U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na(+) channels. Franchi F, et al. J Biol Chem, 2023 May. PMID 36958475, Free PMC Article
  2. PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES). Cossu A, et al. Neurol Sci, 2023 Jun. PMID 36913149
  3. PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers. Lee J, et al. Epilepsia Open, 2023 Jun. PMID 36775847, Free PMC Article
  4. PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia. Xu K, et al. Curr Med Sci, 2022 Apr. PMID 35438471
  5. Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions. Chen Y, et al. Front Med, 2021 Dec. PMID 34825340

See all (142) 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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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_001256442.2 → 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_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_011545715.4 → 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

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

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

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.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous