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Protein

Proline-rich transmembrane protein 2

Gene

PRRT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca2+-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation.By similarity

Caution

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

SignaLinkiQ7Z6L0

Protein family/group databases

TCDBi8.A.58.2.1 the dispanin (dispanin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Proline-rich transmembrane protein 2
Alternative name(s):
Dispanin subfamily B member 3
Short name:
DSPB3
Gene namesi
Name:PRRT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000167371.16
HGNCiHGNC:30500 PRRT2
MIMi614386 gene
neXtProtiNX_Q7Z6L0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 268CytoplasmicSequence analysisBy similarityAdd BLAST268
Intramembranei269 – 289HelicalSequence analysisBy similarityAdd BLAST21
Topological domaini290 – 317CytoplasmicSequence analysisBy similarityAdd BLAST28
Transmembranei318 – 338HelicalSequence analysisBy similarityAdd BLAST21
Topological domaini339 – 340ExtracellularSequence analysisBy similarity2

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Episodic kinesigenic dyskinesia 1 (EKD1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytoplasm (PubMed:22101681).1 Publication
Disease descriptionAn autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.
See also OMIM:128200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067322266R → W in EKD1. 1 PublicationCorresponds to variant dbSNP:rs387907128Ensembl.1
Natural variantiVAR_067323281W → R in EKD1. 1 Publication1
Natural variantiVAR_067324287A → T in EKD1; may affect subcellular location, becoming predominantly cytoplasmic; impairs interaction with GRIA1 and SNAP25. 2 Publications1
Natural variantiVAR_067325305G → R in EKD1. 1 PublicationCorresponds to variant dbSNP:rs767799831Ensembl.1
Natural variantiVAR_067326308R → C in EKD1; no effect on location at the plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs932713001Ensembl.1
Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.
See also OMIM:602066
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080269240 – 340Missing in ICCA; may be produced at very low levels due to a premature stop codon in the mRNA, that could lead to nonsense-mediated mRNA decay. 1 PublicationCorresponds to variant dbSNP:rs387907126Add BLAST101
Natural variantiVAR_067327317S → N in ICCA. 1 PublicationCorresponds to variant dbSNP:rs387907125Ensembl.1
Seizures, benign familial infantile, 2 (BFIS2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant.
See also OMIM:605751
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068426323G → E in BFIS2. 1 Publication1

Keywords - Diseasei

Disease mutation, Dystonia, Epilepsy

Organism-specific databases

DisGeNETi112476
GeneReviewsiPRRT2
MalaCardsiPRRT2
MIMi128200 phenotype
602066 phenotype
605751 phenotype
OpenTargetsiENSG00000167371
Orphaneti306 Benign familial infantile epilepsy
569 Familial or sporadic hemiplegic migraine
31709 Infantile convulsions and choreoathetosis
98811 Paroxysmal exertion-induced dyskinesia
98809 Paroxysmal kinesigenic dyskinesia
98810 Paroxysmal non-kinesigenic dyskinesia
PharmGKBiPA142671132

Polymorphism and mutation databases

BioMutaiPRRT2
DMDMi74738828

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003077451 – 340Proline-rich transmembrane protein 2Add BLAST340

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei28PhosphoserineBy similarity1
Modified residuei74PhosphothreonineBy similarity1
Modified residuei238PhosphoserineBy similarity1
Modified residuei240Omega-N-methylarginineBy similarity1
Modified residuei248PhosphoserineBy similarity1
Modified residuei249PhosphoserineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

PaxDbiQ7Z6L0
PeptideAtlasiQ7Z6L0
PRIDEiQ7Z6L0

PTM databases

iPTMnetiQ7Z6L0
PhosphoSitePlusiQ7Z6L0

Expressioni

Gene expression databases

BgeeiENSG00000167371
CleanExiHS_PRRT2
ExpressionAtlasiQ7Z6L0 baseline and differential
GenevisibleiQ7Z6L0 HS

Organism-specific databases

HPAiHPA014447
HPA019203

Interactioni

Subunit structurei

Component of the outer core of AMPAR complex (PubMed:25915028). AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity). Interacts with intersectin 1/ITSN1 (By similarity). Interacts with SNARE complex components, including SNAP25, STX1A, SYT1 and SYT2; this interaction may inhibit SNARE complex formation (PubMed:25915028, PubMed:22832103).By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi1251889 interactors.
IntActiQ7Z6L0 2 interactors.
STRINGi9606.ENSP00000351608

Structurei

3D structure databases

ProteinModelPortaliQ7Z6L0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi131 – 216Pro-richAdd BLAST86

Sequence similaritiesi

Belongs to the CD225/Dispanin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J12U Eukaryota
ENOG410YRJ7 LUCA
GeneTreeiENSGT00530000063980
HOGENOMiHOG000115721
HOVERGENiHBG097184
InParanoidiQ7Z6L0
OMAiTQKPRDY
OrthoDBiEOG091G0JH3
PhylomeDBiQ7Z6L0
TreeFamiTF331357

