-3p	CLASH	23622248
MIRT440823	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440823	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT934293	hsa-miR-1203	CLIP-seq
MIRT934294	hsa-miR-1470	CLIP-seq
MIRT934295	hsa-miR-1976	CLIP-seq
MIRT934296	hsa-miR-3656	CLIP-seq
MIRT934297	hsa-miR-370	CLIP-seq
MIRT934298	hsa-miR-4480	CLIP-seq
MIRT934299	hsa-miR-4646-3p	CLIP-seq
MIRT934300	hsa-miR-4667-3p	CLIP-seq
MIRT934301	hsa-miR-4728-5p	CLIP-seq
MIRT934302	hsa-miR-1	CLIP-seq
MIRT934293	hsa-miR-1203	CLIP-seq
MIRT934303	hsa-miR-1228	CLIP-seq
MIRT934304	hsa-miR-1294	CLIP-seq
MIRT934305	hsa-miR-206	CLIP-seq
MIRT934306	hsa-miR-30a	CLIP-seq
MIRT934307	hsa-miR-30b	CLIP-seq
MIRT934308	hsa-miR-30c	CLIP-seq
MIRT934309	hsa-miR-30d	CLIP-seq
MIRT934310	hsa-miR-30e	CLIP-seq
MIRT934311	hsa-miR-3156-3p	CLIP-seq
MIRT934312	hsa-miR-34a	CLIP-seq
MIRT934313	hsa-miR-34c-5p	CLIP-seq
MIRT934314	hsa-miR-3607-3p	CLIP-seq
MIRT934296	hsa-miR-3656	CLIP-seq
MIRT934315	hsa-miR-3673	CLIP-seq
MIRT934316	hsa-miR-3688-5p	CLIP-seq
MIRT934317	hsa-miR-4301	CLIP-seq
MIRT934318	hsa-miR-4476	CLIP-seq
MIRT934298	hsa-miR-4480	CLIP-seq
MIRT934319	hsa-miR-449a	CLIP-seq
MIRT934320	hsa-miR-449b	CLIP-seq
MIRT934321	hsa-miR-4693-3p	CLIP-seq
MIRT934301	hsa-miR-4728-5p	CLIP-seq
MIRT934322	hsa-miR-524-3p	CLIP-seq
MIRT934323	hsa-miR-525-3p	CLIP-seq
MIRT934324	hsa-miR-541	CLIP-seq
MIRT934325	hsa-miR-613	CLIP-seq
MIRT934326	hsa-miR-654-5p	CLIP-seq
MIRT934293	hsa-miR-1203	CLIP-seq
MIRT934304	hsa-miR-1294	CLIP-seq
MIRT934312	hsa-miR-34a	CLIP-seq
MIRT934313	hsa-miR-34c-5p	CLIP-seq
MIRT1976588	hsa-miR-361-3p	CLIP-seq
MIRT934296	hsa-miR-3656	CLIP-seq
MIRT934316	hsa-miR-3688-5p	CLIP-seq
MIRT1976589	hsa-miR-4436b-5p	CLIP-seq
MIRT934318	hsa-miR-4476	CLIP-seq
MIRT934298	hsa-miR-4480	CLIP-seq
MIRT934319	hsa-miR-449a	CLIP-seq
MIRT934320	hsa-miR-449b	CLIP-seq
MIRT1976590	hsa-miR-4668-3p	CLIP-seq
MIRT934301	hsa-miR-4728-5p	CLIP-seq
MIRT934324	hsa-miR-541	CLIP-seq
MIRT1976591	hsa-miR-548c-3p	CLIP-seq
MIRT934326	hsa-miR-654-5p	CLIP-seq
MIRT934293	hsa-miR-1203	CLIP-seq
MIRT1976588	hsa-miR-361-3p	CLIP-seq
MIRT934296	hsa-miR-3656	CLIP-seq
MIRT2386878	hsa-miR-4258	CLIP-seq
MIRT934298	hsa-miR-4480	CLIP-seq
MIRT934301	hsa-miR-4728-5p	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001727	Function	Lipid kinase activity	IDA	16286473
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IBA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IDA	15544348, 16286473, 18004883, 19744926, 22627129
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IEA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	15157668, 16286473, 17664281
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	8626588
GO:0005634	Component	Nucleus	IDA	15157668, 17664281
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	11309392
GO:0005829	Component	Cytosol	IDA	22627129
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IBA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IDA	15544348, 19744926
GO:0006654	Process	Phosphatidic acid biosynthetic process	ISS
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS	15157668
GO:0007165	Process	Signal transduction	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IDA	18004883
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	NAS	15157668
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0030027	Component	Lamellipodium	IDA	15157668
GO:0030027	Component	Lamellipodium	IEA
GO:0030168	Process	Platelet activation	IEA
GO:0030168	Process	Platelet activation	TAS
GO:0031571	Process	Mitotic G1 DNA damage checkpoint signaling	IGI	16286473
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0042995	Component	Cell projection	IEA
GO:0046339	Process	Diacylglycerol metabolic process	IBA
GO:0046339	Process	Diacylglycerol metabolic process	IDA	15544348, 19744926, 22627129
GO:0046486	Process	Glycerolipid metabolic process	IDA	22627129
GO:0046486	Process	Glycerolipid metabolic process	IEA
GO:0046834	Process	Lipid phosphorylation	IDA	15544348, 18004883, 19744926, 22627129
GO:0046834	Process	Lipid phosphorylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047649	Function	Alkylglycerol kinase activity	IEA
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	ISS
GO:0098978	Component	Glutamatergic synapse	IBA

