DGKD (diacylglycerol kinase delta)

Gene

• Entrez ID: 8527
• Gene name: Diacylglycerol kinase delta
• Gene symbol: DGKD
• Synonyms (NCBI Gene): DGK-delta, DGKdelta, dgkd-2
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147134923	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019754	hsa-miR-375	Microarray	20215506
MIRT044251	hsa-miR-106b-5p	CLASH	23622248
MIRT037279	hsa-miR-877-5p	CLASH	23622248
MIRT621054	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT621053	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT621052	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT621051	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT621050	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT621049	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT621048	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT621047	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT621046	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT440824	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT440824	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT621054	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT621053	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT621052	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT621051	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT621050	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT621049	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT621048	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT621047	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT621046	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT933876	hsa-miR-103a	CLIP-seq
MIRT933877	hsa-miR-107	CLIP-seq
MIRT933878	hsa-miR-1184	CLIP-seq
MIRT933879	hsa-miR-1205	CLIP-seq
MIRT933880	hsa-miR-1207-3p	CLIP-seq
MIRT933881	hsa-miR-1207-5p	CLIP-seq
MIRT933882	hsa-miR-1224-3p	CLIP-seq
MIRT933883	hsa-miR-1236	CLIP-seq
MIRT933884	hsa-miR-1253	CLIP-seq
MIRT933885	hsa-miR-1301	CLIP-seq
MIRT933886	hsa-miR-1825	CLIP-seq
MIRT933887	hsa-miR-1909	CLIP-seq
MIRT933888	hsa-miR-1913	CLIP-seq
MIRT933889	hsa-miR-1915	CLIP-seq
MIRT933890	hsa-miR-2467-3p	CLIP-seq
MIRT933891	hsa-miR-29a	CLIP-seq
MIRT933892	hsa-miR-29b	CLIP-seq
MIRT933893	hsa-miR-29c	CLIP-seq
MIRT933894	hsa-miR-3065-5p	CLIP-seq
MIRT933895	hsa-miR-31	CLIP-seq
MIRT933896	hsa-miR-3120-3p	CLIP-seq
MIRT933897	hsa-miR-3128	CLIP-seq
MIRT933898	hsa-miR-3153	CLIP-seq
MIRT933899	hsa-miR-3154	CLIP-seq
MIRT933900	hsa-miR-3158-5p	CLIP-seq
MIRT933901	hsa-miR-3179	CLIP-seq
MIRT933902	hsa-miR-3180	CLIP-seq
MIRT933903	hsa-miR-3180-3p	CLIP-seq
MIRT933904	hsa-miR-3184	CLIP-seq
MIRT933905	hsa-miR-3196	CLIP-seq
MIRT933906	hsa-miR-324-3p	CLIP-seq
MIRT933907	hsa-miR-3678-3p	CLIP-seq
MIRT933908	hsa-miR-3689d	CLIP-seq
MIRT933909	hsa-miR-3918	CLIP-seq
MIRT933910	hsa-miR-3924	CLIP-seq
MIRT933911	hsa-miR-412	CLIP-seq
MIRT933912	hsa-miR-423-5p	CLIP-seq
MIRT933913	hsa-miR-4261	CLIP-seq
MIRT933914	hsa-miR-4283	CLIP-seq
MIRT933915	hsa-miR-4418	CLIP-seq
MIRT933916	hsa-miR-4420	CLIP-seq
MIRT933917	hsa-miR-4459	CLIP-seq
MIRT933918	hsa-miR-4463	CLIP-seq
MIRT933919	hsa-miR-4488	CLIP-seq
MIRT933920	hsa-miR-4512	CLIP-seq
MIRT933921	hsa-miR-4640-5p	CLIP-seq
MIRT933922	hsa-miR-4646-5p	CLIP-seq
MIRT933923	hsa-miR-4660	CLIP-seq
MIRT933924	hsa-miR-4668-5p	CLIP-seq
MIRT933925	hsa-miR-4672	CLIP-seq
MIRT933926	hsa-miR-4685-5p	CLIP-seq
MIRT933927	hsa-miR-4695-5p	CLIP-seq
MIRT933928	hsa-miR-4697-5p	CLIP-seq
MIRT933929	hsa-miR-4722-5p	CLIP-seq
MIRT933930	hsa-miR-4726-5p	CLIP-seq
MIRT933931	hsa-miR-4728-5p	CLIP-seq
MIRT933932	hsa-miR-4736	CLIP-seq
MIRT933933	hsa-miR-4763-3p	CLIP-seq
MIRT933934	hsa-miR-4789-5p	CLIP-seq
MIRT933935	hsa-miR-5047	CLIP-seq
MIRT933936	hsa-miR-509-3-5p	CLIP-seq
MIRT933937	hsa-miR-509-5p	CLIP-seq
MIRT933938	hsa-miR-510	CLIP-seq
MIRT933939	hsa-miR-512-3p	CLIP-seq
MIRT933940	hsa-miR-541	CLIP-seq
MIRT933941	hsa-miR-562	CLIP-seq
MIRT933942	hsa-miR-626	CLIP-seq
MIRT933943	hsa-miR-654-5p	CLIP-seq
MIRT933944	hsa-miR-661	CLIP-seq
MIRT933945	hsa-miR-767-5p	CLIP-seq
MIRT933946	hsa-miR-875-3p	CLIP-seq
MIRT933881	hsa-miR-1207-5p	CLIP-seq
MIRT933947	hsa-miR-1245b-5p	CLIP-seq
MIRT933948	hsa-miR-145	CLIP-seq
MIRT933886	hsa-miR-1825	CLIP-seq
MIRT933949	hsa-miR-1827	CLIP-seq
MIRT933888	hsa-miR-1913	CLIP-seq
MIRT933889	hsa-miR-1915	CLIP-seq
MIRT933950	hsa-miR-199a-5p	CLIP-seq
MIRT933951	hsa-miR-199b-5p	CLIP-seq
MIRT933890	hsa-miR-2467-3p	CLIP-seq
MIRT933896	hsa-miR-3120-3p	CLIP-seq
MIRT933952	hsa-miR-3135b	CLIP-seq
MIRT933953	hsa-miR-3141	CLIP-seq
MIRT933954	hsa-miR-3142	CLIP-seq
MIRT933898	hsa-miR-3153	CLIP-seq
MIRT933955	hsa-miR-3160-3p	CLIP-seq
MIRT933904	hsa-miR-3184	CLIP-seq
MIRT933956	hsa-miR-3197	CLIP-seq
MIRT933906	hsa-miR-324-3p	CLIP-seq
MIRT933957	hsa-miR-34b	CLIP-seq
MIRT933909	hsa-miR-3918	CLIP-seq
MIRT933910	hsa-miR-3924	CLIP-seq
MIRT933958	hsa-miR-3929	CLIP-seq
MIRT933959	hsa-miR-3975	CLIP-seq
MIRT933912	hsa-miR-423-5p	CLIP-seq
MIRT933913	hsa-miR-4261	CLIP-seq
MIRT933960	hsa-miR-4273	CLIP-seq
MIRT933914	hsa-miR-4283	CLIP-seq
MIRT933961	hsa-miR-4316	CLIP-seq
MIRT933962	hsa-miR-4419b	CLIP-seq
MIRT933916	hsa-miR-4420	CLIP-seq
MIRT933963	hsa-miR-4434	CLIP-seq
MIRT933964	hsa-miR-4438	CLIP-seq
MIRT933917	hsa-miR-4459	CLIP-seq
MIRT933965	hsa-miR-4478	CLIP-seq
MIRT933966	hsa-miR-4487	CLIP-seq
MIRT933920	hsa-miR-4512	CLIP-seq
MIRT933967	hsa-miR-4516	CLIP-seq
MIRT933968	hsa-miR-4531	CLIP-seq
MIRT933922	hsa-miR-4646-5p	CLIP-seq
MIRT933924	hsa-miR-4668-5p	CLIP-seq
MIRT933925	hsa-miR-4672	CLIP-seq
MIRT933969	hsa-miR-4677-5p	CLIP-seq
MIRT933926	hsa-miR-4685-5p	CLIP-seq
MIRT933927	hsa-miR-4695-5p	CLIP-seq
MIRT933970	hsa-miR-4717-5p	CLIP-seq
MIRT933929	hsa-miR-4722-5p	CLIP-seq
MIRT933931	hsa-miR-4728-5p	CLIP-seq
MIRT933932	hsa-miR-4736	CLIP-seq
MIRT933933	hsa-miR-4763-3p	CLIP-seq
MIRT933934	hsa-miR-4789-5p	CLIP-seq
MIRT933938	hsa-miR-510	CLIP-seq
MIRT933971	hsa-miR-548m	CLIP-seq
MIRT933972	hsa-miR-549	CLIP-seq
MIRT933973	hsa-miR-558	CLIP-seq
MIRT933974	hsa-miR-576-5p	CLIP-seq
MIRT933975	hsa-miR-607	CLIP-seq
MIRT933976	hsa-miR-658	CLIP-seq
MIRT933944	hsa-miR-661	CLIP-seq
MIRT933909	hsa-miR-3918	CLIP-seq
MIRT933952	hsa-miR-3135b	CLIP-seq
MIRT933898	hsa-miR-3153	CLIP-seq
MIRT933955	hsa-miR-3160-3p	CLIP-seq
MIRT1976505	hsa-miR-340	CLIP-seq
MIRT1976506	hsa-miR-3921	CLIP-seq
MIRT1976507	hsa-miR-410	CLIP-seq
MIRT1976508	hsa-miR-4303	CLIP-seq
MIRT933963	hsa-miR-4434	CLIP-seq
MIRT933966	hsa-miR-4487	CLIP-seq
MIRT933967	hsa-miR-4516	CLIP-seq
MIRT1976509	hsa-miR-4522	CLIP-seq
MIRT933968	hsa-miR-4531	CLIP-seq
MIRT933922	hsa-miR-4646-5p	CLIP-seq
MIRT1976510	hsa-miR-4653-5p	CLIP-seq
MIRT933924	hsa-miR-4668-5p	CLIP-seq
MIRT1976511	hsa-miR-4714-5p	CLIP-seq
MIRT1976512	hsa-miR-4758-3p	CLIP-seq
MIRT933973	hsa-miR-558	CLIP-seq
MIRT933884	hsa-miR-1253	CLIP-seq
MIRT933891	hsa-miR-29a	CLIP-seq
MIRT933892	hsa-miR-29b	CLIP-seq
MIRT933893	hsa-miR-29c	CLIP-seq
MIRT933899	hsa-miR-3154	CLIP-seq
MIRT933901	hsa-miR-3179	CLIP-seq
MIRT933945	hsa-miR-767-5p	CLIP-seq
MIRT933891	hsa-miR-29a	CLIP-seq
MIRT933892	hsa-miR-29b	CLIP-seq
MIRT933893	hsa-miR-29c	CLIP-seq
MIRT933913	hsa-miR-4261	CLIP-seq
MIRT933887	hsa-miR-1909	CLIP-seq
MIRT933894	hsa-miR-3065-5p	CLIP-seq
MIRT933925	hsa-miR-4672	CLIP-seq
MIRT2211892	hsa-miR-4711-5p	CLIP-seq
MIRT933934	hsa-miR-4789-5p	CLIP-seq
MIRT2211893	hsa-miR-495	CLIP-seq
MIRT933971	hsa-miR-548m	CLIP-seq
MIRT933971	hsa-miR-548m	CLIP-seq
MIRT933884	hsa-miR-1253	CLIP-seq
MIRT933891	hsa-miR-29a	CLIP-seq
MIRT933892	hsa-miR-29b	CLIP-seq
MIRT933893	hsa-miR-29c	CLIP-seq
MIRT2436804	hsa-miR-3125	CLIP-seq
MIRT2436805	hsa-miR-3916	CLIP-seq
MIRT933941	hsa-miR-562	CLIP-seq
MIRT933945	hsa-miR-767-5p	CLIP-seq
MIRT2448193	hsa-miR-1228	CLIP-seq
MIRT2448194	hsa-miR-1238	CLIP-seq
MIRT2448195	hsa-miR-342-3p	CLIP-seq
MIRT2448196	hsa-miR-371b-3p	CLIP-seq
MIRT933917	hsa-miR-4459	CLIP-seq
MIRT2448197	hsa-miR-4519	CLIP-seq
MIRT2448198	hsa-miR-4691-5p	CLIP-seq
MIRT933927	hsa-miR-4695-5p	CLIP-seq
MIRT2448199	hsa-miR-4733-3p	CLIP-seq
MIRT2448200	hsa-miR-665	CLIP-seq
MIRT2448196	hsa-miR-371b-3p	CLIP-seq
MIRT933917	hsa-miR-4459	CLIP-seq
MIRT2448197	hsa-miR-4519	CLIP-seq
MIRT933927	hsa-miR-4695-5p	CLIP-seq
MIRT2448200	hsa-miR-665	CLIP-seq
MIRT2515656	hsa-miR-125a-3p	CLIP-seq
MIRT933949	hsa-miR-1827	CLIP-seq
MIRT2515657	hsa-miR-3189-5p	CLIP-seq
MIRT1976506	hsa-miR-3921	CLIP-seq
MIRT1976509	hsa-miR-4522	CLIP-seq
MIRT2515658	hsa-miR-455-5p	CLIP-seq
MIRT2515659	hsa-miR-4643	CLIP-seq
MIRT1976510	hsa-miR-4653-5p	CLIP-seq
MIRT1976511	hsa-miR-4714-5p	CLIP-seq
MIRT2515660	hsa-miR-4726-3p	CLIP-seq
MIRT1976512	hsa-miR-4758-3p	CLIP-seq
