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Pcsk2 Gene Detail
Summary
  • Symbol
    Pcsk2
  • Name
    proprotein convertase subtilisin/kexin type 2
  • Synonyms
    6330411F23Rik, Nec-2, Nec2, PC2, Phpp-2, prohormone convertase 2, SPC2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97512
    NCBI Gene: 18549
  • Alliance
  • Transcription Start Sites
    3 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr2:143388076-143658205 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 2, 70.89 cM, cytoband F3-H2
  • Mapping Data
    16 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7660 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97512
protein coding gene Chr2:143388053-143658205 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026576
protein coding gene Chr2:147580538-147848664 (+)
A/J MGP_AJ_G0026540
protein coding gene Chr2:141637323-141890912 (+)
AKR/J MGP_AKRJ_G0026514
protein coding gene Chr2:145689515-145958549 (+)
BALB/cJ MGP_BALBcJ_G0026552
protein coding gene Chr2:142062381-142322778 (+)
C3H/HeJ MGP_C3HHeJ_G0026295
protein coding gene Chr2:146237904-146494361 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026997
protein coding gene Chr2:152018179-152301398 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024374
protein coding gene Chr2:135833803-136085973 (+)
CAST/EiJ MGP_CASTEiJ_G0025756
protein coding gene Chr2:146551777-146819878 (+)
CBA/J MGP_CBAJ_G0026275
protein coding gene Chr2:157583103-157855726 (+)
DBA/2J MGP_DBA2J_G0026409
protein coding gene Chr2:140930014-141179947 (+)
FVB/NJ MGP_FVBNJ_G0026373
protein coding gene Chr2:139497928-139766404 (+)
LP/J MGP_LPJ_G0026513
protein coding gene Chr2:147753305-148028367 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026393
protein coding gene Chr2:161797219-162081919 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027052
protein coding gene Chr2:145688281-145955118 (+)
PWK/PhJ MGP_PWKPhJ_G0025492
protein coding gene Chr2:140575677-140827216 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025293
protein coding gene Chr2:144735376-145002109 (+)
WSB/EiJ MGP_WSBEiJ_G0025829
protein coding gene Chr2:146693419-146966483 (+)



Homology
more
  • Human Ortholog
    PCSK2, proprotein convertase subtilisin/kexin type 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCSK2, proprotein convertase subtilisin/kexin type 2
  • Synonyms
    NEC 2, NEC-2, NEC2, PC2, SPC2
  • Links
    NCBI Gene ID: 5126
    neXtProt AC: NX_P16519
    UniProt: P16519

  • Chr Location
    20p12.1; chr20:17226107-17484578 (+)  GRCh38

Human Diseases
more
  • Diseases
    2 with human PCSK2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    45 phenotypes from 2 alleles in 5 genetic backgrounds
    41 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027419 Ensembl Gene Model | MGI Sequence Detail 270130 C57BL/6J ±  kb
    transcript ENSMUST00000028905 Ensembl | MGI Sequence Detail 4723 Not Applicable  
    polypeptide ENSMUSP00000028905 Ensembl | MGI Sequence Detail 637 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 16
      Primer pair 2
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-12803, MGD-MRK-12805, MGD-MRK-13192, MGD-MRK-13300, MGI:1918009, MGI:2139063
    References
    more
    • Summaries
      All 139
      Developmental Gene Expression 36
      Gene Ontology 11
      Phenotypes 41
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:357284 Lo Giudice Q, et al., Developmental emergence of first- and higher-order thalamic neuron molecular identities. Development. 2024 Sep 15;151(18)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    12/10/2024
    MGI 6.24
    The Jackson Laboratory