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Q7Z6L0

- PRRT2_HUMAN

UniProt

Q7Z6L0 - PRRT2_HUMAN

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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

Functioni

GO - Biological processi

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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 268268ExtracellularSequence AnalysisAdd
BLAST
Transmembranei269 – 28921HelicalSequence AnalysisAdd
BLAST
Topological domaini290 – 31728CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei318 – 33821HelicalSequence AnalysisAdd
BLAST
Topological domaini339 – 3402ExtracellularSequence Analysis

GO - Cellular componenti

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

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 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.

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

BgeeiQ7Z6L0.
CleanExiHS_PRRT2.
ExpressionAtlasiQ7Z6L0. baseline.
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. 10 interactions.
IntActiQ7Z6L0. 1 interaction.
MINTiMINT-1420001.
STRINGi9606.ENSP00000351608.

Structurei

3D structure databases

ProteinModelPortaliQ7Z6L0.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00530000063980.
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

        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)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:
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_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:
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 .
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. 10 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 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.
PharmGKBi PA142671132.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG292287.
GeneTreei ENSGT00530000063980.
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

Bgeei Q7Z6L0.
CleanExi HS_PRRT2.
ExpressionAtlasi Q7Z6L0. baseline.
Genevestigatori Q7Z6L0.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 90 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