{
"@context": "/terms/",
"@id": "/genes/ENSG00000167371/",
"@type": [
"Gene",
"Item"
],
"audit": {},
"creation_timestamp": "2023-04-20T00:51:24.165253+00:00",
"dbxrefs": [
"ENTREZ:112476",
"HGNC:30500"
],
"geneid": "ENSG00000167371",
"geneid_with_version": "ENSG00000167371.21",
"locations": [
{
"assembly": "GRCh38",
"chromosome": "chr16",
"end": 29815892,
"start": 29811382
}
],
"name": "proline rich transmembrane protein 2",
"release_timestamp": "2024-08-29T10:55:25.672709+00:00",
"schema_version": "9",
"status": "released",
"study_sets": [
"16p11.2 Deletion - Shendure"
],
"submitted_by": {
"@id": "/users/98fb23d3-0d79-4c3d-981d-01539e6589f1/",
"title": "Idan Gabdank"
},
"summary": "PRRT2 - ENSG00000167371 (Homo sapiens)",
"symbol": "PRRT2",
"synonyms": [
"proline-rich transmembrane protein 2",
"Benign familial infantile convulsions-2",
"BFIC2",
"DYT10",
"FICCA",
"dispanin subfamily B member 3",
"BFIS2",
"DSPB3",
"EKD1",
"ICCA",
"PKC",
"interferon induced transmembrane protein domain containing 1",
"IFITMD1",
"infantile convulsions and paroxysmal choreoathetosis",
"dystonia 10"
],
"taxa": "Homo sapiens",
"title": "PRRT2 (Homo sapiens)",
"transcriptome_annotation": "GENCODE 43",
"uuid": "2055799c-9a01-40c2-b08f-6804df046d43",
"version_number": "21"
}