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BLOC1S2 Gene

protein-coding   GIFtS: 52
GCID: GC10M102023

Biogenesis Of Lysosomal Organelles Complex-1, Subunit 2

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(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
Biogenesis Of Lysosomal Organelles Complex-1, Subunit 21 2     11 KDa Centrosome Associated Protein2
BLOC-1 Subunit 21 2 3     CEAP112
BLOS22 3 5     Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 22
Centrosome Protein Oncogene1 2     Centrosomal 10 KDa Protein2
CEAP2 3     Centrosome-Associated Protein3
Biogenesis Of Lysosome-Related Organelles Complex-1 Subunit 21     

External Ids:    HGNC: 209841   Entrez Gene: 2829912   Ensembl: ENSG000001960727   OMIM: 6097685   UniProtKB: Q6QNY13   

Export aliases for BLOC1S2 gene to outside databases

Previous GC identifers: GC10M101699 GC10M095662


(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 BLOC1S2 Gene:
This gene encodes a protein with multiple functions. The encoded protein has been found in association with the
centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1
complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on
the X chromosome. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Feb 2012)

GeneCards Summary for BLOC1S2 Gene:
BLOC1S2 (biogenesis of lysosomal organelles complex-1, subunit 2) is a protein-coding gene. GO annotations related to this gene include gamma-tubulin binding and protein C-terminus binding.

UniProtKB/Swiss-Prot: BL1S2_HUMAN, Q6QNY1
Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related
organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1
complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into
neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be
involved in neurite extension. Plays a role in intracellular vesicle trafficking. May play a role in cell
proliferation

Gene Wiki entry for BLOC1S2 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_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the BLOC1S2 gene promoter:
         GR   Max1   Elk-1   GR-beta   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BLOC1S2 promoter sequence
   Search Chromatin IP Primers for BLOC1S2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BLOC1S2


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

Entrez Gene cytogenetic band: 10q24.31   Ensembl cytogenetic band:  10q24.31   HGNC cytogenetic band: 10q24.31

BLOC1S2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLOC1S2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M102023:  view genomic region     (about GC identifiers)

Start:
102,033,713 bp from pter      End:
102,046,469 bp from pter
Size:
12,757 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: BL1S2_HUMAN, Q6QNY1 (See protein sequence)
Recommended Name: Biogenesis of lysosome-related organelles complex 1 subunit 2  
Size: 142 amino acids; 15961 Da
Subunit: Interacts with IFT57 (By similarity). Component of the biogenesis of lysosome-related organelles complex
1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8.
Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and
SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos.
Interacts directly with BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN. Interacts with gamma-tubulin
Sequence caution: Sequence=AAH20494.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH72396.1; Type=Erroneous gene model prediction; Sequence=CAH72821.1; Type=Erroneous gene model
prediction;
Secondary accessions: B4DQV2 Q5W040 Q8WUI8
Alternative splicing: 2 isoforms:  Q6QNY1-1   Q6QNY1-2   

Explore the universe of human proteins at neXtProt for BLOC1S2: NX_Q6QNY1

Explore proteomics data for BLOC1S2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BLOC1S2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001001342.1  NP_001269365.1  NP_001269366.1  NP_001269367.1  NP_001269368.1  NP_776170.2  

    ENSEMBL proteins: 
     ENSP00000410865   ENSP00000359398   ENSP00000464387  

    BLOC1S2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BLOC1S: Biogenesis of lysosomal organelles complex-1 subunits

    1 InterPro protein domain:
     IPR019269 BLOC1_su2

    Graphical View of Domain Structure for InterPro Entry Q6QNY1

    ProtoNet protein and cluster: Q6QNY1

    UniProtKB/Swiss-Prot: BL1S2_HUMAN, Q6QNY1
    Similarity: Belongs to the BLOC1S2 family


    Find genes that share domains with BLOC1S2           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: BL1S2_HUMAN, Q6QNY1
    Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related
    organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1
    complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into
    neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be
    involved in neurite extension. Plays a role in intracellular vesicle trafficking. May play a role in cell
    proliferation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15102850
    GO:0008022protein C-terminus binding IPI18329849
    GO:0043015gamma-tubulin binding IDA15381421
         
    Find genes that share ontologies with BLOC1S2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BLOC1S2:
     Increased G1 DNA content 

         1 MGI phenotypic allele for Bloc1s2a (no phenotypes)

    Find genes that share phenotypes with BLOC1S2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bloc1s2tm1(KOMP)Mbp for BLOC1S2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BLOC1S2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BLOC1S2
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    miRNA
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    miRTarBase miRNAs that target BLOC1S2:
    hsa-mir-128-3p (MIRT021994), hsa-mir-23b-3p (MIRT023471)

    Block miRNA regulation of human, mouse, rat BLOC1S2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BLOC1S2 (see all 27):
    hsa-miR-548j hsa-miR-548i hsa-miR-1297 hsa-miR-3658 hsa-miR-23a hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-26b
    SwitchGear 3'UTR luciferase reporter plasmidBLOC1S2 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for BLOC1S2
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    (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 UniProtKB/Swiss-Prot
    BL1S2_HUMAN, Q6QNY1: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes to the
    centrosomes in a microtubule-dependent manner
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    nucleus5
    endosome2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000930gamma-tubulin complex IDA15381421
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA18188704
    GO:0005813centrosome IEA--

    Find genes that share ontologies with BLOC1S2           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 BLOC1S2
    Interactions:

        Search GeneGlobe Interaction Network for BLOC1S2

    Selected Interacting proteins for BLOC1S2 (Q6QNY11, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLOC1S3Q6QNY01, 3EBI-465872,EBI-465930 I2D: score=5 
    SNAPINO952951, 3EBI-465872,EBI-296723 I2D: score=5 
    BLOC1S1P785371, 3EBI-465872,EBI-348630 I2D: score=4 
    BLOC1S5Q8TDH91, 3EBI-465872,EBI-465861 I2D: score=4 
    BLOC1S6Q9UL451, 3EBI-465872,EBI-465781 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007020microtubule nucleation NAS15381421
    GO:0008089anterograde axon cargo transport ISS--
    GO:0008284positive regulation of cell proliferation IDA15381421
    GO:0008625extrinsic apoptotic signaling pathway via death domain receptors IDA18188704
    GO:0031175neuron projection development ISS--

    Find genes that share ontologies with BLOC1S2           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 BLOC1S2 (BL1S2)



    (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 BLOC1S2 gene (6 alternative transcripts): 
    NM_001001342.2  NM_001282436.1  NM_001282437.1  NM_001282438.1  NM_001282439.1  NM_173809.4  

    Unigene Cluster for BLOC1S2:

    Biogenesis of lysosomal organelles complex-1, subunit 2
    Hs.34906  [show with all ESTs]
    Unigene Representative Sequence: NR_046315
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441611(uc001kqv.1 uc001kqw.1) ENST00000370372 ENST00000579542
    ENST00000361832
    miRNA
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    Block miRNA regulation of human, mouse, rat BLOC1S2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BLOC1S2 (see all 27):
    hsa-miR-548j hsa-miR-548i hsa-miR-1297 hsa-miR-3658 hsa-miR-23a hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-26b
    SwitchGear 3'UTR luciferase reporter plasmidBLOC1S2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat BLOC1S2
      QuantiFast Probe-based Assays in human, mouse, rat BLOC1S2

    Additional mRNA sequence: 

    AB593084.1 AK054697.1 AK298969.1 AY278457.1 AY531265.1 BC020494.1 NR_046296.2 NR_046314.1 
    NR_046315.1 

    8 DOTS entries:

    DT.99995408  DT.116906  DT.95278815  DT.121293514  DT.121293512  DT.121293517  DT.302810  DT.91746900 

    Selected AceView cDNA sequences (see all 214):

    AW262947 AA642362 CA306531 BU627580 AI934255 BQ446997 BG111773 BU950290 
    AA845420 AI554014 BU950582 AA429512 BM786639 AI568247 AY278457 AA479909 
    AK054697 BM981531 AA748891 BM821470 BQ086221 AA366550 AI217764 NM_173809 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S2    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4
    SP1:              -     -                     
    SP2:              -                           
    SP3:                                          


    ECgene alternative splicing isoforms for BLOC1S2

    (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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    BLOC1S2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGATCAGTTT
    BLOC1S2 Expression
    About this image

    BLOC1S2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLOC1S2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.34906

    UniProtKB/Swiss-Prot: BL1S2_HUMAN, Q6QNY1
    Tissue specificity: Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at
    protein level)

