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Q7Z6L0 (PRRT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Proline-rich transmembrane protein 2
Alternative name(s):
Dispanin subfamily B member 3
Short name=DSPB3
Gene names
Name:PRRT2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length340 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

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.

Subcellular location

Cell membrane; Multi-pass membrane protein. Cell junctionsynapse By similarity Ref.6.

Involvement in disease

Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An 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.
Note: 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 cytosplasm (Ref.6). Ref.6 Ref.9 Ref.11 Ref.13

Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Seizures, benign familial infantile 2 (BFIS2) [MIM:605751]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8 Ref.12

Sequence similarities

Belongs to the CD225/Dispanin family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z6L0-1)

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.
Isoform 2 (identifier: Q7Z6L0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     337-337: G → GGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPT
Isoform 3 (identifier: Q7Z6L0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     294-340: SRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK → VSPMGP
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 340340Proline-rich transmembrane protein 2
PRO_0000307745

Regions

Topological domain1 – 268268Extracellular Potential
Transmembrane269 – 28921Helical; Potential
Topological domain290 – 31728Cytoplasmic Potential
Transmembrane318 – 33821Helical; Potential
Topological domain339 – 3402Extracellular Potential
Compositional bias131 – 21686Pro-rich

Amino acid modifications

Glycosylation531N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence294 – 34047SRNSL…LGVYK → VSPMGP in isoform 3.
VSP_028814
Alternative sequence3371G → GGEWGLGTGRGGMEGLARAA LLTPAPALSCLSSLPLLCLS LSPPPPVCPSLSSPT in isoform 2.
VSP_028815
Natural variant1381P → A. Ref.6
Corresponds to variant rs79182085 [ dbSNP | Ensembl ].
VAR_067010
Natural variant1471D → H. Ref.6
Corresponds to variant rs79568162 [ dbSNP | Ensembl ].
VAR_067011
Natural variant2141A → P. Ref.6
VAR_067012
Natural variant2151P → R. Ref.7
Corresponds to variant rs200926711 [ dbSNP | Ensembl ].
VAR_067320
Natural variant2161P → L. Ref.7
Corresponds to variant rs76335820 [ dbSNP | Ensembl ].
VAR_067321
Natural variant2371G → R. Ref.6
Corresponds to variant rs199556853 [ dbSNP | Ensembl ].
VAR_067013
Natural variant2451R → H. Ref.6
VAR_067014
Natural variant2661R → W in EKD1. Ref.11
VAR_067322
Natural variant2811W → R in EKD1. Ref.13
VAR_067323
Natural variant2871A → T in EKD1. Ref.13
VAR_067324
Natural variant3051G → R in EKD1. Ref.9
VAR_067325
Natural variant3081R → C in EKD1. Ref.13
VAR_067326
Natural variant3171S → N in ICCA. Ref.7
VAR_067327
Natural variant3231G → E in BFIS2. Ref.12
VAR_068426

Experimental info

Sequence conflict1511T → S in AAH11405. Ref.5
Sequence conflict2141A → AP in CAD38881. Ref.3
Sequence conflict2751S → P in CAD38881. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: F4BBA6559F081E34

FASTA34034,945
        10         20         30         40         50         60 
MAASSSEISE MKGVEESPKV PGEGPGHSEA ETGPPQVLAG VPDQPEAPQP GPNTTAAPVD 

        70         80         90        100        110        120 
SGPKAGLAPE TTETPAGASE TAQATDLSLS PGGESKANCS PEDPCQETVS KPEVSKEATA 

       130        140        150        160        170        180 
DQGSRLESAA PPEPAPEPAP QPDPRPDSQP TPKPALQPEL PTQEDPTPEI LSESVGEKQE 

       190        200        210        220        230        240 
NGAVVPLQAG DGEEGPAPEP HSPPSKKSPP ANGAPPRVLQ QLVEEDRMRR AHSGHPGSPR 

       250        260        270        280        290        300 
GSLSRHPSSQ LAGPGVEGGE GTQKPRDYII LAILSCFCPM WPVNIVAFAY AVMSRNSLQQ 

       310        320        330        340 
GDVDGAQRLG RVAKLLSIVA LVGGVLIIIA SCVINLGVYK 

« Hide

Isoform 2 [UniParc].

Checksum: A4E5CC372F517A63
Show »

FASTA39440,228
Isoform 3 [UniParc].

Checksum: 9822B327E98D55C4
Show »

