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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5125
Gene name	Proprotein convertase subtilisin/kexin type 5
Gene symbol	PCSK5
Synonyms (NCBI Gene)	PC5PC6PC6ASPC6
Chromosome	9
Chromosome location	9q21.13
Summary	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein under

244

Show/Hide all (244)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048298	hsa-miR-107	CLASH	23622248
MIRT1218485	hsa-miR-1184	CLIP-seq
MIRT1218486	hsa-miR-1245	CLIP-seq
MIRT1218487	hsa-miR-125a-3p	CLIP-seq
MIRT1218488	hsa-miR-1269	CLIP-seq
MIRT1218489	hsa-miR-1269b	CLIP-seq
MIRT1218490	hsa-miR-1343	CLIP-seq
MIRT1218491	hsa-miR-144	CLIP-seq
MIRT1218492	hsa-miR-186	CLIP-seq
MIRT1218493	hsa-miR-216a	CLIP-seq
MIRT1218494	hsa-miR-3133	CLIP-seq
MIRT1218495	hsa-miR-3148	CLIP-seq
MIRT1218496	hsa-miR-3646	CLIP-seq
MIRT1218497	hsa-miR-3688-3p	CLIP-seq
MIRT1218498	hsa-miR-3690	CLIP-seq
MIRT1218499	hsa-miR-3934	CLIP-seq
MIRT1218500	hsa-miR-4254	CLIP-seq
MIRT1218501	hsa-miR-4282	CLIP-seq
MIRT1218502	hsa-miR-4418	CLIP-seq
MIRT1218503	hsa-miR-451b	CLIP-seq
MIRT1218504	hsa-miR-4529-3p	CLIP-seq
MIRT1218505	hsa-miR-4693-3p	CLIP-seq
MIRT1218506	hsa-miR-4698	CLIP-seq
MIRT1218507	hsa-miR-4712-3p	CLIP-seq
MIRT1218508	hsa-miR-4731-3p	CLIP-seq
MIRT1218509	hsa-miR-4762-5p	CLIP-seq
MIRT1218510	hsa-miR-4763-5p	CLIP-seq
MIRT1218511	hsa-miR-4772-3p	CLIP-seq
MIRT1218512	hsa-miR-4775	CLIP-seq
MIRT1218513	hsa-miR-4801	CLIP-seq
MIRT1218514	hsa-miR-509-3-5p	CLIP-seq
MIRT1218515	hsa-miR-509-5p	CLIP-seq
MIRT1218516	hsa-miR-5096	CLIP-seq
MIRT1218517	hsa-miR-548c-3p	CLIP-seq
MIRT1218518	hsa-miR-548p	CLIP-seq
MIRT1218519	hsa-miR-572	CLIP-seq
MIRT1218520	hsa-miR-579	CLIP-seq
MIRT1218521	hsa-miR-590-3p	CLIP-seq
MIRT1218522	hsa-miR-617	CLIP-seq
MIRT1218523	hsa-miR-720	CLIP-seq
MIRT1218524	hsa-miR-764	CLIP-seq
MIRT1218525	hsa-miR-875-3p	CLIP-seq
MIRT1218526	hsa-miR-935	CLIP-seq
MIRT1552144	hsa-miR-4264	CLIP-seq
MIRT1218510	hsa-miR-4763-5p	CLIP-seq
MIRT1218485	hsa-miR-1184	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2063208	hsa-miR-122	CLIP-seq
MIRT2063209	hsa-miR-1297	CLIP-seq
MIRT2063210	hsa-miR-130a	CLIP-seq
MIRT2063211	hsa-miR-130b	CLIP-seq
MIRT1218492	hsa-miR-186	CLIP-seq
MIRT2063212	hsa-miR-26a	CLIP-seq
MIRT2063213	hsa-miR-26b	CLIP-seq
MIRT2063214	hsa-miR-301a	CLIP-seq
MIRT2063215	hsa-miR-301b	CLIP-seq
MIRT2063216	hsa-miR-3121-3p	CLIP-seq
MIRT1218494	hsa-miR-3133	CLIP-seq
MIRT2063217	hsa-miR-3135b	CLIP-seq
MIRT2063218	hsa-miR-3150a-5p	CLIP-seq
MIRT2063219	hsa-miR-3150b-5p	CLIP-seq
MIRT2063220	hsa-miR-3652	CLIP-seq
MIRT2063221	hsa-miR-3666	CLIP-seq
MIRT2063222	hsa-miR-3909	CLIP-seq
MIRT1218499	hsa-miR-3934	CLIP-seq
MIRT1552144	hsa-miR-4264	CLIP-seq
