PRKCD (protein kinase C delta)

Gene

• Entrez ID: 5580
• Gene name: Protein kinase C delta
• Gene symbol: PRKCD
• Synonyms: ALPS3, CVID9, MAY1, PKCD, nPKC-delta
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progres

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs33911937	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs398122958	G>A	Pathogenic	Splice donor variant
rs606231296	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs606231297	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1295207359	A>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041814	hsa-miR-484	CLASH	23622248
MIRT039609	hsa-miR-615-3p	CLASH	23622248
MIRT039609	hsa-miR-615-3p	CLASH	23622248
MIRT053097	hsa-miR-26a-5p	Luciferase reporter assay, Western blot	23525216
MIRT163342	hsa-miR-181a-5p	Luciferase reporter assay	24183997
MIRT163342	hsa-miR-181a-5p	Luciferase reporter assay	24183997
MIRT163342	hsa-miR-181a-5p	Luciferase reporter assay	24183997
MIRT163342	hsa-miR-181a-5p	Luciferase reporter assay	24183997
MIRT163378	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT163346	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT613705	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT163378	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT613708	hsa-miR-4268	HITS-CLIP	23824327
MIRT613707	hsa-miR-4448	HITS-CLIP	23824327
MIRT163346	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT613706	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT613705	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT163363	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT163384	hsa-miR-6856-3p	PAR-CLIP	21572407
MIRT163348	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT163380	hsa-miR-5692b	PAR-CLIP	21572407
MIRT163379	hsa-miR-5692c	PAR-CLIP	21572407
MIRT163350	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT163378	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515489	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT515488	hsa-miR-4796-5p	PAR-CLIP	21572407
MIRT163349	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT163358	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT163346	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163369	hsa-miR-3924	PAR-CLIP	21572407
MIRT163363	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT163348	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT163380	hsa-miR-5692b	PAR-CLIP	23446348
MIRT163379	hsa-miR-5692c	PAR-CLIP	23446348
MIRT163350	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT163378	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515489	hsa-miR-654-3p	PAR-CLIP	23446348
MIRT515488	hsa-miR-4796-5p	PAR-CLIP	23446348
MIRT163349	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT163358	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT163346	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT163369	hsa-miR-3924	PAR-CLIP	23446348
MIRT163362	hsa-miR-1305	PAR-CLIP	23446348
MIRT163253	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT163257	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT163254	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT163261	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT163342	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT163343	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT163344	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT163351	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT053097	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT163340	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT163342	hsa-miR-181a-5p	qRT-PCR, Luciferase reporter assay, Western blot	25174404
MIRT163342	hsa-miR-181a-5p	qRT-PCR, Luciferase reporter assay, Western blot	25174404
MIRT163344	hsa-miR-181c-5p	Luciferase reporter assay	26629004
MIRT163344	hsa-miR-181c-5p	Luciferase reporter assay	26629004
MIRT053097	hsa-miR-26a-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, ELISA	31907356
MIRT163340	hsa-miR-26b-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, ELISA	31907356
MIRT163378	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT163346	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT613705	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT163378	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT613708	hsa-miR-4268	HITS-CLIP	23824327
MIRT613707	hsa-miR-4448	HITS-CLIP	23824327
MIRT163346	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT613706	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT613705	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT163363	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT163384	hsa-miR-6856-3p	PAR-CLIP	21572407
MIRT163348	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT163380	hsa-miR-5692b	PAR-CLIP	21572407
MIRT163379	hsa-miR-5692c	PAR-CLIP	21572407
