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 gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidne... See more...

Aliases for NEK8 Gene

Aliases for NEK8 Gene

  • NIMA Related Kinase 8 2 3 5
  • NIMA (Never In Mitosis Gene A)- Related Kinase 8 2 3
  • Serine/Threonine-Protein Kinase Nek8 3 4
  • Never In Mitosis A-Related Kinase 8 3 4
  • Nima-Related Protein Kinase 12a 3 4
  • NimA-Related Protein Kinase 8 3 4
  • NEK12A 3 4
  • JCK 3 4
  • Serine/Thrionine-Protein Kinase NEK8 3
  • NIMA-Family Kinase NEK8 3
  • NIMA-Related Kinase 12a 3
  • Nephrocystin 9 3
  • EC 2.7.11.1 4
  • AC010761.1 5
  • EC 2.7.11 54
  • NPHP9 3
  • RHPD2 3

External Ids for NEK8 Gene

Previous GeneCards Identifiers for NEK8 Gene

  • GC00U991210
  • GC17P026917
  • GC17P027201
  • GC17P024079
  • GC17P027055
  • GC17P023264
  • GC17P027059
  • GC17P027068
  • GC17P027085

Summaries for NEK8 Gene

Entrez Gene Summary for NEK8 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 gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]

GeneCards Summary for NEK8 Gene

NEK8 (NIMA Related Kinase 8) is a Protein Coding gene. Diseases associated with NEK8 include Nephronophthisis 9 and Renal-Hepatic-Pancreatic Dysplasia 2. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is NEK9.

UniProtKB/Swiss-Prot Summary for NEK8 Gene

  • 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 (By similarity). Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway.

Gene Wiki entry for NEK8 Gene

Additional gene information for NEK8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEK8 Gene

Genomics for NEK8 Gene

GeneHancer (GH) Regulatory Elements for NEK8 Gene

Promoters and enhancers for NEK8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J028715 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 762.8 -3.0 -2973 14.4 PPP1R10 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SREBF1 SIX5 ZBTB6 ENSG00000264577 RPL23A NEK8 RAB34 SNORD42A SNORD4A SNORD4B X96641 piR-31970 TLCD1
GH17J029290 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 +567.2 567229 5.1 ZNF785 SIN3A SP1 ZBTB40 CTCF ZBTB6 FOXA1 MLX SMARCE1 RBPJ NUFIP2 lnc-CRYBA1-4 PHF12 LOC101927018 ENSG00000265908 ENSG00000264577 SUPT6H SDF2 ANKRD13B ENSG00000264647
GH17J028863 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 21.6 +139.4 139439 3.3 ZBTB40 SMARCE1 RUNX1 CC2D1A ELF1 L3MBTL2 RBM39 DACH1 TEAD4 ZKSCAN8 DHRS13 ENSG00000264577 RPL23A NUFIP2 ENSG00000265908 ENSG00000265205 ENSG00000264290 SUPT6H PHF12 SDF2
GH17J028333 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 -389.0 -389031 5.9 FOXK2 SIN3A ZBTB40 SIX5 ZBTB6 FOXA1 RBPJ POLR2A ATF1 CREB1 IFT20 TNFAIP1 lnc-IFT20-5 ENSG00000264577 SUPT6H NUFIP2 ITM2BP1 LOC101927018 ENSG00000265908 RPL23A
GH17J028737 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +18.3 18323 13.9 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SREBF1 FOXA1 ZBTB6 MLX TRAF4 ENSG00000265073 piR-43105-269 ENSG00000264577 NUFIP2 ENSG00000265205 SUPT6H ENSG00000264290 RPL23A ENSG00000265908
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEK8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NEK8 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • CHOP-10
  • E47
  • FOXI1
  • Tal-1beta

Genomic Locations for NEK8 Gene

Genomic Locations for NEK8 Gene
chr17:28,725,897-28,743,455
(GRCh38/hg38)
Size:
17,559 bases
Orientation:
Plus strand
chr17:27,052,915-27,070,473
(GRCh37/hg19)
Size:
17,559 bases
Orientation:
Plus strand

Genomic View for NEK8 Gene

Genes around NEK8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEK8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEK8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEK8 Gene

Proteins for NEK8 Gene

  • Protein details for NEK8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SG6-NEK8_HUMAN
    Recommended name:
    Serine/threonine-protein kinase Nek8
    Protein Accession:
    Q86SG6
    Secondary Accessions:
    • A6NIC5
    • Q14CL7
    • Q2M1S6
    • Q8NDH1

    Protein attributes for NEK8 Gene

    Size:
    692 amino acids
    Molecular mass:
    74806 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with PKD2; may regulate PKD2 targeting to the cilium (By similarity). Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme. Interacts with ANKS3 (By similarity).

neXtProt entry for NEK8 Gene

Selected DME Specific Peptides for NEK8 Gene

Q86SG6:
  • ILHRDLK
  • YNQKSDI
  • VGRGAFG

Post-translational modifications for NEK8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEK8 Gene

Domains & Families for NEK8 Gene

Gene Families for NEK8 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NEK8 Gene

GenScript: Design optimal peptide antigens:
  • Nima-related protein kinase 12a (NEK8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86SG6

UniProtKB/Swiss-Prot:

NEK8_HUMAN :
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
Family:
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
genes like me logo Genes that share domains with NEK8: view

Function for NEK8 Gene

Molecular function for NEK8 Gene

UniProtKB/Swiss-Prot 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 (By similarity). Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.

Enzyme Numbers (IUBMB) for NEK8 Gene

Phenotypes From GWAS Catalog for NEK8 Gene

Gene Ontology (GO) - Molecular Function for NEK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA,IEA 21873635
GO:0005515 protein binding IPI 23418306
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with NEK8: view
genes like me logo Genes that share phenotypes with NEK8: view

Human Phenotype Ontology for NEK8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEK8 Gene

MGI Knock Outs for NEK8:

Animal Model Products

  • Taconic Biosciences Mouse Models for NEK8

CRISPR Products

miRNA for NEK8 Gene

miRTarBase miRNAs that target NEK8

Clone Products

  • Addgene plasmids for NEK8

No data available for Transcription Factor Targets and HOMER Transcription for NEK8 Gene

Localization for NEK8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEK8 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, cilium. Note=Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEK8 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NEK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium ISS,IMP --
GO:0042995 cell projection IEA --
GO:0097543 ciliary inversin compartment IEA --
genes like me logo Genes that share ontologies with NEK8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEK8 Gene

Pathways & Interactions for NEK8 Gene

PathCards logo

SuperPathways for NEK8 Gene

No Data Available

SIGNOR curated interactions for NEK8 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for NEK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0009887 animal organ morphogenesis IMP 23418306
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with NEK8: view

No data available for Pathways by source for NEK8 Gene

Drugs & Compounds for NEK8 Gene

(2) Drugs for NEK8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for NEK8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with NEK8: view

Transcripts for NEK8 Gene

mRNA/cDNA for NEK8 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for NEK8

Alternative Splicing Database (ASD) splice patterns (SP) for NEK8 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - -
SP2:
SP3: - -
SP4: - -
SP5: -

Relevant External Links for NEK8 Gene

GeneLoc Exon Structure for
NEK8
ECgene alternative splicing isoforms for
NEK8

Expression for NEK8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NEK8 Gene

Protein differential expression in normal tissues from HIPED for NEK8 Gene

This gene is overexpressed in Liver (60.8) and Testis (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NEK8 Gene



Protein tissue co-expression partners for NEK8 Gene

NURSA nuclear receptor signaling pathways regulating expression of NEK8 Gene:

NEK8

SOURCE GeneReport for Unigene cluster for NEK8 Gene:

Hs.448468

mRNA Expression by UniProt/SwissProt for NEK8 Gene:

Q86SG6-NEK8_HUMAN
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.

