Npc2 NPC intracellular cholesterol transporter 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Npc2provided by RGD
Official Full Name: NPC intracellular cholesterol transporter 2provided by RGD
Primary source: RGD:628756
See related: EnsemblRapid:ENSRNOG00000012062 AllianceGenome:RGD:628756
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: re1
Summary: Predicted to enable cholesterol binding activity; cholesterol transfer activity; and enzyme binding activity. Predicted to be involved in cholesterol homeostasis; cholesterol transport; and response to virus. Predicted to act upstream of or within several processes, including cholesterol storage; sterol metabolic process; and sterol transport. Predicted to be located in extracellular space. Predicted to be active in lysosome. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Lung (RPKM 1485.3), Spleen (RPKM 765.8) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 6q31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	6	NC_086024.1 (110128325..110149245, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	6	NC_051341.1 (104397239..104418161, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	6	NC_005105.4 (108467410..108488330, complement)

Chromosome 6 - NC_086024.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NPC2 proved inefficient at modifying robust hepatic non-alcoholic steatohepatitis end-points in a HFHC NASH model. Nonetheless, our data suggest that hepatic ABCA1 expression and reverse cholesterol transport were upregulated by NPC2 treatment, thus presenting putative therapeutic effects in diseases associated with deregulated lipid metabolism.
Title: Niemann-Pick type C2 protein supplementation in experimental non-alcoholic fatty liver disease.
NPC1 and NPC2 are associated with the lamellar bodies of type II pneumocyte cells and function to regulate cholesterol content within this organelle.
Title: Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung.

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General gene information

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Markers

RH143366 (e-PCR)
- UniSTS:232613

RH128345 (e-PCR)
- UniSTS:211653

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol binding	ISO Inferred from Sequence Orthology more info
enables cholesterol transfer activity	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol storage	ISO Inferred from Sequence Orthology more info
involved_in cholesterol transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	ISO Inferred from Sequence Orthology more info
involved_in intracellular cholesterol transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular sterol transport	ISO Inferred from Sequence Orthology more info
involved_in response to virus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sterol metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sterol transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in extracellular space	ISO Inferred from Sequence Orthology more info
is_active_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NPC intracellular cholesterol transporter 2

Names: Niemann Pick type C2; Niemann-Pick disease, type C2; epididymal secretory protein 1; epididymal secretory protein E1

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_173118.2 → NP_775141.2 NPC intracellular cholesterol transporter 2 precursor

See identical proteins and their annotated locations for NP_775141.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000006

UniProtKB/TrEMBL

A6JDY2, F7FJQ3, Q8CHN5

Related

ENSRNOP00000016076.4, ENSRNOT00000016076.7

Conserved Domains (1) summary

cd00916
Location:27 → 148

Npc2_like; Niemann-Pick type C2 (Npc2) is a lysosomal protein in which a mutation in the gene causes a rare form of Niemann-Pick type C disease, an autosomal recessive lipid storage disorder characterized by accumulation of low-density lipoprotein-derived ...