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 undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-... See more...

Aliases for PCSK6 Gene

Aliases for PCSK6 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 6 2 3 4 5
  • Subtilisin-Like Proprotein Convertase 4 2 3 4
  • Subtilisin/Kexin-Like Protease PACE4 2 3 4
  • SPC4 2 3 4
  • Paired Basic Amino Acid Cleaving System 4 2 3
  • Paired Basic Amino Acid Cleaving Enzyme 4 3 4
  • PACE4 3 4
  • Subtilisin-Like Protease 2
  • EC 3.4.21.75'); 50
  • EC 3.4.21.75 50
  • EC 3.4.21.61 50
  • EC 3.4.21.- 4
  • EC 3.4.21 50
  • PCSK6 5

External Ids for PCSK6 Gene

Previous HGNC Symbols for PCSK6 Gene

  • PACE4

Previous GeneCards Identifiers for PCSK6 Gene

  • GC15M099580
  • GC15M099661
  • GC15M101844
  • GC15M077966
  • GC15M101297
  • GC15M105064

Summaries for PCSK6 Gene

Entrez Gene Summary for PCSK6 Gene

  • 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 undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]

GeneCards Summary for PCSK6 Gene

PCSK6 (Proprotein Convertase Subtilisin/Kexin Type 6) is a Protein Coding gene. Diseases associated with PCSK6 include Anthrax Disease and Dyslexia. Among its related pathways are Signaling by GPCR and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PCSK5.

UniProtKB/Swiss-Prot Summary for PCSK6 Gene

  • 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 secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues.

Gene Wiki entry for PCSK6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCSK6 Gene

Genomics for PCSK6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCSK6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J101488 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.3 +35.8 35801 2.4 ZNF600 MYC CEBPA ZIC2 ZBTB10 YY1 MXD4 KLF11 TBP ZNF341 LOC107987228 lnc-OR4F6-5 PCSK6 SNRPA1 ENSG00000259381 LINS1 PRKXP1 WASH3P ASB7 LRRK1
GH15J101523 Enhancer 0.5 Ensembl 250.7 +1.7 1701 1 ZNF341 GABPB1 TFAP4 ZNF644 TGIF2 SP5 SOX13 FOXA3 ENSG00000277210 LOC100507472 PCSK6 RNU6-807P HSALNG0108635 SNRPA1
GH15J101438 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 32.3 +85.7 85666 2.1 KLF9 CEBPA ATF3 CHD4 YY1 MXD4 KLF11 ZNF341 HOMEZ KMT2B PCSK6 piR-33077 RF00017-1706 LOC100507472 SNRPA1
GH15J101454 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 18.4 +69.2 69246 2 ZNF592 YY1 BHLHE40 TAF9B FOXA2 RXRA ZNF511 SAP130 ETV4 RARA PCSK6 TM2D3 CHSY1 RF00017-1706 piR-33077 LOC100507472 SNRPA1
GH15J101458 Enhancer 0.9 Ensembl ENCODE dbSUPER 12.8 +65.8 65815 2.4 CEBPA BCL6 ATF4 GLIS1 CEBPG HLF PKNOX1 MLLT1 PRDM10 PCSK6 RF00017-1706 piR-33077 LOC100507472 SNRPA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCSK6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCSK6

Top Transcription factor binding sites by QIAGEN in the PCSK6 gene promoter:
  • AP-1
  • ARP-1
  • c-Fos
  • c-Jun
  • HFH-3
  • ITF-2
  • POU2F1
  • POU2F1a
  • Tal-1beta
  • YY1

Genomic Locations for PCSK6 Gene

Latest Assembly
chr15:101,289,784-101,525,202
(GRCh38/hg38)
Size:
235,419 bases
Orientation:
Minus strand

