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

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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).
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.
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.
PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia.
Title: PRRT2 Mutation and Serum Cytokines in Paroxysmal Kinesigenic Dyskinesia.
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-Associated Paroxysmal Movement Disorders	Compare labs
Infantile convulsions and choreoathetosis MedGen: C1865926 OMIM: 602066 GeneReviews: PRRT2-Associated Paroxysmal Movement Disorders	Compare labs
Seizures, benign familial infantile, 2 MedGen: C1853995 OMIM: 605751 GeneReviews: PRRT2-Associated Paroxysmal Movement Disorders	Compare labs

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S429E (e-PCR)
- UniSTS:3899

D16S2588E (e-PCR)
- UniSTS:86202

D16S429E (e-PCR)
- UniSTS:60106

RH17219 (e-PCR)
- UniSTS:31458

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

NG_032039.2 RefSeqGene

Range

5002..8690

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

29812193..29815881

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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

NC_060940.1 Alternate T2T-CHM13v2.0

Range

30094359..30098044

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379437.1 → XP_054235412.1 proline-rich transmembrane protein 2 isoform X1
XM_054379439.1 → XP_054235414.1 proline-rich transmembrane protein 2 isoform X3

UniProtKB/Swiss-Prot

A8K8M8, Q7Z6L0, Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
XM_054379440.1 → XP_054235415.1 proline-rich transmembrane protein 2 isoform X4
XM_054379438.1 → XP_054235413.1 proline-rich transmembrane protein 2 isoform X2