Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	27130
Gene name Gene Name - the full gene name approved by the HGNC.	Inversin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	INVS
Synonyms (NCBI Gene) Gene synonyms aliases	INV, NPH2, NPHP2
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q31.1
Summary Summary 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

Show/Hide all(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
rs116314059	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs116606949	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs116686341	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs121964994	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs121964995	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs140255233	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs146901872	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs147041710	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs147112151	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs149315279	C>A,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs150001738	A>G,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs200546215	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200844390	C>A,T	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs267607185	C>A,G,T	Benign, pathogenic	Synonymous variant, stop gained, missense variant, coding sequence variant, non coding transcript variant
rs375416014	G>A	Likely-pathogenic	Splice donor variant
rs375753623	G>A,T	Uncertain-significance, pathogenic	Splice donor variant
rs376879175	C>A,T	Uncertain-significance, pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs751765105	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs753348470	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs755288504	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs755549444	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs769739938	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs878855332	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878855333	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs955421639	G>A	Likely-pathogenic	Splice donor variant
rs1322951938	T>C,G	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1425211517	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1564123602	->CAGA	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564193130	AT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1588153872	->C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all(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
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	23313552
MIRT531892	hsa-miR-3689e	HITS-CLIP	23313552
MIRT531891	hsa-miR-3689f	HITS-CLIP	23313552
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT531889	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	23824327
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	23824327
MIRT531892	hsa-miR-3689e	HITS-CLIP	23824327
MIRT531891	hsa-miR-3689f	HITS-CLIP	23824327
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT609044	hsa-miR-3161	HITS-CLIP	23824327
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	23824327
MIRT531889	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	24906430
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	24906430
MIRT531892	hsa-miR-3689e	HITS-CLIP	24906430
MIRT531891	hsa-miR-3689f	HITS-CLIP	24906430
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT609044	hsa-miR-3161	HITS-CLIP	24906430
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT531889	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT531898	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT531897	hsa-miR-190a-5p	PAR-CLIP	22012620
MIRT531896	hsa-miR-190b	PAR-CLIP	22012620
MIRT531895	hsa-miR-92b-5p	PAR-CLIP	22012620
MIRT531894	hsa-miR-3689a-5p	PAR-CLIP	22012620
MIRT531893	hsa-miR-3689b-5p	PAR-CLIP	22012620
MIRT531892	hsa-miR-3689e	PAR-CLIP	22012620
MIRT531891	hsa-miR-3689f	PAR-CLIP	22012620
MIRT531890	hsa-miR-4648	PAR-CLIP	22012620
MIRT531888	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT531889	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT531897	hsa-miR-190a-5p	HITS-CLIP	27418678
MIRT531897	hsa-miR-190a-5p	HITS-CLIP	27418678
MIRT531897	hsa-miR-190a-5p	HITS-CLIP	27418678
MIRT531896	hsa-miR-190b	HITS-CLIP	27418678
MIRT531896	hsa-miR-190b	HITS-CLIP	27418678
MIRT531896	hsa-miR-190b	HITS-CLIP	27418678
MIRT609044	hsa-miR-3161	HITS-CLIP	27418678
MIRT609044	hsa-miR-3161	HITS-CLIP	27418678
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT531892	hsa-miR-3689e	HITS-CLIP	27418678
MIRT531892	hsa-miR-3689e	HITS-CLIP	27418678
MIRT531892	hsa-miR-3689e	HITS-CLIP	27418678
MIRT531892	hsa-miR-3689e	HITS-CLIP	27418678
MIRT531891	hsa-miR-3689f	HITS-CLIP	27418678
MIRT531891	hsa-miR-3689f	HITS-CLIP	27418678
MIRT531891	hsa-miR-3689f	HITS-CLIP	27418678
MIRT531891	hsa-miR-3689f	HITS-CLIP	27418678
MIRT531898	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT531898	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT531898	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT531889	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT531889	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT531889	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT531889	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	27418678
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
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	23313552
MIRT531892	hsa-miR-3689e	HITS-CLIP	23313552
MIRT531891	hsa-miR-3689f	HITS-CLIP	23313552
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT531889	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	23824327
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	23824327
MIRT531892	hsa-miR-3689e	HITS-CLIP	23824327
MIRT531891	hsa-miR-3689f	HITS-CLIP	23824327
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT609044	hsa-miR-3161	HITS-CLIP	23824327
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	23824327
MIRT531889	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT531898	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT531897	hsa-miR-190a-5p	PAR-CLIP	22012620
MIRT531896	hsa-miR-190b	PAR-CLIP	22012620
MIRT531895	hsa-miR-92b-5p	PAR-CLIP	22012620
MIRT531894	hsa-miR-3689a-5p	PAR-CLIP	22012620
MIRT531893	hsa-miR-3689b-5p	PAR-CLIP	22012620
MIRT531892	hsa-miR-3689e	PAR-CLIP	22012620
MIRT531891	hsa-miR-3689f	PAR-CLIP	22012620
MIRT531890	hsa-miR-4648	PAR-CLIP	22012620
MIRT531888	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT531889	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT1068277	hsa-miR-3125	CLIP-seq
MIRT1068278	hsa-miR-3174	CLIP-seq
MIRT1068279	hsa-miR-33a	CLIP-seq
MIRT1068280	hsa-miR-33b	CLIP-seq
MIRT1068281	hsa-miR-3916	CLIP-seq
MIRT1068282	hsa-miR-4476	CLIP-seq
MIRT1068283	hsa-miR-4684-3p	CLIP-seq
MIRT1068284	hsa-miR-4691-5p	CLIP-seq
MIRT1068285	hsa-miR-4755-3p	CLIP-seq
MIRT1068286	hsa-miR-921	CLIP-seq
MIRT1068287	hsa-miR-3660	CLIP-seq
MIRT1068288	hsa-miR-4256	CLIP-seq
MIRT1068289	hsa-miR-4261	CLIP-seq
MIRT1068290	hsa-miR-4526	CLIP-seq
MIRT1068291	hsa-miR-494	CLIP-seq
MIRT1068292	hsa-miR-543	CLIP-seq
MIRT2016633	hsa-miR-510	CLIP-seq

Show/Hide all(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
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0042995	Component	Cell projection	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18371931
GO:1904108	Process	Protein localization to ciliary inversin compartment	IBA

MIM	HGNC	e!Ensembl
243305	17870	ENSG00000119509

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

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
LDCADALLKAGADVNKTDHSQRTALHLAAQKGNYRFMKLLLTRRANWMQKDLEEMTPLHL
TTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDV
EGKIPLHWAANHKDPSAVHTVRCILDAAPTESLLNWQDYEGRTPLHFAVADGNVTVVDVL
TSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKSGTIPSDSQGATPLHYAAQSN
FAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDINMADKYGGTA
LHAAALSGHVSTVKLLLENNAQVDATDVMKHTPLFRACEMGHKDVIQTLIKGGARVDLVD
QDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTPLQCAAYGGYINCMAVLMENNA
DPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERYTPLDYALLGERHEVI
QFMLEHGALSIAAIQDIAAFKIQAVYKGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEE
NKRKEAEQQKGRRSPDSCRPQALPCLPSTQDVPSRQSRAPSKQPPAGNVAQGPEPRDSRG
SPGGSLGGALQKEQHVSSDLQGTNSRRPNETAREHSKGQSACVHFRPNEGSDGSRHPGVP
SVEKSRGETAGDERCAKGKGFVKQPSCIRVAGPDEKGEDSRRAAASLPPHDSHWKPSRRH
DTEPKAKCAPQKRRTQELRGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKL
TGGLYSHLPQSTEELRSGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRL
QIIQRERRRKELFRKKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTAL
LLQVWRKELELKFPQTTAVSKAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSV
KASSVLRLNSVSNLQCIHLLENSGRSKNFSYNLQSATQPKNKTKP

Sequence length

1065

Interactions

View interactions

	KEGG
	Wnt signaling pathway

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nephronophthisis	nephronophthisis, infantile nephronophthisis	rs1425211517, rs1588153872, rs200844390, rs1205325321, rs1322951938, rs1329661241, rs753348470, rs375753623, rs755549444, rs878855332, rs375416014, rs376879175, rs121964994, rs769739938, rs955421639 View all (4 more)	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Insomnia	Insomnia	N/A	N/A	GWAS
Preeclampsia	Preeclampsia	N/A	N/A	GWAS
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Senior-Loken Syndrome	Senior-Loken syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Kidney Failure Chronic	Associate	19177160
Lung Neoplasms	Associate	28618971
Lymphatic Metastasis	Stimulate	28618971
Medullary cystic kidney disease 1	Associate	12234310
Multiple Myeloma	Associate	13952722
Myeloproliferative Syndrome Transient	Associate	8644714
Neoplasm Metastasis	Associate	39596188
Neoplasms	Associate	30576868
Neoplasms	Inhibit	39596188
Nephronophthisis 2	Associate	19177160
Nephronophthisis familial juvenile	Associate	12205563, 17617513, 18076122, 28618971

INVS (inversin)