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INVS Gene

protein-coding   GIFtS: 57
GCID: GC09P102861

Inversin

(Previous name: nephronophthisis 2 (infantile))
(Previous symbol: NPHP2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
inversin1 2     Nephrocystin 21
NPHP21 2 3 5     Nephronophthisis 2 (Infantile)1
INV2 3 5     Inversion Of Embryonic Turning2
Inversion Of Embryo Turning Homolog2 3     nephrocystin-22
NPH22 5     Nephrocystin-23

External Ids:    HGNC: 178701   Entrez Gene: 271302   Ensembl: ENSG000001195097   OMIM: 2433055   UniProtKB: Q9Y2833   

Export aliases for INVS gene to outside databases

Previous GC identifers: GC09P093661 GC09P094605 GC09P096318 GC09P098241 GC09P099941 GC09P101901 GC09P072460


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for INVS Gene:
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded
protein may function in renal tubular development and function, and in left-right axis determination. This
protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis
determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated
with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for
this gene. (provided by RefSeq, May 2012)

GeneCards Summary for INVS Gene:
INVS (inversin) is a protein-coding gene. Diseases associated with INVS include nephronophthisis 2, and nephronophthisis 2, infantile. GO annotations related to this gene include calmodulin binding. An important paralog of this gene is TNKS2.

UniProtKB/Swiss-Prot: INVS_HUMAN, Q9Y283
Function: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular
switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic
disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal
development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling.
Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8
(By similarity). Does not seem to be strictly required for ciliogenesis (By similarity)

Gene Wiki entry for INVS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the INVS gene promoter:
         AP-1   ATF-2   c-Jun   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINVS promoter sequence
   Search Chromatin IP Primers for INVS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INVS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31   Ensembl cytogenetic band:  9q31.1   HGNC cytogenetic band: 9q31

INVS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INVS gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P102861:  view genomic region     (about GC identifiers)

Start:
102,861,511 bp from pter      End:
103,063,426 bp from pter
Size:
201,916 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: INVS_HUMAN, Q9Y283 (See protein sequence)
Recommended Name: Inversin  
Size: 1065 amino acids; 117826 Da
Subunit: Binds calmodulin via its IQ domains. Interacts with APC2. Interacts with alpha-, beta-, and
gamma-catenin. Interacts with N-cadherin (CDH2). Interacts with microtubules (By similarity). Interacts with
NPHP1. Interacts with DVL1, PRICKLE (PRICKLE1 or PRICKLE2) and Strabismus (VANGL1 or VANGL2). Interacts with
IQCB1; the interaction likely requires additional interactors. Component of a complex containing at least ANKS6,
INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target
the complex to the proximal ciliary axoneme
Sequence caution: Sequence=AAD02131.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH41665.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Secondary accessions: A2A2Y2 Q2NKL0 Q5W0T6 Q8IVX8 Q9BRB9 Q9Y488 Q9Y498
Alternative splicing: 3 isoforms:  Q9Y283-1   Q9Y283-2   Q9Y283-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for INVS: NX_Q9Y283

Explore proteomics data for INVS at MOPED

Post-translational modifications: 

  • May be ubiquitinated via its interaction with APC2 (By similarity)1
  • Hydroxylated at Asn-75, most probably by HIF1AN1
  • Ubiquitination2 at Lys390
  • Modification sites at PhosphoSitePlus

  • See INVS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055240.2  NP_899068.1  

    ENSEMBL proteins: 
     ENSP00000262457   ENSP00000262456   ENSP00000364056   ENSP00000444454  

    INVS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for INVS
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    Novus Biologicals INVS Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for INVS

    INVS Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of INVS
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    Novus Biologicals INVS Antibody
    Abcam antibodies for INVS
    Cloud-Clone Corp. Antibodies for INVS
    Search ThermoFisher Antibodies for INVS
    Search LSBio for Antibodies for INVS

    INVS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for INVS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for INVS
    Cloud-Clone Corp. CLIAs for INVS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    3 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR000048 IQ_motif_EF-hand-BS
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y283

    ProtoNet protein and cluster: Q9Y283

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: INVS_HUMAN, Q9Y283
    Domain: The D-box 1 (destruction box 1) mediates the interaction with APC2, and may act as a recognition signal
    for degradation via the ubiquitin-proteasome pathway (By similarity)
    Similarity: Contains 16 ANK repeats
    Similarity: Contains 2 IQ domains


    INVS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INVS_HUMAN, Q9Y283
    Function: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular
    switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic
    disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal
    development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling.
    Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8
    (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18371931
    GO:0005516calmodulin binding IEA--
         
    INVS for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for INVS:
     Decreased Wnt reporter activit  High actin ratio cells  Increased S DNA content 

         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Invs):
     cardiovascular system  digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     renal/urinary system  respiratory system 

    INVS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INVS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for INVS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INVS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for INVS

    miRNA
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    Block miRNA regulation of human, mouse, rat INVS using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate INVS:
    hsa-miR-152 hsa-miR-148b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidINVS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for INVS
    Predesigned siRNA for gene silencing in human, mouse, rat INVS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for INVS

    Clone
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    OriGene clones in human, mouse for INVS (see all 13)
    OriGene ORF clones in mouse, rat for INVS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): INVS (NM_183245)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INVS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INVS

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for INVS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INVS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    INVS_HUMAN, Q9Y283: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cytoskeleton,
    spindle (By similarity). Membrane; Peripheral membrane protein (By similarity). Nucleus (By similarity). Cell
    projection, cilium. Note=Associates with several components of the cytoskeleton including ciliary, random and
    polarized microtubules. During mitosis, it is recruited to mitotic spindle. Frequently membrane-associated,
    membrane localization is dependent upon cell-cell contacts and is redistributed when cell adhesion is disrupted
    after incubation of the cell monolayer with low-calcium/EGTA medium
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol2
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005819spindle IEA--
    GO:0005874microtubule IEA--
    GO:0005929cilium IEA--

    INVS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including INVS: 
              Primary Cilia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for INVS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for INVS (Q9Y2831, 2, 3 ENSP000002624574) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B9D2Q9BPU91, 2, 3, ENSP000002435784EBI-751472,EBI-6958971 MINT-8201267 MINT-8201190 MINT-8201172 MINT-8201254 I2D: score=1 STRING: ENSP00000243578
    CALM3P621582, 3MINT-8200174 I2D: score=1 
    HIF1ANQ9NWT62, 3, ENSP000002991634MINT-68139 I2D: score=5 STRING: ENSP00000299163
    ZNF512BQ96KM62, 3MINT-60826 I2D: score=2 
    CALM1P621582, 3, ENSP000003494674MINT-8200174 I2D: score=1 STRING: ENSP00000349467
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0009791post-embryonic development IEA--
    GO:0016055Wnt signaling pathway IEA--
    GO:0031016pancreas development IEA--
    GO:0048513organ development ----

    INVS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for INVS

    1 HMDB Compound for INVS    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for INVS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sucrose 10.4 2 10552519 (1)
    iron 0 2 1385257 (1)



    INVS for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for INVS gene (2 alternative transcripts): 
    NM_014425.3  NM_183245.2  

    Unigene Cluster for INVS:

    Inversin
    Hs.558477  [show with all ESTs]
    Unigene Representative Sequence: BC063847
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262457(uc010mta.2 uc004bao.1 uc004bap.1 uc004baq.1 uc004bar.1 uc010mtb.1)
    ENST00000496467 ENST00000480309 ENST00000262456 ENST00000374921 ENST00000466647
    ENST00000460636 ENST00000541287(uc011lve.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat INVS using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate INVS:
    hsa-miR-152 hsa-miR-148b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidINVS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for INVS
    Predesigned siRNA for gene silencing in human, mouse, rat INVS
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): INVS (NM_183245)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INVS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INVS
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for INVS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INVS
      QuantiTect SYBR Green Assays in human, mouse, rat INVS
      QuantiFast Probe-based Assays in human, mouse, rat INVS

    Additional mRNA sequence: 

    AF039217.2 AF084367.1 AK304851.1 AK312795.1 BC006370.2 BC041665.1 BC056897.1 BC063847.1 
    BC072429.1 BC111761.1 BC112351.1 NR_051962.1 

    13 DOTS entries:

    DT.91689918  DT.210912  DT.75170510  DT.100019250  DT.100751517  DT.115451  DT.100032095  DT.307421 
    DT.121159833  DT.121159866  DT.100838042  DT.121159881  DT.449369 

    Selected AceView cDNA sequences (see all 73):

    BM681782 BP365911 AI421758 AA411470 BC072429 BQ020921 AI652253 BM468699 
    BF733033 CR610694 BC006370 AF084367 AI142391 CA312616 BC041665 NM_014425 
    AI675617 AA890523 NM_183245 AI653316 BX104595 AA580524 AI538178 CB141673 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    INVS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    INVS Expression
    About this image

    INVS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INVS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558477

    UniProtKB/Swiss-Prot: INVS_HUMAN, Q9Y283
    Tissue specificity: Widely expressed. Strongly expressed in the primary cilia of renal tubular cells

        Pathway & Disease-focused RT2 Profiler PCR Array including INVS: 
              Primary Cilia in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INVS
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INVS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for INVS gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Invs1 , 5 inversin1, 5 81.25(n)1
    81.4(a)1
      4 (26.11 cM)5
    163481  NM_010569.41  NP_034699.31 
     482797605 
    chicken
    (Gallus gallus)
    Aves INVS1 inversin 68.2(n)
    67.8(a)
      395234  NM_204551.1  NP_989882.1 
    lizard
    (Anolis carolinensis)
    Reptilia INVS6
    inversin
    62(a)
    1 ↔ 1
    6(55027608-55101344)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3987172 inv2 73.16(n)    AF321229.1 
    zebrafish
    (Danio rerio)
    Actinopterygii invs2 inversin 75.13(n)   245946  AF465261.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nompC6
    no mechanoreceptor potential C
    10(a)
    1 → many
    2L(5342321-5365760)
    worm
    (Caenorhabditis elegans)
    Secernentea T28D6.43
    mlt-41
    Ank repeat (8 domains)3
    mlt-41
    29(a)
    (best of 2)3
    44.36(n)1
    33.08(a)1
      III(11432134-11437680)3
    1803291  NM_075511.51  NP_507912.21 


    ENSEMBL Gene Tree for INVS (if available)
    TreeFam Gene Tree for INVS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for INVS gene
    TNKS22  ANK32  ANK12  ANKRD522  TNKS2  ANKRD652  ANKFY12  ANKRD502  
    ANKRD282  ANK22  
    Selected SIMAP similar genes for INVS using alignment to 3 protein entries:     INVS_HUMAN (see all proteins) (see all similar genes):
    HACE1    ANKRD44    RAI14    ANKRD6    ANKRD46    ANKRD55
    FANK1    ANKRD54    OSBPL1A    PSMD10    ANK2    CDKN2C
    PPP1R12B    ANK3    ANKRD42    DKFZp761E1322    GABPB1    MTPN

    INVS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for INVS (see all 3462)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0228224
    Nephronophthisis 2 (NPHP2)4--see VAR_0228222 P R mis40--------
    VAR_0228234
    Nephronophthisis 2 (NPHP2)4--see VAR_0228232 L S mis40--------
    rs2008443901,2
    Cpathogenic1103069057(+) AGCTCC/TGACTG 5 R * nc-transcript-variantstg10--------
    rs2005043521,2
    C--72462056(+) TATATA/GTACAT 3 -- int10--------
    rs596372861,2
    C--72462059(+) ATGTAT/CATATA 3 -- int11Minor allele frequency- C:0.00NA 2
    rs715037291,2
    C,F--72462083(+) ATGTAC/TATATA 3 -- int12Minor allele frequency- T:0.50NA 4
    rs570321911,2
    --72462133(+) ATGTAC/TATATA 3 -- int10--------
    rs1926314231,2
    --72462157(+) ATGTAC/TATATA 3 -- int10--------
    rs1846608621,2
    --72462178(+) TATATA/GTACAT 3 -- int10--------
    rs1883300801,2
    --72462202(+) TATATA/GTACAT 3 -- int10--------

    HapMap Linkage Disequilibrium report for INVS (102861511 - 103063426 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for INVS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738837CNV Deletion23290073
    esv2669728CNV Deletion23128226
    esv2738835CNV Deletion23290073
    esv2738836CNV Deletion23290073
    nsv893623CNV Gain21882294

    Human Gene Mutation Database (HGMD): INVS
    Locus Specific Mutation Databases (LSDB): INVS

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing INVS
    DNA2.0 Custom Variant and Variant Library Synthesis for INVS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 243305   
    OMIM disorders: 602088  
    UniProtKB/Swiss-Prot: INVS_HUMAN, Q9Y283
  • Nephronophthisis 2 (NPHP2) [MIM:602088]: An autosomal recessive disorder resulting in end-stage renal
    disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged
    kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also
    display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary
    cysts and thickened tubular basement membranes, and by the presence of cortical microcysts. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for INVS (see all 33):    
    About MalaCards
    nephronophthisis 2    nephronophthisis 2, infantile    infantile autosomal recessive medullary cystic kidney disease    renal-hepatic-pancreatic dysplasia
    nephronophthisis    situs inversus    west nile encephalitis    senior-loken syndrome 1
    cystic kidney    dextrocardia    senior-loken syndrome    joubert syndrome and related disorders
    interstitial nephritis    joubert syndrome    asphyxiating thoracic dystrophy    kidney disease
    was-related disorders    strabismus    polycystic kidney disease    bardet-biedl syndrome

    5 diseases from the University of Copenhagen DISEASES database for INVS:
    Nephronophthisis     Situs inversus     Cystic kidney     Asphyxiating thoracic dystrophy
    Polycystic kidney disease

    INVS for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for INVS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphp2 98.5 44 19177160 (5), 17855640 (2), 18076122 (2), 18218308 (2) (see all 10)
    nphp1 93.8 12 17855640 (1), 18076122 (1), 12872123 (1), 18607645 (1) (see all 8)
    cystic kidney disease 83.7 5 18218308 (1)
    situs inversus 80.4 6 12872123 (1), 18218308 (1), 11331972 (1)
    bardet-biedl syndrome 73.5 1 17429050 (1)
    yersinia infections 72.6 1 9257849 (1)
    polycystic kidney diseases 72.5 3 12221118 (2), 17429050 (1)
    retinitis pigmentosa 71.6 1 16522655 (1)
    renal failure chronic 62.3 1 17216245 (1)

    Genetic Association Database (GAD): INVS
    Human Genome Epidemiology (HuGE) Navigator: INVS (1 document)

    Export disorders for INVS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for INVS gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with INVS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. (PubMed id 12872123)1, 2, 3, 4, 9 Otto E.A.... Hildebrandt F. (Nat. Genet. 2003)
    2. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic- pancreatic dysplasia. (PubMed id 18371931)1, 2, 9 Bergmann C.... Omran H. (Am. J. Hum. Genet. 2008)
    3. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. (PubMed id 23793029)1, 2 Hoff S....Lienkamp S.S. (Nat. Genet. 2013)
    4. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. (PubMed id 15852005)1, 2 Simons M.... Walz G. (Nat. Genet. 2005)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin. (PubMed id 11941489)1, 2 Morgan D.... Strachan T. (Hum. Genet. 2002)
    8. Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. (PubMed id 18218308)1, 9 Okada M....Takemura T. (Clin. Nephrol. 2008)
    9. Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells. (PubMed id 12221118)1, 9 NA1rnberger J....Phillips C.L. (Mol. Biol. Cell 2002)
    10. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. (PubMed id 19177160)1, 9 Tory K....Salomon R. (Kidney Int. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 27130 HGNC: 17870 AceView: INVS Ensembl:ENSG00000119509 euGenes: HUgn27130
    ECgene: INVS H-InvDB: INVS

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for INVS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=INVS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for INVS gene:
    Search GeneIP for patents involving INVS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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