Details for: NPHS2

Gene ID: 7827

Symbol: NPHS2

Ensembl ID: ENSG00000116218

Description: NPHS2 stomatin family member, podocin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 5.3648
    Cell Significance Index: -2.2100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 5.3518
    Cell Significance Index: 42.7300
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 2.1237
    Cell Significance Index: 18.0500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.6968
    Cell Significance Index: 41.1000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.6292
    Cell Significance Index: 27.8500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0195
    Cell Significance Index: 52.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.7759
    Cell Significance Index: 47.5700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.6157
    Cell Significance Index: 19.7200
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.5516
    Cell Significance Index: 6.0100
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.4022
    Cell Significance Index: 4.5000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3366
    Cell Significance Index: 8.8500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.3191
    Cell Significance Index: 6.6200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.3052
    Cell Significance Index: 4.3700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2991
    Cell Significance Index: 13.5600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2600
    Cell Significance Index: 49.4800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2391
    Cell Significance Index: 8.3100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2280
    Cell Significance Index: 6.5700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1338
    Cell Significance Index: 8.0300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1146
    Cell Significance Index: 2.4400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1114
    Cell Significance Index: 11.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1066
    Cell Significance Index: 96.2400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1018
    Cell Significance Index: 11.0800
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.0798
    Cell Significance Index: 0.9200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0728
    Cell Significance Index: 0.6700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0642
    Cell Significance Index: 11.5700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0624
    Cell Significance Index: 10.1500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0471
    Cell Significance Index: 3.2600
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.0234
    Cell Significance Index: 0.3400
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.0227
    Cell Significance Index: 0.2200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0205
    Cell Significance Index: 0.5100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0193
    Cell Significance Index: 0.6100
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.0161
    Cell Significance Index: 0.1900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0126
    Cell Significance Index: 8.7000
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.0097
    Cell Significance Index: 0.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0091
    Cell Significance Index: 0.3200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0081
    Cell Significance Index: 1.0000
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.0051
    Cell Significance Index: 0.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0023
    Cell Significance Index: 0.0600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0020
    Cell Significance Index: 0.0300
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.0015
    Cell Significance Index: 0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0014
    Cell Significance Index: 2.6000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0012
    Cell Significance Index: 1.6800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0011
    Cell Significance Index: 1.6700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.4600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0005
    Cell Significance Index: -0.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0008
    Cell Significance Index: -0.0200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0014
    Cell Significance Index: -0.2800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0020
    Cell Significance Index: -1.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0029
    Cell Significance Index: -1.8500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0030
    Cell Significance Index: -2.2100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0030
    Cell Significance Index: -2.2200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0031
    Cell Significance Index: -1.4200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0037
    Cell Significance Index: -0.0800
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0037
    Cell Significance Index: -0.0400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0038
    Cell Significance Index: -2.1500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0039
    Cell Significance Index: -1.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0058
    Cell Significance Index: -1.6600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0080
    Cell Significance Index: -1.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0082
    Cell Significance Index: -1.4000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0082
    Cell Significance Index: -1.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0088
    Cell Significance Index: -0.2500
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0099
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0107
    Cell Significance Index: -2.2500
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0107
    Cell Significance Index: -0.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0125
    Cell Significance Index: -1.3000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0139
    Cell Significance Index: -0.5700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0144
