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Npnt Gene Detail
Summary
  • Symbol
    Npnt
  • Name
    nephronectin
  • Synonyms
    1110009H02Rik, POEM
  • Feature Type
    protein coding gene
  • IDs
    MGI:2148811
    NCBI Gene: 114249
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:132587506-132656052 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 61.52 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2217 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2148811
 protein coding gene Chr3:132587506-132656052 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027894
 protein coding gene Chr3:135664899-135735933 (-)
A/J MGP_AJ_G0027852
 protein coding gene Chr3:130880439-130950411 (-)
AKR/J MGP_AKRJ_G0027817
 protein coding gene Chr3:134298035-134366438 (-)
BALB/cJ MGP_BALBcJ_G0027865
 protein coding gene Chr3:130715053-130783929 (-)
C3H/HeJ MGP_C3HHeJ_G0027594
 protein coding gene Chr3:134687843-134757870 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028308
 protein coding gene Chr3:140423352-140492214 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025646
 protein coding gene Chr3:126313384-126382485 (-)
CAST/EiJ MGP_CASTEiJ_G0027050
 protein coding gene Chr3:134435080-134507825 (-)
CBA/J MGP_CBAJ_G0027570
 protein coding gene Chr3:145167829-145236352 (-)
DBA/2J MGP_DBA2J_G0027710
 protein coding gene Chr3:130045158-130114035 (-)
FVB/NJ MGP_FVBNJ_G0027677
 protein coding gene Chr3:127620385-127691058 (-)
LP/J MGP_LPJ_G0027820
 protein coding gene Chr3:137144586-137213238 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027708
 protein coding gene Chr3:153133114-153208360 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028366
 protein coding gene Chr3:133967998-134036679 (-)
PWK/PhJ MGP_PWKPhJ_G0026774
 protein coding gene Chr3:129819894-129887510 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026599
 protein coding gene Chr3:132033786-132105252 (-)
WSB/EiJ MGP_WSBEiJ_G0027129
 protein coding gene Chr3:134722049-134791343 (-)



Homology
more
  • Human Ortholog
    NPNT, nephronectin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPNT, nephronectin
  • Synonyms
    EGFL6L, POEM
  • Links
    NCBI Gene ID: 255743
    neXtProt AC: NX_Q6UXI9
    UniProt: Q6UXI9

  • Chr Location
    4q24; chr4:105894775-106004027 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Npnt mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    16 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 a null allele frequently exhibit kidney agenesis or hypoplasia attributed to a delay in the invasion of the metanephric mesenchyme by the ureteric bud at an early stage of kidney development.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • 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
    1266
  • Tissues
    251
  • cDNA Data
    22
  • Literature Summary
    30
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 114249 NCBI Gene Model | MGI Sequence Detail 68547 C57BL/6J ±  kb
    transcript NM_001287101 RefSeq | MGI Sequence Detail 4763 C57BL/6  
    polypeptide Q91V88 UniProt | EBI | MGI Sequence Detail 561 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 23
      Primer pair 6
      Other 3

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1915250, MGI:2139604, MGI:2139662
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 30
      Diseases 2
      Gene Ontology 10
      Phenotypes 16
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345230 Garis M, et al., Expression of Nephronectin in the Descemet's membrane of mouse corneas during development and adult homeostasis. Exp Eye Res. 2024 Jan 19;240:109797
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory