1. Gene
  2. NPHS2 - NPHS2 stomatin family member, podocin Gene

NPHS2 - NPHS2 stomatin family member, podocin Gene

Homo sapiens

Also known as PDCN; SRN1

Gene ID: 7827 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
12424224 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

Band_7: SPFH domain / Band 7 family (127 - 299)

  • 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 Reference
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

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

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