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Aliases for BLOC1S2 Gene

Aliases for BLOC1S2 Gene

  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 2 2 3
  • BLOC-1 Subunit 2 2 3 4
  • BLOS2 3 4 6
  • Centrosome Protein Oncogene 2 3
  • CEAP 3 4
  • Biogenesis Of Lysosome-Related Organelles Complex-1 Subunit 2 2
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 2 3
  • 11 KDa Centrosome Associated Protein 3
  • Centrosome-Associated Protein 4
  • Centrosomal 10 KDa Protein 3
  • CEAP11 3

External Ids for BLOC1S2 Gene

Summaries for BLOC1S2 Gene

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. Diseases associated with BLOC1S2 include hermansky-pudlak syndrome. GO annotations related to this gene include protein C-terminus binding and gamma-tubulin binding.

UniProtKB/Swiss-Prot for BLOC1S2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S2 Gene

Genomics for BLOC1S2 Gene

Genomic Location for BLOC1S2 Gene

Start:
100,273,278 bp from pter
End:
100,286,712 bp from pter
Size:
13,435 bases
Orientation:
Minus strand

Genomic View for BLOC1S2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BLOC1S2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S2 Gene

Regulatory Elements for BLOC1S2 Gene

Proteins for BLOC1S2 Gene

  • Protein details for BLOC1S2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6QNY1-BL1S2_HUMAN
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 2
    Protein Accession:
    Q6QNY1
    Secondary Accessions:
    • B4DQV2
    • Q5W040
    • Q8WUI8

    Protein attributes for BLOC1S2 Gene

    Size:
    142 amino acids
    Molecular mass:
    15961 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH20494.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH72396.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH72821.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BLOC1S2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BLOC1S2 Gene

Proteomics data for BLOC1S2 Gene at MOPED

Post-translational modifications for BLOC1S2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BLOC1S2 Gene

Domains for BLOC1S2 Gene

Gene Families for BLOC1S2 Gene

HGNC:
  • BLOC1S :Biogenesis of lysosomal organelles complex-1 subunits

Protein Domains for BLOC1S2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLOC1S2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6QNY1

UniProtKB/Swiss-Prot:

BL1S2_HUMAN
Family:
  • Belongs to the BLOC1S2 family.:
    • Q6QNY1
genes like me logo Genes that share domains with BLOC1S2: view

Function for BLOC1S2 Gene

Molecular function for BLOC1S2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for BLOC1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15102850
GO:0008022 protein C-terminus binding IPI 18329849
GO:0043015 gamma-tubulin binding IDA 15381421
genes like me logo Genes that share ontologies with BLOC1S2: view

Phenotypes for BLOC1S2 Gene

GenomeRNAi human phenotypes for BLOC1S2:
genes like me logo Genes that share phenotypes with BLOC1S2: view

miRNA for BLOC1S2 Gene

miRTarBase miRNAs that target BLOC1S2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BLOC1S2 Gene

Localization for BLOC1S2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S2 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes to the centrosomes in a microtubule-dependent manner.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BLOC1S2 Gene COMPARTMENTS Subcellular localization image for BLOC1S2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
endosome 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BLOC1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000930 gamma-tubulin complex IDA 15381421
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA 18188704
GO:0005813 centrosome IEA --
genes like me logo Genes that share ontologies with BLOC1S2: view

Pathways for BLOC1S2 Gene

SuperPathways for BLOC1S2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BLOC1S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007020 microtubule nucleation NAS 15381421
GO:0008089 anterograde axon cargo transport ISS --
GO:0008284 positive regulation of cell proliferation IDA 15381421
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IDA 18188704
GO:0031175 neuron projection development ISS --
genes like me logo Genes that share ontologies with BLOC1S2: view

No data available for Pathways by source for BLOC1S2 Gene

Transcripts for BLOC1S2 Gene

Unigene Clusters for BLOC1S2 Gene

Biogenesis of lysosomal organelles complex-1, subunit 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S2 Gene

