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INVS (inversin)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27130
Gene nameGene Name - the full gene name approved by the HGNC.
Inversin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
INVS
SynonymsGene synonyms aliases
INV, NPH2, NPHP2
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.1
SummarySummary of gene provided in NCBI Entrez 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 nephrocyst
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18371931, 21565611, 21602787
GO:0005516 Function Calmodulin binding IEA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005819 Component Spindle IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Wnt signaling pathway  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension Hypertensive disease rs13306026, rs13333226
Kidney disease Chronic kidney disease stage 5 rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Unknown
Disease name Disease term dbSNP ID References
Ciliopathies Ciliopathies
Congenital hepatic fibrosis Hepatic Fibrosis, Congenital
Pulmonary hypoplasia Congenital hypoplasia of lung rs1569032634
Disorder of eye Disorder of eye

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