##gff-version 3 Q8NFJ6 UniProtKB Chain 1 384 . . . ID=PRO_0000070083;Note=Prokineticin receptor 2 Q8NFJ6 UniProtKB Topological domain 1 54 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Transmembrane 55 75 . . . Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Topological domain 76 89 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Transmembrane 90 110 . . . Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Topological domain 111 136 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Transmembrane 137 157 . . . Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Topological domain 158 171 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Transmembrane 172 192 . . . Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Topological domain 193 223 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Transmembrane 224 244 . . . Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Topological domain 245 273 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Transmembrane 274 294 . . . Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Topological domain 295 313 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Transmembrane 314 334 . . . Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Topological domain 335 384 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Glycosylation 7 7 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Glycosylation 27 27 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NFJ6 UniProtKB Disulfide bond 128 208 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00521 Q8NFJ6 UniProtKB Natural variant 85 85 . . . ID=VAR_030957;Note=In HH3%3B phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism%3B decreased signaling activity. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18559922,ECO:0000269|PubMed:18826963,ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs141090506,PMID:17054399,PMID:18559922,PMID:18826963,PMID:25077900 Q8NFJ6 UniProtKB Natural variant 85 85 . . . ID=VAR_030958;Note=In HH3%3B decreased signaling activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18826963,ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs74315418,PMID:17054399,PMID:18826963,PMID:25077900 Q8NFJ6 UniProtKB Natural variant 113 113 . . . ID=VAR_072173;Note=In HH3. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18559922,ECO:0000269|PubMed:28858133;Dbxref=dbSNP:rs202203360,PMID:18559922,PMID:28858133 Q8NFJ6 UniProtKB Natural variant 115 115 . . . ID=VAR_069964;Note=In HH3%3B phenotype consistent with Kallmann syndrome. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18559922,ECO:0000269|PubMed:23643382;Dbxref=dbSNP:rs138672528,PMID:18559922,PMID:23643382 Q8NFJ6 UniProtKB Natural variant 158 158 . . . ID=VAR_072978;Note=In HH3%3B phenotype consistent with Kallmann syndrome. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs368732206,PMID:25077900 Q8NFJ6 UniProtKB Natural variant 164 164 . . . ID=VAR_030959;Note=In HH3%3B phenotype consistent with Kallmann syndrome%3B decreased signaling activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18559922,ECO:0000269|PubMed:18826963;Dbxref=dbSNP:rs751875578,PMID:17054399,PMID:18559922,PMID:18826963 Q8NFJ6 UniProtKB Natural variant 173 173 . . . ID=VAR_030960;Note=In HH3%3B phenotype consistent with Kallmann syndrome%3B decreased signaling activity. L->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18559922,ECO:0000269|PubMed:18826963,ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs74315416,PMID:17054399,PMID:18559922,PMID:18826963,PMID:25077900 Q8NFJ6 UniProtKB Natural variant 178 178 . . . ID=VAR_030961;Note=In HH3%3B decreased signaling activity. W->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18559922,ECO:0000269|PubMed:18826963;Dbxref=dbSNP:rs201835496,PMID:17054399,PMID:18559922,PMID:18826963 Q8NFJ6 UniProtKB Natural variant 188 188 . . . ID=VAR_072174;Note=In HH3. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18559922;Dbxref=dbSNP:rs376239580,PMID:18559922 Q8NFJ6 UniProtKB Natural variant 202 202 . . . ID=VAR_069965;Note=In HH3%3B triallelic inheritance%3B the patient also carries mutations in GNRH1 and FGFR1. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23643382;Dbxref=dbSNP:rs200755554,PMID:23643382 Q8NFJ6 UniProtKB Natural variant 210 210 . . . ID=VAR_030962;Note=In HH3%3B phenotype consistent with Kallmann syndrome%3B decreased signaling activity%3B abolished ligand binding. Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18826963;Dbxref=dbSNP:rs74315417,PMID:17054399,PMID:18826963 Q8NFJ6 UniProtKB Natural variant 248 248 . . . ID=VAR_072175;Note=In HH3. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18559922;Dbxref=dbSNP:rs376142095,PMID:18559922 Q8NFJ6 UniProtKB Natural variant 268 268 . . . ID=VAR_030963;Note=In HH3%3B benign%3B signaling activity is impaired. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18826963,ECO:0000269|PubMed:22927827;Dbxref=dbSNP:rs78861628,PMID:17054399,PMID:18826963,PMID:22927827 Q8NFJ6 UniProtKB Natural variant 290 290 . . . ID=VAR_030964;Note=In HH3%3B phenotype consistent with Kallmann syndrome%3B signaling activity is impaired%3B impaired cell surface-targeting. P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18826963,ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs149992595,PMID:17054399,PMID:18826963,PMID:25077900 Q8NFJ6 UniProtKB Natural variant 323 323 . . . ID=VAR_030965;Note=In HH3%3B phenotype consistent with Kallmann syndrome%3B signaling activity is impaired. M->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18826963;Dbxref=dbSNP:rs74315419,PMID:17054399,PMID:18826963 Q8NFJ6 UniProtKB Natural variant 331 331 . . . ID=VAR_030966;Note=In HH3%3B likely benign. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17054399,ECO:0000269|PubMed:18559922,ECO:0000269|PubMed:18826963,ECO:0000269|Ref.3;Dbxref=dbSNP:rs117106081,PMID:17054399,PMID:18559922,PMID:18826963 Q8NFJ6 UniProtKB Natural variant 334 334 . . . ID=VAR_072979;Note=In HH3%3B phenotype consistent with Kallmann syndrome. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs371564610,PMID:25077900 Q8NFJ6 UniProtKB Natural variant 335 335 . . . ID=VAR_030967;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17054399;Dbxref=dbSNP:rs755562438,PMID:17054399 Q8NFJ6 UniProtKB Natural variant 357 357 . . . ID=VAR_072176;Note=In HH3. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18559922;Dbxref=dbSNP:rs375036628,PMID:18559922