nphs2 NPHS2 stomatin family member, podocin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: nphs2provided by ZNC
Official Full Name: NPHS2 stomatin family member, podocinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-051102-2
See related: Ensembl:ENSDARG00000042850 AllianceGenome:ZFIN:ZDB-GENE-051102-2
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: nphs2l; si:dkey-171o17.6
Summary: Acts upstream of or within glomerular filtration and pronephric glomerulus development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in pronephric glomerular basement membrane; pronephric glomerulus; pronephric podocyte; pronephros; and renal glomerulus. Used to study proteinuria. Human ortholog(s) of this gene implicated in nephrotic syndrome type 2. Orthologous to human NPHS2 (NPHS2 stomatin family member, podocin). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 22

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	22	NC_007133.7 (17251275..17257843, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	22	NC_007133.6 (17225005..17231785, complement)

Chromosome 22 - NC_007133.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lmx1b and FoxC have roles in regulating podocin expression in podocytes
Title: Lmx1b and FoxC combinatorially regulate podocin expression in podocytes.
Nephrin and podocin were specifically expressed in pronephric podocytes and required for the development of pronephric podocyte cell structure.
Title: Organization of the pronephric filtration apparatus in zebrafish requires Nephrin, Podocin and the FERM domain protein Mosaic eyes.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within glomerular filtration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glomerulus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pronephric glomerulus development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pronephric glomerulus development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: podocin

Names: nephrosis 2, idiopathic, steroid-resistant (podocin)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001018145.2 → NP_001018155.2 podocin

Status: VALIDATED

Source sequence(s)

CR381682

UniProtKB/TrEMBL

A0A8M1N610, A4FVJ0, F6NK55

Related

ENSDARP00000062890.6, ENSDART00000062891.6

Conserved Domains (2) summary

smart00244
Location:135 → 299

PHB; prohibitin homologues

cl19107
Location:134 → 356

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007133.7 Reference GRCz11 Primary Assembly

Range

17251275..17257843 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_009296250.4 → XP_009294525.1 podocin isoform X1

See identical proteins and their annotated locations for XP_009294525.1

UniProtKB/TrEMBL

A0A8M1N610, A4FVJ0, F6NK55

Conserved Domains (2) summary

smart00244
Location:135 → 299

PHB; prohibitin homologues

cl19107
Location:134 → 356

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily