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Pcsk6 Gene Detail
Summary
  • Symbol
    Pcsk6
  • Name
    proprotein convertase subtilisin/kexin type 6
  • Synonyms
    PACE4, SPC4
  • Feature Type
    protein coding gene
  • IDs
    MGI:102897
    NCBI Gene: 18553
  • Gene Overview
    MyGene.info: PCSK6
Location & Maps
more
  • Sequence Map
    Chr7:65861734-66050386 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      188653 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PCSK6, proprotein convertase subtilisin/kexin type 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PCSK6, proprotein convertase subtilisin/kexin type 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PACE4, SPC4
  • Links
    NCBI Gene ID: 5046
    neXtProt AC: NX_P29122

  • Chr Location
    15q26.3; chr15:101303928-101489984 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 1 allele in 1 genetic background
    12 phenotypes from multigenic genotypes
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    61
  • Chemically induced (other)
    1
  • Gene trapped
    57
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Pcsk6
  • Incidental Mutations
Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000042239 VEGA Gene Model | MGI Sequence Detail 188653 C57BL/6J ±  kb
transcript OTTMUST00000111029 VEGA | MGI Sequence Detail 4405 Not Applicable  
polypeptide OTTMUSP00000062052 VEGA | MGI Sequence Detail 959 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2493 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 62
    Genomic 1
    cDNA 58
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-23731, MGI:2142365
References
more
  • Summaries
    All 71
    Developmental Gene Expression 27
    Gene Ontology 4
    Phenotypes 21
  • Earliest
    J:52522 Steiner DF, et al., The new enzymology of precursor processing endoproteases. J Biol Chem. 1992 Nov 25;267(33):23435-8
  • Latest
    J:229467 Zhang KK, et al., Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation. Hum Mol Genet. 2016 Mar 15;25(6):1140-51

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory