BLOC1S2 - biogenesis of lysosomal organelles complex 1 subunit 2 Gene

Also Known as CEAP; BLOS2; BORCS2; CEAP11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 282991

About BLOC1S2

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,273,278-100,286,680 (from NCBI)

This gene has 6 transcripts (splice variants), 229 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 15.8), brain (RPKM 15.6) and 25 other tissues.

Summary

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]

BLOC1S2 Products (6)

mRNA Protein Name
NM_001001342.2 NP_001001342.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282436.2 NP_001269365.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 3
NM_001282437.2 NP_001269366.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282438.1 NP_001269367.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2
NM_001282439.2 NP_001269368.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 4
NM_173809.5 NP_776170.2 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables gamma-tubulin binding IDA
IDA: Inferred from direct assay
15381421 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15102850 GOA
Biological Process GO Annotation Evidence References Source
involved in extrinsic apoptotic signaling pathway via death domain receptors IDA
IDA: Inferred from direct assay
18188704 GOA
involved in lysosome localization IMP
IMP: Inferred from mutant phenotype
25898167 GOA
involved in mitochondrial outer membrane permeabilization IDA
IDA: Inferred from direct assay
18188704 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
18329849 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
15381421 GOA
Cellular Component GO Annotation Evidence References Source
part of BLOC-1 complex IDA
IDA: Inferred from direct assay
15102850 GOA
part of BLOC-1 complex IPI
IPI: Inferred from physical interaction
22203680 GOA
part of BORC complex IDA
IDA: Inferred from direct assay
25898167 GOA
part of BORC complex IPI
IPI: Inferred from physical interaction
25898167 GOA
located in centrosome IDA
IDA: Inferred from direct assay
15381421 GOA
part of gamma-tubulin complex IDA
IDA: Inferred from direct assay
15381421 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
18188704 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18329849 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BLOC1S2 Protein Structure

BLOC1_2

BLOC1_2: Biogenesis of lysosome-related organelles complex-1 subunit 2 (41 - 139)

  • 0
  • 100
  • 142 a.a.
Protein Preferred Names Protein Names

biogenesis of lysosome-related organelles complex 1 subunit 2

  • 11 kDa centrosome associated protein

BLOC1S2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BLOC1S2 Q6QNY1 FAM9B Homo sapiens Q8IZU0
Validated Y2H
25416956
Intra
BLOC1S2 Q6QNY1 FAM9B Homo sapiens Q8IZU0
Y2H Prey Pooling
25416956
Intra
BLOC1S2 Q6QNY1 CCHCR1 Homo sapiens Q8TD31-3
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 P4HA3 Homo sapiens Q7Z4N8
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 CCDC146 Homo sapiens Q8IYE0
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 TRIML2 Homo sapiens Q8N7C3
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 CTNNA3 Homo sapiens Q9UI47-2
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 KRT26 Homo sapiens Q7Z3Y9
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 SNAPIN Homo sapiens O95295
Anti Bait CoIP
15102850
Intra
BLOC1S2 Q6QNY1 SNAPIN Homo sapiens O95295
Y2H Fragment Pooling
23414517
Intra
BLOC1S2 Q6QNY1 SNAPIN Homo sapiens O95295
Pull Down
22203680
Intra
BLOC1S2 Q6QNY1 SNAPIN Homo sapiens O95295
Y2H
15102850
Intra
BLOC1S2 Q6QNY1 SNAPIN Homo sapiens O95295
GMS
22203680
Intra
BLOC1S2 Q6QNY1 BLOC1S1 Homo sapiens P78537
Anti Bait CoIP
15102850
Intra
BLOC1S2 Q6QNY1 BLOC1S5 Homo sapiens Q8TDH9
Anti Bait CoIP
15102850
Intra
BLOC1S2 Q6QNY1 BLOC1S5 Homo sapiens Q8TDH9
Y2H
15102850
Intra
BLOC1S2 Q6QNY1 BLOC1S3 Homo sapiens Q6QNY0
Y2H
15102850
Intra
BLOC1S2 Q6QNY1 BLOC1S3 Homo sapiens Q6QNY0
Anti Bait CoIP
15102850
Intra
BLOC1S2 Q6QNY1 WASHC3 Homo sapiens Q9Y3C0
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 FAM161B Homo sapiens Q96MY7
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 IFT57 Homo sapiens Q9NWB7
Anti Tag CoIP
18188704
Intra
BLOC1S2 Q6QNY1 EXOC8 Homo sapiens Q8IYI6
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 SH2D4A Homo sapiens Q9H788
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 PICK1 Homo sapiens Q9NRD5
Validated Y2H
32296183
Intra
BLOC1S2 Q6QNY1 ERP27 Homo sapiens Q96DN0
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BLOC1S2 Proteins

Cat. No. Product Name Accession Purity
HY-P76171 BLOC1S2 Protein, Human Q6QNY1-2 (M1-R99) ≥ 95%, as determined by Bis-Tris PAGE.

Related Diseases

Diseases Alias
Hermansky-Pudlak Syndrome

  • Hps

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • Hermanski-Pudlak Syndrome

  • Hermansky Pudlak Syndrome

  • Platelet Storage Pool Deficiency
Schizophrenia 1

  • SCZD1

  • Schizophrenia Susceptibility Locus, Chromosome 5-Related

  • Schizophrenia 1 With Or Without An Affective Disorder
Primary Autosomal Recessive Microcephaly

  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01524 BLOC1S2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19834 Bloc1s2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26331 Bloc1s2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus BLOC1S2 RGD RGD:1306551
Canis familiaris BLOC1S2 VGNC VGNC:38467
Bos taurus BLOC1S2 VGNC VGNC:26507
Macaca mulatta BLOC1S2 VGNC VGNC:70357
Mus musculus BLOC1S2 MGD MGI:1920939
Others BLOC1S2 NCBI