Gene Gene information from NCBI Gene database.
Entrez ID 27130
Gene name Inversin
Gene symbol INVS
Synonyms (NCBI Gene)
INVNPH2NPHP2
Chromosome 9
Chromosome location 9q31.1
Summary 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 nephrocyst
SNPs SNP information provided by dbSNP.
35
SNP ID Visualize variation Clinical significance Consequence
rs1052867 T>A,C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs114056499 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, synonymous variant, 5 prime UTR variant
rs115042730 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs115754570 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs115937161 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
121
miRTarBase ID miRNA Experiments Reference
MIRT531898 hsa-miR-511-3p HITS-CLIP 23313552
MIRT531897 hsa-miR-190a-5p HITS-CLIP 23313552
MIRT531896 hsa-miR-190b HITS-CLIP 23313552
MIRT531895 hsa-miR-92b-5p HITS-CLIP 23313552
MIRT531894 hsa-miR-3689a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IBA
GO:0005515 Function Protein binding IPI 18371931, 21565611, 21602787, 29959317, 32814053
GO:0005516 Function Calmodulin binding IEA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
243305 17870 ENSG00000119509
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y283
Protein name Inversin (Inversion of embryo turning homolog) (Nephrocystin-2)
Protein 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 degradati
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 18 111 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 85 179 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 173 252 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 246 317 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 311 387 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 394 486 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 460 554 Ankyrin repeats (3 copies) Repeat
PF00612 IQ 557 576 IQ calmodulin-binding motif Motif
PF00612 IQ 917 937 IQ calmodulin-binding motif Motif
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Strongly expressed in the primary cilia of renal tubular cells. {ECO:0000269|PubMed:11935322, ECO:0000269|PubMed:12872123}.
Sequence
MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKEDQFGRTPLMYCVLADR
LDCADALLKAGADVNKTDHSQRTA
LHLAAQKGNYRFMKLLLTRRANWMQKDLEEMTPLHL
TTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDV
EGKIPLHWAANHKDPSAVHTVRCILDAAPTESLLNWQDYEGRTPLHFAVADGNVTVVDVL
TSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKSGTIPSDSQGATPLHYAAQSN
FAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDINMADKYGGTA
LHAAALSGHVSTVKLLLENNAQVDATD
VMKHTPLFRACEMGHKDVIQTLIKGGARVDLVD
QDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTP
LQCAAYGGYINCMAVLMENNA
DPNIQD
KEGRTALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERYTPLDYALLGERHEVI
QFMLEHGALSIAAI
QDIAAFKIQAVYKGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEE
NKRKEAEQQKGRRSPDSCRPQALPCLPSTQDVPSRQSRAPSKQPPAGNVAQGPEPRDSRG
SPGGSLGGALQKEQHVSSDLQGTNSRRPNETAREHSKGQSACVHFRPNEGSDGSRHPGVP
SVEKSRGETAGDERCAKGKGFVKQPSCIRVAGPDEKGEDSRRAAASLPPHDSHWKPSRRH
DTEPKAKCAPQKRRTQELRGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKL
TGGLYSHLPQSTEELRSGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRL
QIIQRERRRKELFRKKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTAL
LLQVWRKELELKFPQTTAVSKAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSV
KASSVLRLNSVSNLQCIHLLENSGRSKNFSYNLQSATQPKNKTKP
Sequence length 1065
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Wnt signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1182
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Infantile nephronophthisis Pathogenic; Likely pathogenic rs1833004339, rs935629850, rs779545419, rs2118494165, rs777723411, rs777556837, rs773049314, rs2491244807, rs2490137922, rs121964994, rs267607185, rs200844390, rs753348470, rs2491192429, rs2491236702
View all (18 more)
RCV004762277
RCV002504632
RCV002488200
RCV001780423
RCV002497887
RCV005050522
RCV002482466
RCV003219185
RCV003225660
RCV000012737
RCV000012739
RCV000012740
RCV000012741
RCV003335871
RCV003335872
RCV005051296
RCV003486324
RCV005047705
RCV005871231
RCV005051350
RCV005047728
RCV005051357
RCV005356516
RCV005040546
RCV005040604
RCV005051413
RCV001644766
RCV002499336
RCV002507430
RCV000851309
RCV000851310
RCV002489535
RCV001281145
INVS-related disorder Likely pathogenic; Pathogenic rs773049314, rs267607185, rs200844390, rs753348470, rs368746630, rs1179816505 RCV003911056
RCV004752702
RCV003415689
RCV003934826
RCV003391578
RCV004753736
Nephronophthisis Pathogenic; Likely pathogenic rs1833004339, rs935629850, rs2118799345, rs779545419, rs757019335, rs2118781593, rs763565647, rs777723411, rs2118762244, rs777556837, rs1588145141, rs773049314, rs772917131, rs755549444, rs778745264
View all (68 more)
RCV001958795
RCV001378836
RCV001377905
RCV001380935
RCV001388144
RCV001917757
RCV001962975
RCV001949543
RCV001951326
RCV002046047
RCV002042073
RCV001876509
RCV003058437
RCV001852129
RCV003112865
RCV002584120
RCV002761253
RCV002829210
RCV002857405
RCV002852101
RCV002895021
RCV003031898
RCV003037949
RCV003055293
RCV003035766
RCV000234834
RCV000234833
RCV002518920
RCV000816190
RCV001851809
RCV000234825
RCV001382990
RCV003586512
RCV003586853
RCV003587082
RCV003587581
RCV003587474
RCV003587542
RCV003587543
RCV003587604
RCV003587605
RCV003587558
RCV003587702
RCV003587703
RCV003587616
RCV003587712
RCV003587867
RCV003587913
RCV003587966
RCV003748558
RCV003748596
RCV003748535
RCV003749200
RCV003749611
RCV003750106
RCV003750127
RCV003749967
RCV003747794
RCV003747898
RCV003748789
RCV003748820
RCV003748854
RCV003748912
RCV003749675
RCV003830939
RCV003831516
RCV003861123
RCV003874174
RCV003871774
RCV003880067
RCV003881828
RCV000638094
RCV000689190
RCV000687565
RCV000819646
RCV001855632
RCV003586219
RCV000817228
RCV000826209
RCV003748288
RCV001066092
RCV001034945
RCV001209172
RCV001242107
RCV002570439
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs201018893 RCV005893932
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign rs577372332 RCV005867086
Colon adenocarcinoma Benign; Likely benign rs201018893 RCV005893931
Familial cancer of breast Benign; Likely benign rs201018893 RCV005893930
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Biliary Atresia Associate 34750413
Carcinoma Non Small Cell Lung Associate 28618971
Carcinoma Renal Cell Associate 39596188
Ciliopathies Associate 21068128, 23559409
Colorectal Neoplasms Associate 24349560
Down Syndrome Associate 8644714
Glomerulonephritis IGA Inhibit 20485333
Inflammation Associate 39596188
Kidney Diseases Associate 28618971
Kidney Diseases Cystic Associate 28618971