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Symbol report for NPC2

Stable symbol

HGNC data for NPC2

Approved symbol
NPC2
Approved name

NPC intracellular cholesterol transporter 2

Locus type
gene with protein product
HGNC ID
HGNC:14537
Symbol status
Approved
Previous names
Niemann-Pick disease, type C2
Alias symbols
HE1
NP-C2
EDDM1
Alias names
epididymal protein 1
Chromosomal location
14q24.3
Gene groups
Gene resources for NPC2
Ensembl
ENSG00000119655 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
10577 Curated
UCSC
uc010tus.3
Alliance of Genome Resources
HGNC:14537
Nucleotide resources for NPC2
MANE Select
NM_006432.5
ENST00000555619.6
INSDC
X67698 Curated
ENAGenBankDDBJ
RefSeq
NM_006432 Curated
NCBI sequence viewer
Protein resources for NPC2
UniProt/Swiss-Prot
P61916
InterProPDBeReactome
AlphaFold
AF-P61916-F1
Orthologs from selected species for NPC2
Bos taurus
NPC2 VGNC:32196 VGNC
Canis familiaris
NPC2 VGNC:43914 VGNC
Equus caballus
NPC2 VGNC:20833 VGNC
Felis catus
NPC2 VGNC:63866 VGNC
Macaca mulatta
NPC2 VGNC:75175 VGNC
Mus musculus
Npc2 MGI:1915213 Curated
Pan troglodytes
NPC2 VGNC:10310 VGNC
Rattus norvegicus
Npc2 RGD:628756
Sus scrofa
NPC2 VGNC:90843 VGNC
Clinical resources for NPC2
OMIM
601015
GenCC
HGNC:14537
MedlinePlus
Search via NPC2
DECIPHER
Search via NPC2
ClinGen
Search via HGNC:14537
Genetic Testing Registry
Search via NCBI Gene ID 10577
ClinVar
Search via NCBI Gene ID 10577
dbVar
Search via NCBI Gene ID 10577
Orphanet
123870
Other resources for NPC2
AmiGO
Search via P61916
QuickGO
Search via P61916
BioGPS
Search via NCBI Gene ID 10577
GeneCards
Search via HGNC:14537
Monarch
Search via HGNC:14537
WikiGenes
Search via NCBI Gene ID 10577
References for NPC2