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    Invs inversin [ Mus musculus (house mouse) ]

    Gene ID: 16348, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Invsprovided by MGI
    Official Full Name
    inversinprovided by MGI
    Primary source
    MGI:MGI:1335082
    See related
    Ensembl:ENSMUSG00000028344 AllianceGenome:MGI:1335082
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    inv; Nphp2
    Summary
    Predicted to enable calmodulin binding activity. Acts upstream of or within several processes, including animal organ development; epithelial cilium movement involved in determination of left/right asymmetry; and protein localization to ciliary inversin compartment. Located in ciliary base and ciliary inversin compartment. Is expressed in several structures, including adrenal gland; brain; gut gland; hemolymphoid system; and skeletal musculature. Used to study nephronophthisis 2 and tetralogy of Fallot. Human ortholog(s) of this gene implicated in nephronophthisis 2. Orthologous to human INVS (inversin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 4.6), limb E14.5 (RPKM 4.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Invs in Genome Data Viewer
    Location:
    4 B1; 4 26.11 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (48279707..48431956)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (48279707..48431956)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2691 Neighboring gene syntaxin 17 Neighboring gene STARR-seq mESC enhancer starr_10154 Neighboring gene STARR-positive B cell enhancer ABC_E6176 Neighboring gene endoplasmic reticulum protein 44 Neighboring gene microRNA 1958 Neighboring gene STARR-positive B cell enhancer ABC_E6177 Neighboring gene STARR-seq mESC enhancer starr_10155 Neighboring gene STARR-positive B cell enhancer ABC_E1644 Neighboring gene STARR-seq mESC enhancer starr_10157 Neighboring gene heterogeneous nuclear ribonucleoprotein F pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E6178 Neighboring gene testis expressed gene 10 Neighboring gene STARR-seq mESC enhancer starr_10161 Neighboring gene STARR-seq mESC enhancer starr_10162 Neighboring gene STARR-seq mESC enhancer starr_10163 Neighboring gene STARR-seq mESC enhancer starr_10164 Neighboring gene STARR-seq mESC enhancer starr_10167 Neighboring gene Myb/SANT-like DNA-binding domain containing 3 Neighboring gene transmembrane protein with EGF-like and two follistatin-like domains 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse. Li Y, et al. Elife, 2023 Mar 15. PMID 36920028, Free PMC Article
    2. Tubular cell loss in early inv/nphp2 mutant kidneys represents a possible homeostatic mechanism in cortical tubular formation. Shigeta M, et al. PLoS One, 2018. PMID 29889867, Free PMC Article
    3. Loss of inversin decreases transepithelial sodium transport in murine renal cells. Kulkarni NH, et al. Am J Physiol Cell Physiol, 2017 Dec 1. PMID 28978526
    4. Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice. Tsuji T, et al. Cytoskeleton (Hoboken), 2016 Jan. PMID 26615802
    5. The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly. Mergen M, et al. Nephrol Dial Transplant, 2013 Nov. PMID 24026243

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.
      Title: Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.
    2. Loss of inversin decreases Na(+) transport via epithelial sodium channel in kidney collecting duct cells.
      Title: Loss of inversin decreases transepithelial sodium transport in murine renal cells.
    3. We constructed sub-congenic lines to more specifically localize the modifier and have determined it resides in a 3.2 Mb interval containing 28 genes. These include Invs and Anks6, which are both excellent candidates for the modifier as mutations in these genes result in PKD and both genes are known to genetically and physically interact with Nek8.
      Title: High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease.
    4. Ciliary abnormalities are associated with nphp2 mutant mice.
      Title: Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice.
    5. Loss of NPHP2 causes ciliogenesis defects.
      Title: The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly.
    6. the significance of Inversin in controlling cell migration processes
      Title: Inversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration.
    7. Nek8 acts downstream of Inv function
      Title: The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish.
    8. Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
      Title: Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.
    9. Results show that the Inv protein (also known as inversin) is localized at a distinctive proximal segment of the primary cilium.
      Title: Localization of Inv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-containing region.
    10. The localization of inversin in distal tubules in the kidney and in extrarenal tissues suggests that the expression of this protein has an important function in a variety of organs.
      Title: Differential tissue distribution of the Invs gene product inversin.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC141481

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within animal organ development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic heart tube left/right pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pancreas development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to ciliary inversin compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein localization to ciliary inversin compartment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary inversin compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary inversin compartment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    inversin
    Names
    inversion of embryo turning protein
    nephrocystin 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001421128.1 → NP_001408057.1  inversin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL807247

    2. NM_001421129.1 → NP_001408058.1  inversin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL807247, AL954194, BX510363

    3. NM_010569.5 → NP_034699.3  inversin isoform 1

      See identical proteins and their annotated locations for NP_034699.3

      Status: VALIDATED

      Source sequence(s)
      AL807247, AL954194, BX510363
      Consensus CDS
      CCDS18166.1
      UniProtKB/Swiss-Prot
      O88849, O89019
      UniProtKB/TrEMBL
      A2AM57
      Related
      ENSMUSP00000030029.4, ENSMUST00000030029.10
      Conserved Domains (5) summary
      cd00204
      Location:384 → 509
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:427 → 517
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:185 → 240
      Ank_4; Ankyrin repeats (many copies)
      pfam15662
      Location:595 → 757
      SPATA3; Spermatogenesis-associated protein 3 family
      sd00045
      Location:356 → 387
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_185246.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL807247, AL954194, BX510363

    2. NR_185247.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL807247, AL954194, BX510363

    3. NR_185248.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL807247, AL954194, BX510363

    4. NR_185249.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL807247, AL954194, BX510363

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      48279707..48431956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163736.1 → XP_036019629.1  inversin isoform X2

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (5) summary
      PHA02876
      Location:59 → 420
      PHA02876; ankyrin repeat protein; Provisional
      PHA03307
      Location:617 → 890
      PHA03307; transcriptional regulator ICP4; Provisional
      COG0666
      Location:337 → 543
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:360 → 391
      ANK; ANK repeat [structural motif]
      cd21090
      Location:918 → 964
      C11orf65; chromosome 11 open reading frame 65 and homologs

    2. XM_006537626.4 → XP_006537689.1  inversin isoform X1

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (5) summary
      PHA02876
      Location:59 → 420
      PHA02876; ankyrin repeat protein; Provisional
      PHA03307
      Location:617 → 890
      PHA03307; transcriptional regulator ICP4; Provisional
      sd00045
      Location:360 → 391
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:18 → 68
      Ank_4; Ankyrin repeats (many copies)
      cl39094
      Location:340 → 558
      Ank_2; Ankyrin repeats (3 copies)

    3. XM_006537634.3 → XP_006537697.1  inversin isoform X10

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (6) summary
      PHA02876
      Location:59 → 420
      PHA02876; ankyrin repeat protein; Provisional
      smart00015
      Location:752 → 773
      IQ; Calmodulin-binding motif
      sd00045
      Location:360 → 391
      ANK; ANK repeat [structural motif]
      pfam09422
      Location:593 → 699
      WTX; WTX protein
      pfam13637
      Location:18 → 68
      Ank_4; Ankyrin repeats (many copies)
      cl39094
      Location:340 → 558
      Ank_2; Ankyrin repeats (3 copies)

    4. XM_006537635.3 → XP_006537698.1  inversin isoform X11

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (6) summary
      PHA02876
      Location:59 → 416
      PHA02876; ankyrin repeat protein; Provisional
      smart00015
      Location:748 → 769
      IQ; Calmodulin-binding motif
      sd00045
      Location:356 → 387
      ANK; ANK repeat [structural motif]
      pfam09422
      Location:589 → 695
      WTX; WTX protein
      pfam13637
      Location:18 → 68
      Ank_4; Ankyrin repeats (many copies)
      cl39094
      Location:336 → 554
      Ank_2; Ankyrin repeats (3 copies)

    5. XM_006537629.4 → XP_006537692.1  inversin isoform X4

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (5) summary
      PHA02876
      Location:59 → 406
      PHA02876; ankyrin repeat protein; Provisional
      PHA03307
      Location:603 → 876
      PHA03307; transcriptional regulator ICP4; Provisional
      sd00045
      Location:346 → 377
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:18 → 68
      Ank_4; Ankyrin repeats (many copies)
      cl39094
      Location:326 → 544
      Ank_2; Ankyrin repeats (3 copies)

    6. XM_006537630.5 → XP_006537693.1  inversin isoform X5

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (4) summary
      PHA03095
      Location:32 → 365
      PHA03095; ankyrin-like protein; Provisional
      PHA03307
      Location:561 → 834
      PHA03307; transcriptional regulator ICP4; Provisional
      COG0666
      Location:281 → 487
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:304 → 335
      ANK; ANK repeat [structural motif]

    7. XM_006537632.5 → XP_006537695.1  inversin isoform X7

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (4) summary
      PHA03095
      Location:32 → 361
      PHA03095; ankyrin-like protein; Provisional
      PHA03307
      Location:557 → 830
      PHA03307; transcriptional regulator ICP4; Provisional
      sd00045
      Location:300 → 331
      ANK; ANK repeat [structural motif]
      cl39094
      Location:280 → 498
      Ank_2; Ankyrin repeats (3 copies)

    8. XM_006537631.5 → XP_006537694.1  inversin isoform X6

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (5) summary
      PHA02876
      Location:59 → 494
      PHA02876; ankyrin repeat protein; Provisional
      PHA03307
      Location:559 → 832
      PHA03307; transcriptional regulator ICP4; Provisional
      sd00045
      Location:302 → 333
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:18 → 68
      Ank_4; Ankyrin repeats (many copies)
      cl39094
      Location:282 → 500
      Ank_2; Ankyrin repeats (3 copies)

    9. XM_030253261.2 → XP_030109121.1  inversin isoform X8

      UniProtKB/Swiss-Prot
      O88849, O89019
      Conserved Domains (5) summary
      PHA02876
      Location:59 → 490
      PHA02876; ankyrin repeat protein; Provisional
      PHA03307
      Location:555 → 828
      PHA03307; transcriptional regulator ICP4; Provisional
      sd00045
      Location:298 → 329
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:18 → 68
      Ank_4; Ankyrin repeats (many copies)
      cl39094
      Location:278 → 496
      Ank_2; Ankyrin repeats (3 copies)

    10. XM_006537633.3 → XP_006537696.1  inversin isoform X9

      See identical proteins and their annotated locations for XP_006537696.1

      UniProtKB/TrEMBL
      A0JNT0
      Conserved Domains (4) summary
      PTZ00322
      Location:143 → 231
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      PHA03307
      Location:521 → 794
      PHA03307; transcriptional regulator ICP4; Provisional
      COG0666
      Location:241 → 447
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:264 → 295
      ANK; ANK repeat [structural motif]

    11. XM_011249937.4 → XP_011248239.1  inversin isoform X9

      See identical proteins and their annotated locations for XP_011248239.1

      UniProtKB/TrEMBL
      A0JNT0
      Conserved Domains (4) summary
      PTZ00322
      Location:143 → 231
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      PHA03307
      Location:521 → 794
      PHA03307; transcriptional regulator ICP4; Provisional
      COG0666
      Location:241 → 447
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:264 → 295
      ANK; ANK repeat [structural motif]

    12. XM_006537637.5 → XP_006537700.1  inversin isoform X12

      See identical proteins and their annotated locations for XP_006537700.1

      UniProtKB/TrEMBL
      Q3TYB3
      Conserved Domains (4) summary
      PHA03307
      Location:287 → 560
      PHA03307; transcriptional regulator ICP4; Provisional
      COG0666
      Location:7 → 213
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:30 → 61
      ANK; ANK repeat [structural motif]
      cd21090
      Location:588 → 634
      C11orf65; chromosome 11 open reading frame 65 and homologs

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001281977.1: Suppressed sequence

      Description
      NM_001281977.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_001281978.1: Suppressed sequence

      Description
      NM_001281978.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O89019.2 GenPept UniProtKB/Swiss-Prot:O89019

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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