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HPS4 Gene

protein-coding   GIFtS: 56
GCID: GC22M026840

Hermansky-Pudlak Syndrome 4

  See HPS4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hermansky-Pudlak Syndrome 41 2
Light-Ear Protein Homolog2 3
LE2
Hermansky-Pudlak Syndrome 4 Protein2
KIAA16673

External Ids:    HGNC: 158441   Entrez Gene: 897812   Ensembl: ENSG000001000997   OMIM: 6066825   UniProtKB: Q9NQG73   

Export aliases for HPS4 gene to outside databases

Previous GC identifers: GC22M023544 GC22M025172 GC22M025177 GC22M009795


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HPS4 Gene:
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC
complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet
dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2012)

GeneCards Summary for HPS4 Gene:
HPS4 (Hermansky-Pudlak syndrome 4) is a protein-coding gene. Diseases associated with HPS4 include hermansky-pudlak syndrome 4, and hermansky-pudlak syndrome 1. GO annotations related to this gene include protein dimerization activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: HPS4_HUMAN, Q9NQG7
Function: May function in the pathway of organelle biogenesis

Gene Wiki entry for HPS4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HPS4 gene promoter:
         COUP-TF1   COUP-TF   STAT3   COUP   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HPS4 promoter sequence
   Search Chromatin IP Primers for HPS4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HPS4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22cen-q12.3   Ensembl cytogenetic band:  22q12.1   HGNC cytogenetic band: 22q12.1

HPS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HPS4 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M026840:  view genomic region     (about GC identifiers)

Start:
26,839,389 bp from pter      End:
26,879,820 bp from pter
Size:
40,432 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HPS4_HUMAN, Q9NQG7 (See protein sequence)
Recommended Name: Hermansky-Pudlak syndrome 4 protein  
Size: 708 amino acids; 76919 Da
Sequence caution: Sequence=BAB33337.1; Type=Frameshift; Positions=237; Sequence=BAB33337.1; Type=Miscellaneous
discrepancy; Note=Intron retention; Sequence=BC035614; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: B1AHQ4 Q5H8V6 Q96LX6 Q9BY93 Q9UH37 Q9UH38
Alternative splicing: 4 isoforms:  Q9NQG7-1   Q9NQG7-2   Q9NQG7-3   Q9NQG7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HPS4: NX_Q9NQG7

Explore proteomics data for HPS4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HPS4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_071364.4  NP_690054.1  

    ENSEMBL proteins: 
     ENSP00000381213   ENSP00000399705   ENSP00000430291   ENSP00000384185   ENSP00000338457  
     ENSP00000406764   ENSP00000415081   ENSP00000381210  

    HPS4 Human Recombinant Protein Products:

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    Novus Biologicals HPS4 Lysate
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    Cloud-Clone Corp. Proteins for HPS4

     
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    Search eBioscience for ELISAs for HPS4 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026091 HPS4

    Graphical View of Domain Structure for InterPro Entry Q9NQG7

    ProtoNet protein and cluster: Q9NQG7


    Find genes that share domains with HPS4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HPS4_HUMAN, Q9NQG7
    Function: May function in the pathway of organelle biogenesis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12756248
    GO:0042803protein homodimerization activity IPI12663659
    GO:0046983protein dimerization activity IPI12663659
         
    Find genes that share ontologies with HPS4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HPS4:
     Decreased Hepatitis C virus re 

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hps4):
     cardiovascular system  cellular  craniofacial  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  integument  pigmentation  renal/urinary system  vision/eye 

    Find genes that share phenotypes with HPS4           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HPS4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HPS4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HPS4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HPS4

    miRNA
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    miRTarBase miRNAs that target HPS4:
    hsa-mir-26b-5p (MIRT029994), hsa-mir-1 (MIRT002809), hsa-mir-1180-3p (MIRT035919)

    Block miRNA regulation of human, mouse, rat HPS4 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate HPS4:
    hsa-miR-30c hsa-miR-30d hsa-miR-888 hsa-miR-30a hsa-miR-30b hsa-miR-129-3p hsa-miR-129* hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidHPS4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HPS4

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    GenScript: all cDNA clones in your preferred vector (see all 2): HPS4 (NM_152841)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    nucleus3
    cytosol2
    endosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12756248
    GO:0005764lysosome IDA12663659
    GO:0016020membrane IDA12756248
    GO:0016023cytoplasmic membrane-bounded vesicle ----
    GO:0031085BLOC-3 complex IPI12756248

    Find genes that share ontologies with HPS4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HPS4
    Interactions:

        GeneGlobe Interaction Network for HPS4

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for HPS4 (Q9NQG71, 3 ENSP000003384574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HPS1Q929021, 3, ENSP000003266494EBI-704377,EBI-704347 I2D: score=2 STRING: ENSP00000326649
    RAC1P630003, ENSP000003484614I2D: score=3 STRING: ENSP00000348461
    RPS3P233963I2D: score=1 
    TMEM55BQ86T033I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting IDA12663659
    GO:0006996organelle organization ----
    GO:0007040lysosome organization IDA12663659
    GO:0007596blood coagulation IEA--
    GO:0007599hemostasis TAS11836498

    Find genes that share ontologies with HPS4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HPS4



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HPS4 gene (5 alternative transcripts): 
    NM_022081.5  NM_152841.2  NM_152840.1  NM_152842.1  NM_152843.1  

    Unigene Cluster for HPS4:

    Hermansky-Pudlak syndrome 4
    Hs.474436  [show with all ESTs]
    Unigene Representative Sequence: NR_073135
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000519774 ENST00000493455 ENST00000491142 ENST00000398145(uc003acl.3 uc003acn.3)
    ENST00000429411 ENST00000464362(uc003ach.3) ENST00000402105 ENST00000336873
    ENST00000439453 ENST00000466781(uc003ack.3 uc010gvd.1) ENST00000496385
    ENST00000485842 ENST00000422379 ENST00000459918 ENST00000481910(uc003aco.1)
    ENST00000483631 ENST00000479064 ENST00000473782
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HPS4 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate HPS4:
    hsa-miR-30c hsa-miR-30d hsa-miR-888 hsa-miR-30a hsa-miR-30b hsa-miR-129-3p hsa-miR-129* hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidHPS4 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HPS4
    Predesigned siRNA for gene silencing in human, mouse, rat HPS4
    Clone
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    OriGene ORF clones in mouse, rat for HPS4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HPS4 (NM_152841)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HPS4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HPS4
    Primer
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    OriGene qPCR primer pairs and template standards for HPS4
    OriGene qSTAR qPCR primer pairs in human, mouse for HPS4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HPS4
      QuantiTect SYBR Green Assays in human, mouse, rat HPS4
      QuantiFast Probe-based Assays in human, mouse, rat HPS4

    Additional mRNA sequence: 

    AK054717.1 AK057648.1 AK095406.1 AK097529.1 AK123691.1 AK290211.1 AL365512.1 AL713795.1 
    AY043416.1 BC028625.1 BC035614.1 BC050285.1 BC065030.1 CR456392.1 NR_073135.1 NR_073136.1 

    23 DOTS entries:

    DT.100732145  DT.75120241  DT.100785566  DT.100785567  DT.100785565  DT.120665885  DT.100773633  DT.91742410 
    DT.100785568  DT.408739  DT.91874162  DT.95353765  DT.101975758  DT.40125143  DT.120665936  DT.91742414 
    DT.95156232  DT.97840583  DT.120665933  DT.91742411  DT.120665922  DT.312064  DT.97840582 

    Selected AceView cDNA sequences (see all 268):

    BU154999 AY043416 AI801578 Z40194 AI076395 AA251765 BU069496 BU617290 
    AW629829 CD300278 AI911535 AI695887 BU619987 BE550121 BX108547 BM557146 
    AL365512 H71047 AI758719 BM672973 BM696944 AA668521 BX328460 NM_022081 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HPS4 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^
    SP1:                                                                                                              -                       -                     
    SP2:                                                                                                              -                       -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                              -                       -                     
    SP5:                                                                                                                                      -                 -   

    ExUns: 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20
    SP1:  -                                   -                                 
    SP2:                                                                        
    SP3:                                      -                                 
    SP4:                          -     -     -                                 
    SP5:  -     -     -     -                                                   


    ECgene alternative splicing isoforms for HPS4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HPS4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGTGAACT
    HPS4 Expression
    About this image


    HPS4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
    HPS4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HPS4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474436
        Custom PCR Arrays for HPS4
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat HPS4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HPS4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HPS4 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hps41 , 5 Hermansky-Pudlak syndrome 4 homolog (human)1, 5 72.26(n)1
    65.82(a)1
      5 (54.69 cM)5
    1922321  NM_138646.31  NP_619587.31 
     1123430835 
    chicken
    (Gallus gallus)
    Aves HPS41 Hermansky-Pudlak syndrome 4 70.3(n)
    68.68(a)
      416907  XM_415198.3  XP_415198.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ093780.12   -- 71.93(n)    BJ093780.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC052117.12   -- 74.33(n)   393296  BC052117.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HPS46
    Hermansky-Pudlak Syndrome 4 ortholog
    16(a)
    1 ↔ 1
    2R(13571102-13578327)


