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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:156138297-156155605 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 67.71 cM, cytoband G3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    635 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2157018
 protein coding gene Chr1:156138105-156155605 (+)
129S1/SvImJ ENSMUSG00200005990
 protein coding gene Chr1:153588174-153605187 (+)
A/J ENSMUSG00195022379
 protein coding gene Chr1:152970011-152987099 (+)
AKR/J ENSMUSG00220005661
 protein coding gene Chr1:152769296-152786394 (+)
BALB/cJ ENSMUSG00180032541
 protein coding gene Chr1:153189160-153206245 (+)
C3H/HeJ ENSMUSG00175034490
 protein coding gene Chr1:153233585-153250671 (+)
C57BL/6NJ ENSMUSG00215037278
 protein coding gene Chr1:153124458-153141770 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014734
 protein coding gene Chr1:146975078-146992225 (+)
CAST/EiJ ENSTCUG00005005381
 protein coding gene Chr1:151781474-151798597 (+)
CBA/J ENSMUSG00210020548
 protein coding gene Chr1:153131671-153148767 (+)
DBA/2J ENSMUSG00185042008
 protein coding gene Chr1:157408368-157425459 (+)
FVB/NJ ENSMUSG00205017011
 protein coding gene Chr1:152264084-152281182 (+)
JF1/MsJ ENSUMUG00000008321
 protein coding gene Chr1:156560329-156577425 (+)
LP/J ENSMUSG00230016197
 protein coding gene Chr1:156970281-156987306 (+)
NOD/ShiLtJ ENSMUSG00190028420
 protein coding gene Chr1:152979839-152996932 (+)
NZO/HlLtJ ENSMUSG00225005959
 protein coding gene Chr1:160641146-160658166 (+)
PWK/PhJ ENSLUMG00010028687
 protein coding gene Chr1:151921872-151938954 (+)
SPRET/EiJ ENSMSPG00010036081
 protein coding gene Chr1:155267652-155283861 (+)
WSB/EiJ ENSIUOG00005023227
 protein coding gene Chr1:152558822-152575841 (+)



Homology
more
  • Human Ortholog
    NPHS2, NPHS2 stomatin family member, podocin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPHS2, NPHS2 stomatin family member, podocin
  • Synonyms
    PDCN, SRN1
  • Links
    NCBI Gene ID: 7827
    UniProt: Q9NP85

  • Chr Location
    1q25.2; chr1:179550494-179575952 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nphs2 mouse models; 1 with human NPHS2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    54 phenotypes from 3 alleles in 5 genetic backgrounds
    3 images
    28 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
less
  • All GO Annotations
    27
  • GO References
    10
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
less
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
    722
  • Tissues
    60
  • cDNA Data
    17
  • Literature Summary
    53
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026602 Ensembl Gene Model | MGI Sequence Detail 17309 C57BL/6J ±  kb
    transcript ENSMUST00000027896 Ensembl | MGI Sequence Detail 3116 Not Applicable  
    polypeptide ENSMUSP00000027896 Ensembl | MGI Sequence Detail 385 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 17
      Primer pair 4
      Other 2
      Antibodies 7

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2138323
    References
    more
    • Summaries
      All 127
      Developmental Gene Expression 53
      Diseases 3
      Gene Ontology 10
      Phenotypes 28
    • 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:381822 Niculovic KM, et al., Polysialic acid regulates glomerular microvasculature formation by interaction with VEGF-A188 in mice. Angiogenesis. 2025 May 24;28(3):31
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory