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Protein

Proline-rich transmembrane protein 2

Gene

PRRT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

  • neuromuscular process controlling posture Source: MGI
  • response to biotic stimulus Source: InterPro
Complete GO annotation...

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

HGNCiHGNC:30500. PRRT2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 268ExtracellularSequence analysisAdd BLAST268
Transmembranei269 – 289HelicalSequence analysisAdd BLAST21
Topological domaini290 – 317CytoplasmicSequence analysisAdd BLAST28
Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Topological domaini339 – 340ExtracellularSequence analysis2

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Episodic kinesigenic dyskinesia 1 (EKD1)4 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 rs387907128dbSNPEnsembl.1
Natural variantiVAR_067323281W → R in EKD1. 1 Publication1
Natural variantiVAR_067324287A → T in EKD1. 1 Publication1
Natural variantiVAR_067325305G → R in EKD1. 1 PublicationCorresponds to variant rs767799831dbSNPEnsembl.1
Natural variantiVAR_067326308R → C in EKD1. 1 Publication1
Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA)1 Publication
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_067327317S → N in ICCA. 1 PublicationCorresponds to variant rs387907125dbSNPEnsembl.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.
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
Glycosylationi53N-linked (GlcNAc...)Sequence analysis1
Modified residuei74PhosphothreonineBy similarity1
Modified residuei238PhosphoserineBy similarity1
Modified residuei240Omega-N-methylarginineBy similarity1
Modified residuei248PhosphoserineBy similarity1
Modified residuei249PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, 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.

Interactioni

Subunit structurei

Component of the outer core of AMPAR complex. 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).By similarity

Protein-protein interaction databases

BioGridi125188. 9 interactors.
IntActiQ7Z6L0. 1 interactor.
MINTiMINT-1420001.
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

InterProiIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamiPF04505. CD225. 1 hit.
[Graphical view]

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 → A.1 PublicationCorresponds to variant rs79182085dbSNPEnsembl.1
Natural variantiVAR_067011147D → H.1 PublicationCorresponds to variant rs79568162dbSNPEnsembl.1
Natural variantiVAR_067012214A → P.1 PublicationCorresponds to variant rs745594874dbSNPEnsembl.1
Natural variantiVAR_067320215P → R.1 PublicationCorresponds to variant rs200926711dbSNPEnsembl.1
Natural variantiVAR_067321216P → L.1 PublicationCorresponds to variant rs76335820dbSNPEnsembl.1
Natural variantiVAR_067013237G → R.1 PublicationCorresponds to variant rs199556853dbSNPEnsembl.1
Natural variantiVAR_067014245R → H.1 PublicationCorresponds to variant rs754897123dbSNPEnsembl.1
Natural variantiVAR_067322266R → W in EKD1. 1 PublicationCorresponds to variant rs387907128dbSNPEnsembl.1
Natural variantiVAR_067323281W → R in EKD1. 1 Publication1
Natural variantiVAR_067324287A → T in EKD1. 1 Publication1
Natural variantiVAR_067325305G → R in EKD1. 1 PublicationCorresponds to variant rs767799831dbSNPEnsembl.1
Natural variantiVAR_067326308R → C in EKD1. 1 Publication1
Natural variantiVAR_067327317S → N in ICCA. 1 PublicationCorresponds to variant rs387907125dbSNPEnsembl.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

Cross-referencesi

Web resourcesi

Proline-rich transmembrane protein 2 (PRRT2)

Leiden Open Variation Database (LOVD)

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.

3D structure databases

ProteinModelPortaliQ7Z6L0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125188. 9 interactors.
IntActiQ7Z6L0. 1 interactor.
MINTiMINT-1420001.
STRINGi9606.ENSP00000351608.

Protein family/group databases

TCDBi8.A.58.2.1. the dispanin (dispanin) family.

PTM databases

iPTMnetiQ7Z6L0.
PhosphoSitePlusiQ7Z6L0.

Polymorphism and mutation databases

BioMutaiPRRT2.
DMDMi74738828.

Proteomic databases

PaxDbiQ7Z6L0.
PeptideAtlasiQ7Z6L0.
PRIDEiQ7Z6L0.

Protocols and materials databases

DNASUi112476.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi112476.
DisGeNETi112476.
GeneCardsiPRRT2.
GeneReviewsiPRRT2.
H-InvDBHIX0012947.
HGNCiHGNC:30500. PRRT2.
HPAiHPA014447.
MalaCardsiPRRT2.
MIMi128200. phenotype.
602066. phenotype.
605751. phenotype.
614386. gene.
neXtProtiNX_Q7Z6L0.
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.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

SignaLinkiQ7Z6L0.

Miscellaneous databases

GeneWikiiPRRT2.
GenomeRNAii112476.
PROiQ7Z6L0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167371.
CleanExiHS_PRRT2.
ExpressionAtlasiQ7Z6L0. baseline and differential.
GenevisibleiQ7Z6L0. HS.

Family and domain databases

InterProiIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamiPF04505. CD225. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPRRT2_HUMAN
AccessioniPrimary (citable) accession number: Q7Z6L0
Secondary accession number(s): A8K8M8
, Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 1, 2003
Last modified: November 30, 2016
This is version 107 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.