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    In Situ
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    (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 BLOC1S2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bloc1s2a5
    Bloc1s21
    biogenesis of lysosome-related organelles complex-1, more5
    biogenesis of lysosomal organelles complex-1, subunit more1
    88.5(n)1
    95.07(a)1
      19 (36.72 cM)5
    736891  NM_028607.11  NP_082883.11 
     441392665 
    chicken
    (Gallus gallus)
    Aves BLOC1S21 biogenesis of lysosomal organelles complex-1, subunit more 79.91(n)
    88.65(a)
      423768  NM_001277352.1  NP_001264281.1 
    lizard
    (Anolis carolinensis)
    Reptilia BLOC1S26
    biogenesis of lysosomal organelles complex-1, subu...
    91(a)
    1 ↔ 1
    GL343388.1(38988-41911)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.103112 Transcribed sequence with weak similarity to protein more 76.94(n)    CF784287.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bloc1s21 biogenesis of lysosome-related organelles complex-1, more 73.74(n)
    81.06(a)
      606665  NM_001244756.1  NP_001231685.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta blos26
    BLOC-1 subunit 2
    35(a)
    1 ↔ 1
    3L(11054671-11055315)
    worm
    (Caenorhabditis elegans)
    Secernentea blos-26
    Y73B6BL.2896
    --
    30(a)
    30(a)
    many → 1
    many → 1
    IV(6334215-6335175) WBGene00022251
    IV(6347513-6347875) WBGene00235289


    ENSEMBL Gene Tree for BLOC1S2 (if available)
    TreeFam Gene Tree for BLOC1S2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BLOC1S2 gene

    Find genes that share paralogs with BLOC1S2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for BLOC1S2
    PGOHUM00000241353


    (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 BLOC1S2 (see all 286)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs611668181,2
    C,F--102032865(+) AAGGTG/AGTGGG 4 -- int19Minor allele frequency- A:0.30WA NA CSA EA 368
    rs784339321,2
    C,F--102032896(+) GATTAG/CTGGAC 4 -- int12Minor allele frequency- C:0.05CSA WA 120
    rs781277441,2
    C,F--102032918(+) AGAAAT/CAAGAC 4 -- int12Minor allele frequency- C:0.05CSA WA 120
    rs780300811,2
    C,F--102032948(+) TAACTA/GTAGCT 4 -- int14Minor allele frequency- G:0.12CSA WA EA 241
    rs1386527511,2
    --102032955(+) AGCTAA/CTGTTA 4 -- int10--------
    rs753149741,2
    C,F--102033025(+) AAGACA/TAGATA 4 -- int14Minor allele frequency- T:0.12WA NA EA 242
    rs784040721,2
    C--102033085(+) ATTATA/CTACAT 4 -- ut31 nc-transcript-variant0--------
    rs1884681511,2
    --102033094(+) ATGTAC/TTAAAT 4 -- ut31 nc-transcript-variant0--------
    rs1427239351,2
    --102033128(+) ATACAG/TCTATT 4 -- ut31 nc-transcript-variant0--------
    rs1913416941,2
    --102033189(+) TTTCCC/TGTAAA 4 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for BLOC1S2 (102033713 - 102046469 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BLOC1S2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1125484CNV Deletion17803354
    nsv895922CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BLOC1S2
    DNA2.0 Custom Variant and Variant Library Synthesis for BLOC1S2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609768    OMIM disorders: --


    Find genes that share disorders with BLOC1S2           About GenesLikeMe


    Export disorders for BLOC1S2 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 BLOC1S2 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with BLOC1S2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome- related organelles complex-1 (BLOC-1). (PubMed id 15102850)1, 2, 3, 9 Starcevic M. and Dell'Angelica E.C. (J. Biol. Chem. 2004)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    5. Characterization of Ceap-11 and Ceap-16, two novel splicing-variant- proteins, associated with centrosome, microtubule aggregation and cell proliferation. (PubMed id 15381421)1, 2 Wang Z.... He F. (J. Mol. Biol. 2004)
    6. Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. (PubMed id 11483580)1, 3 Yu Y....He F. (Genome Res. 2001)
    7. Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin. (PubMed id 20308062)1, 9 Monfregola J....Ursini M.V. (J. Biol. Chem. 2010)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. WASH inhibits autophagy through suppression of Beclin 1 ubiquitination. (PubMed id 23974797)1 Xia P....Fan Z. (EMBO J. 2013)
    10. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PubMed id 22203680)2 Lee H.H.... Hurley J.H. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 282991 HGNC: 20984 AceView: BLOC1S2 Ensembl:ENSG00000196072 euGenes: HUgn282991
    ECgene: BLOC1S2 H-InvDB: BLOC1S2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BLOC1S2 Pharmacogenomics, SNPs, Pathways

    (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 BLOC1S2 gene:
    Search GeneIP for patents involving BLOC1S2

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



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