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BLOC1S2

GENERAL INFORMATION

Gene name

 BLOC1S2

Gene description

 Biogenesis of lysosomal organelles complex-1, subunit 2

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression in several tissues, most abundant in CNS.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA048088 , HPA055010
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA048088
HPA055010

GENE INFORMATION

Gene name

 BLOC1S2 (HGNC Symbol)

Synonyms

 BLOS2, BORCS2, FLJ30135, MGC10120

Description

 Biogenesis of lysosomal organelles complex-1, subunit 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

 10

Cytoband

 q24.31

Chromosome location (bp)

 100273280 - 100286712

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000196072 (version 83.38)

Entrez gene

 282991

UniProt

 Q6QNY1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6QNY1

Antibodypedia

 BLOC1S2 antibodies

PROTEIN BROWSER
BLOC1S2-001
BLOC1S2-002
BLOC1S2-004
BLOC1S2-201
BLOC1S2-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BLOC1S2-001
ENSP00000410865
ENST00000441611
Q6QNY1 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0000930 [gamma-tubulin complex]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005768 [endosome]
GO:0005813 [centrosome]
GO:0007020 [microtubule nucleation]
GO:0008022 [protein C-terminus binding]
GO:0008089 [anterograde axon cargo transport]
GO:0008284 [positive regulation of cell proliferation]
GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0032438 [melanosome organization]
GO:0043015 [gamma-tubulin binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0060155 [platelet dense granule organization]
GO:0097345 [mitochondrial outer membrane permeabilization]
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 99 aa
11.5 kDa 		No 0
BLOC1S2-002
ENSP00000359398
ENST00000370372
Q6QNY1 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 2
F1T0F0 [Target identity:100%; Query identity:100%]
Biogenesis of lysosome-related organelles complex 1 subunit 2
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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0000930 [gamma-tubulin complex]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005768 [endosome]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0007020 [microtubule nucleation]
GO:0008022 [protein C-terminus binding]
GO:0008089 [anterograde axon cargo transport]
GO:0008284 [positive regulation of cell proliferation]
GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0032438 [melanosome organization]
GO:0043015 [gamma-tubulin binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0055037 [recycling endosome]
GO:0060155 [platelet dense granule organization]
GO:0097345 [mitochondrial outer membrane permeabilization]
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 142 aa
16 kDa 		No 0
BLOC1S2-004
ENSP00000464387
ENST00000579542
J3QRU7 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 117 aa
13.5 kDa 		No 0
BLOC1S2-201
ENSP00000481847
ENST00000614731
Q6QNY1 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000930 [gamma-tubulin complex]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005768 [endosome]
GO:0005813 [centrosome]
GO:0007020 [microtubule nucleation]
GO:0008022 [protein C-terminus binding]
GO:0008089 [anterograde axon cargo transport]
GO:0008284 [positive regulation of cell proliferation]
GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0032438 [melanosome organization]
GO:0043015 [gamma-tubulin binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0060155 [platelet dense granule organization]
GO:0097345 [mitochondrial outer membrane permeabilization]
Show all
 99 aa
11.5 kDa 		No 0
BLOC1S2-202
ENSP00000484340
ENST00000618916
A0A087X1N6 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 2; Biogenesis of lysosome-related organelles complex-1, subunit 2, isoform CRA_c
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 95 aa
11.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.