MIRT2063223	hsa-miR-4295	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT1218502	hsa-miR-4418	CLIP-seq
MIRT2063225	hsa-miR-4430	CLIP-seq
MIRT2063226	hsa-miR-4465	CLIP-seq
MIRT2063227	hsa-miR-454	CLIP-seq
MIRT2063228	hsa-miR-4716-5p	CLIP-seq
MIRT1218510	hsa-miR-4763-5p	CLIP-seq
MIRT1218511	hsa-miR-4772-3p	CLIP-seq
MIRT1218514	hsa-miR-509-3-5p	CLIP-seq
MIRT2063229	hsa-miR-5095	CLIP-seq
MIRT1218515	hsa-miR-509-5p	CLIP-seq
MIRT1218516	hsa-miR-5096	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063231	hsa-miR-548g	CLIP-seq
MIRT2063232	hsa-miR-552	CLIP-seq
MIRT1218519	hsa-miR-572	CLIP-seq
MIRT1218520	hsa-miR-579	CLIP-seq
MIRT2063233	hsa-miR-622	CLIP-seq
MIRT2063234	hsa-miR-767-5p	CLIP-seq
MIRT2291582	hsa-miR-106a	CLIP-seq
MIRT2291583	hsa-miR-106b	CLIP-seq
MIRT1218485	hsa-miR-1184	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2063208	hsa-miR-122	CLIP-seq
MIRT2291584	hsa-miR-1238	CLIP-seq
MIRT1218487	hsa-miR-125a-3p	CLIP-seq
MIRT2291585	hsa-miR-1303	CLIP-seq
MIRT2063210	hsa-miR-130a	CLIP-seq
MIRT2063211	hsa-miR-130b	CLIP-seq
MIRT2291586	hsa-miR-150	CLIP-seq
MIRT2291587	hsa-miR-17	CLIP-seq
MIRT1218492	hsa-miR-186	CLIP-seq
MIRT2291588	hsa-miR-20a	CLIP-seq
MIRT2291589	hsa-miR-20b	CLIP-seq
MIRT2063214	hsa-miR-301a	CLIP-seq
MIRT2063215	hsa-miR-301b	CLIP-seq
MIRT2291590	hsa-miR-302a	CLIP-seq
MIRT2291591	hsa-miR-302b	CLIP-seq
MIRT2291592	hsa-miR-302c	CLIP-seq
MIRT2291593	hsa-miR-302d	CLIP-seq
MIRT2291594	hsa-miR-302e	CLIP-seq
MIRT2291595	hsa-miR-3124-3p	CLIP-seq
MIRT1218494	hsa-miR-3133	CLIP-seq
MIRT2063217	hsa-miR-3135b	CLIP-seq
MIRT2291596	hsa-miR-3159	CLIP-seq
MIRT2291597	hsa-miR-3616-5p	CLIP-seq
MIRT2291598	hsa-miR-3647-5p	CLIP-seq
MIRT2063220	hsa-miR-3652	CLIP-seq
MIRT2063221	hsa-miR-3666	CLIP-seq
MIRT2291599	hsa-miR-372	CLIP-seq
MIRT2291600	hsa-miR-373	CLIP-seq
MIRT2063222	hsa-miR-3909	CLIP-seq
MIRT1218499	hsa-miR-3934	CLIP-seq
MIRT1552144	hsa-miR-4264	CLIP-seq
MIRT2063223	hsa-miR-4295	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT1218502	hsa-miR-4418	CLIP-seq
MIRT2063225	hsa-miR-4430	CLIP-seq
MIRT2291601	hsa-miR-4437	CLIP-seq
MIRT2291602	hsa-miR-4509	CLIP-seq
MIRT1218503	hsa-miR-451b	CLIP-seq
MIRT2291603	hsa-miR-4532	CLIP-seq
MIRT2063227	hsa-miR-454	CLIP-seq
MIRT2291604	hsa-miR-4666-5p	CLIP-seq
MIRT2291605	hsa-miR-4713-5p	CLIP-seq
MIRT2291606	hsa-miR-4744	CLIP-seq
MIRT1218510	hsa-miR-4763-5p	CLIP-seq
MIRT1218511	hsa-miR-4772-3p	CLIP-seq
MIRT1218512	hsa-miR-4775	CLIP-seq
MIRT2291607	hsa-miR-4778-3p	CLIP-seq
MIRT2291608	hsa-miR-4781-3p	CLIP-seq
MIRT2291609	hsa-miR-4795-5p	CLIP-seq
MIRT2291610	hsa-miR-485-3p	CLIP-seq
MIRT1218514	hsa-miR-509-3-5p	CLIP-seq
MIRT1218515	hsa-miR-509-5p	CLIP-seq
MIRT1218516	hsa-miR-5096	CLIP-seq
MIRT2291611	hsa-miR-519d	CLIP-seq