MIRT2515661	hsa-miR-642b	CLIP-seq
MIRT2515656	hsa-miR-125a-3p	CLIP-seq
MIRT2515657	hsa-miR-3189-5p	CLIP-seq
MIRT1976506	hsa-miR-3921	CLIP-seq
MIRT1976509	hsa-miR-4522	CLIP-seq
MIRT2515658	hsa-miR-455-5p	CLIP-seq
MIRT2515659	hsa-miR-4643	CLIP-seq
MIRT1976510	hsa-miR-4653-5p	CLIP-seq
MIRT1976511	hsa-miR-4714-5p	CLIP-seq
MIRT2515660	hsa-miR-4726-3p	CLIP-seq
MIRT1976512	hsa-miR-4758-3p	CLIP-seq
MIRT2515661	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IBA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IDA	12200442, 17880279, 23949095
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IEA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	TAS	8626538
GO:0005515	Function	Protein binding	IPI	12200442, 17880279
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	TAS	11309392
GO:0005737	Component	Cytoplasm	IDA	12200442
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	12084710
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12084710, 12200442
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IDA	17880279
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IBA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IDA	17880279, 23949095
GO:0006897	Process	Endocytosis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8626538
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019900	Function	Kinase binding	IPI	12810723
GO:0019992	Function	Diacylglycerol binding	NAS	12200442
GO:0030168	Process	Platelet activation	IEA
GO:0030168	Process	Platelet activation	TAS
GO:0031410	Component	Cytoplasmic vesicle	IDA	12200442
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0042802	Function	Identical protein binding	IDA	12084710
GO:0042802	Function	Identical protein binding	IPI	12200442, 18334213
GO:0042803	Function	Protein homodimerization activity	IDA	12200442
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IEA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	ISS
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	TAS	20064931
GO:0046339	Process	Diacylglycerol metabolic process	IBA
GO:0046339	Process	Diacylglycerol metabolic process	IC	12200442
GO:0046339	Process	Diacylglycerol metabolic process	IDA	12200442, 17880279, 23949095
GO:0046340	Process	Diacylglycerol catabolic process	IEA
GO:0046473	Process	Phosphatidic acid metabolic process	IEA
GO:0046486	Process	Glycerolipid metabolic process	IEA
GO:0046834	Process	Lipid phosphorylation	IDA	17880279, 23949095
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	12200442
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0160195	Process	Negative regulation of phospholipase C/protein kinase C signal transduction	IEA
GO:0160195	Process	Negative regulation of phospholipase C/protein kinase C signal transduction	ISS
GO:2000370	Process	Positive regulation of clathrin-dependent endocytosis	IMP	17880279

