Nepn nephrocan [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nepnprovided by MGI
Official Full Name: nephrocanprovided by MGI
Primary source: MGI:MGI:1913900
See related: Ensembl:ENSMUSG00000038624 AllianceGenome:MGI:1913900
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Npn; periolin; 5730521E12Rik
Summary: Acts upstream of or within extracellular matrix organization; negative regulation of transcription by RNA polymerase II; and negative regulation of transforming growth factor beta receptor signaling pathway. Located in extracellular space and interstitial matrix. Is expressed in several structures, including embryo endoderm; genitourinary system; gut; humerus; and musculature. Orthologous to human NEPNP (nephrocan, pseudogene). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney adult (RPKM 8.0), subcutaneous fat pad adult (RPKM 0.6) and 1 other tissue See more
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Genomic context

Location:: 10 B3; 10 26.6 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (52264961..52280707)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (52388864..52404611)

Chromosome 10 - NC_000076.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A regulatory network, incluing Sox17 and the retinoic acid receptor, controls nephrocan expression and midgut patterning.
Title: A regulatory network controls nephrocan expression and midgut patterning.
NPN is a novel member of the SLRP family that may play important roles in kidney development and pathophysiology by functioning as an endogenous inhibitor of TGF-beta signaling
Title: Nephrocan, a novel member of the small leucine-rich repeat protein family, is an inhibitor of transforming growth factor-beta signaling.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3)

General gene information

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Markers

Nepn (e-PCR), detects polymorphism
- UniSTS:516142

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in interstitial matrix	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nephrocan

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_025684.3 → NP_079960.1 nephrocan precursor

See identical proteins and their annotated locations for NP_079960.1

Status: VALIDATED

Source sequence(s)

AC153526

Consensus CDS

CCDS23840.1

UniProtKB/Swiss-Prot

Q9CQ76

Related

ENSMUSP00000070130.5, ENSMUST00000067085.7

Conserved Domains (3) summary

cd00116
Location:210 → 425

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:188 → 211

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:367 → 426

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

52264961..52280707

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006512818.5 → XP_006512881.1 nephrocan isoform X1

Conserved Domains (2) summary

PRK15370
Location:271 → 474

PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP

sd00033
Location:237 → 260

LRR_RI; leucine-rich repeat [structural motif]
XM_006512819.5 → XP_006512882.1 nephrocan isoform X2

Conserved Domains (2) summary

PRK15370
Location:161 → 364

PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP

sd00033
Location:127 → 150

LRR_RI; leucine-rich repeat [structural motif]