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Gene: PRRT2 (proline rich transmembrane protein 2) Homo sapiens
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Symbol: PRRT2
Name: proline rich transmembrane protein 2
CRRD ID: 1602444
Description: Predicted to have syntaxin-1 binding activity. Involved in neuromuscular process controlling posture. Localizes to plasma membrane. Implicated in benign familial neonatal epilepsy and episodic kinesigenic dyskinesia 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BFIC2; BFIS2; dispanin subfamily B member 3; DKFZp547J199; DSPB3; dystonia 10; DYT10; EKD1; FICCA; FLJ25513; ICCA; IFITMD1; infantile convulsions and paroxysmal choreoathetosis; interferon induced transmembrane protein domain containing 1; PKC; proline-rich transmembrane protein 2
Orthologs:
Mus musculus (house mouse) : Prrt2 (proline-rich transmembrane protein 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Prrt2 (proline-rich transmembrane protein 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Prrt2 (proline rich transmembrane protein 2)
Pan paniscus (bonobo/pygmy chimpanzee) : PRRT2 (proline rich transmembrane protein 2)
Canis lupus familiaris (dog) : PRRT2 (proline rich transmembrane protein 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Prrt2 (proline rich transmembrane protein 2)
Sus scrofa (pig) : PRRT2 (proline rich transmembrane protein 2)
Chlorocebus sabaeus (African green monkey) : PRRT2 (proline rich transmembrane protein 2)
Heterocephalus glaber (naked mole-rat) : Prrt2 (proline rich transmembrane protein 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1629,811,382 - 29,815,892 (+)EnsemblGRCh38hg38GRCh38
GRCh381629,812,193 - 29,815,920 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371629,823,409 - 29,827,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,730,910 - 29,734,703 (+)NCBINCBI36hg18NCBI36
Celera1672,969,059 - 72,972,852 (-)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1627,484,047 - 27,487,840 (+)NCBIHuRef
CHM1_11631,039,218 - 31,043,011 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PRRT2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1602444
Created: 2007-04-27
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.