Evidence on tissue expression from TISSUES for NEK8 Gene

  • Nervous system(4.2)
  • Kidney(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEK8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • mouth
  • salivary gland
  • skull
Thorax:
  • aorta
  • breast
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • placenta
  • testicle
  • ureter
  • urinary bladder
  • uterus
Limb:
  • digit
  • femur
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with NEK8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NEK8 Gene

Orthologs for NEK8 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEK8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEK8 33 32
  • 97.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEK8 33 32
  • 89.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEK8 33 32
  • 88.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nek8 32
  • 88.05 (n)
mouse
(Mus musculus)
Mammalia Nek8 17 33 32
  • 87.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NEK8 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEK8 33 32
  • 75.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 36 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nek8 32
  • 70.34 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20074 32
zebrafish
(Danio rerio)
Actinopterygii nek8 33 32 32
  • 70.69 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta niki 33 32
  • 48.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006872 32
  • 46.46 (n)
worm
(Caenorhabditis elegans)
Secernentea nekl-1 32
  • 46.26 (n)
nekl-2 33
  • 44 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 30 (a)
ManyToMany
Cin.1153 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1153 32
Species where no ortholog for NEK8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NEK8 Gene

ENSEMBL:
Gene Tree for NEK8 (if available)
TreeFam:
Gene Tree for NEK8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEK8: view image

Paralogs for NEK8 Gene

Paralogs for NEK8 Gene

(47) SIMAP similar genes for NEK8 Gene using alignment to 5 proteins:

  • NEK8_HUMAN
  • K7EL04_HUMAN
  • K7EMF0_HUMAN
  • K7END4_HUMAN
  • K7EPD3_HUMAN
genes like me logo Genes that share paralogs with NEK8: view

Variants for NEK8 Gene

Sequence variations from dbSNP and Humsavar for NEK8 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1060501399 uncertain-significance, Nephronophthisis 9 28,735,334(+) A/C coding_sequence_variant, missense_variant
rs1142899 benign, Nephronophthisis 28,742,375(+) C/T 3_prime_UTR_variant
rs11649957 uncertain-significance, Nephronophthisis 28,735,383(+) C/A/T intron_variant
rs118204032 pathogenic, Nephronophthisis 9, Nephronophthisis 9 (NPHP9) [MIM:613824] 28,738,721(+) C/T coding_sequence_variant, missense_variant
rs1367268677 pathogenic, Renal-hepatic-pancreatic dysplasia 2 28,728,861(+) G/A splice_donor_variant

Structural Variations from Database of Genomic Variants (DGV) for NEK8 Gene

Variant ID Type Subtype PubMed ID
esv24071 CNV loss 19812545
nsv1064087 CNV gain 25217958

Variation tolerance for NEK8 Gene

Residual Variation Intolerance Score: 6.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEK8 Gene

Human Gene Mutation Database (HGMD)
NEK8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEK8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEK8 Gene

Disorders for NEK8 Gene

MalaCards: The human disease database

(15) MalaCards diseases for NEK8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 9
  • nphp9
renal-hepatic-pancreatic dysplasia 2
  • rhpd2
renal-hepatic-pancreatic dysplasia
  • ivemark's syndrome
infantile nephronophthisis
  • nephronophthisis 2
gallbladder small cell carcinoma
  • oat cell carcinoma of the gallbladder
- elite association - COSMIC cancer census association via MalaCards
Search NEK8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEK8_HUMAN
  • Nephronophthisis 9 (NPHP9) [MIM:613824]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. {ECO:0000269 PubMed:18199800}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Renal-hepatic-pancreatic dysplasia 2 (RHPD2) [MIM:615415]: A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. {ECO:0000269 PubMed:23418306}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NEK8

genes like me logo Genes that share disorders with NEK8: view

No data available for Genatlas for NEK8 Gene

Publications for NEK8 Gene

  1. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. (PMID: 18199800) Otto EA … Hildebrandt F (Journal of the American Society of Nephrology : JASN 2008) 2 3 4 56
  2. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. (PMID: 23793029) Hoff S … Lienkamp SS (Nature genetics 2013) 3 4 56
  3. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. (PMID: 23418306) Frank V … Bergmann C (Human molecular genetics 2013) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors. (PMID: 15019993) Bowers AJ … Boylan JF (Gene 2004) 3 4 56

Products for NEK8 Gene

Sources for NEK8 Gene