NPC2 NPC intracellular cholesterol transporter 2 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: NPC2provided by VGNC
Official Full Name: NPC intracellular cholesterol transporter 2provided by VGNC
Primary source: VGNC:VGNC:43914
See related: Ensembl:ENSCAFG00845014286
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Also known as: CE1
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 8

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	8	NC_051812.1 (47868101..47877468, complement)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	8	NC_006590.4 (47325075..47334437, complement)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	8	NC_049229.1 (47958527..47967885, complement)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	8	NC_049268.1 (47539316..47548676, complement)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	8	NC_049749.1 (47560539..47569881, complement)

Chromosome 8 - NC_051812.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We report identification and immunologic characterization of canine NPC2 protein, a homolog of human and bovine NPC2 proteins, as a dog allergen.
Title: The NPC2 protein: A novel dog allergen.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables cholesterol binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol efflux	IEA Inferred from Electronic Annotation more info	PubMed
involved_in intracellular cholesterol transport	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: NPC intracellular cholesterol transporter 2

Names: epididymal secretory protein E1; niemann Pick type C2 protein homolog

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_001003242.2 → NP_001003242.2 NPC intracellular cholesterol transporter 2 precursor

Status: VALIDATED

Source sequence(s)

DN346847, DN348892, DN349868, DN392295

UniProtKB/TrEMBL

A0A8C0JQN0, A0A8C0P0J0, A0A8C0P355, A0A8I3NVN8, A0A8I3PDV0

Related

ENSCAFP00845020117.1, ENSCAFT00845025548.1

Conserved Domains (1) summary

cd00916
Location:24 → 145

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 ...