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Nphs2 Gene Detail
Summary
  • Symbol
    Nphs2
  • Name
    nephrosis 2, podocin
  • Synonyms
    podocin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2157018
    NCBI Gene: 170484
  • Gene Overview
    MyGene.info: NPHS2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:156310727-156328035 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17309 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 67.71 cM, cytoband G3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NPHS2, NPHS2, podocin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NPHS2, NPHS2, podocin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PDCN, SRN1
  • Links
    NCBI Gene ID: 7827
    neXtProt AC: NX_Q9NP85
    UniProt: Q9NP85

  • Chr Location
    1q25.2; chr1:179550539-179575987 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 22826
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NPHS2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nphs2 mouse models

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    46 phenotypes from 3 alleles in 4 genetic backgrounds
    11 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 in this gene display kidney glomerular defects leading to blood and urine chemistry abnormalities. Death usually occurs before 5 weeks of age.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000050345 VEGA Gene Model | MGI Sequence Detail 17309 C57BL/6J ±  kb
    transcript OTTMUST00000127804 VEGA | MGI Sequence Detail 3116 Not Applicable  
    polypeptide OTTMUSP00000068877 VEGA | MGI Sequence Detail 385 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      276 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 16
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2138323
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 29
      Diseases 2
      Gene Ontology 6
      Phenotypes 11
    • Earliest
      J:73142 Schwarz K, et al., Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest. 2001 Dec;108(11):1621-9
    • Latest
      J:253680 Chung E, et al., Notch is required for the formation of all nephron segments and primes nephron progenitors for differentiation. Development. 2017 Dec 15;144(24):4530-4539

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory