INVS (inversin)

2017-08-01  

Identity

HGNC
LOCATION
9q31.1
LOCUSID
ALIAS
INV,NPH2,NPHP2
FUSION GENES

Other Information

Locus ID:

NCBI: 27130
MIM: 243305
HGNC: 17870
Ensembl: ENSG00000119509

Variants:

dbSNP: 27130
ClinVar: 27130
TCGA: ENSG00000119509
COSMIC: INVS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119509ENST00000262456Q9Y283
ENSG00000119509ENST00000262457Q9Y283
ENSG00000119509ENST00000262457A0A024R153
ENSG00000119509ENST00000374921Q9Y283

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10066duloxetineChemicalClinicalAnnotationassociatedPD29407288
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD29407288

References

Pubmed IDYearTitleCitations
235594092013Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.82
237930292013ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.71
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
191771602009Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.31
272208462016Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia.20
165226552006Retinitis pigmentosa and renal failure in a patient with mutations in INVS.13
119414892002The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin.12
207981232010A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.8
166424422006Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.7
182183082008Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus.5

Citation

Dessen P

INVS (inversin)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57004/invs