MIRT163350	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT163378	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515489	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT515488	hsa-miR-4796-5p	PAR-CLIP	21572407
MIRT163349	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT163358	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT163346	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163369	hsa-miR-3924	PAR-CLIP	21572407
MIRT163363	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT163348	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT163380	hsa-miR-5692b	PAR-CLIP	23446348
MIRT163379	hsa-miR-5692c	PAR-CLIP	23446348
MIRT163350	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT163378	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515489	hsa-miR-654-3p	PAR-CLIP	23446348
MIRT515488	hsa-miR-4796-5p	PAR-CLIP	23446348
MIRT163349	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT163358	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT163346	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT163369	hsa-miR-3924	PAR-CLIP	23446348
MIRT163362	hsa-miR-1305	PAR-CLIP	23446348
MIRT1263054	hsa-miR-1207-5p	CLIP-seq
MIRT1263055	hsa-miR-1293	CLIP-seq
MIRT1263056	hsa-miR-3616-3p	CLIP-seq
MIRT1263057	hsa-miR-3665	CLIP-seq
MIRT1263058	hsa-miR-3934	CLIP-seq
MIRT1263059	hsa-miR-4436b-3p	CLIP-seq
MIRT1263060	hsa-miR-4483	CLIP-seq
MIRT1263061	hsa-miR-4763-3p	CLIP-seq
MIRT1263062	hsa-miR-1297	CLIP-seq
MIRT1263063	hsa-miR-181a	CLIP-seq
MIRT1263064	hsa-miR-181b	CLIP-seq
MIRT1263065	hsa-miR-181c	CLIP-seq
MIRT1263066	hsa-miR-181d	CLIP-seq
MIRT1263067	hsa-miR-26a	CLIP-seq
MIRT1263068	hsa-miR-26b	CLIP-seq
MIRT1263069	hsa-miR-4262	CLIP-seq
MIRT1263070	hsa-miR-4465	CLIP-seq
MIRT1263071	hsa-miR-494	CLIP-seq
MIRT1263072	hsa-miR-606	CLIP-seq
MIRT2077439	hsa-miR-374a	CLIP-seq
MIRT2077440	hsa-miR-374b	CLIP-seq
MIRT2077441	hsa-miR-3942-5p	CLIP-seq
MIRT2077442	hsa-miR-410	CLIP-seq
MIRT2077443	hsa-miR-4684-5p	CLIP-seq
MIRT2077444	hsa-miR-4703-5p	CLIP-seq
MIRT2077445	hsa-miR-4719	CLIP-seq
MIRT2077446	hsa-miR-4768-5p	CLIP-seq
MIRT2077447	hsa-miR-490-3p	CLIP-seq
MIRT2303976	hsa-miR-1226	CLIP-seq
MIRT1263055	hsa-miR-1293	CLIP-seq
MIRT2303977	hsa-miR-140-3p	CLIP-seq
MIRT2303978	hsa-miR-15a	CLIP-seq
MIRT2303979	hsa-miR-15b	CLIP-seq
MIRT2303980	hsa-miR-16	CLIP-seq
MIRT2303981	hsa-miR-1908	CLIP-seq
MIRT2303982	hsa-miR-195	CLIP-seq
MIRT2303983	hsa-miR-197	CLIP-seq
MIRT2303984	hsa-miR-224	CLIP-seq
MIRT2303985	hsa-miR-27a	CLIP-seq
MIRT2303986	hsa-miR-27b	CLIP-seq
MIRT2303987	hsa-miR-298	CLIP-seq
MIRT2303988	hsa-miR-3125	CLIP-seq
MIRT2303989	hsa-miR-3150a-3p	CLIP-seq
MIRT2303990	hsa-miR-3156-3p	CLIP-seq
MIRT2303991	hsa-miR-3175	CLIP-seq
MIRT2303992	hsa-miR-3180	CLIP-seq
MIRT2303993	hsa-miR-3180-3p	CLIP-seq
MIRT2303994	hsa-miR-3196	CLIP-seq
MIRT2303995	hsa-miR-361-3p	CLIP-seq
MIRT1263057	hsa-miR-3665	CLIP-seq
MIRT2303996	hsa-miR-3677-3p	CLIP-seq
MIRT2303997	hsa-miR-377	CLIP-seq
MIRT2303998	hsa-miR-3907	CLIP-seq
MIRT2303999	hsa-miR-3916	CLIP-seq
MIRT1263058	hsa-miR-3934	CLIP-seq
MIRT2304000	hsa-miR-3940-3p	CLIP-seq
MIRT2077441	hsa-miR-3942-5p	CLIP-seq
MIRT2304001	hsa-miR-424	CLIP-seq
MIRT2304002	hsa-miR-4301	CLIP-seq
MIRT1263060	hsa-miR-4483	CLIP-seq
MIRT2304003	hsa-miR-4530	CLIP-seq
MIRT2304004	hsa-miR-4640-5p	CLIP-seq
MIRT2077443	hsa-miR-4684-5p	CLIP-seq
MIRT2077444	hsa-miR-4703-5p	CLIP-seq
MIRT2304005	hsa-miR-4712-3p	CLIP-seq
MIRT2304006	hsa-miR-4726-5p	CLIP-seq
MIRT2304007	hsa-miR-4733-3p	CLIP-seq
MIRT2304008	hsa-miR-4736	CLIP-seq
MIRT2077446	hsa-miR-4768-5p	CLIP-seq
MIRT2304009	hsa-miR-491-5p	CLIP-seq
MIRT2304010	hsa-miR-497	CLIP-seq
MIRT2304011	hsa-miR-513a-5p	CLIP-seq
MIRT2304012	hsa-miR-548q	CLIP-seq
MIRT2304013	hsa-miR-663	CLIP-seq
MIRT2304014	hsa-miR-744	CLIP-seq
MIRT2304015	hsa-miR-922	CLIP-seq
MIRT2304016	hsa-miR-939	CLIP-seq
MIRT2303985	hsa-miR-27a	CLIP-seq
MIRT2303986	hsa-miR-27b	CLIP-seq
MIRT2303988	hsa-miR-3125	CLIP-seq
MIRT2303997	hsa-miR-377	CLIP-seq
MIRT2303999	hsa-miR-3916	CLIP-seq
MIRT2304011	hsa-miR-513a-5p	CLIP-seq
MIRT2303985	hsa-miR-27a	CLIP-seq
MIRT2303986	hsa-miR-27b	CLIP-seq
MIRT2303988	hsa-miR-3125	CLIP-seq
MIRT2303997	hsa-miR-377	CLIP-seq
MIRT2303999	hsa-miR-3916	CLIP-seq
MIRT2304000	hsa-miR-3940-3p	CLIP-seq
MIRT2304005	hsa-miR-4712-3p	CLIP-seq
MIRT2304011	hsa-miR-513a-5p	CLIP-seq
MIRT2303985	hsa-miR-27a	CLIP-seq
MIRT2303986	hsa-miR-27b	CLIP-seq
MIRT2303988	hsa-miR-3125	CLIP-seq
MIRT2303997	hsa-miR-377	CLIP-seq
MIRT2303999	hsa-miR-3916	CLIP-seq
MIRT2304000	hsa-miR-3940-3p	CLIP-seq
MIRT2077441	hsa-miR-3942-5p	CLIP-seq
MIRT2077444	hsa-miR-4703-5p	CLIP-seq
MIRT2304005	hsa-miR-4712-3p	CLIP-seq
MIRT2304011	hsa-miR-513a-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0004672	Function	Protein kinase activity	IDA	24008408
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	12391145, 18285462