MIM	HGNC	e!Ensembl
601441	2857	ENSG00000149091

Q13574

Protein name

Diacylglycerol kinase zeta (DAG kinase zeta) (EC 2.7.1.107) (EC 2.7.1.93) (Diglyceride kinase zeta) (DGK-zeta)

Protein function

Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed:18004883, PubMed:19744926, PubMed:22108654, PubMed:22627129

PDB

5ELQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00130	C1_1	361 → 420	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00781	DAGK_cat	484 → 605	Diacylglycerol kinase catalytic domain	Family
PF00609	DAGK_acc	635 → 792	Diacylglycerol kinase accessory domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highest levels in brain, and substantial levels in skeletal muscle, heart, and pancreas. {ECO:0000269|PubMed:8626588}.; TISSUE SPECIFICITY: [Isoform 2]: Predominantly expressed in muscle. {ECO:0000269|PubMed:9159104}.

Sequence

MEPRDGSPEARSSDSESASASSSGSERDAGPEPDKAPRRLNKRRFPGLRLFGHRKAITKS
GLQHLAPPPPTPGAPCSESERQIRSTVDWSESATYGEHIWFETNVSGDFCYVGEQYCVAR
MLKSVSRRKCAACKIVVHTPCIEQLEKINFRCKPSFRESGSRNVREPTFVRHHWVHRRRQ
DGKCRHCGKGFQQKFTFHSKEIVAISCSWCKQAYHSKVSCFMLQQIEEPCSLGVHAAVVI
PPTWILRARRPQNTLKASKKKKRASFKRKSSKKGPEEGRWRPFIIRPTPSPLMKPLLVFV
NPKSGGNQGAKIIQSFLWYLNPRQVFDLSQGGPKEALEMYRKVHNLRILACGGDGTVGWI
LSTLDQLRLKPPPPVAILPLGTGNDLARTLNWGGGYTDEPVSKILSHVEEGNVVQLDRWD
LHAEPNPEAGPEDRDEGATDRLPLDVFNNYFSLGFDAHVTLEFHESREANPEKFNSRFRN
KMFYAGTAFSDFLMGSSKDLAKHIRVVCDGMDLTPKIQDLKPQCVVFLNIPRYCAGTMPW
GHPGEHHDFEPQRHDDGYLEVIGFTMTSLAALQVGGHGERLTQCREVVLTTSKAIPVQVD
GEPCKLAASRIRIALRNQATMVQKAKRRSAAPLHSDQQPVPEQLRIQVSRVSMHDYEALH
YDKEQLKEASVPLGTVVVPGDSDLELCRAHIERLQQEPDGAGAKSPTCQKLSPKWCFLDA
TTASRFYRIDRAQEHLNYVTEIAQDEIYILDPELLGASARPDLPTPTSPLPTSPCSPTPR
SLQGDAAPPQGEELIEAAKRNDFCKLQELHRAGGDLMHRDEQSRTLLHHAVSTGSKDVVR
YLLDHAPPEILDAVEENGETCLHQAAALGQRTICHYIVEAGASLMKTDQQGDTPRQRAEK
AQDTELAAYLENRQHYQMIQREDQETAV

Sequence length

928

Interactions

View interactions

	KEGG		Reactome
	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways Phosphatidylinositol signaling system Phospholipase D signaling pathway Choline metabolism in cancer		Effects of PIP2 hydrolysis

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
atypical cerebral palsy	Pathogenic	rs770590945	RCV000655961	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	24646293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30477734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30477734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	28008152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24646293, 35115500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	37479996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24646293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24646293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37347142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29066466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31523189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31523189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	31801815		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28916658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31288898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28438506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24646293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24646293, 28916658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24646293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	17071729		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	30662872, 31523189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30662872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	28008152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24646293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21747397, 31087244		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 29483656, 31268507		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	37479996	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thromboangiitis Obliterans	Thromboangiitis obliterans	Pubtator	38275601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35115500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DGKZ (diacylglycerol kinase zeta)