Previous Assembly
chr15:101,844,138-102,029,910
(GRCh37/hg19 by Entrez Gene)
Size:
185,773 bases
Orientation:
Minus strand

chr15:101,840,818-102,065,405
(GRCh37/hg19 by Ensembl)
Size:
224,588 bases
Orientation:
Minus strand

Genomic View for PCSK6 Gene

Genes around PCSK6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK6 Gene

Proteins for PCSK6 Gene

  • Protein details for PCSK6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29122-PCSK6_HUMAN
    Recommended name:
    Proprotein convertase subtilisin/kexin type 6
    Protein Accession:
    P29122
    Secondary Accessions:
    • Q15099
    • Q15100
    • Q9UEG7
    • Q9UEJ1
    • Q9UEJ2
    • Q9UEJ7
    • Q9UEJ8
    • Q9UEJ9
    • Q9Y4G9
    • Q9Y4H0
    • Q9Y4H1

    Protein attributes for PCSK6 Gene

    Size:
    969 amino acids
    Molecular mass:
    106420 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • The PACE4A-I precursor protein seems to exist in the reticulum endoplasmic as both a monomer and a dimer-sized complex whereas mature PACE4A-I exists only as a monomer, suggesting that propeptide cleavage affects its tertiary or quaternary structure. Interacts (immature form including the propeptide) with RCN3; probably involved in the maturation and the secretion of PCSK6 (PubMed:16433634).
    Miscellaneous:
    • [Isoform PACE4B]: Probably enzymatically inactive.
    • [Isoform PACE4C]: Probably enzymatically inactive.
    • [Isoform PACE4CS]: Probably enzymatically inactive.
    • [Isoform PACE4D]: Probably enzymatically inactive.

    Alternative splice isoforms for PCSK6 Gene

neXtProt entry for PCSK6 Gene

Selected DME Specific Peptides for PCSK6 Gene

P29122:
  • GKLKEWSL
  • HGTRCAGEVAA
  • GSIFVWA
  • HGTRCAGE
  • YLEHVVV
  • PWYLEEC
  • STLATTYSSG
  • LTWRDVQ
  • SWGPDDDGKTVDGP
  • DYYHFYHS
  • CDGYTNSI
  • AWKRGYTGKN
  • DGYTNSI
  • WASGNGG

Post-translational modifications for PCSK6 Gene

  • Glycosylation at Asn259, Asn914, and Asn932
  • Ubiquitination at Lys136
  • Modification sites at PhosphoSitePlus

Domains & Families for PCSK6 Gene

Gene Families for PCSK6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for PCSK6 Gene

GenScript: Design optimal peptide antigens:
  • Proprotein convertase subtilisin/kexin type 6 (A2RQD9_HUMAN)
  • Subtilisin/kexin-like protease PACE4 (PCSK6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29122

UniProtKB/Swiss-Prot:

PCSK6_HUMAN :
  • The propeptide domain acts as an intramolecular chaperone assisting the folding of the zymogen within the endoplasmic reticulum. Isoform PACE4D lacks the propeptide domain.
  • Belongs to the peptidase S8 family.
Domain:
  • The propeptide domain acts as an intramolecular chaperone assisting the folding of the zymogen within the endoplasmic reticulum. Isoform PACE4D lacks the propeptide domain.
Family:
  • Belongs to the peptidase S8 family.
genes like me logo Genes that share domains with PCSK6: view

Function for PCSK6 Gene

Molecular function for PCSK6 Gene

UniProtKB/Swiss-Prot 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 secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues.

