Homo sapiens Gene: PRRT2
Summary
InnateDB Gene IDBG-24754.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRRT2
Gene Name proline-rich transmembrane protein 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000167371
Encoded Proteins
proline-rich transmembrane protein 2
proline-rich transmembrane protein 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:29811856-29815880
Strand Forward strand
Band p11.2
Transcripts
ENST00000300797 ENSP00000300797
ENST00000358758 ENSP00000351608
ENST00000572820 ENSP00000458291
ENST00000562148 ENSP00000454634
ENST00000567659 ENSP00000456226
ENST00000567551
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0009607 response to biotic stimulus
GO:0050884 neuromuscular process controlling posture
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0045202 synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.655071
RefSeq NM_001256442 NM_001256443 NM_145239 XM_006721006
HUGO
OMIM
CCDS CCDS10654 CCDS58445 CCDS58446
HPRD 13995
IMGT
EMBL
GenPept
RNA Seq Atlas