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Q7Z6L0

- PRRT2_HUMAN

UniProt

Q7Z6L0 - PRRT2_HUMAN

Protein

Proline-rich transmembrane protein 2

Gene

PRRT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. neuromuscular process controlling posture Source: MGI
    2. response to biotic stimulus Source: InterPro

    Enzyme and pathway databases

    SignaLinkiQ7Z6L0.

    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
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:30500. PRRT2.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cell junctionsynapse By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: UniProtKB-SubCell
    4. synapse Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    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.4 Publications
    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 (PubMed:22101681).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti266 – 2661R → W in EKD1. 1 Publication
    VAR_067322
    Natural varianti281 – 2811W → R in EKD1. 1 Publication
    VAR_067323
    Natural varianti287 – 2871A → T in EKD1. 1 Publication
    VAR_067324
    Natural varianti305 – 3051G → R in EKD1. 1 Publication
    VAR_067325
    Natural varianti308 – 3081R → C in EKD1. 1 Publication
    VAR_067326
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti317 – 3171S → N in ICCA. 1 Publication
    VAR_067327
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti323 – 3231G → E in BFIS2. 1 Publication
    VAR_068426

    Keywords - Diseasei

    Disease mutation, Dystonia, Epilepsy

    Organism-specific databases

    MIMi128200. phenotype.
    602066. phenotype.
    605751. phenotype.
    Orphaneti306. 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.
    PharmGKBiPA142671132.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 340340Proline-rich transmembrane protein 2PRO_0000307745Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi53 – 531N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ7Z6L0.
    PRIDEiQ7Z6L0.

    PTM databases

    PhosphoSiteiQ7Z6L0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7Z6L0.
    BgeeiQ7Z6L0.
    CleanExiHS_PRRT2.
    GenevestigatoriQ7Z6L0.

    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. 2 interactions.
    IntActiQ7Z6L0. 1 interaction.
    MINTiMINT-1420001.
    STRINGi9606.ENSP00000351608.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z6L0.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 268268ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini290 – 31728CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini339 – 3402ExtracellularSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei269 – 28921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei318 – 33821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi131 – 21686Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CD225/Dispanin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG292287.
    HOGENOMiHOG000115721.
    HOVERGENiHBG097184.
    InParanoidiQ7Z6L0.
    OMAiTQKPRDY.
    OrthoDBiEOG7NSB45.
    PhylomeDBiQ7Z6L0.
    TreeFamiTF331357.

    Family and domain databases

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

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MAASSSEISE MKGVEESPKV PGEGPGHSEA ETGPPQVLAG VPDQPEAPQP    50
    GPNTTAAPVD SGPKAGLAPE TTETPAGASE TAQATDLSLS PGGESKANCS 100
    PEDPCQETVS KPEVSKEATA DQGSRLESAA PPEPAPEPAP QPDPRPDSQP 150
    TPKPALQPEL PTQEDPTPEI LSESVGEKQE NGAVVPLQAG DGEEGPAPEP 200
    HSPPSKKSPP ANGAPPRVLQ QLVEEDRMRR AHSGHPGSPR GSLSRHPSSQ 250
    LAGPGVEGGE GTQKPRDYII LAILSCFCPM WPVNIVAFAY AVMSRNSLQQ 300
    GDVDGAQRLG RVAKLLSIVA LVGGVLIIIA SCVINLGVYK 340
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti151 – 1511T → S in AAH11405. (PubMed:15489334)Curated
    Sequence conflicti214 – 2141A → AP in CAD38881. (PubMed:17974005)Curated
    Sequence conflicti275 – 2751S → P in CAD38881. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti138 – 1381P → A.1 Publication
    Corresponds to variant rs79182085 [ dbSNP | Ensembl ].
    VAR_067010
    Natural varianti147 – 1471D → H.1 Publication
    Corresponds to variant rs79568162 [ dbSNP | Ensembl ].
    VAR_067011
    Natural varianti214 – 2141A → P.1 Publication
    VAR_067012
    Natural varianti215 – 2151P → R.1 Publication
    Corresponds to variant rs200926711 [ dbSNP | Ensembl ].
    VAR_067320
    Natural varianti216 – 2161P → L.1 Publication
    Corresponds to variant rs76335820 [ dbSNP | Ensembl ].
    VAR_067321
    Natural varianti237 – 2371G → R.1 Publication
    Corresponds to variant rs199556853 [ dbSNP | Ensembl ].
    VAR_067013
    Natural varianti245 – 2451R → H.1 Publication
    VAR_067014
    Natural varianti266 – 2661R → W in EKD1. 1 Publication
    VAR_067322
    Natural varianti281 – 2811W → R in EKD1. 1 Publication
    VAR_067323
    Natural varianti287 – 2871A → T in EKD1. 1 Publication
    VAR_067324
    Natural varianti305 – 3051G → R in EKD1. 1 Publication
    VAR_067325
    Natural varianti308 – 3081R → C in EKD1. 1 Publication
    VAR_067326
    Natural varianti317 – 3171S → N in ICCA. 1 Publication
    VAR_067327
    Natural varianti323 – 3231G → E in BFIS2. 1 Publication
    VAR_068426