Enzyme Numbers (IUBMB) for PCSK6 Gene

Phenotypes From GWAS Catalog for PCSK6 Gene

Gene Ontology (GO) - Molecular Function for PCSK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 9242664
GO:0004252 serine-type endopeptidase activity IEA,IDA 8218226
GO:0005515 protein binding IPI 16433634
GO:0008201 heparin binding IDA 12535616
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with PCSK6: view
genes like me logo Genes that share phenotypes with PCSK6: view

Animal Models for PCSK6 Gene

MGI Knock Outs for PCSK6:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCSK6

Clone products for research

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCSK6 Gene

Localization for PCSK6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK6 Gene

[Isoform PACE4A-I]: Secreted.
[Isoform PACE4A-II]: Secreted.
[Isoform PACE4C]: Endoplasmic reticulum. Note=Not secreted, remains probably in zymogen form in endoplasmic reticulum.
[Isoform PACE4CS]: Endoplasmic reticulum. Note=Not secreted, remains probably in zymogen form in endoplasmic reticulum.
[Isoform PACE4E-I]: Endomembrane system. Peripheral membrane protein. Note=Retained intracellularly probably through a hydrophobic cluster in their C-terminus.
[Isoform PACE4E-II]: Endomembrane system. Peripheral membrane protein. Note=Retained intracellularly probably through a hydrophobic cluster in their C-terminus.
[Isoform PACE4B]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCSK6 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
nucleus 3
mitochondrion 2
endosome 2
cytoskeleton 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PCSK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IDA 8906861
GO:0005783 endoplasmic reticulum IEA --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PCSK6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCSK6 Gene

Pathways & Interactions for PCSK6 Gene

genes like me logo Genes that share pathways with PCSK6: view

SIGNOR curated interactions for PCSK6 Gene

Activates:

Gene Ontology (GO) - Biological Process for PCSK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007354 zygotic determination of anterior/posterior axis, embryo IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0009100 glycoprotein metabolic process IDA 8218226
GO:0016485 protein processing IBA,IDA 8218226
genes like me logo Genes that share ontologies with PCSK6: view

Drugs & Compounds for PCSK6 Gene

(3) Drugs for PCSK6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959

(1) Additional Compounds for PCSK6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PCSK6: view

Transcripts for PCSK6 Gene

mRNA/cDNA for PCSK6 Gene

9 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCSK6

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - -
SP7: -
SP8: -
SP9:
SP10: -
SP11:

ExUns: 24 ^ 25a · 25b ^ 26a · 26b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:

Relevant External Links for PCSK6 Gene

GeneLoc Exon Structure for
PCSK6

Expression for PCSK6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCSK6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCSK6 Gene

This gene is overexpressed in Liver (x12.5), Brain - Spinal cord (cervical c-1) (x8.5), Spleen (x4.8), and Brain - Substantia nigra (x4.1).

Protein differential expression in normal tissues from HIPED for PCSK6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (45.6) and Platelet (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCSK6 Gene



Protein tissue co-expression partners for PCSK6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCSK6

SOURCE GeneReport for Unigene cluster for PCSK6 Gene:

Hs.498494

mRNA Expression by UniProt/SwissProt for PCSK6 Gene:

P29122-PCSK6_HUMAN
Tissue specificity: Each PACE4 isoform exhibits a unique restricted distribution. Isoform PACE4A-I is expressed in heart, brain, placenta, lung, skeletal muscle, kidney, pancreas, but at comparatively higher levels in the liver. Isoform PACE4A-II is at least expressed in placenta. Isoform PACE4B was only found in the embryonic kidney cell line from which it was isolated. Isoform PACE4C and isoform PACE4D are expressed in placenta. Isoform PACE4E-I is expressed in cerebellum, placenta and pituitary. Isoform PACE4E-II is at least present in cerebellum.

