PRRT2 (proline rich transmembrane protein 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112476
Gene name Gene Name - the full gene name approved by the HGNC.
Proline rich transmembrane protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRRT2
Synonyms (NCBI Gene) Gene synonyms aliases
BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(209)
miRTarBase ID miRNA Experiments Reference
MIRT490083 hsa-miR-8080 PAR-CLIP 20371350
MIRT490081 hsa-miR-483-5p PAR-CLIP 20371350
MIRT569947 hsa-miR-6873-5p PAR-CLIP 20371350
MIRT569946 hsa-miR-9500 PAR-CLIP 20371350
MIRT569945 hsa-miR-4533 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane IEA
GO:0008021 Component Synaptic vesicle IEA
GO:0008021 Component Synaptic vesicle ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614386 30500 ENSG00000167371
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7Z6L0
Protein name Proline-rich transmembrane protein 2 (Dispanin subfamily B member 3) (DSPB3)
Protein function 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,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04505 CD225 264 → 331 Interferon-induced transmembrane protein Family
Sequence 
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVD
SGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATA
DQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPELPTQEDPTPEILSESVGEKQE
NGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQ
GDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK
Sequence length 340
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Convulsions And Choreoathetosis infantile convulsions and choreoathetosis rs387907127, rs387907125, rs1567380076, rs387907126, rs587778771, rs397514578, rs77838305, rs730882068, rs730882067, rs1596893952 N/A
episodic kinesigenic dyskinesia Episodic kinesigenic dyskinesia rs1555502908, rs1596893952, rs730882067, rs1567380135, rs1260966131, rs886042013, rs1567379819, rs1900074141, rs387907125, rs1900111672, rs886041960, rs1596889984, rs587778771, rs886041579, rs1596890692
View all (12 more)		 N/A
Episodic Kinesigenic Dyskinesia episodic kinesigenic dyskinesia 1 rs730882067, rs387907127, rs587778771, rs886042013, rs730882065, rs387907126, rs730882066, rs796052941, rs397514579, rs1555502708 N/A
seizure Seizure rs1900111672 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epilepsy benign familial infantile epilepsy N/A N/A GenCC
GLUT1 Deficiency Syndrome childhood onset GLUT1 deficiency syndrome 2 N/A N/A GenCC
Hemiplegic Migraine familial or sporadic hemiplegic migraine N/A N/A GenCC
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (210)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 23190448
Adenocarcinoma Associate 19014523, 26840258
Adenocarcinoma of Lung Associate 16055435
Adenoma Stimulate 8434650
Adrenoleukodystrophy Associate 9639664
Alzheimer Disease Inhibit 10101252
Alzheimer Disease Stimulate 17188679
Alzheimer Disease Associate 18336728, 19233276, 22916103, 28831118, 8063812, 9144240
Amyotrophic Lateral Sclerosis Associate 37629005
Angioedemas Hereditary Inhibit 11050091