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	10770950, 18285462, 19059439
GO:0004697	Function	Protein kinase C activity	ISS
GO:0004698	Function	Calcium-dependent protein kinase C activity	IEA
GO:0004699	Function	Calcium-independent protein kinase C activity	TAS	14583092
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	9139733, 10383400, 10948194, 12628935, 12649167, 12721299, 15591124, 16377624, 16611985, 16940418, 22465666, 22528498, 23814099, 24396867, 24996056, 25241761, 26112605, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	15632189, 15774464, 16611985, 18285462
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15632189, 16611985, 18285462
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15774464, 18556656
GO:0005829	Component	Cytosol	IDA	10770950, 15774464, 17303575
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	10770950, 15632189, 17303575
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006468	Process	Protein phosphorylation	IDA	10713049, 12649167, 16611985
GO:0006915	Process	Apoptotic process	IDA	10770950, 12649167
GO:0007049	Process	Cell cycle	IEA
GO:0007165	Process	Signal transduction	TAS	8357834
GO:0008047	Function	Enzyme activator activity	IDA	16611985
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	TAS	24522549
GO:0010469	Process	Regulation of signaling receptor activity	TAS	14583092
GO:0016064	Process	Immunoglobulin mediated immune response	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016572	Process	Histone phosphorylation	IDA	19059439
GO:0018105	Process	Peptidyl-serine phosphorylation	IBA	21873635
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	18285462
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	10770950
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IEA
GO:0019899	Function	Enzyme binding	IDA	18556656
GO:0019899	Function	Enzyme binding	IPI	16611985, 19059439
GO:0019900	Function	Kinase binding	IPI	19059439
GO:0019901	Function	Protein kinase binding	IPI	10713049, 28428613
GO:0023021	Process	Termination of signal transduction	IMP	19279008
GO:0030168	Process	Platelet activation	TAS
GO:0030837	Process	Negative regulation of actin filament polymerization	ISS
GO:0032079	Process	Positive regulation of endodeoxyribonuclease activity	IMP	19059439
GO:0032091	Process	Negative regulation of protein binding	TAS	14583092
GO:0032147	Process	Activation of protein kinase activity	IDA	10713049
GO:0032930	Process	Positive regulation of superoxide anion generation	IMP	19801500
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	22554282
GO:0034351	Process	Negative regulation of glial cell apoptotic process	IMP	15774464
GO:0034644	Process	Cellular response to UV	IDA	17303575
GO:0035307	Process	Positive regulation of protein dephosphorylation	IMP	19279008
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0036019	Component	Endolysosome	IDA	17303575
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042100	Process	B cell proliferation	IEA
GO:0042119	Process	Neutrophil activation	IDA	10770950
GO:0042307	Process	Positive regulation of protein import into nucleus	IMP	19059439
GO:0042742	Process	Defense response to bacterium	ISS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043407	Process	Negative regulation of MAP kinase activity	IMP	19279008
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043560	Function	Insulin receptor substrate binding	ISS
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	ISS
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	TAS	14583092
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IC	19279008
GO:0050732	Process	Negative regulation of peptidyl-tyrosine phosphorylation	ISS	14583092
GO:0050821	Process	Protein stabilization	NAS	16611985
GO:0051490	Process	Negative regulation of filopodium assembly	ISS
GO:0060326	Process	Cell chemotaxis	IMP	24008408
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	10713049
GO:0071447	Process	Cellular response to hydroperoxide	IDA	19059439
GO:0090331	Process	Negative regulation of platelet aggregation	ISS
GO:0090398	Process	Cellular senescence	IMP	15282327
GO:0106310	Function	Protein serine kinase activity	IDA	17303575
GO:1900163	Process	Positive regulation of phospholipid scramblase activity	IMP	10770950
GO:1904385	Process	Cellular response to angiotensin	IDA	18285462
GO:2000303	Process	Regulation of ceramide biosynthetic process	IDA	17303575
GO:2000304	Process	Positive regulation of ceramide biosynthetic process	IMP	19279011
GO:2000753	Process	Positive regulation of glucosylceramide catabolic process	IMP	19279011
GO:2000755	Process	Positive regulation of sphingomyelin catabolic process	IMP	19279011
GO:2001022	Process	Positive regulation of response to DNA damage stimulus	IMP	17938203
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 176977
• HGNC: 9399
• e!Ensembl: ENSG00000163932