Family and domain databases

InterProiView protein in InterPro
IPR007593 CD225/Dispanin_fam
PfamiView protein in Pfam
PF04505 CD225, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z6L0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAASSSEISE MKGVEESPKV PGEGPGHSEA ETGPPQVLAG VPDQPEAPQP
60 70 80 90 100
GPNTTAAPVD SGPKAGLAPE TTETPAGASE TAQATDLSLS PGGESKANCS
110 120 130 140 150
PEDPCQETVS KPEVSKEATA DQGSRLESAA PPEPAPEPAP QPDPRPDSQP
160 170 180 190 200
TPKPALQPEL PTQEDPTPEI LSESVGEKQE NGAVVPLQAG DGEEGPAPEP
210 220 230 240 250
HSPPSKKSPP ANGAPPRVLQ QLVEEDRMRR AHSGHPGSPR GSLSRHPSSQ
260 270 280 290 300
LAGPGVEGGE GTQKPRDYII LAILSCFCPM WPVNIVAFAY AVMSRNSLQQ
310 320 330 340
GDVDGAQRLG RVAKLLSIVA LVGGVLIIIA SCVINLGVYK
Length:340
Mass (Da):34,945
Last modified:October 1, 2003 - v1
Checksum:iF4BBA6559F081E34
GO
Isoform 2 (identifier: Q7Z6L0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-337: G → GGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPT

Show »
Length:394
Mass (Da):40,228
Checksum:iA4E5CC372F517A63
GO
Isoform 3 (identifier: Q7Z6L0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     294-340: SRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK → VSPMGP

Note: No experimental confirmation available.
Show »
Length:299
Mass (Da):30,653
Checksum:i9822B327E98D55C4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti151T → S in AAH11405 (PubMed:15489334).Curated1
Sequence conflicti214A → AP in CAD38881 (PubMed:17974005).Curated1
Sequence conflicti275S → P in CAD38881 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067010138P → A1 PublicationCorresponds to variant dbSNP:rs79182085Ensembl.1
Natural variantiVAR_067011147D → H1 PublicationCorresponds to variant dbSNP:rs79568162Ensembl.1
Natural variantiVAR_067012214A → P1 PublicationCorresponds to variant dbSNP:rs745594874Ensembl.1
Natural variantiVAR_067320215P → R1 PublicationCorresponds to variant dbSNP:rs200926711Ensembl.1
Natural variantiVAR_067321216P → L1 PublicationCorresponds to variant dbSNP:rs76335820Ensembl.1
Natural variantiVAR_067013237G → R1 PublicationCorresponds to variant dbSNP:rs199556853Ensembl.1
Natural variantiVAR_080269240 – 340Missing in ICCA; may be produced at very low levels due to a premature stop codon in the mRNA, that could lead to nonsense-mediated mRNA decay. 1 PublicationCorresponds to variant dbSNP:rs387907126Add BLAST101
Natural variantiVAR_067014245R → H1 PublicationCorresponds to variant dbSNP:rs754897123Ensembl.1
Natural variantiVAR_067322266R → W in EKD1. 1 PublicationCorresponds to variant dbSNP:rs387907128Ensembl.1
Natural variantiVAR_067323281W → R in EKD1. 1 Publication1
Natural variantiVAR_067324287A → T in EKD1; may affect subcellular location, becoming predominantly cytoplasmic; impairs interaction with GRIA1 and SNAP25. 2 Publications1
Natural variantiVAR_067325305G → R in EKD1. 1 PublicationCorresponds to variant dbSNP:rs767799831Ensembl.1
Natural variantiVAR_067326308R → C in EKD1; no effect on location at the plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs932713001Ensembl.1
Natural variantiVAR_067327317S → N in ICCA. 1 PublicationCorresponds to variant dbSNP:rs387907125Ensembl.1
Natural variantiVAR_068426323G → E in BFIS2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028814294 – 340SRNSL…LGVYK → VSPMGP in isoform 3. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_028815337G → GGEWGLGTGRGGMEGLARAA LLTPAPALSCLSSLPLLCLS LSPPPPVCPSLSSPT in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092265 mRNA Translation: BAC03843.1
AK074572 mRNA Translation: BAC11067.1
AK292393 mRNA Translation: BAF85082.1
AL834185 mRNA Translation: CAD38881.1
CH471238 Genomic DNA Translation: EAW79991.1
BC011405 mRNA Translation: AAH11405.1
BC053594 mRNA Translation: AAH53594.1
CCDSiCCDS10654.1 [Q7Z6L0-1]
CCDS58445.1 [Q7Z6L0-2]
CCDS58446.1 [Q7Z6L0-3]
RefSeqiNP_001243371.1, NM_001256442.1 [Q7Z6L0-2]
NP_001243372.1, NM_001256443.1 [Q7Z6L0-3]
NP_660282.2, NM_145239.2 [Q7Z6L0-1]
XP_011544017.1, XM_011545715.2 [Q7Z6L0-2]
XP_011544018.1, XM_011545716.2 [Q7Z6L0-2]
XP_016878377.1, XM_017022888.1 [Q7Z6L0-1]
UniGeneiHs.655071

Genome annotation databases

EnsembliENST00000300797; ENSP00000300797; ENSG00000167371 [Q7Z6L0-3]
ENST00000358758; ENSP00000351608; ENSG00000167371 [Q7Z6L0-1]
ENST00000567659; ENSP00000456226; ENSG00000167371 [Q7Z6L0-2]
ENST00000572820; ENSP00000458291; ENSG00000167371 [Q7Z6L0-1]
ENST00000636131; ENSP00000490390; ENSG00000167371 [Q7Z6L0-3]
ENST00000637064; ENSP00000490826; ENSG00000167371 [Q7Z6L0-1]
GeneIDi112476
KEGGihsa:112476
UCSCiuc002dud.4 human [Q7Z6L0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPRRT2_HUMAN
AccessioniPrimary (citable) accession number: Q7Z6L0
Secondary accession number(s): A8K8M8
, Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 1, 2003
Last modified: April 25, 2018
This is version 117 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome