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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	284086
Gene name Gene Name - the full gene name approved by the HGNC.	NIMA related kinase 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NEK8
Synonyms (NCBI Gene) Gene synonyms aliases	JCK, NEK12A, NPHP9, PKD8, RHPD2
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118204032	C>T	Pathogenic	Coding sequence variant, missense variant
rs140255077	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375661404	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs376531637	C>T	Pathogenic	Coding sequence variant, missense variant
rs751440831	G>A	Pathogenic	Coding sequence variant, missense variant
rs752792782	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs755820155	->C	Pathogenic	Coding sequence variant, frameshift variant, stop lost
rs756231248	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs762826555	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs770284675	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs773883764	C>T	Pathogenic	Missense variant, coding sequence variant
rs780247729	G>T	Likely-pathogenic	Splice donor variant
rs1555563725	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555563787	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555564134	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555564214	T>-	Likely-pathogenic	Splice donor variant

Show/Hide all(250)

miRTarBase ID	miRNA	Experiments	Reference
MIRT724383	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT724382	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT724381	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT724380	hsa-miR-3663-5p	HITS-CLIP	19536157
MIRT724379	hsa-miR-6131	HITS-CLIP	19536157
MIRT724378	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT724377	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT724376	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT724375	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT649295	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT649294	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT649293	hsa-miR-622	HITS-CLIP	23824327
MIRT649291	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT649292	hsa-miR-4264	HITS-CLIP	23824327
MIRT649290	hsa-miR-3176	HITS-CLIP	23824327
MIRT649289	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT649288	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT649287	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT649286	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT649285	hsa-miR-548s	HITS-CLIP	23824327
MIRT649284	hsa-miR-4435	HITS-CLIP	23824327
MIRT649283	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT649282	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT649281	hsa-miR-1303	HITS-CLIP	23824327
MIRT518866	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT518865	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT518864	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT518863	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT518862	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT518861	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT518860	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT518859	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT518858	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT518857	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT518856	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT518855	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT518854	hsa-miR-302e	PAR-CLIP	23446348
MIRT518853	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT518852	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT518851	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT518850	hsa-miR-520b	PAR-CLIP	23446348
MIRT518849	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT518848	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT518847	hsa-miR-520e	PAR-CLIP	23446348
MIRT518846	hsa-miR-4438	PAR-CLIP	23446348
MIRT518845	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT518844	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518843	hsa-miR-520g-3p	PAR-CLIP	23446348
MIRT518842	hsa-miR-520h	PAR-CLIP	23446348
MIRT518841	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT518840	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT518839	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT518838	hsa-miR-4252	PAR-CLIP	23446348
MIRT518837	hsa-miR-4297	PAR-CLIP	23446348
MIRT518836	hsa-miR-5581-5p	PAR-CLIP	23446348
MIRT518835	hsa-miR-6882-3p	PAR-CLIP	23446348
MIRT518834	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT518833	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT518832	hsa-miR-5095	PAR-CLIP	23446348
MIRT518831	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518830	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518829	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT724383	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT724382	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT724381	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT724380	hsa-miR-3663-5p	HITS-CLIP	19536157
MIRT724379	hsa-miR-6131	HITS-CLIP	19536157
MIRT724378	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT724377	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT724376	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT724375	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT649295	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT649294	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT649293	hsa-miR-622	HITS-CLIP	23824327
MIRT649291	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT649292	hsa-miR-4264	HITS-CLIP	23824327
MIRT649290	hsa-miR-3176	HITS-CLIP	23824327
MIRT649289	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT649288	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT649287	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT649286	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT649285	hsa-miR-548s	HITS-CLIP	23824327
MIRT649284	hsa-miR-4435	HITS-CLIP	23824327
MIRT649283	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT649282	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT649281	hsa-miR-1303	HITS-CLIP	23824327
MIRT518866	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT518865	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT518864	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT518863	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT518862	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT518861	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT518860	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT518859	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT518858	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT518857	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT518856	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT518855	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT518854	hsa-miR-302e	PAR-CLIP	23446348
MIRT518853	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT518852	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT518851	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT518850	hsa-miR-520b	PAR-CLIP	23446348
MIRT518849	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT518848	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT518847	hsa-miR-520e	PAR-CLIP	23446348
MIRT518846	hsa-miR-4438	PAR-CLIP	23446348
MIRT518845	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT518844	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518843	hsa-miR-520g-3p	PAR-CLIP	23446348
MIRT518842	hsa-miR-520h	PAR-CLIP	23446348
MIRT518841	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT518840	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT518839	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT518838	hsa-miR-4252	PAR-CLIP	23446348
MIRT518837	hsa-miR-4297	PAR-CLIP	23446348
MIRT518836	hsa-miR-5581-5p	PAR-CLIP	23446348
MIRT518835	hsa-miR-6882-3p	PAR-CLIP	23446348
MIRT518834	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT518833	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT518832	hsa-miR-5095	PAR-CLIP	23446348
MIRT518831	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518830	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518829	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT1180421	hsa-miR-106a	CLIP-seq
MIRT1180422	hsa-miR-106b	CLIP-seq
MIRT1180423	hsa-miR-1193	CLIP-seq
MIRT1180424	hsa-miR-1207-3p	CLIP-seq
MIRT1180425	hsa-miR-1227	CLIP-seq
MIRT1180426	hsa-miR-150	CLIP-seq
MIRT1180427	hsa-miR-17	CLIP-seq
MIRT1180428	hsa-miR-197	CLIP-seq
MIRT1180429	hsa-miR-1976	CLIP-seq
MIRT1180430	hsa-miR-20a	CLIP-seq
MIRT1180431	hsa-miR-20b	CLIP-seq
MIRT1180432	hsa-miR-2392	CLIP-seq
MIRT1180433	hsa-miR-302a	CLIP-seq
MIRT1180434	hsa-miR-302b	CLIP-seq
MIRT1180435	hsa-miR-302c	CLIP-seq
MIRT1180436	hsa-miR-302d	CLIP-seq
MIRT1180437	hsa-miR-3170	CLIP-seq
MIRT1180438	hsa-miR-3199	CLIP-seq
MIRT1180439	hsa-miR-372	CLIP-seq
MIRT1180440	hsa-miR-373	CLIP-seq
MIRT1180441	hsa-miR-4454	CLIP-seq
MIRT1180442	hsa-miR-4662a-5p	CLIP-seq
MIRT1180443	hsa-miR-4676-5p	CLIP-seq
MIRT1180444	hsa-miR-4707-3p	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180448	hsa-miR-5096	CLIP-seq
MIRT1180449	hsa-miR-519d	CLIP-seq
MIRT1180450	hsa-miR-520g	CLIP-seq
MIRT1180451	hsa-miR-575	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq
MIRT1180453	hsa-miR-646	CLIP-seq
MIRT1180454	hsa-miR-93	CLIP-seq
MIRT1180423	hsa-miR-1193	CLIP-seq
MIRT2052201	hsa-miR-1200	CLIP-seq
MIRT1180424	hsa-miR-1207-3p	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT1180428	hsa-miR-197	CLIP-seq
MIRT1180429	hsa-miR-1976	CLIP-seq
MIRT1180432	hsa-miR-2392	CLIP-seq
MIRT1180437	hsa-miR-3170	CLIP-seq
MIRT1180438	hsa-miR-3199	CLIP-seq
MIRT2052203	hsa-miR-4279	CLIP-seq
MIRT2052204	hsa-miR-4324	CLIP-seq
MIRT2052205	hsa-miR-4468	CLIP-seq
MIRT1180442	hsa-miR-4662a-5p	CLIP-seq
MIRT1180443	hsa-miR-4676-5p	CLIP-seq
MIRT2052206	hsa-miR-4722-3p	CLIP-seq
MIRT1180448	hsa-miR-5096	CLIP-seq
MIRT2052207	hsa-miR-544b	CLIP-seq
MIRT1180451	hsa-miR-575	CLIP-seq
MIRT1180453	hsa-miR-646	CLIP-seq
MIRT1180421	hsa-miR-106a	CLIP-seq
MIRT1180422	hsa-miR-106b	CLIP-seq
MIRT1180423	hsa-miR-1193	CLIP-seq
MIRT2052201	hsa-miR-1200	CLIP-seq
MIRT1180424	hsa-miR-1207-3p	CLIP-seq
MIRT1180425	hsa-miR-1227	CLIP-seq
MIRT1180426	hsa-miR-150	CLIP-seq
MIRT1180427	hsa-miR-17	CLIP-seq
MIRT1180428	hsa-miR-197	CLIP-seq
MIRT1180429	hsa-miR-1976	CLIP-seq
MIRT1180430	hsa-miR-20a	CLIP-seq
MIRT1180431	hsa-miR-20b	CLIP-seq
MIRT1180432	hsa-miR-2392	CLIP-seq
MIRT1180433	hsa-miR-302a	CLIP-seq
MIRT1180434	hsa-miR-302b	CLIP-seq
MIRT1180435	hsa-miR-302c	CLIP-seq
MIRT1180436	hsa-miR-302d	CLIP-seq
MIRT1180438	hsa-miR-3199	CLIP-seq
MIRT1180439	hsa-miR-372	CLIP-seq
MIRT1180440	hsa-miR-373	CLIP-seq
MIRT2052203	hsa-miR-4279	CLIP-seq
MIRT2052204	hsa-miR-4324	CLIP-seq
MIRT1180441	hsa-miR-4454	CLIP-seq
MIRT2052205	hsa-miR-4468	CLIP-seq
MIRT1180442	hsa-miR-4662a-5p	CLIP-seq
MIRT1180443	hsa-miR-4676-5p	CLIP-seq
MIRT1180444	hsa-miR-4707-3p	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT2052206	hsa-miR-4722-3p	CLIP-seq
MIRT1180448	hsa-miR-5096	CLIP-seq
MIRT1180449	hsa-miR-519d	CLIP-seq
MIRT1180450	hsa-miR-520g	CLIP-seq
MIRT2052207	hsa-miR-544b	CLIP-seq
MIRT1180451	hsa-miR-575	CLIP-seq
MIRT1180453	hsa-miR-646	CLIP-seq
MIRT1180454	hsa-miR-93	CLIP-seq
MIRT2455053	hsa-miR-1273f	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT2455054	hsa-miR-3149	CLIP-seq
MIRT2455055	hsa-miR-411	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq
MIRT2455053	hsa-miR-1273f	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT2455054	hsa-miR-3149	CLIP-seq
MIRT2455055	hsa-miR-411	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq
MIRT1180425	hsa-miR-1227	CLIP-seq
MIRT2455053	hsa-miR-1273f	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT2455054	hsa-miR-3149	CLIP-seq
MIRT1180437	hsa-miR-3170	CLIP-seq
MIRT2455055	hsa-miR-411	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq
MIRT1180425	hsa-miR-1227	CLIP-seq
MIRT2455053	hsa-miR-1273f	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT2455054	hsa-miR-3149	CLIP-seq
MIRT1180437	hsa-miR-3170	CLIP-seq
MIRT1180438	hsa-miR-3199	CLIP-seq
MIRT2455055	hsa-miR-411	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	22939624, 23418306, 25036637, 25416956, 26188091, 26638075, 26967905, 32296183, 32707033, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	26967905
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	IMP	18199800
GO:0005929	Component	Cilium	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0009887	Process	Animal organ morphogenesis	IMP	23418306
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035330	Process	Regulation of hippo signaling	IDA	23418306
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0097543	Component	Ciliary inversin compartment	IEA
GO:0097546	Component	Ciliary base	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
609799	13387	ENSG00000160602

Protein

UniProt ID

Q86SG6

Protein name

Serine/threonine-protein kinase Nek8 (EC 2.7.11.1) (Never in mitosis A-related kinase 8) (NimA-related protein kinase 8) (Nima-related protein kinase 12a)

Protein function

Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (PubMed:37598857). Plays a role in organogenesis, and i

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	4 → 258	Protein kinase domain	Domain
PF00415	RCC1	409 → 458	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	463 → 510	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	579 → 628	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	631 → 681	Regulator of chromosome condensation (RCC1) repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma. {E

Sequence

MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNH
PNVIEYYENFLEDKALMIAMEYAPGGTLAEFIQKRCNSLLEEETILHFFVQILLALHHVH
THLILHRDLKTQNILLDKHRMVVKIGDFGISKILSSKSKAYTVVGTPCYISPELCEGKPY
NQKSDIWALGCVLYELASLKRAFEAANLPALVLKIMSGTFAPISDRYSPELRQLVLSLLS
LEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKSVAPSNTGSRTTSVRCRGIPR
GPVRPAIPPPLSSVYAWGGGLGTPLRLPMLNTEVVQVAAGRTQKAGVTRSGRLILWEAPP
LGAGGGSLLPGAVEQPQPQFISRFLEGQSGVTIKHVACGDFFTACLTDRGIIMTFGSGSN
GCLGHGSLTDISQPTIVEALLGYEMVQVACGASHVLALSTERELFAWGRGDSGRLGLGTR
ESHSCPQQVPMPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFNKLGLDHLSLGEEPVP
HQQVEEALSFTLLGSAPLDQEPLLSIDLGTAHSAAVTASGDCYTFGSNQHGQLGTNTRRG
SRAPCKVQGLEGIKMAMVACGDAFTVAIGAESEVYSWGKGARGRLGRRDEDAGLPRPVQL
DETHPYTVTSVSCCHGNTLLAVRSVTDEPVPP

Sequence length

692

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nephronophthisis	nephronophthisis 9	rs780247729, rs375661404, rs1555564214, rs749866369, rs1555564134, rs752792782, rs118204032	N/A
RENAL-HEPATIC-PANCREATIC DYSPLASIA	renal-hepatic-pancreatic dysplasia 2	rs762826555, rs755820155, rs1555563787, rs751440831, rs1367268677, rs752792782, rs770284675, rs375661404	N/A

Show/Hide Unknown Diseases (3)

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.
Anxiety Disorder	Anxiety	N/A	N/A	GWAS
Cystic Kidney Disease	polycystic kidney disease 8	N/A	N/A	GenCC
Polycystic kidney disease	autosomal dominant polycystic kidney disease	N/A	N/A	GenCC

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Apraxias	Associate	27120335
Breast Neoplasms	Associate	37100815
Carcinoma Hepatocellular	Associate	23376929
Carcinoma Non Small Cell Lung	Stimulate	35105934
Ciliopathies	Associate	21068128
Colorectal Neoplasms	Associate	37596667
Glioma	Associate	34374193
Neoplasm Metastasis	Stimulate	35105934, 37100815
Neoplasms	Stimulate	23376929, 35105934, 37100815
Neoplasms	Associate	34374193
Pancreatic Neoplasms	Associate	20581473

NEK8 (NIMA related kinase 8)