Other IDs

• MIM: 601826
• HGNC: 2851
• e!Ensembl: ENSG00000077044

Protein

• UniProt ID: Q16760
• Protein name: Diacylglycerol kinase delta (DAG kinase delta) (EC 2.7.1.107) (130 kDa diacylglycerol kinase) (Diglyceride kinase delta) (DGK-delta)
• Protein function: Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:12200442, PubMed:23949095). Thereby, acts as a central switch between the si
• PDB: 1R79, 3BQ7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	54 → 146	PH domain	Domain
  PF00130	C1_1	164 → 216	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00130	C1_1	236 → 289	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00781	DAGK_cat	321 → 443	Diacylglycerol kinase catalytic domain	Family
  PF00609	DAGK_acc	763 → 920	Diacylglycerol kinase accessory domain	Family
  PF07647	SAM_2	1142 → 1206	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 2]: Widely expressed. {ECO:0000269|PubMed:12200442}.; TISSUE SPECIFICITY: [Isoform 1]: Only detected in ovary, and to a lesser extent in spleen. {ECO:0000269|PubMed:12200442}.
• Sequence:

  MAAAAGAPPPGPPQPPPPPPPEESSDSEPEAEPGSPQKLIRKVSTSGQIRQKTIIKEGML
  TKQNNSFQRSKRRYFKLRGRTLYYAKTAKSIIFDEVDLTDASVAESSTKNVNNSFTVITP
  CRKLILCADNRKEMEDWIAALKTVQNREHFEPTQYSMDHFSGMHNWYACSHARPTYCNVC
  REALSGVTSHGLSCEVCKFKAHKRCAVRATNNCKWTTLASIGKDIIEDADGIAMPHQWLE
  GNLPVSAKCTVCDKTCGSVLRLQDWRCLWCKAMVHTSCKESLLTKCPLGLCKVSVIPPTA
  LNSIDSDGFWKASCPPSCTSPLLVFVNSKSGDNQGVKFLRRFKQLLNPAQVFDLMNGGPH
  LGLRLFQKFDTFRILVCGGDGSVGWVLSEIDSLNLHKQCQLGVLPLGTGNDLARVLGWGS
  ACDDDTQLPQILEKLERASTKMLDRWSVMAYEAKLPRQASSSTVTEDFSEDSEVQQILFY
  EDSVAAHLSKILTSDQHSVVISSAKVLCETVKDFVARVGKAYEKTTESSEESEVMAKKCS
  VLKEKLDSLLKTLDDESQASSSLPNPPPTIAEEAEDGDGSGSICGSTGDRLVASACPARP
  QIFRPREQLMLRANSLKKAIRQIIEHTEKAVDEQNAQTQEQEGFVLGLSESEEKMDHRVC
  PPLSHSESFGVPKGRSQRKVSKSPCEKLISKGSLSLGSSASLPPQPGSRDGLPALNTKIL
  YPNVRAGMSGSLPGGSVISRLLINADPFNSEPETLEYYTEKCVMNNYFGIGLDAKISLDF
  NNKRDEHPEKCRSRTKNMMWYGVLGTKELLHRTYKNLEQKVLLECDGRPIPLPSLQGIAV
  LNIPSYAGGTNFWGGTKEDDTFAAPSFDDKILEVVAVFGSMQMAVSRVIRLQHHRIAQCR
  TVKISILGDEGVPVQVDGEAWVQPPGYIRIVHKNRAQTLTRDRAFESTLKSWEDKQKCEL
  PRPPSCSLHPEMLSEEEATQMDQFGQAAGVLIHSIREIAQSHRDMEQELAHAVNASSKSM
  DRVYGKPRTTEGLNCSFVLEMVNNFRALRSETELLLSGKMALQLDPPQKEQLGSALAEMD
  RQLRRLADTPWLCQSAEPGDEESVMLDLAKRSRSGKFRLVTKFKKEKNNKNKEAHSSLGA
  PVHLWGTEEVAAWLEHLSLCEYKDIFTRHDIRGSELLHLERRDLKDLGVTKVGHMKRILC
  GIKELSRSAPAVEA

• Sequence length: 1214

Pathways

KEGG:

Glycerolipid metabolism
Glycerophospholipid metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phospholipase D signaling pathway
Choline metabolism in cancer

Reactome:

Effects of PIP2 hydrolysis

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
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DGKD-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18267070, 29859210		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	30718926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30718926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23209562	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	29891935		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18267070		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	31729369		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23184957		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	31729369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	37107557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	29486157		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22406787		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22406787	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22761715	Associate	★☆☆☆☆ Found in Text Mining only