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Gene : INVS Homo sapiens

Name  ? inversin Cytological Location  9q31.1
Brief Description  inversin
Description  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]
  • synonyms:
  • NM_014425,
  • nephronophthisis 2 (infantile),
  • NPHP2,
  • INV,
  • AF039217,
  • nephrocystin 2,
  • NPH2,
  • NPHP2,
  • INVS,
  • OTTHUMG00000020364,
  • uc004bap.3,
  • HGNC:17870
  • identifiers:
  • 27130,
  • ENSG00000119509,
  • INVS

Genome feature

Region: gene ? Length: 202991  
Location: 9:100099185-100302175 Cyto location: 9q31.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3756 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results