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Aliases for INVS Gene

Aliases for INVS Gene

  • Inversin 2 3 3 5
  • Inversion Of Embryo Turning Homolog 3 4
  • Nephrocystin-2 3 4
  • NPHP2 3 4
  • INV 3 4
  • Nephronophthisis 2 (Infantile) 2
  • Inversion Of Embryonic Turning 3
  • Nephrocystin 2 2
  • NPH2 3

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 Nephronophthisis 16. Among its related pathways are Wnt Signaling Pathway and Pluripotency. GO annotations related to this gene include calmodulin binding. An important paralog of this gene is ANK2.

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

Additional gene information for INVS Gene

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

Genomics for INVS Gene

Regulatory Elements for INVS Gene

Enhancers for INVS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H100351 1.1 ENCODE 26.7 +253.5 253508 2 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 ZNF207 TEX10 INVS STX17 GC09P100306
GH09H100144 1.2 FANTOM5 ENCODE 22.4 +46.6 46590 1 HDAC1 ARNT CHAMP1 TCF12 ZBTB2 USF2 ZNF592 MEF2D MBD2 NFIC INVS STX17 RN7SL75P ERP44 GC09P100140 NANOGP5
GH09H099257 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -840.0 -840035 3 PKNOX1 ATF1 ZBTB40 YY1 ZNF766 CEBPB USF2 REST HDAC8 ZNF592 INVS SEC61B ALG2 STX17 KRT8P11 GC09P099237 RN7SKP225
GH09H099301 0.9 ENCODE 21.3 -796.9 -796948 0 ATF1 ZNF766 GATA2 ELK1 EGR1 CAVIN1 ZBTB11 CEBPB USF2 REST KRT8P11 STX17 INVS RN7SKP225
GH09H100209 1 Ensembl ENCODE 17.8 +111.1 111079 1 HDAC1 TBP PKNOX1 ATF1 IRF2 ARNT BATF MTA3 POLR2A GATA2 INVS STX17 RN7SL75P ERP44 NR4A3 LOC101928438 MSANTD3 MSANTD3-TMEFF1 TMEFF1 GC09P100176
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around INVS on UCSC Golden Path with GeneCards custom track

Promoters for INVS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000238865 -185 2401 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 SP3

Genomic Location for INVS Gene

Chromosome:
9
Start:
100,099,185 bp from pter
End:
100,338,617 bp from pter
Size:
239,433 bases
Orientation:
Plus strand

Genomic View for INVS Gene

Genes around INVS on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for INVS Gene

Other Protein References for INVS Gene

No data available for DME Specific Peptides for INVS Gene

Domains & Families for INVS Gene

Gene Families for INVS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 :
  • 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.
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.
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).

Phenotypes From GWAS Catalog for INVS Gene

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

Human Phenotype Ontology for INVS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INVS gene
Compartment Confidence
cytoskeleton 4
nucleus 4
cytosol 3
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with INVS: view

Pathways & Interactions for INVS Gene

SuperPathway Contained pathways
1 Wnt Signaling Pathway and Pluripotency
genes like me logo Genes that share pathways with INVS: view

Pathways by source for INVS Gene

1 KEGG pathway for INVS Gene

SIGNOR curated interactions for INVS Gene

Inactivates:

Gene Ontology (GO) - Biological Process for INVS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0090090 negative regulation of canonical Wnt signaling pathway IDA 18371931
genes like me logo Genes that share ontologies with INVS: view

Drugs & Compounds for INVS Gene

(3) Drugs for INVS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with INVS: view

Transcripts for INVS Gene

Unigene Clusters for INVS Gene

Inversin:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for INVS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INVS Gene

This gene is overexpressed in Cervix (65.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for INVS Gene



Protein tissue co-expression partners for INVS Gene

NURSA nuclear receptor signaling pathways regulating expression of INVS Gene:

INVS

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.

Evidence on tissue expression from TISSUES for INVS Gene

  • Kidney(4.5)
  • Muscle(4.1)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for INVS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • pituitary gland
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • liver
  • pancreas
Pelvis:
  • placenta
  • urinary bladder
  • uterus
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with INVS: view

Primer Products

No data available for 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 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia INVS 33 34
  • 89 (n)
cow
(Bos Taurus)
Mammalia INVS 33 34
  • 88.55 (n)
mouse
(Mus musculus)
Mammalia Invs 33 16 34
  • 81.25 (n)
rat
(Rattus norvegicus)
Mammalia Invs 33
  • 81.04 (n)
oppossum
(Monodelphis domestica)
Mammalia INVS 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INVS 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves INVS 33 34
  • 68.2 (n)
lizard
(Anolis carolinensis)
Reptilia INVS 34
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398717 33
zebrafish
(Danio rerio)
Actinopterygii invs 33 34
  • 65.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta nompC 34
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mlt-4 33 34
  • 44.36 (n)
T28D6.4 35
  • 29 (a)
ZC15.7 35
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 11 (a)
ManyToMany
Species where no ortholog for INVS was found in the sources mined by GeneCards:
  • 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
rs121964995 Pathogenic, Nephronophthisis 2 (NPHP2) [MIM:602088] 100,264,835(+) AGCTT(C/T)GCATT nc-transcript-variant, reference, missense
VAR_022822 Nephronophthisis 2 (NPHP2) [MIM:602088]
rs121964994 Pathogenic 100,284,342(+) ACAAA(C/T)GAAAA nc-transcript-variant, reference, stop-gained
rs200844390 Pathogenic 100,292,952(+) AGCTC(A/C/T)GACTG nc-transcript-variant, reference, stop-gained
rs267607185 Pathogenic 100,292,976(+) GAGAA(A/C/G/T)GAAGG nc-transcript-variant, reference, synonymous-codon, missense, stop-gained

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

Variant ID Type Subtype PubMed ID
esv2669728 CNV deletion 23128226
esv2738835 CNV deletion 23290073
esv2738836 CNV deletion 23290073
esv2738837 CNV deletion 23290073
esv2761274 CNV loss 21179565
esv3545201 CNV deletion 23714750
esv3621228 CNV loss 21293372
nsv1048674 CNV gain 25217958
nsv1144285 CNV deletion 24896259
nsv968739 CNV duplication 23825009
nsv968740 CNV duplication 23825009

Variation tolerance for INVS Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INVS Gene

Human Gene Mutation Database (HGMD)
INVS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INVS

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

Disorders for INVS Gene

MalaCards: The human disease database

(19) MalaCards diseases for INVS Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 2, infantile
  • nephronophthisis 2
nephronophthisis 16
  • nephronophthisis 2
nephronophthisis
  • medullary cystic disease
senior-loken syndrome-1
  • senior-loken syndrome
situs inversus
  • complete transposition
- elite association - COSMIC cancer census association via MalaCards
Search INVS in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for INVS

Genetic Association Database (GAD)
INVS
Human Genome Epidemiology (HuGE) Navigator
INVS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INVS
genes like me logo Genes that share disorders with INVS: view

No data available for Genatlas for INVS Gene

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 EA … Hildebrandt F (Nature genetics 2003) 2 3 4 22 45 60
  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 (American journal of human genetics 2008) 3 4 22 60
  3. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. (PMID: 23793029) Hoff S … Lienkamp SS (Nature genetics 2013) 3 4 60
  4. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L … Jackson PK (Cell 2011) 3 4 60
  5. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. (PMID: 19177160) Tory K … Salomon R (Kidney international 2009) 3 22 60

Products for INVS Gene

Sources for INVS Gene

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