MIRT2291612	hsa-miR-520a-3p	CLIP-seq
MIRT2291613	hsa-miR-520b	CLIP-seq
MIRT2291614	hsa-miR-520c-3p	CLIP-seq
MIRT2291615	hsa-miR-520d-3p	CLIP-seq
MIRT2291616	hsa-miR-520e	CLIP-seq
MIRT2291617	hsa-miR-520g	CLIP-seq
MIRT2291618	hsa-miR-520h	CLIP-seq
MIRT2291619	hsa-miR-532-3p	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063231	hsa-miR-548g	CLIP-seq
MIRT1218519	hsa-miR-572	CLIP-seq
MIRT2291620	hsa-miR-573	CLIP-seq
MIRT1218521	hsa-miR-590-3p	CLIP-seq
MIRT1218522	hsa-miR-617	CLIP-seq
MIRT2063233	hsa-miR-622	CLIP-seq
MIRT1218524	hsa-miR-764	CLIP-seq
MIRT2291621	hsa-miR-877	CLIP-seq
MIRT2291622	hsa-miR-93	CLIP-seq
MIRT2063208	hsa-miR-122	CLIP-seq
MIRT2063210	hsa-miR-130a	CLIP-seq
MIRT2063211	hsa-miR-130b	CLIP-seq
MIRT2063214	hsa-miR-301a	CLIP-seq
MIRT2063215	hsa-miR-301b	CLIP-seq
MIRT2063217	hsa-miR-3135b	CLIP-seq
MIRT2392223	hsa-miR-323-5p	CLIP-seq
MIRT2063220	hsa-miR-3652	CLIP-seq
MIRT2063221	hsa-miR-3666	CLIP-seq
MIRT2063222	hsa-miR-3909	CLIP-seq
MIRT2063223	hsa-miR-4295	CLIP-seq
MIRT2063225	hsa-miR-4430	CLIP-seq
MIRT2063227	hsa-miR-454	CLIP-seq
MIRT1218511	hsa-miR-4772-3p	CLIP-seq
MIRT2392224	hsa-miR-541	CLIP-seq
MIRT2063231	hsa-miR-548g	CLIP-seq
MIRT1218519	hsa-miR-572	CLIP-seq
MIRT2392225	hsa-miR-654-5p	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT2439227	hsa-miR-4468	CLIP-seq
MIRT2439228	hsa-miR-4690-3p	CLIP-seq
MIRT2439229	hsa-miR-4726-3p	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT2439227	hsa-miR-4468	CLIP-seq
MIRT2439228	hsa-miR-4690-3p	CLIP-seq
MIRT2439229	hsa-miR-4726-3p	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2589370	hsa-miR-1254	CLIP-seq
MIRT2589371	hsa-miR-129-5p	CLIP-seq
MIRT2589372	hsa-miR-3116	CLIP-seq
MIRT2589373	hsa-miR-342-5p	CLIP-seq
MIRT2589374	hsa-miR-3674	CLIP-seq
MIRT1218499	hsa-miR-3934	CLIP-seq
MIRT2589375	hsa-miR-4268	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT2589376	hsa-miR-4651	CLIP-seq
MIRT2589377	hsa-miR-4664-5p	CLIP-seq
MIRT2589378	hsa-miR-4715-3p	CLIP-seq
MIRT2589379	hsa-miR-4735-5p	CLIP-seq
MIRT1218512	hsa-miR-4775	CLIP-seq
MIRT2589380	hsa-miR-4794	CLIP-seq
MIRT2063229	hsa-miR-5095	CLIP-seq
MIRT2589381	hsa-miR-513a-3p	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063232	hsa-miR-552	CLIP-seq
MIRT1218521	hsa-miR-590-3p	CLIP-seq
MIRT2589382	hsa-miR-608	CLIP-seq
MIRT2589383	hsa-miR-661	CLIP-seq
MIRT2063234	hsa-miR-767-5p	CLIP-seq
MIRT2063208	hsa-miR-122	CLIP-seq
MIRT2589370	hsa-miR-1254	CLIP-seq
MIRT2589371	hsa-miR-129-5p	CLIP-seq
MIRT2063210	hsa-miR-130a	CLIP-seq
MIRT2063211	hsa-miR-130b	CLIP-seq
MIRT2063214	hsa-miR-301a	CLIP-seq
MIRT2063215	hsa-miR-301b	CLIP-seq
MIRT2589372	hsa-miR-3116	CLIP-seq
MIRT2063217	hsa-miR-3135b	CLIP-seq
MIRT2589373	hsa-miR-342-5p	CLIP-seq
MIRT2063220	hsa-miR-3652	CLIP-seq
