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

    Gene ID: 112476, updated on 2-Dec-2016
    Official Symbol
    PRRT2provided by HGNC
    Official Full Name
    proline rich transmembrane protein 2provided by HGNC
    Primary source
    HGNC:HGNC:30500
    See related
    Ensembl:ENSG00000167371 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]
    Orthologs
    Location:
    16p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (29811856..29815920)
    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 LOC107984837 Neighboring gene MYC associated zinc finger protein 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)

    ClinGen Genome Curation Page
    Haploinsufficency

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

    ClinGen 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
    PubMed 
    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
     
    membrane IBA
    Inferred from Biological aspect of Ancestor
    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
    dispanin subfamily B member 3
    dystonia 10
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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
      Related
      ENSP00000456226, OTTHUMP00000255955, ENST00000567659, OTTHUMT00000435560
      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein
    2. NM_001256443.1NP_001243372.1  proline-rich transmembrane protein 2 isoform 3

      See identical proteins and their annotated locations for 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:258296
      CD225; Interferon-induced transmembrane protein
    3. NM_145239.2NP_660282.2  proline-rich transmembrane protein 2 isoform 1

      See identical proteins and their annotated locations for 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:258330
      CD225; Interferon-induced transmembrane protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      29811856..29815920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545716.2XP_011544018.1  

      See identical proteins and their annotated locations for XP_011544018.1

      UniProtKB/Swiss-Prot
      Q7Z6L0
      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein
    2. XM_017022889.1XP_016878378.1  

      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein
    3. XM_017022887.1XP_016878376.1  

      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein
    4. XM_011545715.2XP_011544017.1  

      See identical proteins and their annotated locations for XP_011544017.1

      UniProtKB/Swiss-Prot
      Q7Z6L0
      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein
    5. XM_017022888.1XP_016878377.1  

      UniProtKB/Swiss-Prot
      Q7Z6L0
      Related
      ENSP00000458291, OTTHUMP00000278443, ENST00000572820, OTTHUMT00000481518
      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

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