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei294 – 34047SRNSL…LGVYK → VSPMGP in isoform 3. 1 PublicationVSP_028814Add
    BLAST
    Alternative sequencei337 – 3371G → GGEWGLGTGRGGMEGLARAA LLTPAPALSCLSSLPLLCLS LSPPPPVCPSLSSPT in isoform 2. 2 PublicationsVSP_028815

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006721069.1. XM_006721006.1. [Q7Z6L0-1]
    UniGeneiHs.655071.

    Genome annotation databases

    EnsembliENST00000300797; ENSP00000300797; ENSG00000167371. [Q7Z6L0-3]
    ENST00000358758; ENSP00000351608; ENSG00000167371. [Q7Z6L0-1]
    ENST00000567659; ENSP00000456226; ENSG00000167371. [Q7Z6L0-2]
    GeneIDi112476.
    KEGGihsa:112476.
    UCSCiuc002dud.3. human. [Q7Z6L0-2]
    uc002due.4. human. [Q7Z6L0-1]
    uc002duf.2. human. [Q7Z6L0-3]

    Polymorphism databases

    DMDMi74738828.

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS10654.1. [Q7Z6L0-1 ]
    CCDS58445.1. [Q7Z6L0-2 ]
    CCDS58446.1. [Q7Z6L0-3 ]
    RefSeqi NP_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 ]
    UniGenei Hs.655071.

    3D structure databases

    ProteinModelPortali Q7Z6L0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125188. 2 interactions.
    IntActi Q7Z6L0. 1 interaction.
    MINTi MINT-1420001.
    STRINGi 9606.ENSP00000351608.

    PTM databases

    PhosphoSitei Q7Z6L0.

    Polymorphism databases

    DMDMi 74738828.

    Proteomic databases

    PaxDbi Q7Z6L0.
    PRIDEi Q7Z6L0.

    Protocols and materials databases

    DNASUi 112476.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300797 ; ENSP00000300797 ; ENSG00000167371 . [Q7Z6L0-3 ]
    ENST00000358758 ; ENSP00000351608 ; ENSG00000167371 . [Q7Z6L0-1 ]
    ENST00000567659 ; ENSP00000456226 ; ENSG00000167371 . [Q7Z6L0-2 ]
    GeneIDi 112476.
    KEGGi hsa:112476.
    UCSCi uc002dud.3. human. [Q7Z6L0-2 ]
    uc002due.4. human. [Q7Z6L0-1 ]
    uc002duf.2. human. [Q7Z6L0-3 ]

    Organism-specific databases

    CTDi 112476.
    GeneCardsi GC16P029823.
    GeneReviewsi PRRT2.
    H-InvDB HIX0012947.
    HGNCi HGNC:30500. PRRT2.
    HPAi HPA014447.
    MIMi 128200. phenotype.
    602066. phenotype.
    605751. phenotype.
    614386. gene.
    neXtProti NX_Q7Z6L0.
    Orphaneti 306. 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.
    PharmGKBi PA142671132.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG292287.
    HOGENOMi HOG000115721.
    HOVERGENi HBG097184.
    InParanoidi Q7Z6L0.
    OMAi TQKPRDY.
    OrthoDBi EOG7NSB45.
    PhylomeDBi Q7Z6L0.
    TreeFami TF331357.

    Enzyme and pathway databases

    SignaLinki Q7Z6L0.

    Miscellaneous databases

    GeneWikii PRRT2.
    GenomeRNAii 112476.
    NextBioi 78590.
    PROi Q7Z6L0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z6L0.
    Bgeei Q7Z6L0.
    CleanExi HS_PRRT2.
    Genevestigatori Q7Z6L0.

    Family and domain databases

    InterProi IPR007593. CD225/Dispanin_fam.
    [Graphical view ]
    Pfami PF04505. Dispanin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. 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. Cited for: INVOLVEMENT IN BFIS2, VARIANT ICCA ASN-317, VARIANTS ARG-215 AND LEU-216.
    8. 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. Cited for: VARIANT EKD1 TRP-266.
    12. 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.

    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: October 1, 2014
    This is version 89 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

    External Data

    Dasty 3