    Cell Significance Index: -0.7300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0157
    Cell Significance Index: -1.6000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0164
    Cell Significance Index: -1.9100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0184
    Cell Significance Index: -0.3600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0185
    Cell Significance Index: -2.1200
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0192
    Cell Significance Index: -0.2900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0194
    Cell Significance Index: -0.5200
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.0229
    Cell Significance Index: -0.2200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0240
    Cell Significance Index: -1.0600
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.0240
    Cell Significance Index: -0.2800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0249
    Cell Significance Index: -1.5300
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: -0.0249
    Cell Significance Index: -0.1300
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0272
    Cell Significance Index: -0.2600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0276
    Cell Significance Index: -1.5500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0291
    Cell Significance Index: -0.7100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0293
    Cell Significance Index: -1.1100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0305
    Cell Significance Index: -0.5100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0308
    Cell Significance Index: -1.0800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0316
    Cell Significance Index: -0.4500
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.0325
    Cell Significance Index: -0.3400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0326
    Cell Significance Index: -2.2000
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0326
    Cell Significance Index: -0.4300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0329
    Cell Significance Index: -0.3400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0340
    Cell Significance Index: -1.0000
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.0344
    Cell Significance Index: -0.4900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0345
    Cell Significance Index: -1.1000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0345
    Cell Significance Index: -1.1300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0355
    Cell Significance Index: -0.9500
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: -0.0356
    Cell Significance Index: -0.0800
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.0357
    Cell Significance Index: -0.4500
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: -0.0396
    Cell Significance Index: -0.3900
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.0402
    Cell Significance Index: -0.4500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0410
    Cell Significance Index: -0.5600
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: -0.0445
    Cell Significance Index: -0.4600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** NPHS2 is a member of the stomatin family, a group of proteins known for their involvement in various cellular processes, including protein binding, membrane organization, and gene expression regulation. Podocin is specifically expressed in podocytes, the specialized cells that line the glomerular filtration barrier, as well as in other cell types, such as erythrocytes, endothelial cells, and epithelial cells. The protein is characterized by its unique structure, which consists of a conserved N-terminal domain, a variable C-terminal domain, and a characteristic "hairpin" structure. **Pathways and Functions:** NPHS2 plays a critical role in maintaining the integrity and function of the glomerular filtration barrier through its involvement in several key pathways: 1. **Slit diaphragm formation and maintenance:** Podocin is a key component of the slit diaphragm, a protein complex that regulates the passage of ions, nutrients, and waste products between the bloodstream and the glomerular lumen. 2. **Actin cytoskeleton organization:** Podocin interacts with actin filaments to regulate the organization and dynamics of the podocyte cytoskeleton, which is essential for maintaining the structural integrity of the glomerular filtration barrier. 3. **Cell-cell communication:** Podocin has been shown to interact with other proteins, such as nephrin and podocin-binding protein (NBP), to regulate cell-cell communication and maintain the integrity of the slit diaphragm. 4. **Gene expression regulation:** Podocin has been implicated in the regulation of gene expression in podocytes, including the regulation of genes involved in the maintenance of the glomerular filtration barrier. **Clinical Significance:** Mutations in the NPHS2 gene have been identified as a leading cause of congenital nephrotic syndrome of the Finnish type, a severe and life-threatening form of the disease. This condition is characterized by excessive proteinuria, hypoalbuminemia, and edema, and is often associated with renal failure and cardiovascular complications. The identification of NPHS2 mutations has led to the development of genetic testing and screening programs for this condition, which has improved the diagnosis and management of nephrotic syndrome. In addition to its role in congenital nephrotic syndrome, NPHS2 mutations have also been implicated in other forms of nephrotic syndrome, including focal segmental glomerulosclerosis (FSGS) and steroid-resistant nephrotic syndrome. Further research is needed to fully understand the mechanisms underlying these conditions and to develop effective therapeutic strategies for patients with NPHS2-related nephrotic syndrome. In conclusion, NPHS2 is a critical gene that plays a pivotal role in maintaining the integrity and function of the glomerular filtration barrier. Further research is needed to fully understand the mechanisms underlying NPHS2-related nephrotic syndrome and to develop effective therapeutic strategies for patients with this condition.

