NPHP3 (nephrocystin 3)

2014-11-01  

Identity

HGNC
NPHP3
LOCATION
3q22.1
LOCUSID
27031
ALIAS
CFAP31,MKS7,NPH3,RHPD,RHPD1,SLSN3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27031
MIM: 608002
HGNC: 7907
Ensembl: ENSG00000113971

Variants:

dbSNP: 27031
ClinVar: 27031
TCGA: ENSG00000113971
COSMIC: NPHP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113971ENST00000337331Q7Z494
ENSG00000113971ENST00000383282Q7Z494
ENSG00000113971ENST00000465756F2Z3A8
ENSG00000113971ENST00000469232A0A0C4DG93
ENSG00000113971ENST00000512094H0YAM4

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
Trafficking of myristoylated proteins to the ciliumREACTOMER-HSA-5624138

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364988312022HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition.3
364988312022HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition.3
342124382021A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.7
342124382021A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.7
321733482020Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.5
321733482020Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.5
310487332019Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells.10
310487332019Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells.10
283924752017A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.4
289217552017Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.2
283924752017A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.4
289217552017Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.2
261847882016High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.8
261847882016High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.8
247766042014NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.1

Citation

Dessen P

NPHP3 (nephrocystin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70924/nphp3-(nephrocystin-3)