INVS
entrez
27130
canonical
uniprot
Q9Y283
canonical
ensembl
ENSG00000119509
resolver
ensp
ENSP00000262457
resolver
genesymbol
INVS
resolver
genesymbol_syn
INV
resolver
genesymbol_syn
NPHP2
resolver
hgnc
HGNC:17870
resolver
uniprot
A2A2Y2
resolver
uniprot
Q2M1I4
resolver
uniprot
Q2NKL0
resolver
uniprot
Q5W0T6
resolver
uniprot
Q8IVX8
resolver
uniprot
Q9BRB9
resolver
uniprot
Q9Y488
resolver
uniprot
Q9Y498
resolver
uniprot_entry
INVS_HUMAN
resolver
uniprot_entry
Q2M1I4_HUMAN
resolver
uniprot_sec
A2A2Y2
resolver
uniprot_sec
Q2NKL0
resolver
uniprot_sec
Q5W0T6
resolver
uniprot_sec
Q8IVX8
resolver
uniprot_sec
Q9BRB9
resolver
uniprot_sec
Q9Y488
resolver
uniprot_sec
Q9Y498
resolver
amino_acid_sequence
MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKEDQFGRTPLMYCVLADRLDCADALLKAGADVNKTDHSQRTALHLAAQKGNYRFMKLLLTRRANWMQKDLEEMTPLHLTTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDVEGKIPLHWAANHKDPSAVHTVRCILDAAPTESLLNWQDYEGRTPLHFAVADGNVTVVDVLTSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKSGTIPSDSQGATPLHYAAQSNFAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDINMADKYGGTALHAAALSGHVSTVKLLLENNAQVDATDVMKHTPLFRACEMGHKDVIQTLIKGGARVDLVDQDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTPLQCAAYGGYINCMAVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERYTPLDYALLGERHEVIQFMLEHGALSIAAIQDIAAFKIQAVYKGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEENKRKEAEQQKGRRSPDSCRPQALPCLPSTQDVPSRQSRAPSKQPPAGNVAQGPEPRDSRGSPGGSLGGALQKEQHVSSDLQGTNSRRPNETAREHSKGQSACVHFRPNEGSDGSRHPGVPSVEKSRGETAGDERCAKGKGFVKQPSCIRVAGPDEKGEDSRRAAASLPPHDSHWKPSRRHDTEPKAKCAPQKRRTQELRGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKLTGGLYSHLPQSTEELRSGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRLQIIQRERRRKELFRKKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTALLLQVWRKELELKFPQTTAVSKAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSVKASSVLRLNSVSNLQCIHLLENSGRSKNFSYNLQSATQPKNKTKP
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250, ECO:0000269|PubMed:15852005, ECO:0000269|PubMed:18371931}.
uniprot
proteins
mass_dalton
117826
uniprot
proteins
post_translational_modification
PTM: May be ubiquitinated via its interaction with APC2. {ECO:0000250}.; PTM: Hydroxylated at Asn-75, most probably by HIF1AN. {ECO:0000269|PubMed:23793029}.
uniprot
proteins
pubmed
11935322
uniprot
proteins
pubmed
11941489
uniprot
proteins
pubmed
12872123
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15852005
uniprot
proteins
pubmed
18371931
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23793029
uniprot
proteins
sequence_length
1065
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Nucleus {ECO:0000250}. Cell projection, cilium {ECO:0000269|PubMed:12872123}. 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.
uniprot
proteins