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

    Gene ID: 112476, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See PRRT2 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29812193..29815881)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30094359..30098044)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. Lee YC, et al. PLoS One, 2012. PMID 22870186, Free PMC Article
    2. Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation. Luo C, et al. Neurol Sci, 2013 Nov. PMID 23532549
    3. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. Li HF, et al. Neurology, 2013 Apr 16. PMID 23535490
    4. Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. Tan LC, et al. Eur J Neurol, 2014 Apr. PMID 23551744
    5. Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Heron SE, et al. Epilepsia, 2013 May. PMID 23566103

    See all (144) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of PRRT2 mutation on brain gray matter networks in paroxysmal kinesigenic dyskinesia.
      Title: Effects of PRRT2 mutation on brain gray matter networks in paroxysmal kinesigenic dyskinesia.
    2. Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.
      Title: Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.
    3. Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.
      Title: Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.
    4. The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na[+] channels.
      Title: The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na(+) channels.
    5. PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers.
      Title: PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers.
    6. PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
      Title: PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
    7. A Push-Pull Mechanism Between PRRT2 and beta4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels.
      Title: A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels.
    8. Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
      Title: Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
    9. PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia.
      Title: PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia.
    10. Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
      Title: Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
    Submit: New GeneRIF Correction See all GeneRIFs (118)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Episodic kinesigenic dyskinesia 1
    MedGen: C4552000 OMIM: 128200 GeneReviews: PRRT2-Related Disorder
    		not available
    Infantile convulsions and choreoathetosis
    MedGen: C1865926 OMIM: 602066 GeneReviews: PRRT2-Related Disorder
    		not available
    Seizures, benign familial infantile, 2
    MedGen: C1853995 OMIM: 605751 GeneReviews: PRRT2-Related Disorder
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-12-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-12-14)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of SNARE complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of short-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within neuromuscular process controlling posture IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of calcium-dependent activation of synaptic vesicle fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic vesicle fusion to presynaptic active zone membrane 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

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    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)

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    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_001256442.2 → NP_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:258 → 330
      CD225; Interferon-induced transmembrane protein

    2. NM_001256443.2 → NP_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:258 → 296
      CD225; Interferon-induced transmembrane protein

    3. NM_145239.3 → NP_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:264 → 330
      CD225; Interferon-induced transmembrane protein
      cl26464
      Location:25 → 216
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011545715.4 → XP_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:258 → 330
      CD225; Interferon-induced transmembrane protein

    2. XM_017022888.3 → XP_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:264 → 330
      CD225; Interferon-induced transmembrane protein
      cl26464
      Location:25 → 216
      Atrophin-1; Atrophin-1 family

    3. XM_017022889.3 → XP_016878378.1  proline-rich transmembrane protein 2 isoform X4

      UniProtKB/TrEMBL
      A0A0G2JLL6
      Conserved Domains (1) summary
      pfam04505
      Location:258 → 330
      CD225; Interferon-induced transmembrane protein

    4. XM_017022887.3 → XP_016878376.1  proline-rich transmembrane protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JLL6
      Conserved Domains (1) summary
      pfam04505
      Location:258 → 330
      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_054379437.1 → XP_054235412.1  proline-rich transmembrane protein 2 isoform X1

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

      UniProtKB/Swiss-Prot
      A8K8M8, Q7Z6L0, Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
      UniProtKB/TrEMBL
      A0A0G2JLL6

    3. XM_054379440.1 → XP_054235415.1  proline-rich transmembrane protein 2 isoform X4

      UniProtKB/TrEMBL
      A0A0G2JLL6

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

      UniProtKB/TrEMBL
      A0A0G2JLL6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6L0.1 GenPept UniProtKB/Swiss-Prot:Q7Z6L0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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