HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2)
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| Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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11234 |
Gene nameGene Name - the full gene name approved by the HGNC.
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HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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HPS5 |
SynonymsGene synonyms aliases
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AIBP63, BLOC2S2 |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11p15.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
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| UniProt ID |
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 |
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Sequence |
MAFVPVIPESYSHVLAEFESLDPLLSALRLDSSRLKCTSIAVSRKWLALGSSGGGLHLIQ
KEGWKHRLFLSHREGAISQVACCLHDDDYVAVATSQGLVVVWELNQERRGKPEQMYVSSE
HKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVV
QLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCAR
PGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSE
HCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERC
VERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEEL
ILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDER
FKEFTSQQEEDLPDQCCGSHGNEDNVSHAPVMFETDKNETFLPFGIPLPFRSPSPLVSLQ
AVKESVSSFVRKTTEKIGTLHTSPDLKVRPELRGDEQSCEEDVSSDTCPKEEDTEEEKEV
TSPPPEEDRFQELKVATAEAMTKLQDPLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVS
DTDNSSMKLNQDVLLVNESKKGILDEDNEKEKRDSLGNEESVDKTACECVRSPRESLDDL
FQICSPCAIASGLRNDLAELTTLCLELNVLNSKIKSTSGHVDHTLQQYSPEILACQFLKK
YFFLLNLKRAKESIKLSYSNSPSVWDTFIEGLKEMASSNPVYMEMEKGDLPTRLKLLDDE
VPFDSPLLVVYATRLYEKFGESALRSLIKFFPSILPSDIIQLCHHHPAEFLAYLDSLVKS
RPEDQRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLI
LHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNG
WIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWS
LLQECGLALELSEKFTRTCDILRIAEKRQRALIQSMLEKCDRFLWSQQA
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| Sequence length |
1129 |
| Interactions |
View interactions |
| Associated diseases
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| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Albinism |
Albinism |
rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042 |
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| Hermansky-pudlak syndrome |
Hermanski-Pudlak Syndrome, HERMANSKY-PUDLAK SYNDROME 5 |
rs281865116, rs281865113, rs281865103, rs104893945, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs201227603, rs281865093, rs397507168, rs281865095, rs121908316, rs281865163, rs281865082, rs121908385, rs121908386, rs281865081, rs281865077, rs121908904, rs1000881595, rs121908905, rs121908906, rs121908907, rs281865084, rs281865086, rs281865088, rs281865090, rs281865075, rs281865076, rs281865080, rs281865104, rs281865105, rs397507169, rs281865101, rs201348482, rs1564899492, rs281865114, rs281865110, rs281865107, rs281865112, rs727502866, rs786205464, rs869312835, rs869312836, rs869312837, rs869312838, rs369053765, rs879255646, rs886041723, rs1591055649, rs753928208, rs113304476, rs1131692151, rs1131692149, rs1131692146, rs1131692148, rs1131692147, rs764296457, rs1131692150, rs1131692332, rs1131692333, rs766602179, rs281865115, rs1554903728, rs1220869113, rs773323079, rs1554948134, rs1486224265, rs1277509410, rs1553750083, rs372020804, rs1564899012, rs1590262288, rs753185316, rs1553750097, rs780183200, rs1576695913, rs1576708708, rs1590262450, rs756471925, rs1478574193, rs1590263807, rs1590263820, rs779921624, rs755827664, rs374689398, rs886077189, rs1591120765, rs1260083432, rs748883997, rs750685598, rs778152054, rs755083879, rs1488175163, rs1591092841, rs1576687466, rs756325364, rs1591002808, rs1591045080, rs1602079277, rs1591109881, rs1591031929, rs200079039, rs1595560288, rs772475341, rs1330496818, rs1745947620, rs552340796, rs1453977337, rs754841982, rs1568469902, rs1763106978 |
31064749, 26785811, 28296950, 12548288, 15296495, 28640947 |
| Ocular albinism |
Albinism, Ocular |
rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787 |
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| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Hermansky-pudlak syndrome without pulmonary fibrosis |
Hermansky-Pudlak syndrome without pulmonary fibrosis |
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| Horizontal nystagmus |
Horizontal Nystagmus |
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| Strabismus |
Strabismus |
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