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Nphs1 Gene Detail
Summary
  • Symbol
    Nphs1
  • Name
    nephrosis 1, nephrin
  • Synonyms
    nephrin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859637
    NCBI Gene: 54631
  • Alliance
    genome feature page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:30157740-30186648 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 18.36 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    990 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859637
 protein coding gene Chr7:30157259-30188048 (+)
129S1/SvImJ ENSMUSG00200039632
 protein coding gene Chr7:19929774-19957863 (+)
A/J ENSMUSG00195044438
 protein coding gene Chr7:22607779-22635895 (+)
AKR/J ENSMUSG00220045901
 protein coding gene Chr7:21845115-21873990 (-)
BALB/cJ ENSMUSG00180015715
 protein coding gene Chr7:20667260-20695369 (+)
C3H/HeJ ENSMUSG00175029587
 protein coding gene Chr7:21746766-21775676 (+)
C57BL/6NJ ENSMUSG00215052369
 protein coding gene Chr7:19848888-19877798 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029522
 protein coding gene Chr7:29697340-29727225 (+)
CAST/EiJ ENSTCUG00005041251
 protein coding gene Chr7:21645937-21676706 (+)
CBA/J ENSMUSG00210025218
 protein coding gene Chr7:20909375-20938287 (+)
DBA/2J ENSMUSG00185046772
 protein coding gene Chr7:23998417-24026525 (+)
FVB/NJ ENSMUSG00205010928
 protein coding gene Chr7:20658382-20687303 (+)
JF1/MsJ ENSUMUG00000055232
 protein coding gene Chr7:28443752-28471811 (+)
LP/J ENSMUSG00230051949
 protein coding gene Chr7:29168875-29196976 (+)
NOD/ShiLtJ ENSMUSG00190007787
 protein coding gene Chr7:20331799-20360664 (+)
NZO/HlLtJ ENSMUSG00225025916
 protein coding gene Chr7:28010747-28037111 (+)
PWK/PhJ ENSLUMG00010020888
 protein coding gene Chr7:20375247-20403339 (+)
SPRET/EiJ ENSMSPG00010041812
 protein coding gene Chr7:19738449-19765425 (+)
WSB/EiJ ENSIUOG00005047903
 protein coding gene Chr7:14619748-14648634 (+)



Homology
more
  • Human Ortholog
    NPHS1, NPHS1 adhesion molecule, nephrin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPHS1, NPHS1 adhesion molecule, nephrin
  • Synonyms
    CNF, nephrin, NPHN
  • Links
    NCBI Gene ID: 4868
    UniProt: O60500

  • Chr Location
    19q13.12; chr19:35825372-35869287 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nphs1 mouse models; 1 with human NPHS1 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
    29 phenotypes from 5 alleles in 5 genetic backgrounds
    5 phenotypes from multigenic genotypes
    30 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.
Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    48
  • GO References
    21
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
    735
  • Tissues
    69
  • cDNA Data
    18
  • Literature Summary
    81
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006649 Ensembl Gene Model | MGI Sequence Detail 28909 C57BL/6J ±  kb
    transcript ENSMUST00000006825 Ensembl | MGI Sequence Detail 4608 Not Applicable  
    polypeptide ENSMUSP00000006825 Ensembl | MGI Sequence Detail 1256 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      cDNA 18
      Primer pair 10
      Antibodies 8

      Microarray probesets 3
    References
    more
    • Summaries
      All 169
      Developmental Gene Expression 81
      Diseases 3
      Gene Ontology 21
      Phenotypes 30
    • Earliest
      J:62771 Holzman LB, et al., Nephrin localizes to the slit pore of the glomerular epithelial cell. Kidney Int. 1999 Oct;56(4):1481-91
    • Latest
      J:390258 Dalal V, et al., Transcription factor 21 deletion from podocyte precursors as a model for congenital nephrotic syndrome. Am J Physiol Renal Physiol. 2026 Jun 1;330(6):F746-F760
    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)
    Citing These Resources
    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