Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11234
Gene name	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Gene symbol	HPS5
Synonyms (NCBI Gene)	AIBP63BLOC2S2
Chromosome	11
Chromosome location	11p15.1
Summary	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61884288	G>A	Benign, pathogenic, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs113304476	T>C	Pathogenic	Intron variant
rs200449378	T>A,C	Pathogenic	Intron variant
rs281865101	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs281865102	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs281865103	CTAA>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs281865104	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs281865105	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs397507169	->TC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs753928208	GAG>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs755827664	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs764296457	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs766602179	G>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, frameshift variant
rs779921624	G>A,C,T	Likely-pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant, intron variant
rs886041723	AACA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs1131692146	C>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1131692147	GAGAG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131692148	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1131692149	A>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1131692150	C>T	Pathogenic	Intron variant, synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1131692151	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554948134	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030698	hsa-miR-21-5p	Microarray	18591254
MIRT1054261	hsa-miR-1183	CLIP-seq
MIRT1054262	hsa-miR-1197	CLIP-seq
MIRT1054263	hsa-miR-1207-5p	CLIP-seq
MIRT1054264	hsa-miR-1227	CLIP-seq
MIRT1054265	hsa-miR-1245	CLIP-seq
MIRT1054266	hsa-miR-1247	CLIP-seq
MIRT1054267	hsa-miR-1261	CLIP-seq
MIRT1054268	hsa-miR-1275	CLIP-seq
MIRT1054269	hsa-miR-1276	CLIP-seq
MIRT1054270	hsa-miR-1293	CLIP-seq
MIRT1054271	hsa-miR-1305	CLIP-seq
MIRT1054272	hsa-miR-135a	CLIP-seq
MIRT1054273	hsa-miR-135b	CLIP-seq
MIRT1054274	hsa-miR-141	CLIP-seq
MIRT1054275	hsa-miR-150	CLIP-seq
MIRT1054276	hsa-miR-186	CLIP-seq
MIRT1054277	hsa-miR-1911	CLIP-seq
MIRT1054278	hsa-miR-200a	CLIP-seq
MIRT1054279	hsa-miR-200b	CLIP-seq
MIRT1054280	hsa-miR-200c	CLIP-seq
MIRT1054281	hsa-miR-21	CLIP-seq
MIRT1054282	hsa-miR-302a	CLIP-seq
MIRT1054283	hsa-miR-302b	CLIP-seq
MIRT1054284	hsa-miR-302c	CLIP-seq
MIRT1054285	hsa-miR-302d	CLIP-seq
MIRT1054286	hsa-miR-302e	CLIP-seq
MIRT1054287	hsa-miR-3120-5p	CLIP-seq
MIRT1054288	hsa-miR-3143	CLIP-seq
MIRT1054289	hsa-miR-3163	CLIP-seq
MIRT1054290	hsa-miR-3169	CLIP-seq
MIRT1054291	hsa-miR-3176	CLIP-seq
MIRT1054292	hsa-miR-338-3p	CLIP-seq
MIRT1054293	hsa-miR-3545-3p	CLIP-seq
MIRT1054294	hsa-miR-3607-5p	CLIP-seq
MIRT1054295	hsa-miR-3653	CLIP-seq
MIRT1054296	hsa-miR-3658	CLIP-seq
MIRT1054297	hsa-miR-3669	CLIP-seq
MIRT1054298	hsa-miR-369-3p	CLIP-seq
MIRT1054299	hsa-miR-370	CLIP-seq
MIRT1054300	hsa-miR-372	CLIP-seq
MIRT1054301	hsa-miR-373	CLIP-seq
MIRT1054302	hsa-miR-374c	CLIP-seq
MIRT1054303	hsa-miR-3922-3p	CLIP-seq
MIRT1054304	hsa-miR-3925-3p	CLIP-seq
MIRT1054305	hsa-miR-3943	CLIP-seq
MIRT1054306	hsa-miR-4260	CLIP-seq
MIRT1054307	hsa-miR-4272	CLIP-seq
MIRT1054308	hsa-miR-429	CLIP-seq
MIRT1054309	hsa-miR-4311	CLIP-seq
MIRT1054310	hsa-miR-4323	CLIP-seq
MIRT1054311	hsa-miR-4327	CLIP-seq
MIRT1054312	hsa-miR-4426	CLIP-seq
MIRT1054313	hsa-miR-4483	CLIP-seq
MIRT1054314	hsa-miR-4501	CLIP-seq
MIRT1054315	hsa-miR-4513	CLIP-seq
MIRT1054316	hsa-miR-4522	CLIP-seq
MIRT1054317	hsa-miR-4530	CLIP-seq
MIRT1054318	hsa-miR-4647	CLIP-seq
MIRT1054319	hsa-miR-4651	CLIP-seq
MIRT1054320	hsa-miR-4662b	CLIP-seq
MIRT1054321	hsa-miR-4663	CLIP-seq
MIRT1054322	hsa-miR-4665-5p	CLIP-seq
MIRT1054323	hsa-miR-4672	CLIP-seq
MIRT1054324	hsa-miR-4680-5p	CLIP-seq
MIRT1054325	hsa-miR-4698	CLIP-seq
MIRT1054326	hsa-miR-4699-5p	CLIP-seq
MIRT1054327	hsa-miR-4703-3p	CLIP-seq
MIRT1054328	hsa-miR-4713-5p	CLIP-seq
MIRT1054329	hsa-miR-4724-3p	CLIP-seq
MIRT1054330	hsa-miR-4728-3p	CLIP-seq
MIRT1054331	hsa-miR-4731-3p	CLIP-seq
MIRT1054332	hsa-miR-4735-5p	CLIP-seq
MIRT1054333	hsa-miR-4736	CLIP-seq
MIRT1054334	hsa-miR-4740-5p	CLIP-seq
MIRT1054335	hsa-miR-4757-5p	CLIP-seq
MIRT1054336	hsa-miR-4760-3p	CLIP-seq
MIRT1054337	hsa-miR-4763-3p	CLIP-seq
MIRT1054338	hsa-miR-4775	CLIP-seq
MIRT1054339	hsa-miR-4801	CLIP-seq
MIRT1054340	hsa-miR-490-5p	CLIP-seq
MIRT1054341	hsa-miR-508-5p	CLIP-seq
MIRT1054342	hsa-miR-520a-3p	CLIP-seq
MIRT1054343	hsa-miR-520b	CLIP-seq
MIRT1054344	hsa-miR-520c-3p	CLIP-seq
MIRT1054345	hsa-miR-520d-3p	CLIP-seq
MIRT1054346	hsa-miR-520e	CLIP-seq
MIRT1054347	hsa-miR-520f	CLIP-seq
MIRT1054348	hsa-miR-532-3p	CLIP-seq
MIRT1054349	hsa-miR-543	CLIP-seq
MIRT1054350	hsa-miR-545	CLIP-seq
MIRT1054351	hsa-miR-548c-3p	CLIP-seq
MIRT1054352	hsa-miR-548n	CLIP-seq
MIRT1054353	hsa-miR-562	CLIP-seq
MIRT1054354	hsa-miR-576-5p	CLIP-seq
MIRT1054355	hsa-miR-583	CLIP-seq
MIRT1054356	hsa-miR-590-3p	CLIP-seq
MIRT1054357	hsa-miR-590-5p	CLIP-seq
MIRT1054358	hsa-miR-607	CLIP-seq
MIRT1054359	hsa-miR-608	CLIP-seq
MIRT1054360	hsa-miR-636	CLIP-seq
MIRT1054361	hsa-miR-655	CLIP-seq
MIRT1054362	hsa-miR-659	CLIP-seq
MIRT1054363	hsa-miR-9	CLIP-seq
MIRT1054364	hsa-miR-942	CLIP-seq
MIRT1054267	hsa-miR-1261	CLIP-seq
MIRT1054269	hsa-miR-1276	CLIP-seq
MIRT1054309	hsa-miR-4311	CLIP-seq
MIRT1054340	hsa-miR-490-5p	CLIP-seq
MIRT1054355	hsa-miR-583	CLIP-seq
MIRT1549639	hsa-miR-4480	CLIP-seq
MIRT1054261	hsa-miR-1183	CLIP-seq
MIRT1054262	hsa-miR-1197	CLIP-seq
MIRT1054263	hsa-miR-1207-5p	CLIP-seq
MIRT2012331	hsa-miR-1228	CLIP-seq
MIRT2012332	hsa-miR-1229	CLIP-seq
MIRT2012333	hsa-miR-1234	CLIP-seq
MIRT1054265	hsa-miR-1245	CLIP-seq
MIRT1054266	hsa-miR-1247	CLIP-seq
MIRT2012334	hsa-miR-1254	CLIP-seq
MIRT1054268	hsa-miR-1275	CLIP-seq
MIRT1054269	hsa-miR-1276	CLIP-seq
MIRT1054270	hsa-miR-1293	CLIP-seq
MIRT1054271	hsa-miR-1305	CLIP-seq
MIRT1054277	hsa-miR-1911	CLIP-seq
MIRT1054279	hsa-miR-200b	CLIP-seq
MIRT1054280	hsa-miR-200c	CLIP-seq
MIRT2012335	hsa-miR-2053	CLIP-seq
MIRT2012336	hsa-miR-3116	CLIP-seq
MIRT1054291	hsa-miR-3176	CLIP-seq
MIRT1054293	hsa-miR-3545-3p	CLIP-seq
MIRT1054294	hsa-miR-3607-5p	CLIP-seq
MIRT1054295	hsa-miR-3653	CLIP-seq
MIRT1054296	hsa-miR-3658	CLIP-seq
MIRT2012337	hsa-miR-3663-5p	CLIP-seq
MIRT1054297	hsa-miR-3669	CLIP-seq
MIRT2012338	hsa-miR-3690	CLIP-seq
MIRT1054298	hsa-miR-369-3p	CLIP-seq
MIRT1054302	hsa-miR-374c	CLIP-seq
MIRT1054303	hsa-miR-3922-3p	CLIP-seq
MIRT1054305	hsa-miR-3943	CLIP-seq
MIRT1054306	hsa-miR-4260	CLIP-seq
MIRT2012339	hsa-miR-4263	CLIP-seq
MIRT1054307	hsa-miR-4272	CLIP-seq
MIRT1054308	hsa-miR-429	CLIP-seq
MIRT1054309	hsa-miR-4311	CLIP-seq
MIRT1054310	hsa-miR-4323	CLIP-seq
MIRT2012340	hsa-miR-4423-5p	CLIP-seq
MIRT1054312	hsa-miR-4426	CLIP-seq
MIRT2012341	hsa-miR-4455	CLIP-seq
MIRT1549639	hsa-miR-4480	CLIP-seq
MIRT1054313	hsa-miR-4483	CLIP-seq
MIRT1054314	hsa-miR-4501	CLIP-seq
MIRT1054316	hsa-miR-4522	CLIP-seq
MIRT2012342	hsa-miR-4528	CLIP-seq
MIRT2012343	hsa-miR-4535	CLIP-seq
MIRT2012344	hsa-miR-4635	CLIP-seq
MIRT1054318	hsa-miR-4647	CLIP-seq
MIRT1054319	hsa-miR-4651	CLIP-seq
MIRT1054320	hsa-miR-4662b	CLIP-seq
MIRT1054321	hsa-miR-4663	CLIP-seq
MIRT1054322	hsa-miR-4665-5p	CLIP-seq
MIRT1054324	hsa-miR-4680-5p	CLIP-seq
MIRT2012345	hsa-miR-4694-5p	CLIP-seq
MIRT1054325	hsa-miR-4698	CLIP-seq
MIRT1054327	hsa-miR-4703-3p	CLIP-seq
MIRT1054333	hsa-miR-4736	CLIP-seq
MIRT1054335	hsa-miR-4757-5p	CLIP-seq
MIRT1054337	hsa-miR-4763-3p	CLIP-seq
MIRT1054338	hsa-miR-4775	CLIP-seq
MIRT2012346	hsa-miR-4781-3p	CLIP-seq
MIRT2012347	hsa-miR-4789-5p	CLIP-seq
MIRT2012348	hsa-miR-492	CLIP-seq
MIRT1054351	hsa-miR-548c-3p	CLIP-seq
MIRT1054352	hsa-miR-548n	CLIP-seq
MIRT1054353	hsa-miR-562	CLIP-seq
MIRT2012349	hsa-miR-569	CLIP-seq
MIRT1054354	hsa-miR-576-5p	CLIP-seq
MIRT1054355	hsa-miR-583	CLIP-seq
MIRT1054356	hsa-miR-590-3p	CLIP-seq
MIRT1054358	hsa-miR-607	CLIP-seq
MIRT1054359	hsa-miR-608	CLIP-seq
MIRT2012350	hsa-miR-609	CLIP-seq
MIRT1054361	hsa-miR-655	CLIP-seq
MIRT1054362	hsa-miR-659	CLIP-seq
MIRT2012351	hsa-miR-885-5p	CLIP-seq
MIRT1054363	hsa-miR-9	CLIP-seq
MIRT1054261	hsa-miR-1183	CLIP-seq
MIRT1054262	hsa-miR-1197	CLIP-seq
MIRT1054267	hsa-miR-1261	CLIP-seq
MIRT1054269	hsa-miR-1276	CLIP-seq
MIRT1054274	hsa-miR-141	CLIP-seq
MIRT1054275	hsa-miR-150	CLIP-seq
MIRT1054276	hsa-miR-186	CLIP-seq
MIRT1054277	hsa-miR-1911	CLIP-seq
MIRT1054278	hsa-miR-200a	CLIP-seq
MIRT1054279	hsa-miR-200b	CLIP-seq
MIRT1054280	hsa-miR-200c	CLIP-seq
MIRT2244665	hsa-miR-2276	CLIP-seq
MIRT1054287	hsa-miR-3120-5p	CLIP-seq
MIRT1054288	hsa-miR-3143	CLIP-seq
MIRT1054292	hsa-miR-338-3p	CLIP-seq
MIRT1054294	hsa-miR-3607-5p	CLIP-seq
MIRT1054295	hsa-miR-3653	CLIP-seq
MIRT1054296	hsa-miR-3658	CLIP-seq
MIRT1054297	hsa-miR-3669	CLIP-seq
MIRT1054298	hsa-miR-369-3p	CLIP-seq
MIRT1054302	hsa-miR-374c	CLIP-seq
MIRT1054304	hsa-miR-3925-3p	CLIP-seq
MIRT1054305	hsa-miR-3943	CLIP-seq
MIRT1054307	hsa-miR-4272	CLIP-seq
MIRT2244666	hsa-miR-4276	CLIP-seq
MIRT1054308	hsa-miR-429	CLIP-seq
MIRT1054309	hsa-miR-4311	CLIP-seq
MIRT1054310	hsa-miR-4323	CLIP-seq
MIRT1054314	hsa-miR-4501	CLIP-seq
MIRT1054317	hsa-miR-4530	CLIP-seq
MIRT1054321	hsa-miR-4663	CLIP-seq
MIRT1054325	hsa-miR-4698	CLIP-seq
MIRT1054327	hsa-miR-4703-3p	CLIP-seq
MIRT1054330	hsa-miR-4728-3p	CLIP-seq
MIRT1054332	hsa-miR-4735-5p	CLIP-seq
MIRT1054336	hsa-miR-4760-3p	CLIP-seq
MIRT2244667	hsa-miR-4772-3p	CLIP-seq
MIRT2244668	hsa-miR-4786-3p	CLIP-seq
MIRT2244669	hsa-miR-4802-3p	CLIP-seq
MIRT1054340	hsa-miR-490-5p	CLIP-seq
MIRT1054341	hsa-miR-508-5p	CLIP-seq
MIRT1054349	hsa-miR-543	CLIP-seq
MIRT2244670	hsa-miR-544	CLIP-seq
MIRT1054350	hsa-miR-545	CLIP-seq
MIRT1054352	hsa-miR-548n	CLIP-seq
MIRT1054353	hsa-miR-562	CLIP-seq
MIRT1054354	hsa-miR-576-5p	CLIP-seq
MIRT1054355	hsa-miR-583	CLIP-seq
MIRT1054361	hsa-miR-655	CLIP-seq
MIRT1054362	hsa-miR-659	CLIP-seq
MIRT2244671	hsa-miR-671-5p	CLIP-seq
MIRT2244672	hsa-miR-767-3p	CLIP-seq
MIRT1054363	hsa-miR-9	CLIP-seq
MIRT2547593	hsa-miR-105	CLIP-seq
MIRT1054263	hsa-miR-1207-5p	CLIP-seq
MIRT2012333	hsa-miR-1234	CLIP-seq
MIRT2012334	hsa-miR-1254	CLIP-seq
MIRT1054267	hsa-miR-1261	CLIP-seq
MIRT1054268	hsa-miR-1275	CLIP-seq
MIRT1054269	hsa-miR-1276	CLIP-seq
MIRT1054270	hsa-miR-1293	CLIP-seq
MIRT1054271	hsa-miR-1305	CLIP-seq
MIRT1054274	hsa-miR-141	CLIP-seq
MIRT2547594	hsa-miR-183	CLIP-seq
MIRT1054277	hsa-miR-1911	CLIP-seq
MIRT2547595	hsa-miR-1912	CLIP-seq
MIRT2547596	hsa-miR-19a	CLIP-seq
MIRT2547597	hsa-miR-19b	CLIP-seq
MIRT1054278	hsa-miR-200a	CLIP-seq
MIRT2547598	hsa-miR-205	CLIP-seq
MIRT2012336	hsa-miR-3116	CLIP-seq
MIRT2547599	hsa-miR-3124-3p	CLIP-seq
MIRT2547600	hsa-miR-3135	CLIP-seq
MIRT1054291	hsa-miR-3176	CLIP-seq
MIRT2547601	hsa-miR-3650	CLIP-seq
MIRT1054295	hsa-miR-3653	CLIP-seq
MIRT1054296	hsa-miR-3658	CLIP-seq
MIRT2012338	hsa-miR-3690	CLIP-seq
MIRT2547602	hsa-miR-371-5p	CLIP-seq
MIRT2547603	hsa-miR-371b-5p	CLIP-seq
MIRT1054303	hsa-miR-3922-3p	CLIP-seq
MIRT1054305	hsa-miR-3943	CLIP-seq
MIRT1054306	hsa-miR-4260	CLIP-seq
MIRT1054307	hsa-miR-4272	CLIP-seq
MIRT1054309	hsa-miR-4311	CLIP-seq
MIRT2547604	hsa-miR-4317	CLIP-seq
MIRT1054310	hsa-miR-4323	CLIP-seq
MIRT1054312	hsa-miR-4426	CLIP-seq
MIRT2547605	hsa-miR-4433	CLIP-seq
MIRT2547606	hsa-miR-4459	CLIP-seq
MIRT2547607	hsa-miR-4463	CLIP-seq
MIRT1549639	hsa-miR-4480	CLIP-seq
MIRT1054313	hsa-miR-4483	CLIP-seq
MIRT2547608	hsa-miR-4494	CLIP-seq
MIRT1054316	hsa-miR-4522	CLIP-seq
MIRT2012343	hsa-miR-4535	CLIP-seq
MIRT2547609	hsa-miR-4633-5p	CLIP-seq
MIRT1054318	hsa-miR-4647	CLIP-seq
MIRT1054319	hsa-miR-4651	CLIP-seq
MIRT1054320	hsa-miR-4662b	CLIP-seq
MIRT1054321	hsa-miR-4663	CLIP-seq
MIRT1054322	hsa-miR-4665-5p	CLIP-seq
MIRT1054325	hsa-miR-4698	CLIP-seq
MIRT2547610	hsa-miR-4711-3p	CLIP-seq
MIRT1054330	hsa-miR-4728-3p	CLIP-seq
MIRT1054332	hsa-miR-4735-5p	CLIP-seq
MIRT1054333	hsa-miR-4736	CLIP-seq
MIRT1054335	hsa-miR-4757-5p	CLIP-seq
MIRT1054337	hsa-miR-4763-3p	CLIP-seq
MIRT2547611	hsa-miR-4768-3p	CLIP-seq
MIRT1054338	hsa-miR-4775	CLIP-seq
MIRT1054340	hsa-miR-490-5p	CLIP-seq
MIRT2012348	hsa-miR-492	CLIP-seq
MIRT2547612	hsa-miR-495	CLIP-seq
MIRT2547613	hsa-miR-511	CLIP-seq
MIRT2547614	hsa-miR-513c	CLIP-seq
MIRT2547615	hsa-miR-514b-5p	CLIP-seq
MIRT2547616	hsa-miR-532-5p	CLIP-seq