    ENSEMBL Gene Tree for HPS4 (if available)
    TreeFam Gene Tree for HPS4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HPS4 gene
    1 SIMAP similar gene for HPS4 using alignment to 7 protein entries:     HPS4_HUMAN (see all proteins):
    bK1048E9.4

    Find genes that share paralogs with HPS4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HPS4 (see all 877)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1194710211,2
    Cpathogenic110777360(-) TCCTCC/TAGGCC 6 Q * stg10--------
    rs1194710251,2
    Cpathogenic110787992(-) CTCAGG/TAGCAG 6 E * stg10--------
    rs1194710231,2
    Cpathogenic110788007(-) TTCACC/TGAACA 6 R * stg10--------
    rs1194710221,2
    Cpathogenic110790208(-) TTCTGA/C/TAGACC 6 Q * stg10--------
    rs1194710241,2
    Cpathogenic110791825(-) GCACGG/TAGTGG 6 E * stg10--------
    rs105679771,2
    C--9813233(+) AAAAA-/ATATATA 4 -- int10--------
    rs1409819231,2
    --10769879(+) GAGGGC/TGACTT 4 -- ds50010--------
    rs1179353331,2
    C,F--10769880(+) AGGGCG/AACTTC 4 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1447961001,2
    --10769900(+) CCTGGA/GCTCCA 4 -- ds50010--------
    rs1848467451,2
    --10769912(+) TTGCTA/GCCACC 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for HPS4 (26839389 - 26879820 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HPS4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519472CNV Loss19592680
    nsv7350OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): HPS4
    Locus Specific Mutation Databases (LSDB): HPS4

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HPS4
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606682   
    OMIM disorders: 614073  
    UniProtKB/Swiss-Prot: HPS4_HUMAN, Q9NQG7
  • Hermansky-Pudlak syndrome 4 (HPS4) [MIM:614073]: A form of Hermansky-Pudlak syndrome, a genetically
    heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet
    storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic
    organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is
    associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 6 diseases for HPS4:    
    About MalaCards
    hermansky-pudlak syndrome 4    hermansky-pudlak syndrome 1    intestinal disease    hermansky-pudlak syndrome
    platelet storage pool deficiency    albinism

    4 diseases from the University of Copenhagen DISEASES database for HPS4:
    Hermansky-Pudlak syndrome     Oculocutaneous albinism     Platelet storage pool deficiency     Pulmonary fibrosis

    Find genes that share disorders with HPS4           About GenesLikeMe

    1 Novoseek inferred disease relationship for HPS4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hermansky-pudlak syndrome 95 3 11836498 (1), 12756248 (1), 18326704 (1)

    GeneTests: HPS4
    GeneReviews: HPS4
    Genetic Association Database (GAD): HPS4
    Human Genome Epidemiology (HuGE) Navigator: HPS4 (2 documents)

    Export disorders for HPS4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HPS4 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with HPS4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. (PubMed id 11836498)1, 2, 3, 9 Suzuki T.... Spritz R.A. (Nat. Genet. 2002)
    2. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. (PubMed id 18463683)1, 4, 9 Hutton S.M. and Spritz R.A. (J. Invest. Dermatol. 2008)
    3. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. (PubMed id 16431308)1, 4 Hussain N....Mannon P. (Clin. Gastroenterol. Hepatol. 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. (PubMed id 12663659)1, 3 Chiang P.W....Spritz R.A. (J. Biol. Chem. 2003)
    7. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)1, 2 Collins J.E.... Dunham I. (Genome Res. 2003)
    8. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)1, 2 Hirosawa M.... Ohara O. (DNA Res. 2001)
    9. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    10. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. (PubMed id 12756248)1, 9 Martina J.A....Bonifacino J.S. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 89781 HGNC: 15844 AceView: HPS4 Ensembl:ENSG00000100099 euGenes: HUgn89781
    ECgene: HPS4 H-InvDB: HPS4

    (According to HUGE)
    About This Section

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    HUGE: KIAA1667

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HPS4 Pharmacogenomics, SNPs, Pathways
    Mutations of the HPS4 genehttp://www.retina-international.org/files/sci-news/lemut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HPS4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HPS4 gene:
    Search GeneIP for patents involving HPS4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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