Protein

• UniProt ID: Q05655
• Protein name: Protein kinase C delta type (EC 2.7.11.13) (Tyrosine-protein kinase PRKCD) (EC 2.7.10.2) (nPKC-delta) [Cleaved into: Protein kinase C delta type regulatory subunit; Protein kinase C delta type catalytic subunit (Sphingosine-dependent protein kinase-1) (SD
• Protein function: Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but
• PDB: 1YRK, 2YUU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00130	C1_1	159 → 211	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00130	C1_1	231 → 283	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00069	Pkinase	349 → 603	Protein kinase domain	Domain
  PF00433	Pkinase_C	624 → 665	Protein kinase C terminal domain	Family

• Sequence:

  MAPFLRIAFNSYELGSLQAEDEANQPFCAVKMKEALSTERGKTLVQKKPTMYPEWKSTFD
  AHIYEGRVIQIVLMRAAEEPVSEVTVGVSVLAERCKKNNGKAEFWLDLQPQAKVLMSVQY
  FLEDVDCKQSMRSEDEAKFPTMNRRGAIKQAKIHYIKNHEFIATFFGQPTFCSVCKDFVW
  GLNKQGYKCRQCNAAIHKKCIDKIIGRCTGTAANSRDTIFQKERFNIDMPHRFKVHNYMS
  PTFCDHCGSLLWGLVKQGLKCEDCGMNVHHKCREKVANLCGINQKLLAEALNQVTQRASR
  RSDSASSEPVGIYQGFEKKTGVAGEDMQDNSGTYGKIWEGSSKCNINNFIFHKVLGKGSF
  GKVLLGELKGRGEYFAIKALKKDVVLIDDDVECTMVEKRVLTLAAENPFLTHLICTFQTK
  DHLFFVMEFLNGGDLMYHIQDKGRFELYRATFYAAEIMCGLQFLHSKGIIYRDLKLDNVL
  LDRDGHIKIADFGMCKENIFGESRASTFCGTPDYIAPEILQGLKYTFSVDWWSFGVLLYE
  MLIGQSPFHGDDEDELFESIRVDTPHYPRWITKESKDILEKLFEREPTKRLGVTGNIKIH
  PFFKTINWTLLEKRRLEPPFRPKVKSPRDYSNFDQEFLNEKARLSYSDKNLIDSMDQSAF
  AGFSFVNPKFEHLLED

• Sequence length: 676

Pathways

KEGG:

Chemokine signaling pathway
Autophagy - animal
Vascular smooth muscle contraction
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Fc gamma R-mediated phagocytosis
Neurotrophin signaling pathway
Inflammatory mediator regulation of TRP channels
GnRH signaling pathway
Estrogen signaling pathway
Type II diabetes mellitus
Insulin resistance
AGE-RAGE signaling pathway in diabetic complications
Prion disease
Shigellosis
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Apoptotic cleavage of cellular proteins
Calmodulin induced events
Effects of PIP2 hydrolysis
SHC1 events in ERBB2 signaling
DAG and IP3 signaling
Role of phospholipids in phagocytosis
HuR (ELAVL1) binds and stabilizes mRNA
VEGFR2 mediated cell proliferation
CLEC7A (Dectin-1) signaling
RHO GTPases Activate NADPH Oxidases
Neutrophil degranulation
Interferon gamma signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoimmune lymphoproliferative disorder	Autoimmune Lymphoproliferative Syndrome, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III	rs17860424, rs112445441, rs121913529, rs121434596, rs80358236, rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365, rs121913085, rs606231366, rs121913086, rs121913237, rs121913535, rs398122958, rs606231296, rs886039524, rs121913527, rs1554851718, rs1295207359, rs1564699214, rs1564686301, rs1564696849, rs1564691414, rs747862347, rs1589482683, rs1589488463, rs1589488640, rs1589488494, rs1589465172, rs1589478691, rs1589485636, rs778993919, rs1842954041, rs1848315820, rs1207744817, rs1848558128, rs1848671126, rs1848675068, rs1848019699	23430113
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684
Carcinoma	Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259
Common variable immunodeficiency	Common Variable Immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	23319571
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331
Glomerulonephritis	Glomerulonephritis	rs778043831
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hypertension	Hypertensive disease	rs13306026, rs13333226	23973649
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	15681813
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Renal insufficiency	Renal Insufficiency	rs1596536873
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	25895139
Systemic lupus erythematosus	SYSTEMIC LUPUS ERYTHEMATOSUS 16, Autosomal systemic lupus erythematosus	rs77571059, rs10954213, rs2070197, rs72556554, rs3219018, rs121912990, rs1575496354, rs7574865, rs1307379746, rs758750492, rs1575497576	23712425
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Aphthous ulcer	Recurrent aphthous ulcer
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
B-cell lymphoma	B-Cell Lymphomas
Brachycephaly	Brachycephaly
Bronchitis	Recurrent bronchitis
Clonic seizures	Clonic Seizures		25895139
Colitis	Colitis
Coombs positive hemolytic anemia	Coombs positive hemolytic anemia
Eosinophilia	Eosinophilia
Fibroadenoma of breast	Fibroadenoma of breast
Gastritis	Gastritis
Hodgkin disease	Hodgkin Disease
Hypersplenism	Hypersplenism
Hypotonic seizures	Epileptic drop attack		25895139
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Imperforate anus	Anus, Imperforate
Intestinal neoplasms	Intestinal Neoplasms		11983831
Intestinal cancer	Intestinal Cancer		11983831
Jacksonian seizure	Jacksonian Seizure		25895139
Liver carcinoma	Liver carcinoma
Lupus erythematosus	Lupus Erythematosus, Systemic
Lymphocytosis	Lymphocytosis
Lymphopenia	Lymphopenia
Membranous glomerulonephritis	Membranous glomerulonephritis
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		29341352
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Panniculitis	Panniculitis
Parkinsonian disease	Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile		15681813
Premature menopause	Premature Menopause
Ramsay hunt paralysis syndrome	Ramsay Hunt Paralysis Syndrome		15681813
T-cell lymphoma	T-Cell Lymphoma
Thyroid carcinoma	Thyroid carcinoma
Thyroid gland follicular adenoma	Thyroid Gland Follicular Adenoma
Thyroiditis	Thyroiditis
Tongue neoplasms	Tongue Neoplasms
Urticaria	Urticaria
Uveitis	Uveitis