Genular Protein ID: 1846799072

Symbol: PODO_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10742096

Title: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

PubMed ID: 10742096

DOI: 10.1038/74166

PubMed ID: 10802674

Title:

PubMed ID: 10802674

DOI: 10.1038/75532

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11562357

Title: Interaction with podocin facilitates nephrin signaling.

PubMed ID: 11562357

DOI: 10.1074/jbc.c100452200

PubMed ID: 23648087

Title: Characterization of a short isoform of the kidney protein podocin in human kidney.

PubMed ID: 23648087

DOI: 10.1186/1471-2369-14-102

PubMed ID: 12464671

Title: NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

PubMed ID: 12464671

DOI: 10.1172/jci16242

PubMed ID: 12687458

Title: NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.

PubMed ID: 12687458

DOI: 10.1007/s00467-003-1120-6

PubMed ID: 15253708

Title: NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

PubMed ID: 15253708

DOI: 10.1111/j.1523-1755.2004.00776.x

PubMed ID: 15954915

Title: Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.

PubMed ID: 15954915

DOI: 10.1111/j.1523-1755.2005.00400.x

PubMed ID: 17899208

Title: NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

PubMed ID: 17899208

DOI: 10.1007/s00467-007-0595-y

PubMed ID: 20798252

Title: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

PubMed ID: 20798252

DOI: 10.2215/cjn.01190210

PubMed ID: 21722858

Title: Disruption of PTPRO causes childhood-onset nephrotic syndrome.

PubMed ID: 21722858

DOI: 10.1016/j.ajhg.2011.05.026

PubMed ID: 20947785

Title: Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

PubMed ID: 20947785

DOI: 10.2215/cjn.03770410

PubMed ID: 22578956

Title: Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.

PubMed ID: 22578956

PubMed ID: 22565185

Title: A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

PubMed ID: 22565185

DOI: 10.1016/j.gene.2012.04.063

PubMed ID: 23913389

Title: Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.

PubMed ID: 23913389

DOI: 10.4238/2013.june.24.1

PubMed ID: 24072147

Title: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

PubMed ID: 24072147

PubMed ID: 23595123

Title: A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

PubMed ID: 23595123

DOI: 10.1038/jhg.2013.27

PubMed ID: 23242530

Title: NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

PubMed ID: 23242530

DOI: 10.1007/s00467-012-2379-2

PubMed ID: 23800802

Title: NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

PubMed ID: 23800802

DOI: 10.1007/s00467-013-2542-4

PubMed ID: 24227627

Title: NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

PubMed ID: 24227627

DOI: 10.1002/humu.22485

PubMed ID: 24509478

Title: Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

PubMed ID: 24509478

DOI: 10.1038/ng.2898

PubMed ID: 26420286

Title: NPHS2 mutations account for only 15% of nephrotic syndrome cases.

PubMed ID: 26420286

DOI: 10.1186/s12881-015-0231-9

PubMed ID: 27004616

Title: Expansion of phenotype and genotypic data in CRB2-related syndrome.

PubMed ID: 27004616

DOI: 10.1038/ejhg.2016.24

Sequence Information:

  • Length: 383
  • Mass: 42201
  • Checksum: BBB57783C840F752
  • Sequence:
  • MERRARSSSR ESRGRGGRTP HKENKRAKAE RSGGGRGRQE AGPEPSGSGR AGTPGEPRAP 
    AATVVDVDEV RGSGEEGTEV VALLESERPE EGTKSSGLGA CEWLLVLISL LFIIMTFPFS 
    IWFCVKVVQE YERVIIFRLG HLLPGRAKGP GLFFFLPCLD TYHKVDLRLQ TLEIPFHEIV 
    TKDMFIMEID AICYYRMENA SLLLSSLAHV SKAVQFLVQT TMKRLLAHRS LTEILLERKS 
    IAQDAKVALD SVTCIWGIKV ERIEIKDVRL PAGLQHSLAV EAEAQRQAKV RMIAAEAEKA 
    ASESLRMAAE ILSGTPAAVQ LRYLHTLQSL STEKPSTVVL PLPFDLLNCL SSPSNRTQGS 
    LPFPSPSKPV EPLNPKKKDS PML

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.