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

Relevant External Links for BLOC1S2 Gene

GeneLoc Exon Structure for
BLOC1S2
ECgene alternative splicing isoforms for
BLOC1S2

Expression for BLOC1S2 Gene

mRNA expression in normal human tissues for BLOC1S2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BLOC1S2 Gene

SOURCE GeneReport for Unigene cluster for BLOC1S2 Gene Hs.34906

mRNA Expression by UniProt/SwissProt for BLOC1S2 Gene

Q6QNY1-BL1S2_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level).
genes like me logo Genes that share expressions with BLOC1S2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BLOC1S2 Gene

Orthologs for BLOC1S2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BLOC1S2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLOC1S2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BLOC1S2 36
  • 80 (a)
OneToOne
LOC519172 35
  • 92.21 (n)
  • 93.43 (a)
dog
(Canis familiaris)
Mammalia BLOC1S2 36
  • 94 (a)
OneToOne
LOC612865 35
  • 94.16 (n)
  • 95.62 (a)
mouse
(Mus musculus)
Mammalia Bloc1s2 35
  • 88.5 (n)
  • 95.07 (a)
Bloc1s2 36
  • 94 (a)
OneToOne
Bloc1s2a 16
platypus
(Ornithorhynchus anatinus)
Mammalia BLOC1S2 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bloc1s2 35
  • 89.91 (n)
  • 96.48 (a)
chicken
(Gallus gallus)
Aves BLOC1S2 35
  • 79.91 (n)
  • 88.65 (a)
BLOC1S2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLOC1S2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s2 35
  • 75.4 (n)
  • 85.71 (a)
Str.10311 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2172 35
zebrafish
(Danio rerio)
Actinopterygii bloc1s2 35
  • 73.74 (n)
  • 81.06 (a)
bloc1s2 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta blos2 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea blos-2 36
  • 30 (a)
OneToMany
Y73B6BL.289 36
  • 30 (a)
OneToMany
Species with no ortholog for BLOC1S2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BLOC1S2 Gene

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

Paralogs for BLOC1S2 Gene

Pseudogenes.org Pseudogenes for BLOC1S2 Gene

genes like me logo Genes that share paralogs with BLOC1S2: view

No data available for Paralogs for BLOC1S2 Gene

Variants for BLOC1S2 Gene

Sequence variations from dbSNP and Humsavar for BLOC1S2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs12538 -- 100,274,728(+) ATGAG(C/T)GGCAA utr-variant-3-prime
rs184013 -- 100,279,560(-) agacg(A/G)ggttt intron-variant
rs283743 -- 100,279,515(-) cctcg(C/T)gatcc intron-variant
rs662398 -- 100,281,693(-) TATAt(A/T)ttttt intron-variant
rs678558 -- 100,286,989(-) GGCAA(C/T)CCGTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BLOC1S2 Gene

Variant ID Type Subtype PubMed ID
nsv895922 CNV Loss 21882294
esv1125484 CNV Deletion 17803354

Relevant External Links for BLOC1S2 Gene

HapMap Linkage Disequilibrium report
BLOC1S2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLOC1S2 Gene

Disorders for BLOC1S2 Gene

(1) MalaCards Diseases for BLOC1S2 Gene

Search for BLOC1S2 Gene in MalaCards »
genes like me logo Genes that share disorders with BLOC1S2: view

No data available for UniProtKB/Swiss-Prot for BLOC1S2 Gene

Publications for BLOC1S2 Gene

  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). (PMID: 15102850) Starcevic M. … Dell'Angelica E.C. (J. Biol. Chem. 2004) 2 3 4 23
  2. 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. (PMID: 20308062) Monfregola J. … Ursini M.V. (J. Biol. Chem. 2010) 3 23
  3. 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. (PMID: 11483580) Yu Y. … He F. (Genome Res. 2001) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4

Products for BLOC1S2 Gene

Sources for BLOC1S2 Gene

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