• Gene id: 282991

Gene Summary

• Gene Symbol: BLOC1S2   Gene   UCSC   Ensembl
• Aliases: BLOS2, BORCS2, CEAP, CEAP11
• Gene name: biogenesis of lysosomal organelles complex 1 subunit 2
• Alternate names: biogenesis of lysosome-related organelles complex 1 subunit 2, 11 kDa centrosome associated protein, BLOC-1 subunit 2, centrosomal 10 kDa protein, centrosome protein oncogene,
• Gene location: 10q24.31 (100286711: 100273277)     Exons: 7     NC_000010.11
• Gene summary(Entrez): 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 form
• OMIM: 609768

Protein Summary

• Protein general information: Q6QNY1  
  • Name: Biogenesis of lysosome related organelles complex 1 subunit 2 (BLOC 1 subunit 2) (Centrosome associated protein)
  • Length: 142  
  • Mass: 15961
  • Tissue specificity: Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level). {ECO
• Sequence:

  MAAAAEGVLATRSDEPARDDAAVETAEEAKEPAEADITELCRDMFSKMATYLTGELTATSEDYKLLENMNKLTSL
  KYLEMKDIAINISRNLKDLNQKYAGLQPYLDQINVIEEQVAALEQAAYKLDAYSKKLEAKYKKLEKR

• Structural information:
  • Interpro: IPR019269  
  • STRING: ENSP00000359398
• Other Databases: GeneCards:  BLOC1S2  Malacards:  BLOC1S2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000930	gamma-tubulin complex	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0043015	gamma-tubulin binding	IBA	molecular function
GO:0031083	BLOC-1 complex	IBA	cellular component
GO:0032418	lysosome localization	IBA	biological process
GO:0099078	BORC complex	IBA	cellular component
GO:0099078	BORC complex	IDA	cellular component
GO:0031175	neuron projection development	ISS	biological process
GO:0032418	lysosome localization	IMP	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0031083	BLOC-1 complex	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0097345	mitochondrial outer membrane permeabilization	IDA	biological process
GO:0043015	gamma-tubulin binding	IDA	molecular function
GO:0000930	gamma-tubulin complex	IDA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0032438	melanosome organization	NAS	biological process
GO:0032438	melanosome organization	NAS	biological process
GO:0060155	platelet dense granule organization	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881