NPHS2 - NPHS2 stomatin family member, podocin Gene

Also Known as PDCN; SRN1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7827

About NPHS2

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,550,539-179,575,948 (from NCBI)

This gene has 2 transcripts (splice variants), 196 orthologues, 4 paralogues and is associated with 3 phenotypes. Restricted expression toward kidney (RPKM 45.3).

Summary

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

NPHS2 Products (2)

mRNA	Protein	Name
NM_001297575.2	NP_001284504.1	podocin isoform 2
NM_014625.4	NP_055440.1	podocin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12424224	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin cytoskeleton organization	IDA IDA: Inferred from direct assay	17675666	GOA
involved in metanephric podocyte development	IEP IEP: Inferred from expression pattern	11786407	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell-cell junction	IDA IDA: Inferred from direct assay	17675666	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	11786407	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	17675666	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	17675666	GOA
colocalizes with slit diaphragm	IDA IDA: Inferred from direct assay	11786407	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NPHS2 Protein Structure

Band_7

0
100
200
300
383 a.a.

Protein Preferred Names	Protein Names
podocin	NPHS2, podocin

NPHS2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NPHS2	Q9NP85	IQGAP1	Homo sapiens	P46940	Confocal	22662192
Intra	NPHS2	Q9NP85	IQGAP1	Homo sapiens	P46940	Anti Bait CoIP	22662192

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NPHS2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79374	Podocin/NPHS2 Protein, Human (His, Myc)	Q9NP85-1 (C124-L383)	≥ 85%, as determined by reducing SDS-PAGE.

