NPHS1 (NPHS1 adhesion molecule, nephrin)

2016-10-01  

Identity

HGNC
NPHS1
LOCATION
19q13.12
LOCUSID
4868
ALIAS
CNF,NPHN,nephrin

Other Information

Locus ID:

NCBI: 4868
MIM: 602716
HGNC: 7908
Ensembl: ENSG00000161270

Variants:

dbSNP: 4868
ClinVar: 4868
TCGA: ENSG00000161270
COSMIC: NPHS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161270ENST00000353632O60500
ENSG00000161270ENST00000378910O60500

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Cell-Cell communicationREACTOMER-HSA-1500931
Nephrin interactionsREACTOMER-HSA-373753

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotation, VariantAnnotationassociatedPD
PA450268losartanChemicalClinicalAnnotation, VariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
374957412024Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children.0
374957412024Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children.0
368346912023Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCδ Activation.1
368346912023Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCδ Activation.1
352781262022Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.2
357479292022Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure.1
352781262022Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.2
357479292022Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure.1
335919542021Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.16
345555522021The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia.1
347077242021Urinary Matrix Metalloproteinase-9 and Nephrin in Idiopathic Membranous Nephropathy: A Cross-Sectional Study.5
359462742021Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome.0
335919542021Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.16
345555522021The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia.1
347077242021Urinary Matrix Metalloproteinase-9 and Nephrin in Idiopathic Membranous Nephropathy: A Cross-Sectional Study.5

Citation

Dessen P

NPHS1 (NPHS1 adhesion molecule, nephrin)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56455/nphs1