FASTA29930,653

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
Tissue: Teratocarcinoma and Testis.
[2]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Embryo.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain and Eye.
[6]"Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia."
Chen W.J., Lin Y., Xiong Z.Q., Wei W., Ni W., Tan G.H., Guo S.L., He J., Chen Y.F., Zhang Q.J., Li H.F., Lin Y., Murong S.X., Xu J., Wang N., Wu Z.Y.
Nat. Genet. 43:1252-1255(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN EKD1, SUBCELLULAR LOCATION, VARIANTS ALA-138; HIS-147; PRO-214; ARG-237 AND HIS-245.
[7]"PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome."
Heron S.E., Grinton B.E., Kivity S., Afawi Z., Zuberi S.M., Hughes J.N., Pridmore C., Hodgson B.L., Iona X., Sadleir L.G., Pelekanos J., Herlenius E., Goldberg-Stern H., Bassan H., Haan E., Korczyn A.D., Gardner A.E., Corbett M.A. expand/collapse author list , Gecz J., Thomas P.Q., Mulley J.C., Berkovic S.F., Scheffer I.E., Dibbens L.M.
Am. J. Hum. Genet. 90:152-160(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN BFIS2, VARIANT ICCA ASN-317, VARIANTS ARG-215 AND LEU-216.
[8]"Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions."
Ono S., Yoshiura K.I., Kinoshita A., Kikuchi T., Nakane Y., Kato N., Sadamatsu M., Konishi T., Nagamitsu S., Matsuura M., Yasuda A., Komine M., Kanai K., Inoue T., Osamura T., Saito K., Hirose S., Koide H. expand/collapse author list , Tomita H., Ozawa H., Niikawa N., Kurotaki N.
J. Hum. Genet. 57:338-341(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN BFIS2.
[9]"Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression."
Liu Q., Qi Z., Wan X.H., Li J.Y., Shi L., Lu Q., Zhou X.Q., Qiao L., Wu L.W., Liu X.Q., Yang W., Liu Y., Cui L.Y., Zhang X.
J. Med. Genet. 49:79-82(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EKD1 ARG-305.
[10]"The dispanins: a novel gene family of ancient origin that contains 14 human members."
Sallman Almen M., Bringeland N., Fredriksson R., Schioth H.B.
PLoS ONE 7:E31961-E31961(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: GENE FAMILY.
[11]"Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias."
Wang J.L., Cao L., Li X.H., Hu Z.M., Li J.D., Zhang J.G., Liang Y., San A., Li N., Chen S.Q., Guo J.F., Jiang H., Shen L., Zheng L., Mao X., Yan W.Q., Zhou Y., Shi Y.T. expand/collapse author list , Ai S.X., Dai M.Z., Zhang P., Xia K., Chen S.D., Tang B.S.
Brain 134:3493-3501(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EKD1 TRP-266.
[12]"PRRT2 Mutations are the major cause of benign familial infantile seizures."
Schubert J., Paravidino R., Becker F., Berger A., Bebek N., Bianchi A., Brockmann K., Capovilla G., Bernardina B.D., Fukuyama Y., Hoffmann G.F., Jurkat-Rott K., Antonnen A.K., Kurlemann G., Lehesjoki A.E., Lehmann-Horn F., Mastrangelo M., Mause U. expand/collapse author list , Muller S., Neubauer B., Pust B., Rating D., Robbiano A., Ruf S., Schroeder C., Seidel A., Specchio N., Stephani U., Striano P., Teichler J., Turkdogan D., Vigevano F., Viri M., Bauer P., Zara F., Lerche H., Weber Y.G.
Hum. Mutat. 33:1439-1443(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BFIS2 GLU-323.
[13]"Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis."
Li J., Zhu X., Wang X., Sun W., Feng B., Du T., Sun B., Niu F., Wei H., Wu X., Dong L., Li L., Cai X., Wang Y., Liu Y.
J. Med. Genet. 49:76-78(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EKD1 ARG-281; THR-287 AND CYS-308.
+Additional computationally mapped references.

Web resources

Proline-rich transmembrane protein 2 (PRRT2)

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10654.1. [Q7Z6L0-1]
CCDS58445.1. [Q7Z6L0-2]
CCDS58446.1. [Q7Z6L0-3]
RefSeqNP_001243371.1. NM_001256442.1. [Q7Z6L0-2]
NP_001243372.1. NM_001256443.1. [Q7Z6L0-3]
NP_660282.2. NM_145239.2. [Q7Z6L0-1]
XP_006721069.1. XM_006721006.1. [Q7Z6L0-1]
UniGeneHs.655071.

3D structure databases

ProteinModelPortalQ7Z6L0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125188. 2 interactions.
IntActQ7Z6L0. 1 interaction.
MINTMINT-1420001.
STRING9606.ENSP00000351608.

PTM databases

PhosphoSiteQ7Z6L0.

Polymorphism databases

DMDM74738828.

Proteomic databases

PaxDbQ7Z6L0.
PRIDEQ7Z6L0.

Protocols and materials databases

DNASU112476.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300797; ENSP00000300797; ENSG00000167371. [Q7Z6L0-3]
ENST00000358758; ENSP00000351608; ENSG00000167371. [Q7Z6L0-1]
ENST00000567659; ENSP00000456226; ENSG00000167371. [Q7Z6L0-2]
GeneID112476.
KEGGhsa:112476.
UCSCuc002dud.3. human. [Q7Z6L0-2]
uc002due.4. human. [Q7Z6L0-1]
uc002duf.2. human. [Q7Z6L0-3]

Organism-specific databases

CTD112476.
GeneCardsGC16P029823.
GeneReviewsPRRT2.
H-InvDBHIX0012947.
HGNCHGNC:30500. PRRT2.
HPAHPA014447.
MIM128200. phenotype.
602066. phenotype.
605751. phenotype.
614386. gene.
neXtProtNX_Q7Z6L0.
Orphanet306. Benign familial infantile seizures.
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.
PharmGKBPA142671132.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG292287.
HOGENOMHOG000115721.
HOVERGENHBG097184.
InParanoidQ7Z6L0.
OMATQKPRDY.
OrthoDBEOG7NSB45.
PhylomeDBQ7Z6L0.
TreeFamTF331357.

Enzyme and pathway databases

SignaLinkQ7Z6L0.

Gene expression databases

ArrayExpressQ7Z6L0.
BgeeQ7Z6L0.
CleanExHS_PRRT2.
GenevestigatorQ7Z6L0.

Family and domain databases

InterProIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamPF04505. Dispanin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPRRT2.
GenomeRNAi112476.
NextBio78590.
PROQ7Z6L0.
SOURCESearch...

Entry information

Entry namePRRT2_HUMAN
AccessionPrimary (citable) accession number: Q7Z6L0
Secondary accession number(s): A8K8M8 expand/collapse secondary AC list , Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 1, 2003
Last modified: July 9, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM