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Pcsk2 Gene Detail
Summary
  • Symbol
    Pcsk2
  • Name
    proprotein convertase subtilisin/kexin type 2
  • Synonyms
    6330411F23Rik, Nec2, Nec-2, PC2, Phpp-2, prohormone convertase 2, SPC2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97512
    NCBI Gene: 18549
  • Gene Overview
    MyGene.info: PCSK2
Location & Maps
more
  • Sequence Map
    Chr2:143546156-143816285 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      270130 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 70.89 cM, cytoband F3-H2
  • Mapping Data
    16 experiments
Homology
more
  • Human Ortholog
    PCSK2, proprotein convertase subtilisin/kexin type 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PCSK2, proprotein convertase subtilisin/kexin type 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    NEC2, NEC 2, NEC-2, PC2, SPC2
  • Links
    NCBI Gene ID: 5126
    neXtProt AC: NX_P16519

  • Chr Location
    20p11.2; chr20:17226107-17484578 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 1 allele in 3 genetic backgrounds
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    3
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    1
  • Genomic Mutations
    2 involving Pcsk2
  • Incidental Mutations
Mice homozygous for disruptions of this gene display abnormalities in the maturation of peptide hormones leading to reduced female fertility, increased blood pressure on a high salt diet, and abnormal glucose metabolism.
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 OTTMUSG00000003089 VEGA Gene Model | MGI Sequence Detail 270130 C57BL/6J ±  kb
transcript OTTMUST00000006367 VEGA | MGI Sequence Detail 4723 Not Applicable  
polypeptide OTTMUSP00000002995 VEGA | MGI Sequence Detail 637 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3554 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 18
    cDNA 15
    Primer pair 1
    Other 2

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-12803, MGD-MRK-12805, MGD-MRK-13192, MGD-MRK-13300, MGI:1918009, MGI:2139063
References
more
  • Summaries
    All 113
    Developmental Gene Expression 29
    Gene Ontology 8
    Phenotypes 31
  • Earliest
    J:10744 Seidah NG, et al., cDNA sequence of two distinct pituitary proteins homologous to Kex2 and furin gene products: tissue-specific mRNAs encoding candidates for pro-hormone processing proteinases [published erratum appears in DNA Cell Biol 1990 Dec;9(10):789]. DNA Cell Biol. 1990 Jul-Aug;9(6):415-24
  • Latest
    J:227851 Pataskar A, et al., NeuroD1 reprograms chromatin and transcription factor landscapes to induce the neuronal program. EMBO J. 2016 Jan 4;35(1):24-45

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory