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PRRT2 proline-rich transmembrane protein 2 [ Homo sapiens (human) ]

Gene ID: 112476, updated on 7-Aug-2014
Official Symbol
PRRT2provided by HGNC
Official Full Name
proline-rich transmembrane protein 2provided by HGNC
Primary source
HGNC:30500
See related
Ensembl:ENSG00000167371; HPRD:13995; MIM:614386; Vega:OTTHUMG00000177142
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1
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]
See PRRT2 in Epigenomics, MapViewer
Location:
16p11.2
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (29812088..29815881)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29823409..29827202)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene kinesin family member 22 Neighboring gene uncharacterized LOC102723586 Neighboring gene MYC-associated zinc finger protein (purine-binding transcription factor) Neighboring gene PAXIP1 associated glutamate-rich protein 1 Neighboring gene major vault protein Neighboring gene CDP-diacylglycerol--inositol 3-phosphatidyltransferase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Dystonia 10 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-07-18)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-07-18)

ISCA Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25513, DKFZp547J199

Gene Ontology Provided by GOA

Process Evidence Code Pubs
neuromuscular process controlling posture IMP
Inferred from Mutant Phenotype
more info
 
response to biotic stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
proline-rich transmembrane protein 2
Names
proline-rich transmembrane protein 2
dispanin subfamily B member 3
infantile convulsions and paroxysmal choreoathetosis
interferon induced transmembrane protein domain containing 1

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.

Genomic

  1. NG_032039.1 

    Range
    5001..8794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256442.1NP_001243371.1  proline-rich transmembrane protein 2 isoform 2

    See proteins identical to NP_001243371.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 3' end compared to variant 1, and encodes a longer isoform (2) compared to isoform 1.
    Source sequence(s)
    AK098379, AK292393, BC053594, BG702892, DC332235, H46459
    Consensus CDS
    CCDS58445.1
    UniProtKB/Swiss-Prot
    Q7Z6L0
    Conserved Domains (1) summary
    pfam04505
    Location:254330
    Blast Score: 260
    Dispanin; Interferon-induced transmembrane protein
  2. NM_001256443.1NP_001243372.1  proline-rich transmembrane protein 2 isoform 3

    See proteins identical to NP_001243372.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs at the 3' end compared to variant 1, and encodes a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK092265, AK098379, BC053594, BG702892, DA346262, DC332235, H46459
    Consensus CDS
    CCDS58446.1
    UniProtKB/Swiss-Prot
    Q7Z6L0
    Related
    ENSP00000300797, OTTHUMP00000255956, ENST00000300797, OTTHUMT00000435562
    Conserved Domains (1) summary
    pfam04505
    Location:254295
    Blast Score: 140
    Dispanin; Interferon-induced transmembrane protein
  3. NM_145239.2NP_660282.2  proline-rich transmembrane protein 2 isoform 1

    See proteins identical to NP_660282.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
    Source sequence(s)
    AK098379, BC053594, BG702892, DC332235, H46459
    Consensus CDS
    CCDS10654.1
    UniProtKB/Swiss-Prot
    Q7Z6L0
    Related
    ENSP00000351608, OTTHUMP00000162999, ENST00000358758, OTTHUMT00000255161
    Conserved Domains (1) summary
    pfam04505
    Location:254330
    Blast Score: 263
    Dispanin; Interferon-induced transmembrane protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    29812088..29815881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721006.1XP_006721069.1  

    See proteins identical to XP_006721069.1

    UniProtKB/Swiss-Prot
    Q7Z6L0
    Conserved Domains (1) summary
    pfam04505
    Location:254330
    Blast Score: 263
    Dispanin; Interferon-induced transmembrane protein

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    27484047..27487840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    31039218..31043011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)