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Invs Gene Detail
Summary
  • Symbol
    Invs
  • Name
    inversin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1335082
    NCBI Gene: 16348
  • Gene Overview
    MyGene.info: INVS
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:48279760-48431954 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 26.11 cM, cytoband B
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1063 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1335082
protein coding gene Chr4:48279760-48431956 (.)
129S1/SvImJ MGP_129S1SvImJ_G0028273
protein coding gene Chr4:46699421-46856773 (+)
A/J MGP_AJ_G0028232
protein coding gene Chr4:44956259-45109705 (+)
AKR/J MGP_AKRJ_G0028182
protein coding gene Chr4:46099273-46256902 (+)
BALB/cJ MGP_BALBcJ_G0028252
protein coding gene Chr4:45072368-45226381 (+)
C3H/HeJ MGP_C3HHeJ_G0027973
protein coding gene Chr4:46670321-46829508 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028693
protein coding gene Chr4:48387974-48547242 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026002
protein coding gene Chr4:42307142-42454410 (+)
CAST/EiJ MGP_CASTEiJ_G0027412
protein coding gene Chr4:46263749-46429785 (+)
CBA/J MGP_CBAJ_G0027939
protein coding gene Chr4:49943714-50117108 (+)
DBA/2J MGP_DBA2J_G0028089
protein coding gene Chr4:44837706-44993943 (+)
FVB/NJ MGP_FVBNJ_G0028056
protein coding gene Chr4:44108681-44261438 (+)
LP/J MGP_LPJ_G0028188
protein coding gene Chr4:46750453-46916443 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028080
protein coding gene Chr4:52964054-53122882 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028728
protein coding gene Chr4:46291172-46455720 (+)
PWK/PhJ MGP_PWKPhJ_G0027137
protein coding gene Chr4:44960450-45120427 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026965
protein coding gene Chr4:45806072-45968645 (+)
WSB/EiJ MGP_WSBEiJ_G0027490
protein coding gene Chr4:46227387-46388895 (+)



Homology
more
  • Human Ortholog
    INVS, inversin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    INVS, inversin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    INV, NPH2, NPHP2
  • Links
    NCBI Gene ID: 27130
    neXtProt AC: NX_Q9Y283
    UniProt: Q9Y283

  • Chr Location
    9q31.1; chr9:100099185-100302175 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Invs mouse models; 1 with human INVS associations

Human Disease Mouse Models
      
IDs
View 1 model
      
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
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  • Phenotype Summary
    65 phenotypes from 1 allele in 3 genetic backgrounds
    4 phenotypes from multigenic genotypes
    36 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Transgenic mice homozygous for an insertional mutation exhibit complete inversion of the L-R body axis, reversal of embryo turning, complex cardiac anomalies, an abnormally slow turbulent leftward nodal flow, and renal cyst formation. Most succumb to renal failure within 1 week of life.
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028344 Ensembl Gene Model | MGI Sequence Detail 152195 C57BL/6J ±  kb
    transcript ENSMUST00000030029 Ensembl | MGI Sequence Detail 5633 Not Applicable  
    polypeptide ENSMUSP00000030029 Ensembl | MGI Sequence Detail 1062 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • InterPro Domains
      IPR002110 Ankyrin repeat
      IPR020683 Ankyrin repeat-containing domain
      IPR036770 Ankyrin repeat-containing domain superfamily
      IPR000048 IQ motif, EF-hand binding site
    Molecular
    Reagents
    less
    • All nucleic 66
      Genomic 34
      cDNA 28
      Primer pair 3
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11438, MGI:2140271, MGI:2140572, MGI:96580
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 13
      Diseases 2
      Gene Ontology 8
      Phenotypes 36
    • Earliest
      J:4934 Yokoyama T, et al., Reversal of left-right asymmetry: a situs inversus mutation [see comments]. Science. 1993 Apr 30;260(5108):679-82
    • Latest
      J:262851 Shigeta M, et al., Tubular cell loss in early inv/nphp2 mutant kidneys represents a possible homeostatic mechanism in cortical tubular formation. PLoS One. 2018;13(6):e0198580

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory