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Aliases for INVS Gene

Aliases for INVS Gene

  • Inversin 2 3
  • NPHP2 3 4 6
  • INV 3 4 6
  • Inversion Of Embryo Turning Homolog 3 4
  • Nephrocystin-2 3 4
  • NPH2 3 6
  • Nephronophthisis 2 (Infantile) 2
  • Inversion Of Embryonic Turning 3
  • Nephrocystin 2 2

External Ids for INVS Gene

Previous HGNC Symbols for INVS Gene

  • NPHP2

Previous GeneCards Identifiers for INVS Gene

  • GC09P093661
  • GC09P094605
  • GC09P096318
  • GC09P098241
  • GC09P099941
  • GC09P101901
  • GC09P102861
  • GC09P072460

Summaries for INVS Gene

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, infantile and infantile nephronophthisis. GO annotations related to this gene include calmodulin binding. An important paralog of this gene is ANKRD52.

UniProtKB/Swiss-Prot for INVS Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INVS Gene

Genomics for INVS Gene

Regulatory Elements for INVS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for INVS Gene

Start:
100,099,185 bp from pter
End:
100,301,626 bp from pter
Size:
202,442 bases
Orientation:
Plus strand

Genomic View for INVS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for INVS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INVS Gene

Proteins for INVS Gene

  • Protein details for INVS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y283-INVS_HUMAN
    Recommended name:
    Inversin
    Protein Accession:
    Q9Y283
    Secondary Accessions:
    • A2A2Y2
    • Q2NKL0
    • Q5W0T6
    • Q8IVX8
    • Q9BRB9
    • Q9Y488
    • Q9Y498

    Protein attributes for INVS Gene

    Size:
    1065 amino acids
    Molecular mass:
    117826 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD02131.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH41665.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for INVS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INVS Gene

Proteomics data for INVS Gene at MOPED

Post-translational modifications for INVS Gene

Other Protein References for INVS Gene

No data available for DME Specific Peptides for INVS Gene

Domains for INVS Gene

Gene Families for INVS Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for INVS Gene

Suggested Antigen Peptide Sequences for INVS Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y283

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.
  • Contains 2 IQ domains.
Similarity:
  • Contains 16 ANK repeats.
genes like me logo Genes that share domains with INVS: view

Function for INVS Gene

Molecular function for INVS Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for INVS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18371931
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with INVS: view
genes like me logo Genes that share phenotypes with INVS: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for INVS Gene

Localization for INVS Gene

Subcellular locations from UniProtKB/Swiss-Prot for INVS Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Membrane; Peripheral membrane protein. Nucleus. 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
Jensen Localization Image for INVS Gene COMPARTMENTS Subcellular localization image for INVS gene
Compartment Confidence
cytoskeleton 3
cytosol 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for INVS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
GO:0005874 microtubule IEA --
GO:0005929 cilium --
genes like me logo Genes that share ontologies with INVS: view

Pathways for INVS Gene

SuperPathways for INVS Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for INVS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0009791 post-embryonic development IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0031016 pancreas development IEA --
GO:0048513 organ development --
genes like me logo Genes that share ontologies with INVS: view

No data available for Pathways by source for INVS Gene

Compounds for INVS Gene

(1) HMDB Compounds for INVS Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Novoseek inferred chemical compound relationships for INVS Gene

Compound -log(P) Hits PubMed IDs
sucrose 10.4 1
iron 0 1
genes like me logo Genes that share compounds with INVS: view

Transcripts for INVS Gene

Unigene Clusters for INVS Gene

Inversin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for INVS

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for INVS

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for INVS Gene

No ASD Table

Relevant External Links for INVS Gene

GeneLoc Exon Structure for
INVS
ECgene alternative splicing isoforms for
INVS

Expression for INVS Gene

mRNA expression in normal human tissues for INVS Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for INVS Gene

SOURCE GeneReport for Unigene cluster for INVS Gene Hs.558477

mRNA Expression by UniProt/SwissProt for INVS Gene

Q9Y283-INVS_HUMAN
Tissue specificity: Widely expressed. Strongly expressed in the primary cilia of renal tubular cells.
genes like me logo Genes that share expressions with INVS: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for INVS Gene

Orthologs for INVS Gene

This gene was present in the common ancestor of animals.

Orthologs for INVS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INVS 35
  • 99.56 (n)
  • 99.34 (a)
INVS 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia INVS 35
  • 88.55 (n)
  • 87.49 (a)
INVS 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INVS 35
  • 89 (n)
  • 88.72 (a)
INVS 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Invs 35
  • 81.25 (n)
  • 81.4 (a)
Invs 16
Invs 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INVS 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INVS 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Invs 35
  • 81.04 (n)
  • 82.34 (a)
chicken
(Gallus gallus)
Aves INVS 35
  • 68.2 (n)
  • 67.8 (a)
INVS 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INVS 36
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398717 35
zebrafish
(Danio rerio)
Actinopterygii invs 35
  • 65.38 (n)
  • 68.64 (a)
invs 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nompC 36
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mlt-4 35
  • 44.36 (n)
  • 33.08 (a)
mlt-4 36
  • 24 (a)
OneToOne
T28D6.4 37
  • 29 (a)
ZC15.7 37
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 11 (a)
ManyToMany
Species with no ortholog for INVS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for INVS Gene

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

Paralogs for INVS Gene

Paralogs for INVS Gene

genes like me logo Genes that share paralogs with INVS: view

Variants for INVS Gene

Sequence variations from dbSNP and Humsavar for INVS Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs846751 -- 100,138,283(+) TGCCT(A/G)TAATC intron-variant
rs846752 -- 100,172,838(+) TATTC(C/G)ACCCA intron-variant
rs846753 -- 100,166,164(+) AATTT(A/G)TCATT intron-variant
rs846754 -- 100,119,173(+) ctttg(A/T)tcttt intron-variant
rs846755 -- 100,119,495(+) gcagt(C/G)aaggc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for INVS Gene

Variant ID Type Subtype PubMed ID
nsv893623 CNV Gain 21882294
esv2669728 CNV Deletion 23128226
esv2738835 CNV Deletion 23290073
esv2738836 CNV Deletion 23290073
esv2738837 CNV Deletion 23290073

Relevant External Links for INVS Gene

HapMap Linkage Disequilibrium report
INVS
Human Gene Mutation Database (HGMD)
INVS
Locus Specific Mutation Databases (LSDB)
INVS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INVS Gene

Disorders for INVS Gene

(1) OMIM Diseases for INVS Gene (243305)

UniProtKB/Swiss-Prot

INVS_HUMAN
  • 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. {ECO:0000269 PubMed:12872123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(9) Novoseek inferred disease relationships for INVS Gene

Disease -log(P) Hits PubMed IDs
nphp2 98.5 19
nphp1 93.8 8
cystic kidney disease 83.7 1
situs inversus 80.4 3
bardet-biedl syndrome 73.5 1

Relevant External Links for INVS

Genetic Association Database (GAD)
INVS
Human Genome Epidemiology (HuGE) Navigator
INVS
genes like me logo Genes that share disorders with INVS: view

Publications for INVS Gene

  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. (PMID: 12872123) Otto E.A. … Hildebrandt F. (Nat. Genet. 2003) 2 3 4 23 48
  2. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic- pancreatic dysplasia. (PMID: 18371931) Bergmann C. … Omran H. (Am. J. Hum. Genet. 2008) 3 4 23
  3. Retinitis pigmentosa and renal failure in a patient with mutations in INVS. (PMID: 16522655) O'Toole J.F. … Hildebrandt F. (Nephrol. Dial. Transplant. 2006) 3 23
  4. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. (PMID: 19177160) Tory K. … Salomon R. (Kidney Int. 2009) 3 23
  5. Analysis of multiple Invs transcripts in mouse and MDCK cells. (PMID: 15533716) Ward H.H. … Phillips C. (Genomics 2004) 3 23

Products for INVS Gene

Sources for INVS Gene

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