Evidence on tissue expression from TISSUES for PCSK6 Gene

  • Nervous system(4.6)
  • Kidney(4.4)
  • Liver(2.8)
  • Blood(2.3)
  • Spleen(2.3)
  • Heart(2.2)
  • Muscle(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with PCSK6: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PCSK6 Gene

Orthologs for PCSK6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCSK6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PCSK6 29 30
  • 98.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PCSK6 29 30
  • 89.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pcsk6 29 16 30
  • 86.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pcsk6 29
  • 86.87 (n)
Cow
(Bos Taurus)
Mammalia PCSK6 29 30
  • 85.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PCSK6 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PCSK6 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PCSK6 29 30
  • 73.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 42 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pcsk6 29
  • 69.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii PCSK6 30
  • 66 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea kpc-1 30
  • 43 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 52 (a)
OneToMany
Species where no ortholog for PCSK6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PCSK6 Gene

ENSEMBL:
Gene Tree for PCSK6 (if available)
TreeFam:
Gene Tree for PCSK6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCSK6: view image
Alliance of Genome Resources:
Additional Orthologs for PCSK6

Paralogs for PCSK6 Gene

Paralogs for PCSK6 Gene

(7) SIMAP similar genes for PCSK6 Gene using alignment to 12 proteins:

  • PCSK6_HUMAN
  • A2RQD9_HUMAN
  • E7EM82_HUMAN
  • E7EQ62_HUMAN
  • E7EWH5_HUMAN
  • H0Y3Q0_HUMAN
  • H0YKK2_HUMAN
  • H0YKZ4_HUMAN
  • H0YLC8_HUMAN
  • H0YMW5_HUMAN
  • H7BXT3_HUMAN
  • L8EAN7_HUMAN
genes like me logo Genes that share paralogs with PCSK6: view

Variants for PCSK6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCSK6 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs1060499889 Benign: not specified 101,382,116(-) A/G
NM_002570.5(PCSK6):c.1508T>C (p.Val503Ala)
MISSENSE_VARIANT,INTRON
rs117001662 Likely Benign: not provided 101,322,570(-) T/C
NM_002570.5(PCSK6):c.2415A>G (p.Lys805=)
SYNONYMOUS
rs149680467 Likely Benign: not provided 101,313,475(-) G/A
NM_002570.5(PCSK6):c.2600C>T (p.Ala867Val)
MISSENSE
rs1555450297 Likely Benign: not specified 101,370,481(-) G/A
NM_002570.5(PCSK6):c.1575C>T (p.Thr525=)
SYNONYMOUS
rs34631529 Likely Benign: not provided 101,305,277(-) G/A
NM_002570.5(PCSK6):c.2891C>T (p.Thr964Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PCSK6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PCSK6 Gene

Variant ID Type Subtype PubMed ID
dgv1277n106 CNV deletion 24896259
dgv2673n100 CNV gain 25217958
dgv2674n100 CNV gain 25217958
dgv2675n100 CNV gain 25217958
dgv2676n100 CNV gain 25217958
dgv2677n100 CNV loss 25217958
dgv2678n100 CNV gain 25217958
dgv4791n54 CNV gain 21841781
dgv4792n54 CNV gain 21841781
dgv4793n54 CNV gain+loss 21841781
dgv4794n54 CNV gain 21841781
dgv4795n54 CNV gain+loss 21841781
dgv4796n54 CNV loss 21841781
dgv4797n54 CNV gain 21841781
dgv4798n54 CNV loss 21841781
dgv4799n54 CNV loss 21841781
esv1007750 CNV deletion 20482838
esv1370843 CNV insertion 17803354
esv1625622 CNV insertion 17803354
esv2244647 CNV deletion 18987734
esv22828 CNV loss 19812545
esv2343291 CNV deletion 18987734
esv2422359 CNV duplication 17116639
esv24793 CNV gain 19812545
esv2666943 CNV deletion 23128226
esv2750184 CNV deletion 23290073
esv2750186 CNV deletion 23290073
esv2750187 CNV deletion 23290073
esv2750188 CNV deletion 23290073
esv2750189 CNV deletion 23290073
esv2750190 CNV deletion 23290073
esv2750191 CNV deletion 23290073
esv2750192 CNV deletion 23290073
esv2750193 CNV deletion 23290073
esv2750194 CNV deletion 23290073
esv27538 CNV loss 19812545
esv2760063 CNV gain+loss 17122850
esv3387944 CNV insertion 20981092
esv34275 CNV gain 17911159
esv3581873 CNV loss 25503493
esv3581874 CNV loss 25503493
esv3581875 CNV loss 25503493
esv3637501 CNV gain 21293372
esv3637507 CNV gain 21293372
esv3637508 CNV loss 21293372
esv3637509 CNV loss 21293372
esv3637510 CNV loss 21293372
esv3637511 CNV gain 21293372
esv992073 CNV insertion 20482838
nsv1035599 CNV gain 25217958
nsv1044753 CNV gain 25217958
nsv1045675 CNV loss 25217958
nsv1046079 CNV gain 25217958
nsv1049577 CNV gain 25217958
nsv1050862 CNV gain 25217958
nsv1053507 CNV loss 25217958
nsv1070304 CNV deletion 25765185
nsv1071241 CNV deletion 25765185
nsv1078768 CNV insertion 25765185
nsv1078769 CNV insertion 25765185
nsv1115985 CNV insertion 24896259
nsv1126410 CNV deletion 24896259
nsv1136203 CNV deletion 24896259
nsv1142869 CNV tandem duplication 24896259
nsv1149056 CNV insertion 26484159
nsv1160324 CNV deletion 26073780
nsv428314 CNV loss 18775914
nsv457290 CNV loss 19166990
nsv457291 CNV gain 19166990
nsv469741 CNV gain 16826518
nsv471266 CNV gain 18288195
nsv475309 CNV novel sequence insertion 20440878
nsv477192 CNV novel sequence insertion 20440878
nsv523415 CNV gain 19592680
nsv570828 CNV gain 21841781
nsv570849 CNV loss 21841781
nsv570851 CNV loss 21841781
nsv570855 CNV loss 21841781
nsv570857 CNV loss 21841781
nsv570860 CNV gain+loss 21841781
nsv570875 CNV loss 21841781
nsv570887 CNV gain 21841781
nsv570890 CNV gain+loss 21841781
nsv570895 CNV loss 21841781
nsv833110 CNV gain+loss 17160897
nsv9310 CNV gain 18304495
nsv9311 CNV gain 18304495
nsv94947 CNV deletion 16902084
nsv952890 CNV deletion 24416366

Variation tolerance for PCSK6 Gene

Gene Damage Index Score: 7.66; 82.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCSK6 Gene

Human Gene Mutation Database (HGMD)
PCSK6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCSK6
Leiden Open Variation Database (LOVD)
PCSK6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK6 Gene

Disorders for PCSK6 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PCSK6 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PCSK6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PCSK6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PCSK6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCSK6 Gene

Publications for PCSK6 Gene

  1. Identification of a second human subtilisin-like protease gene in the fes/fps region of chromosome 15. (PMID: 1741956) Kiefer MC … Barr PJ (DNA and cell biology 1991) 2 3 4 22
  2. A proteomic approach reveals transient association of reticulocalbin-3, a novel member of the CREC family, with the precursor of subtilisin-like proprotein convertase, PACE4. (PMID: 16433634) Tsuji A … Matsuda Y (The Biochemical journal 2006) 3 4 22
  3. The association between paired basic amino acid cleaving enzyme 4 gene haplotype and diastolic blood pressure. (PMID: 15043778) Li JP … Huo Y (Chinese medical journal 2004) 3 22 40
  4. Endoprotease PACE4 is Ca2+-dependent and temperature-sensitive and can partly rescue the phenotype of a furin-deficient cell strain. (PMID: 10215603) Sucic JF … Moehring TJ (The Biochemical journal 1999) 3 4 22
  5. Biosynthetic processing and quaternary interactions of proprotein convertase SPC4 (PACE4). (PMID: 9738469) Nagahama M … Matsuda Y (FEBS letters 1998) 3 4 22

Products for PCSK6 Gene

Sources for PCSK6 Gene