PRRT2 information

PRRT2
Identifiers
Aliases	PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline rich transmembrane protein 2
External IDs	OMIM: 614386; MGI: 1916267; HomoloGene: 114328; GeneCards: PRRT2; OMA:PRRT2 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	29,815,892 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	127,021,211 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; cerebellar vermis; ; right frontal lobe; ; Brodmann area 9; ; primary visual cortex; ; middle temporal gyrus; ; prefrontal cortex; ; superior frontal gyrus; ; nucleus accumbens; ; cingulate gyrus;
	Top expressed in
	cerebellar cortex; ; primary visual cortex; ; superior frontal gyrus; ; dentate gyrus of hippocampal formation granule cell; ; hippocampus proper; ; striatum of neuraxis; ; hypothalamus; ; morula; ; neural layer of retina; ; olfactory bulb;
	More reference expression data
	n/a
Gene ontology
Molecular function	syntaxin-1 binding; SH3 domain binding;
Cellular component	integral component of membrane; cell junction; synapse; plasma membrane; membrane; synaptic vesicle; vesicle; axon terminus; presynapse; postsynaptic density; axon; synaptic vesicle membrane; cytoplasmic vesicle; presynaptic membrane; cell projection; dendritic spine; postsynaptic membrane; neuron projection; glutamatergic synapse; integral component of presynaptic membrane;
Biological process	neuromuscular process controlling posture; response to biotic stimulus; synaptic vesicle fusion to presynaptic active zone membrane; negative regulation of SNARE complex assembly; negative regulation of short-term synaptic potentiation; calcium-dependent activation of synaptic vesicle fusion;
	Sources:Amigo / QuickGO
Orthologs
	112476
	69017
	ENSG00000167371
	ENSMUSG00000045114
	Q7Z6L0
	E9PUL5
	NM_001256442; NM_001256443; NM_145239
	NM_001102563
	NP_001243371; NP_001243372; NP_660282
	NP_001096033
	Wikidata
View/Edit Human	View/Edit Mouse

Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000167371 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000045114 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000167371 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000045114 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26.

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