MIRT1054352	hsa-miR-548n	CLIP-seq
MIRT1054353	hsa-miR-562	CLIP-seq
MIRT1054355	hsa-miR-583	CLIP-seq
MIRT1054356	hsa-miR-590-3p	CLIP-seq
MIRT1054358	hsa-miR-607	CLIP-seq
MIRT1054359	hsa-miR-608	CLIP-seq
MIRT1054362	hsa-miR-659	CLIP-seq
MIRT1054363	hsa-miR-9	CLIP-seq
MIRT2547593	hsa-miR-105	CLIP-seq
MIRT1054263	hsa-miR-1207-5p	CLIP-seq
MIRT2012333	hsa-miR-1234	CLIP-seq
MIRT2012334	hsa-miR-1254	CLIP-seq
MIRT1054268	hsa-miR-1275	CLIP-seq
MIRT1054270	hsa-miR-1293	CLIP-seq
MIRT1054271	hsa-miR-1305	CLIP-seq
MIRT1054274	hsa-miR-141	CLIP-seq
MIRT2547594	hsa-miR-183	CLIP-seq
MIRT1054277	hsa-miR-1911	CLIP-seq
MIRT2547595	hsa-miR-1912	CLIP-seq
MIRT2547596	hsa-miR-19a	CLIP-seq
MIRT2547597	hsa-miR-19b	CLIP-seq
MIRT1054278	hsa-miR-200a	CLIP-seq
MIRT2547598	hsa-miR-205	CLIP-seq
MIRT2012336	hsa-miR-3116	CLIP-seq
MIRT2547599	hsa-miR-3124-3p	CLIP-seq
MIRT2547601	hsa-miR-3650	CLIP-seq
MIRT1054295	hsa-miR-3653	CLIP-seq
MIRT1054296	hsa-miR-3658	CLIP-seq
MIRT1054305	hsa-miR-3943	CLIP-seq
MIRT1054306	hsa-miR-4260	CLIP-seq
MIRT1054307	hsa-miR-4272	CLIP-seq
MIRT2547604	hsa-miR-4317	CLIP-seq
MIRT1054310	hsa-miR-4323	CLIP-seq
MIRT1054312	hsa-miR-4426	CLIP-seq
MIRT2547605	hsa-miR-4433	CLIP-seq
MIRT2547606	hsa-miR-4459	CLIP-seq
MIRT2547607	hsa-miR-4463	CLIP-seq
MIRT1054313	hsa-miR-4483	CLIP-seq
MIRT2547608	hsa-miR-4494	CLIP-seq
MIRT1054316	hsa-miR-4522	CLIP-seq
MIRT1054318	hsa-miR-4647	CLIP-seq
MIRT1054319	hsa-miR-4651	CLIP-seq
MIRT1054320	hsa-miR-4662b	CLIP-seq
MIRT1054321	hsa-miR-4663	CLIP-seq
MIRT1054322	hsa-miR-4665-5p	CLIP-seq
MIRT1054325	hsa-miR-4698	CLIP-seq
MIRT2547610	hsa-miR-4711-3p	CLIP-seq
MIRT1054330	hsa-miR-4728-3p	CLIP-seq
MIRT1054333	hsa-miR-4736	CLIP-seq
MIRT1054337	hsa-miR-4763-3p	CLIP-seq
MIRT2547611	hsa-miR-4768-3p	CLIP-seq
MIRT2547612	hsa-miR-495	CLIP-seq
MIRT2547613	hsa-miR-511	CLIP-seq
MIRT1054352	hsa-miR-548n	CLIP-seq
MIRT1054353	hsa-miR-562	CLIP-seq
MIRT1054358	hsa-miR-607	CLIP-seq
MIRT1054359	hsa-miR-608	CLIP-seq
MIRT1054362	hsa-miR-659	CLIP-seq
MIRT1054363	hsa-miR-9	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25189619, 31611645
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005769	Component	Early endosome	NAS	23247405
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0031084	Component	BLOC-2 complex	IPI	15030569
GO:0043473	Process	Pigmentation	IEA
GO:0048066	Process	Developmental pigmentation	IBA
GO:0060155	Process	Platelet dense granule organization	NAS	23247405
GO:1903232	Process	Melanosome assembly	NAS	23247405

MIM	HGNC	e!Ensembl
607521	17022	ENSG00000110756

Q9UPZ3

Protein name

BLOC-2 complex member HPS5 (Alpha-integrin-binding protein 63) (Hermansky-Pudlak syndrome 5 protein) (Ruby-eye protein 2 homolog) (Ru2)

Protein function

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of genera

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus. {ECO:0000269|PubMed:15296495}.

Sequence

MAFVPVIPESYSHVLAEFESLDPLLSALRLDSSRLKCTSIAVSRKWLALGSSGGGLHLIQ
KEGWKHRLFLSHREGAISQVACCLHDDDYVAVATSQGLVVVWELNQERRGKPEQMYVSSE
HKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVV
QLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCAR
PGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSE
HCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERC
VERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEEL
ILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDER
FKEFTSQQEEDLPDQCCGSHGNEDNVSHAPVMFETDKNETFLPFGIPLPFRSPSPLVSLQ
AVKESVSSFVRKTTEKIGTLHTSPDLKVRPELRGDEQSCEEDVSSDTCPKEEDTEEEKEV
TSPPPEEDRFQELKVATAEAMTKLQDPLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVS
DTDNSSMKLNQDVLLVNESKKGILDEDNEKEKRDSLGNEESVDKTACECVRSPRESLDDL
FQICSPCAIASGLRNDLAELTTLCLELNVLNSKIKSTSGHVDHTLQQYSPEILACQFLKK
YFFLLNLKRAKESIKLSYSNSPSVWDTFIEGLKEMASSNPVYMEMEKGDLPTRLKLLDDE
VPFDSPLLVVYATRLYEKFGESALRSLIKFFPSILPSDIIQLCHHHPAEFLAYLDSLVKS
RPEDQRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLI
LHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNG
WIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWS
LLQECGLALELSEKFTRTCDILRIAEKRQRALIQSMLEKCDRFLWSQQA

Sequence length

1129

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hermansky-Pudlak syndrome	Likely pathogenic; Pathogenic	rs1253458479, rs886041723, rs2494158241, rs767560852, rs761811248, rs766602179, rs779921624, rs755827664	RCV002282953 RCV000851767 RCV003230859 RCV005240830 RCV003988164 RCV000852025 RCV000851734 RCV000852157 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome 5	Likely pathogenic; Pathogenic	rs778500897, rs746844529, rs577034676, rs1253458479, rs281865103, rs886041723, rs2494158241, rs1209723048, rs1262983210, rs2494478049, rs281865104, rs281865105, rs397507169, rs281865101, rs753928208 View all (12 more)	RCV001823686 RCV002503556 RCV002264887 RCV005042782 RCV000003302 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HPS5-related disorder	Likely pathogenic; Pathogenic	rs758338350, rs2494418926, rs761811248	RCV003391366 RCV003393146 RCV004753735	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal bleeding	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKI-PUDLAK SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-2 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME WITHOUT PULMONARY FIBROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Albinism	Albinism	BEFREE	28640947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	35488210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29893118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29090612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	33259846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	38007062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30831392, 31617353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	29019283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	28629835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	BEFREE	27333462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31366902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	29090612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CLINVAR_DG	31064749		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME 5	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	12548288, 26785811, 28296950, 28640947		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 5	Hermansky-Pudlak Syndrome	UNIPROT_DG	15296495		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 5	Hermansky-Pudlak Syndrome	BEFREE	21124955, 30977277		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 5	Hermansky-Pudlak Syndrome	CLINVAR_DG	28640947		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome without pulmonary fibrosis	Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	29090612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27333462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27213353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29945021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30831392, 31617353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30887931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25651236, 28150943, 28923379, 29436828, 30023674, 30282320, 30711558, 31460277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31366902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25576833, 28425859, 28865744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30831390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30887931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30831392		★★★★★ ★☆☆☆☆ Found in Text Mining only

HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2)