NPHS2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82625	NPHS2 Antibody (YA2370)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Nephrotic Syndrome, Type 2	NPHS2 Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1 Nephrotic Syndrome Type 2 Steroid-Resistant Autosomal Recessive Nephrotic Syndrome Nephrotic Syndrome 2 Autosomal Recessive Steroid-Resistant Nephrotic Syndrome Srn Nephrotic Syndrome, Type 2, Susceptibility To Idiopathic Nephrotic Syndrome
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Idiopathic Nephrotic Syndrome
Genetic Nephrotic Syndrome	Hereditary Nephrotic Syndrome
Nephrotic Syndrome, Type 24	NPHS24 Idiopathic Steroid-Resistant Nephrotic Syndrome Idiopathic Srns Nephrotic Syndrome 24 Nephrotic Syndrome, Idiopathic, Steroid-Resistant Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Genetic Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Genetic Srns Hereditary Steroid-Resistant Nephrotic Syndrome Familial Idiopathic Nephrotic Syndrome Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1
Nail-Patella Syndrome	Turner-Kieser Syndrome Onychoosteodysplasia Fong Disease NPS Hereditary Onycho-Osteodysplasia Nps1 Hereditary Onychoostedysplasia Iliac Horn Syndrome Nail Patella Syndrome Turner-Kiser Syndrome Arthro-Onychodysplasia Nps 1 Osteo-Onychodysplasia Hereditary Osteo-Onychodysplasia Osterreicher Syndrome Pelvic Horn Syndrome Österreicher-Turner Syndrome Nps - [Nail-Patella Syndrome] Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Frasier Syndrome	FS
Lipoid Nephrosis	Minimal Change Disease Minimal Change Glomerulonephritis Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome Idiopathic Minimal Change Nephrotic Syndrome Mcns Minimal Change Glomerulopathy Minimal Change Nephrotic Syndrome Nephrotic Syndrome Minimal Change Nephrosis, Lipoid Glomerulonephritis, Minimal Change Nephrotic Syndrome, Minimal Change
Membranous Nephropathy	Membranous Glomerulonephritis Glomerulonephritis, Membranous Idiopathic Membranous Nephropathy Idiopathic Membranous Glomerulonephritis MBNP Membranous Nephropathy, Susceptibility To Extramembranous Glomerulonephritis Mgn Membranous Gn Primary Membranous Glomerulonephritis Primary Membranous Nephropathy Nephropathy Membranous
Denys-Drash Syndrome	Drash Syndrome DDS Nephropathy, Wilms Tumor, And Genital Anomalies Wilms Tumor And Pseudohermaphroditism Wilms Tumor And Pseudo- Or True Hermaphroditism Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor Wilms Tumor-Dsd Syndrome Wilms Tumor-Disorder Of Sex Development Syndrome
Nephrotic Syndrome, Type 1	Finnish Congenital Nephrosis NPHS1 Cnf Finnish Congenital Nephrotic Syndrome Nephrotic Syndrome Type 1 Nephrosis, Congenital Congenital Nephrotic Syndrome Nephrotic Syndrome, Congenital Congenital Nephrotic Syndrome Finnish Type Congenital Nephrotic Syndrome 1 Nephrosis 1, Congenital, Finnish Type Congenital Nephrotic Syndrome, Finnish Type Nephrotic Syndrome 1 Congenital Nephrotic Syndrome Of The Finnish Type
Familial Nephrotic Syndrome	Congenital Nephrotic Syndrome Nephrosis, Congenital Finnish Congenital Nephrotic Syndrome
Nephrosclerosis	Renal Sclerosis
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Barakat Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Hdr Syndrome Nephrosis, Nerve Deafness, And Hypoparathyroidism Hypoparathyroidism, Sensorineural Deafness, And Renal Disease HDR HDRS Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome Hypoparathyroidism-Sensorineural Hearing Loss-Renal Disease Syndrome Nephrosis Nephrotic Syndrome
Pierson Syndrome	Microcoria-Congenital Nephrotic Syndrome Microcoria-Congenital Nephrosis Syndrome PIERS Microcoria - Congenital Nephrosis Microcoria - Congenital Nephrotic Syndrome PIERSS
Iga Glomerulonephritis	Iga Nephropathy Glomerulonephritis, Iga Berger'S Iga Or Igg Nephropathy Focal Glomerulonephritis Primary Iga Nephropathy Segmental Glomerulonephritis Berger Disease Berger'S Disease Igan Nephritis, Iga Type Nephropathy Iga Glomerulonephritis Focal Iga Nephropathy, Susceptibility To Primary Immunoglobulin A Nephropathy
Glomerulonephritis	Bright'S Disease
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Diffuse Mesangial Sclerosis	Familial Mesangial Sclerosis Mesangial Sclerosis, Diffuse Dms Diffuse Isolated Mesangial Sclerosis Isolated Diffuse Mesangial Sclerosis Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis
Focal Segmental Glomerulosclerosis 2	FSGS2 Glomerulosclerosis, Focal Segmental, 2 Glomerulosclerosis, Segmental, Focal, Type 2
Kidney Hypertrophy	Hypertrophy Of Kidney
Focal Segmental Glomerulosclerosis 1	FSGS1 Glomerulosclerosis, Focal Segmental, 1 Glomerulosclerosis, Segmental, Focal, Type 1 Segmental Glomerulosclerosis
Nephrotic Syndrome, Type 23	NPHS23 Nephrotic Syndrome Type 23 Nephrotic Syndrome 23
Congenital Syphilis	Syphilis, Congenital Congenital Syphilis, Unspecified Mtct Of Syphilis Mother-To-Child Transmission Of Syphilis Syphilis Congenital Hereditary Syphilis Heredosyphilis
Discrete Subaortic Stenosis
Focal Segmental Glomerulosclerosis 5	FSGS5 Glomerulosclerosis, Focal Segmental, 5 Glomerulosclerosis, Segmental, Focal, Type 5
Nephrotic Syndrome, Type 4	NPHS4 Nephrotic Syndrome Type 4 Nephrotic Syndrome 4 Isolated Diffuse Mesangial Sclerosis
Autosomal Recessive Alport Syndrome	Alport Syndrome, Recessive Type Alport Syndrome, Autosomal Recessive Alport Syndrome Autosomal Recessive Alport Syndrome Recessive Type Nephropathy And Deafness
Hematuria, Benign Familial	Benign Familial Hematuria BFH Thin Membrane Nephropathy Tmn Thin Basement Membrane Nephropathy Thin-Basement-Membrane Nephropathy Hematuria, Familial Benign Hematuria Benign Familial Hematuria, Benign, Familial Thin Basement Membrane Disease
Crescentic Glomerulonephritis	Idiopathic Crescentic Glomerulonephritis
Acute Proliferative Glomerulonephritis	Acute Glomerulonephritis With Lesion Of Proliferative Glomerulonephritis Acute Post-Streptococcal Glomerulonephritis
Oligomeganephronia	Oligomeganephronic Renal Hypoplasia Oligomeganephronic Hypoplasia Of Kidney
Nephrotic Syndrome, Type 21	NPHS21 Nephrotic Syndrome Type 21 Nephrotic Syndrome 21
X-Linked Alport Syndrome	Nephropathy And Deafness, X-Linked
Nephrotic Syndrome, Type 10	NPHS10 Nephrotic Syndrome Type 10 Idiopathic Steroid-Sensitive Nephrotic Syndrome Nephrotic Syndrome 10
Schimke Immunoosseous Dysplasia	Schimke Immuno-Osseous Dysplasia SIOD Immunoosseous Dysplasia, Schimke Type Schimke Syndrome Immunoosseous Dysplasia Schimke Type Spondyloepiphyseal Dysplasia - Nephrotic Syndrome Spondyloepiphyseal Dysplasia Nephrotic Syndrome Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
Plasmodium Malariae Malaria	Quartan Malaria Malaria By Plasmodium Malariae Nephrotic Syndrome Of Quartan Malaria Malaria Nephrosis Malarial Nephrosis Nephrotic Syndrome In Malaria Quartan Nephrosis
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Mesangial Proliferative Glomerulonephritis	Glomerulonephritis - Mesangial Proliferative Mesangial Proliferative Gn Mesangioproliferative Glomerulonephritis Glomerulonephritis Mesangial Proliferative
Autosomal Dominant Alport Syndrome	Alport Syndrome, Autosomal Dominant Alport Syndrome Dominant Type Renal Failure And Sensorineural Hearing Loss Alport Syndrome, Dominant Type
Galloway-Mowat Syndrome 1	Galloway Syndrome Nephrosis-Neuronal Dysmigration Syndrome Nephrosis-Microcephaly Syndrome Camos Scar5 GAMOS1 Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Microcephaly, Hiatal Hernia And Nephrotic Syndrome Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly Scar5, Formerly Spinocerebellar Ataxia Autosomal Recessive 5 Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities Camos Syndrome Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome Galloway-Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 5 Galloway Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive 5
Renal Hypertension	Hypertension Renal Hypertension, Renal
Autoimmune Disease Of Urogenital Tract
Membranoproliferative Glomerulonephritis	Mesangiocapillary Glomerulonephritis Dense Deposit Disease Membranoproliferative Glomerulonephritis Type 2 Primary Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis, Type Ii Glomerulonephritis, Membranoproliferative Chronic Glomerulonephritis, Lobular Lobular Glomerulonephritis Ddd Glomerulonephritis Membranoproliferative Type 2 Mpgn 2 Membranoproliferative Glomerulonephritis Type Ii Mesangiocapillary Glomerulonephritis Type 2 Mpgn Primary Mpgn Glomerulonephritis Membranoproliferative Membranoproliferative Glomerulonephritis, Type Ii
Ureteral Disease	Ureteral Diseases Ureteral Disorders Disorder Of Ureter
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09487	NPHS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NPHS2	VGNC	VGNC:54153
Macaca mulatta	NPHS2	VGNC	VGNC:75167
Rattus norvegicus	NPHS2	RGD	RGD:620461
Felis catus	NPHS2	VGNC	VGNC:63869
Bos taurus	NPHS2	VGNC	VGNC:32204
Mus musculus	NPHS2	MGD	MGI:2157018
Others	NPHS2	NCBI