BLOC1S2 - biogenesis of lysosomal organelles complex 1 subunit 2 Gene

Homo sapiens

Also known as CEAP; BLOS2; BORCS2; CEAP11

Gene ID: 282991 | Gene type: protein coding

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

BLOC1S2 Protein Structure

BLOC1_2

0
100
142 a.a.

Protein Preferred Names

Protein Names

biogenesis of lysosome-related organelles complex 1 subunit 2

11 kDa centrosome associated protein

Recombinant BLOC1S2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76171	BLOC1S2 Protein, Human (GST)	Q6QNY1-2 (M1-R99)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01524	BLOC1S2 Human Pre-designed siRNA Set A		/	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

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