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Symbol report for PRRT2

Stable symbol

HGNC data for PRRT2

Approved symbol
PRRT2
Approved name

proline rich transmembrane protein 2

Locus type
gene with protein product
HGNC ID
HGNC:30500
Symbol status
Approved
Previous symbols
ICCA
DYT10
Previous names
infantile convulsions and paroxysmal choreoathetosis
dystonia 10
proline-rich transmembrane protein 2
Alias symbols
FLJ25513
DKFZp547J199
IFITMD1
FICCA
DSPB3
PKC
EKD1
Alias names
interferon induced transmembrane protein domain containing 1
dispanin subfamily B member 3
Episodic kinesigenic dyskinesia 1
Paroxysmal kinesigenic dyskinesia
Chromosomal location
16p11.2
Gene groups
Gene resources for PRRT2
Ensembl
ENSG00000167371 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
112476 Curated
UCSC
uc002due.4
Alliance of Genome Resources
HGNC:30500
Nucleotide resources for PRRT2
MANE Select
NM_145239.3
ENST00000358758.12
INSDC
BC011405 Curated
ENAGenBankDDBJ
RefSeq
NM_145239 Curated
NCBI sequence viewer
CCDS
CCDS10654 Curated
CCDS58445 Curated
CCDS58446 Curated
Protein resources for PRRT2
UniProt/Swiss-Prot
Q7Z6L0
InterProPDBeReactome
AlphaFold
AF-Q7Z6L0-F1
Orthologs from selected species for PRRT2
Canis familiaris
PRRT2 VGNC:111665 VGNC
Equus caballus
PRRT2 VGNC:112283 VGNC
Macaca mulatta
PRRT2 VGNC:97811 VGNC
Mus musculus
Prrt2 MGI:1916267 Curated
Pan troglodytes
PRRT2 VGNC:8997 VGNC
Rattus norvegicus
Prrt2 RGD:1564195
Clinical resources for PRRT2
OMIM
614386
GenCC
HGNC:30500
MedlinePlus
Search via PRRT2
DECIPHER
Search via PRRT2
ClinGen
Search via HGNC:30500
Genetic Testing Registry
Search via NCBI Gene ID 112476
ClinVar
Search via NCBI Gene ID 112476
dbVar
Search via NCBI Gene ID 112476
Orphanet
291703
Other resources for PRRT2
AmiGO
Search via Q7Z6L0
QuickGO
Search via Q7Z6L0
BioGPS
Search via NCBI Gene ID 112476
GeneCards
Search via HGNC:30500
Monarch
Search via HGNC:30500
WikiGenes
Search via NCBI Gene ID 112476
References for PRRT2