Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27031
Gene name Gene Name - the full gene name approved by the HGNC.
Nephrocystin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NPHP3
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024459 hsa-miR-215-5p Microarray 19074876
MIRT026854 hsa-miR-192-5p Microarray 19074876
MIRT641132 hsa-miR-4781-3p HITS-CLIP 23824327
MIRT641131 hsa-miR-221-5p HITS-CLIP 23824327
MIRT641130 hsa-miR-8073 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IBA
GO:0001822 Process Kidney development IEA
GO:0001822 Process Kidney development IMP 20007846
GO:0001947 Process Heart looping IMP 18371931, 20007846
GO:0003283 Process Atrial septum development IMP 18371931
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608002 7907 ENSG00000113971
Protein
UniProt ID Q7Z494
Protein name Nephrocystin-3
Protein function Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a
PDB 5L7K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13424 TPR_12 941 1017 Repeat
PF13424 TPR_12 999 1059 Repeat
PF13424 TPR_12 1116 1167 Repeat
PF13424 TPR_12 1133 1209 Repeat
PF13424 TPR_12 1175 1251 Repeat
PF13424 TPR_12 1217 1293 Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. {ECO:0000269|PubMed:12872122}.
Sequence
MGTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSL
PRGVGAGGLLGASFKSTGSSVPELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLD
TENKRLRAELQALQKTYQKILREKESALEAKYQAMERAATFEHDRDKVKRQFKIFRETKE
NEIQDLLRAKRELESKLQRLQAQGIQVFDPGESDSDDNCTDVTAAGTQCEYWTGGALGSE
PSIGSMIQLQQSFRGPEFAHSSIDVEGPFANVNRDDWDIAVASLLQVTPLFSHSLWSNTV
RCYLIYTDETQPEMDLFLKDYSPKLKRMCETMGYFFHAVYFPIDVENQYLTVRKWEIEKS
SLVILFIHLTLPSLLLEDCEEAFLKNPEGKPRLIFHRLEDGKVSSDSVQQLIDQVSNLNK
TSKAKIIDHSGDPAEGVYKTYICVEKIIKQDILGFENTDLETKDLGSEDSIPEEDDFGDV
LWDIHDEQEQMETFQQASNSAHELGFEKYYQRLNDLVAAPAPIPPLLVSGGPGSGKSLLL
SKWIQLQQKNSPNTLILSHFVGRPMSTSSESSLIIKRLTLKLMQHSWSVSALTLDPAKLL
EEFPRWLEKLSARHQGSIIIVIDSIDQVQQVEKHMKWLIDPLPVNVRVIVSVNVETCPPA
WRLWPTLHLDPLSPKDAKSIIIAECHSVDIKLSKEQEKKLERHCRSATTCNALYVTLFGK
MIARAGRAGNLDKILHQCFQCQDTLSLYRLVLHSIRESMANDVDKELMKQILCLVNVSHN
GVSESELMELYPEMSWTFLTSLIHSLYKMCLLTYGCGLLRFQHLQAWETVRLEYLEGPTV
TSSYRQKLINYFTLQLSQDRVTWRSADELPWLFQQQGSKQKLHDCLLNLFVSQNLYKRGH
FAELLSYWQFVGKDKSAMATEYFDSLKQYEKNCEGEDNMSCLADLYETLGRFLKDLGLLS
QAIVPLQRSLEIRETALDPDHPRVAQSLHQLASVYVQW
KKFGNAEQLYKQALEISENAYG
ADHPYTARELEALATLYQKQNKYEQAEHFRKKSFKIHQK
AIKKKGNLYGFALLRRRALQL
EELTLGKDTPDNARTLNELGVLYYLQNNLETADQFLKRSLEMRERVLGPDHPDCAQSLNN
LAALCNEKKQYDKAEELYERALDIRRR
ALAPDHPSLAYTVKHLAILYKKMGKLDKAVPLY
ELAVEIRQK
SFGPKHPSVATALVNLAVLYSQMKKHVEALPLYERALKIYEDSLGRMHPRV
GETLKNLAVLSYEGGDFEKAAELYKRAMEIKEA
ETSLLGGKAPSRHSSSGDTFSLKTAHS
PNVFLQQGQR
Sequence length 1330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Trafficking of myristoylated proteins to the cilium
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Meckel-Like Syndrome nphp3-related meckel-like syndrome rs201237799, rs1576660495, rs267606916, rs751527253, rs119456961, rs119456962, rs780020801 N/A
Nephronophthisis nephronophthisis, nephronophthisis 3 rs1560002147, rs763300393, rs771215577, rs758238787, rs780020801, rs771742823, rs267606916, rs201237799, rs1576660495, rs182135982, rs119456959, rs758498695, rs773521620, rs1560017690, rs759262253
View all (19 more)
N/A
RENAL-HEPATIC-PANCREATIC DYSPLASIA renal-hepatic-pancreatic dysplasia 1 rs119456963, rs780020801, rs119456964, rs751527253 N/A
Joubert Syndrome Joubert syndrome and related disorders rs267606916, rs1456714047, rs398124546, rs1553773296 N/A
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.
Disease merge term Disease name Evidence References Source
Bardet-Biedl Syndrome bardet-biedl syndrome N/A N/A ClinVar
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
focal segmental glomerulosclerosis Focal segmental glomerulosclerosis N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 31048733
Carcinoma Renal Cell Associate 38179759
Chemical and Drug Induced Liver Injury Associate 19177160
Ciliopathies Associate 20007846, 21068128, 34212438
Heart Valve Diseases Associate 33518654
Hepatic Fibrosis Congenital Associate 34212438
Hepatorenal Syndrome Associate 34212438
Hypoxia Brain Stimulate 36498831
Idiopathic Pulmonary Fibrosis Associate 34212438
Kidney Failure Chronic Associate 19177160, 30002499