Homo sapiens NPHS2 stomatin family member, podocin (NPHS2), transcript - Nucleotide

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A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome. [Kidney Int. 2024]
A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.
Kuzmuk V, Pranke I, Rollason R, Butler M, Ding WY, Beesley M, Waters AM, Coward RJ, Sessions R, Tuffin J, et al. Kidney Int. 2024 Apr; 105(4):744-758. Epub 2023 Nov 22.
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. [Pediatr Nephrol. 2024]
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pantel D, Mertens ND, Schneider R, Hölzel S, Kari JA, Desoky SE, Shalaby MA, Lim TY, Sanna-Cherchi S, Shril S, et al. Pediatr Nephrol. 2024 Feb; 39(2):455-461. Epub 2023 Sep 5.
Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children. [Mol Biol Rep. 2023]
Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children.
Al-Azzawy MF, Al-Haggar M, ElSaid AM, El-Khawaga OY. Mol Biol Rep. 2023 May; 50(5):4481-4490. Epub 2023 Apr 4.

RefSeq alternative splicing
See 8 reference mRNA sequence splice variants for the NPHS2 gene.
RefSeq protein product
See the reference protein sequence for podocin isoform 2 (NP_001284504.1).

Protein
Protein sequence from Nucleotide coding region
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Taxonomy Links for Nucleotide (Select 2743184720) (1)
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Taxonomy Links for Gene (Select 13074) (1)
Taxonomy
RecName: Full=Transient receptor potential cation channel subfamily V member 6; ...
RecName: Full=Transient receptor potential cation channel subfamily V member 6; Short=TrpV6; AltName: Full=CaT-like; Short=CaT-L; AltName: Full=Calcium transport protein 1; Short=CaT1; AltName: Full=Epithelial calcium channel 2; Short=ECaC2
gi|62901469|sp|Q9H1D0.2|TRPV6_HUMAN

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Nucleotide