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

    Gene ID: 112476, updated on 3-Apr-2024

    Summary

    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; AllianceGenome:HGNC:30500
    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]
    Expression
    Broad expression in brain (RPKM 25.3), ovary (RPKM 15.9) and 16 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PRRT2 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29812193..29815881)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30094359..30098044)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29823514..29827202)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene kinesin family member 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7339 Neighboring gene MVP divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29826183-29826812 Neighboring gene MYC associated zinc finger protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29832188-29832754 Neighboring gene PAXIP1 associated glutamate rich protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29836905-29837477 Neighboring gene major vault protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29856975-29857476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29857477-29857976 Neighboring gene Sharpr-MPRA regulatory region 13449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29871974-29872512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7341 Neighboring gene CDP-diacylglycerol--inositol 3-phosphatidyltransferase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25513, DKFZp547J199

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables syntaxin-1 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in axon terminus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in presynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    proline-rich transmembrane protein 2
    Names
    Benign familial infantile convulsions-2
    Paroxysmal kinesigenic dyskinesia
    dispanin subfamily B member 3
    dystonia 10
    infantile convulsions and paroxysmal choreoathetosis
    interferon induced transmembrane protein domain containing 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_032039.2 RefSeqGene

      Range
      5002..8690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256442.2NP_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)
      AC009133
      Consensus CDS
      CCDS58445.1
      UniProtKB/Swiss-Prot
      Q7Z6L0
      Related
      ENSP00000456226.1, ENST00000567659.3
      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein
    2. NM_001256443.2NP_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)
      AC009133
      Consensus CDS
      CCDS58446.1
      UniProtKB/TrEMBL
      A0A0G2JLL6
      Related
      ENSP00000300797.6, ENST00000300797.7
      Conserved Domains (1) summary
      pfam04505
      Location:258296
      CD225; Interferon-induced transmembrane protein
    3. NM_145239.3NP_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)
      AC009133
      Consensus CDS
      CCDS10654.1
      UniProtKB/Swiss-Prot
      A8K8M8, Q7Z6L0, Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
      UniProtKB/TrEMBL
      A0A0G2JLL6
      Related
      ENSP00000351608.7, ENST00000358758.12
      Conserved Domains (2) summary
      pfam04505
      Location:264330
      CD225; Interferon-induced transmembrane protein
      cl26464
      Location:25216
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      29812193..29815881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545715.4XP_011544017.1  proline-rich transmembrane protein 2 isoform X1

      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
    2. XM_017022888.3XP_016878377.1  proline-rich transmembrane protein 2 isoform X3

      UniProtKB/Swiss-Prot
      A8K8M8, Q7Z6L0, Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
      UniProtKB/TrEMBL
      A0A0G2JLL6
      Related
      ENSP00000458291.2, ENST00000572820.2
      Conserved Domains (2) summary
      pfam04505
      Location:264330
      CD225; Interferon-induced transmembrane protein
      cl26464
      Location:25216
      Atrophin-1; Atrophin-1 family
    3. XM_017022889.3XP_016878378.1  proline-rich transmembrane protein 2 isoform X4

      UniProtKB/TrEMBL
      A0A0G2JLL6
      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein
    4. XM_017022887.3XP_016878376.1  proline-rich transmembrane protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JLL6
      Conserved Domains (1) summary
      pfam04505
      Location:258330
      CD225; Interferon-induced transmembrane protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30094359..30098044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379437.1XP_054235412.1  proline-rich transmembrane protein 2 isoform X1

    2. XM_054379439.1XP_054235414.1  proline-rich transmembrane protein 2 isoform X3

      UniProtKB/Swiss-Prot
      A8K8M8, Q7Z6L0, Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
    3. XM_054379440.1XP_054235415.1  proline-rich transmembrane protein 2 isoform X4

    4. XM_054379438.1XP_054235413.1  proline-rich transmembrane protein 2 isoform X2