Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BLOC1S2 Gene

Aliases for BLOC1S2 Gene

  • Biogenesis Of Lysosomal Organelles Complex 1 Subunit 2 2 3 5
  • BLOC-1 Subunit 2 2 3 4
  • Centrosome Protein Oncogene 2 3
  • BLOS2 3 4
  • 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
  • BORCS2 3
  • CEAP11 3

External Ids for BLOC1S2 Gene

Previous GeneCards Identifiers for BLOC1S2 Gene

  • GC10M101699
  • GC10M102023
  • GC10M095662

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 Vein Disease and Taylor's 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 (PubMed:15102850, PubMed:17182842). 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 (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421).

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

Regulatory Elements for BLOC1S2 Gene

Enhancers for BLOC1S2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F100178 1 FANTOM5 ENCODE 38.6 +103.5 103541 8.7 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 BLOC1S2 CWF19L1 EBAG9P1 ERLIN1 ENSG00000236308 ENSG00000272572 CHUK DNMBP SPCS2P2
GH10F100283 1 Ensembl ENCODE 37 +0.6 602 6.2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ZNF263 BLOC1S2 CWF19L1 RNU6-422P ERLIN1
GH10F100266 0.5 ENCODE 36.6 +19.2 19177 1.8 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 SP3 CWF19L1 BLOC1S2 ENSG00000272572 RNU6-422P
GH10F100256 1 Ensembl ENCODE 36.5 +29.7 29700 0.8 NFE2 BLOC1S2 GC10P100259 PHBP9
GH10F100228 0.5 ENCODE 36.4 +57.2 57220 1.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 BLOC1S2 ENSG00000272572 CHUK ENSG00000236308
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BLOC1S2 on UCSC Golden Path with GeneCards custom track

Promoters for BLOC1S2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117180 512 1601 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 FOS

Genomic Location for BLOC1S2 Gene

Chromosome:
10
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

Genes around BLOC1S2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLOC1S2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLOC1S2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    • 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. Interacts directly with BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN (PubMed:15102850, PubMed:22203680). The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos (By similarity). Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN (PubMed:25898167). Interacts with gamma-tubulin (PubMed:15381421). Interacts with IFT57 (By similarity).
    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

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 & Families for BLOC1S2 Gene

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 :
  • Belongs to the BLOC1S2 family.
Family:
  • Belongs to the BLOC1S2 family.
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 (PubMed:15102850, PubMed:17182842). 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 (By similarity). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421).

Gene Ontology (GO) - Molecular Function for BLOC1S2 Gene

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

Animal Models for BLOC1S2 Gene

MGI Knock Outs for BLOC1S2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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. Lysosome membrane. Note=Localizes to the centrosomes in a microtubule-dependent manner. {ECO:0000269 PubMed:15381421}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BLOC1S2 Gene COMPARTMENTS Subcellular localization image for BLOC1S2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 5
nucleus 5
endosome 2
vacuole 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:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 18188704
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
genes like me logo Genes that share ontologies with BLOC1S2: view

Pathways & Interactions 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:0008089 anterograde axonal transport ISS --
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IDA 18188704
GO:0031175 neuron projection development ISS --
GO:0032418 lysosome localization IMP 25898167
GO:0032438 melanosome organization NAS 15102850
genes like me logo Genes that share ontologies with BLOC1S2: view

No data available for Pathways by source and SIGNOR curated interactions for BLOC1S2 Gene

Transcripts for BLOC1S2 Gene

Unigene Clusters for BLOC1S2 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for BLOC1S2 Gene

This gene is overexpressed in Fetal Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BLOC1S2 Gene



Protein tissue co-expression partners for BLOC1S2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BLOC1S2 Gene:

BLOC1S2

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 expression patterns with BLOC1S2: view

Primer Products

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 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC612865 34
  • 94.16 (n)
BLOC1S2 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC519172 34
  • 92.21 (n)
BLOC1S2 35
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bloc1s2 34
  • 89.91 (n)
mouse
(Mus musculus)
Mammalia Bloc1s2 34 16 35
  • 88.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BLOC1S2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves BLOC1S2 34 35
  • 79.91 (n)
lizard
(Anolis carolinensis)
Reptilia BLOC1S2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s2 34
  • 75.4 (n)
Str.10311 34
zebrafish
(Danio rerio)
Actinopterygii bloc1s2 34 35
  • 73.74 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2172 34
fruit fly
(Drosophila melanogaster)
Insecta blos2 35
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea blos-2 35
  • 30 (a)
OneToMany
Y73B6BL.289 35
  • 30 (a)
OneToMany
Species where no ortholog for BLOC1S2 was found in the sources mined by GeneCards:
  • 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
rs10692467 -- 100,274,305(+) TTTTC(-/AA)AGAGG utr-variant-3-prime
rs111396533 -- 100,286,620(+) CTCAT(C/G)ACTCC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs111656207 -- 100,288,349(+) CAGCC(C/T)CTTGC upstream-variant-2KB, utr-variant-3-prime
rs111670534 -- 100,280,999(+) GATAC(C/T)TCAAG reference, missense
rs111693555 -- 100,280,831(+) ACAAG(C/T)TCCCA intron-variant

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

Variant ID Type Subtype PubMed ID
esv1125484 CNV deletion 17803354
esv2761622 CNV loss 21179565
nsv1043825 CNV loss 25217958

Variation tolerance for BLOC1S2 Gene

Residual Variation Intolerance Score: 47.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.06; 60.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BLOC1S2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLOC1S2

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

Disorders for BLOC1S2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BLOC1S2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
vein disease
  • disorder of vein
taylor's syndrome
  • congestion-fibrosis syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BLOC1S2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BLOC1S2
genes like me logo Genes that share disorders with BLOC1S2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J. … Bonifacino J.S. (Dev. Cell 2015) 3 4 64
  3. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee H.H. … Hurley J.H. (J. Biol. Chem. 2012) 3 4 64
  4. 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 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for BLOC1S2 Gene

Sources for BLOC1S2 Gene

Content
Loading form....