MIRT2063221	hsa-miR-3666	CLIP-seq
MIRT2589374	hsa-miR-3674	CLIP-seq
MIRT2589375	hsa-miR-4268	CLIP-seq
MIRT2063223	hsa-miR-4295	CLIP-seq
MIRT2063225	hsa-miR-4430	CLIP-seq
MIRT2291601	hsa-miR-4437	CLIP-seq
MIRT2291603	hsa-miR-4532	CLIP-seq
MIRT2063227	hsa-miR-454	CLIP-seq
MIRT2589376	hsa-miR-4651	CLIP-seq
MIRT2589377	hsa-miR-4664-5p	CLIP-seq
MIRT2589378	hsa-miR-4715-3p	CLIP-seq
MIRT2589379	hsa-miR-4735-5p	CLIP-seq
MIRT1218512	hsa-miR-4775	CLIP-seq
MIRT2589380	hsa-miR-4794	CLIP-seq
MIRT2589381	hsa-miR-513a-3p	CLIP-seq
MIRT1218521	hsa-miR-590-3p	CLIP-seq
MIRT2589382	hsa-miR-608	CLIP-seq
MIRT2589383	hsa-miR-661	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0001822	Process	Kidney development	IMP	18519639
GO:0001822	Process	Kidney development	ISS	8940009
GO:0002001	Process	Renin secretion into blood stream	IEP	8901832
GO:0004175	Function	Endopeptidase activity	EXP	16109723, 20581395
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	8901832
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	ISS	8940009
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	8947550
GO:0005796	Component	Golgi lumen	TAS
GO:0005802	Component	Trans-Golgi network	IBA
GO:0006465	Process	Signal peptide processing	IDA	16912035
GO:0006508	Process	Proteolysis	IEA
GO:0007267	Process	Cell-cell signaling	TAS	8901832
GO:0007507	Process	Heart development	ISS	8940009
GO:0007565	Process	Female pregnancy	IEA
GO:0007566	Process	Embryo implantation	ISS	8940009
GO:0008233	Function	Peptidase activity	IDA	15606899
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IMP	18519639
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IDA	15606899
GO:0016485	Process	Protein processing	IDA	8901832
GO:0016486	Process	Peptide hormone processing	IBA
GO:0016486	Process	Peptide hormone processing	IDA	8901832
GO:0016486	Process	Peptide hormone processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019058	Process	Viral life cycle	IEP	8940009
GO:0019058	Process	Viral life cycle	ISS	8940009
GO:0030323	Process	Respiratory tube development	ISS	8940009
GO:0032940	Process	Secretion by cell	IEA
GO:0034369	Process	Plasma lipoprotein particle remodeling	IEA
GO:0034369	Process	Plasma lipoprotein particle remodeling	TAS
GO:0035108	Process	Limb morphogenesis	ISS	8940009
GO:0042277	Function	Peptide binding	ISS	8940009
GO:0043043	Process	Peptide biosynthetic process	IDA	8901832
GO:0048566	Process	Embryonic digestive tract development	IMP	18519639
GO:0048566	Process	Embryonic digestive tract development	ISS	8940009
GO:0048706	Process	Embryonic skeletal system development	IMP	18519639
GO:0048706	Process	Embryonic skeletal system development	ISS	8940009
GO:0140447	Process	Cytokine precursor processing	ISS	8940009

MIM	HGNC	e!Ensembl
600488	8747	ENSG00000099139

Q92824

Protein name

Proprotein convertase subtilisin/kexin type 5 (EC 3.4.21.-) (Proprotein convertase 5) (PC5) (Proprotein convertase 6) (PC6) (hPC6) (Subtilisin/kexin-like protease PC5)

Protein function

Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive and regulated secretory pathways. Plays an essential role in pregnanc

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16470	S8_pro-domain	38 → 114	Peptidase S8 pro-domain	Domain
PF00082	Peptidase_S8	162 → 445	Subtilase family	Domain
PF01483	P_proprotein	505 → 595	Proprotein convertase P-domain	Family
PF14843	GF_recep_IV	635 → 756	Growth factor receptor domain IV	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in T-lymphocytes.

Sequence

MGWGSRCCCPGRLDLLCVLALLGGCLLPVCRTRVYTNHWAVKIAGGFPEANRIASKYGFI
NIGQIGALKDYYHFYHSRTIKRSVISSRGTHSFISMEPKVEWIQQQVVKKRTKRDYDFSR
AQSTYFNDPKWPSMWYMHCSDNTHPCQSDMNIEGAWKRGYTGKNIVVTILDDGIERTHPD
LMQNYDALASCDVNGNDLDPMPRYDASNENKHGTRCAGEVAAAANNSHCTVGIAFNAKIG
GVRMLDGDVTDMVEAKSVSFNPQHVHIYSASWGPDDDGKTVDGPAPLTRQAFENGVRMGR
RGLGSVFVWASGNGGRSKDHCSCDGYTNSIYTISISSTAESGKKPWYLEECSSTLATTYS
SGESYDKKIITTDLRQRCTDNHTGTSASAPMAAGIIALALEANPFLTWRDVQHVIVRTSR
AGHLNANDWKTNAAGFKVSHLYGFGLMDAEAMVMEAEKWTTVPRQHVCVESTDRQIKTIR
PNSAVRSIYKASGCSDNPNRHVNYLEHVVVRITITHPRRGDLAIYLTSPSGTRSQLLANR
LFDHSMEGFKNWEFMTIHCWGERAAGDWVLEVYDTPSQLRNFKTPGKLKEWSLVLYGTSV
QPYSPTNEFPKVERFRYSRVEDPTDDYGTEDYAGPCDPECSEVGCDGPGPDHCNDCLHYY
YKLKNNTRICVSSCPPGHYHADKKRCRKCAPNCESCFGSHGDQCMSCKYGYFLNEETNSC
VTHCPDGSYQDTKKNLCRKCSENCKTCTEFHNCTECRDGLSLQGSRCSVSCEDGRYFNGQ
DCQPCHRFCATCAGAGADGCINCTEGYFMEDGRCVQSCSISYYFDHSSENGYKSCKKCDI
SCLTCNGPGFKNCTSCPSGYLLDLGMCQMGAICKDGEYVDEHGHCQTCEASCAKCQGPTQ
EDCTTCPMTRIFDDGRCVSNCPSWKFEFENQCHPCHHTCQRCQGSGPTHCTSCGADNYGR
EHFLYQGECGDSCPEGHYATEGNTCLPCPDNCELCHSVHVCTRCMKGYFIAPTNHTCQKL
ECGQGEVQDPDYEECVPCEEGCLGCSLDDPGTCTSCAMGYYRFDHHCYKTCPEKTYSEEV
ECKACDSNCGSCDQNGCYWCEEGFFLLGGSCVRKCGPGFYGDQEMGECESCHRACETCTG
PGHDECSSCQEGLQLLRGMCVHATKTQEEGKFWNDILRKLQPCHSSCKTCNGSATLCTSC
PKGAYLLAQACVSSCPQGTWPSVRSGSCENCTEACAICSGADLCKKCQMQPGHPLFLHEG
RCYSKCPEGSYAEDGICERCSSPCRTCEGNATNCHSCEGGHVLHHGVCQENCPERHVAVK
GVCKHCPEMCQDCIHEKTCKECTPEFFLHDDMCHQSCPRGFYADSRHCVPCHKDCLECSG
PKADDCELCLESSWVLYDGLCLEECPAGTYYEKETKECRDCHKSCLTCSSSGTCTTCQKG
LIMNPRGSCMANEKCSPSEYWDEDAPGCKPCHVKCFHCMGPAEDQCQTCPMNSLLLNTTC
VKDCPEGYYADEDSNRCAHCHSSCRTCEGRHSRQCHSCRPGWFQLGKECLLQCREGYYAD
NSTGRCERCNRSCKGCQGPRPTDCLSCDRFFFLLRSKGECHRSCPDHYYVEQSTQTCERC
HPTCDQCKGKGALNCLSCVWSYHLMGGICTSDCLVGEYRVGEGEKFNCEKCHESCMECKG
PGAKNCTLCPANLVLHMDDSHCLHCCNTSDPPSAQECCDCQDTTDECILRTSKVRPATEH
FKTALFITSSMMLVLLLGAAVVVWKKSRGRVQPAAKAGYEKLADPNKSYSSYKSSYREST
SFEEDQVIEYRDRDYDEDDDDDIVYMGQDGTVYRKFKYGLLDDDDIDELEYDDESYSYYQ

Sequence length

1860

Interactions

View interactions

	Reactome
			NGF processing Assembly of active LPL and LIPC lipase complexes

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 Unknown Diseases (40)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANUS, IMPERFORATE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAUDAL REGRESSION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLON CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EXOMPHALOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OMPHALOCELE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SEPTAL DEFECT OF HEART	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CURRARINO TRIAD	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS, VENTRICULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPOTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PCSK5-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SACRAL DEFECT AND ANTERIOR SACRAL MENINGOCELE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR BRAIN INJURY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VATER ASSOCIATION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anus, Imperforate	Imperforate anus	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	21889147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21889147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	18519639, 28446132		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital exomphalos	Congenital Exomphalos	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital omphalocele	Congenital omphalocele	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Currarino triad	Currarino Triad	BEFREE	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Currarino triad	Currarino Triad	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	28446132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	28718802, 31703347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	16912035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31362389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jaw Abnormalities	Jaw Abnormalities	CTD_human_DG	18519639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	18519639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lower Extremity Deformities, Congenital	Lower Extremity Deformities	CTD_human_DG	18519639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lumbosacral agenesis	Lumbosacral Agenesis	CTD_human_DG	18519639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	23409034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29161592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27585649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	CTD_human_DG	18519639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	CTD_human_DG	18519639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect with anterior meningocele	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31695792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29161592		★★★★★ ★☆☆☆☆ Found in Text Mining only
VACTERL association	Vacterl association	Pubtator	26055999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	BEFREE	28446132		★★★★★ ★☆☆☆☆ Found in Text Mining only
VATER Association	VACTERL ASSOCIATION	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	CTD_human_DG	18519639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PCSK5 (proprotein convertase subtilisin/kexin type 5)