Nephrin

Alternative Names

  • NPHS1
  • NPHN
  • Renal Glomerulus-Specific Cell Adhesion Receptor

Associated Diseases

Nephrotic Syndrome, Type 1
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OMIM Number

602716

NCBI Gene ID

4864

Uniprot ID

O60500

Length

43,916 bases

No. of Exons

29

No. of isoforms

2

Protein Name

Nephrin

Molecular Mass

134742 Da

Amino Acid Count

1241

Genomic Location

chr19:35,825,372-35,869,287

Gene Map Locus
19q13.12

Description

Nephrin is the protein product of the NPHS1 gene. It is a transmembrane protein of the immunoglobulin superfamily, containing 1241 amino acids. Nephrin is produced by glomerular podocytes, and expressed in the visceral epithelial cells, suggesting that it plays an important role in the development or maintenance of the glomerular filtration barrier. Defects in this protein are the cause of nephrotic syndrome type 1 (NPHS1), an autosomal recessive disease characterized by proteinuria, hypoalbuminemia, hyperlipidemia, and edema.

Two common mutations in the NPHS1 gene have been identified in the Finnish population in connection with NPHS1; the Fin-major and the Fin-minor. The Fin-major mutation results in a frameshift and a stop codon in exon 2 and a truncated protein of only 90 amino acids, while the Fin-minor mutation is a nonsense mutation in exon 26 and leads to a truncated 1109-residue protein. Insertions, deletions, and nonsense and missense mutations in this gene have been identified in non-Finnish patients.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004646.3:c.1134G>AOman; United Arab Emir...NC_000019.10:g.35848673C>TLikely PathogenicPathogenicNephrotic Syndrome, Type 1NG_013356.2:g.25615G>A; NM_004646.3:c.1134G>A; NP_004637.1:p.Trp378Ter38683386956426
NM_004646.3:c.1170+2T>CTunisiachr19:35848635PathogenicNephrotic Syndrome, Type 1NG_013356.2:g.25653T>C; NM_004646.3:c.1170+2T>C
NM_004646.3:c.1317T>GLebanonchr19:35848164PathogenicNephrotic Syndrome, Type 1NG_013356.2:g.26124T>G; NM_004646.3:c.1317T>G; NP_004637.1:p.Tyr439Ter776391938
NM_004646.3:c.1379G>ATunisiaNC_000019.10:g.35848102C>TLikely Pathogenic, PathogenicPathogenicNephrotic Syndrome, Type 1NG_013356.2:g.26186G>A; NM_004646.3:c.1379G>A; NP_004637.1:p.Arg460Gln38683388056438
NM_004646.3:c.1847A>GTunisiachr19:35845451PathogenicNephrotic Syndrome, Type 1NG_013356.2:g.28837A>G; NM_004646.3:c.1847A>G; NP_004637.1:p.Asp616Gly
NM_004646.3:c.614_621delinsTTTunisiachr19:35849641-35849648PathogenicPathogenicNephrotic Syndrome, Type 1NG_013356.2:g.24640_24647delinsTT; NM_004646.3:c.614_621delinsTT; NP_004637.1:p.Thr205_Arg207delinsIle155576360356518
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