ENSMUSG00000057506


Mus musculus

Features
Gene ID: ENSMUSG00000057506
  
Biological name :Bloc1s2
  
Synonyms : Biosis of lysosome-related organelles complex 1 subunit 2 / Bloc1s2 / Q9CWG9
  
Possible biological names infered from orthology : biogenesis of lysosomal organelles complex 1 subunit 2 / Q6QNY1
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: C3
Gene start: 44139266
Gene end: 44146446
  
Corresponding Affymetrix probe sets: 10467956 (MoGene1.0st)   10472095 (MoGene1.0st)   1429048_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000078042
NCBI entrez gene - 73689     See in Manteia.
MGI - MGI:1920939
RefSeq - NM_028607
RefSeq - XM_011247369
RefSeq Peptide - NP_082883
swissprot - Q9CWG9
Ensembl - ENSMUSG00000057506
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bloc1s2ENSDARG00000046081Danio rerio
 BLOC1S2ENSGALG00000005794Gallus gallus
 Q6QNY1ENSG00000196072Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR019269  Biogenesis of lysosome-related organelles complex-1, subunit 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008089 anterograde axonal transport IMP
 biological_processGO:0008284 positive regulation of cell proliferation ISO
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IEA
 biological_processGO:0031175 neuron projection development NAS
 biological_processGO:0032418 lysosome localization IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISO
 biological_processGO:0048490 anterograde synaptic vesicle transport IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0097345 mitochondrial outer membrane permeabilization IEA
 cellular_componentGO:0000930 gamma-tubulin complex IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005813 centrosome ISO
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031083 BLOC-1 complex IEA
 cellular_componentGO:0099078 BORC complex IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0008022 protein C-terminus binding ISO
 molecular_functionGO:0016491 oxidoreductase activity IBA
 molecular_functionGO:0043015 gamma-tubulin binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000288 abnormal pericardium morphology "malformation of the fibroserous membrane covering the heart and beginning of the great vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:54408]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0000603 pale liver "liver lacking normal coloration, often refers to bloodless condition" [J:18048]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0000790 abnormal stratification in cerebral cortex "abnormal formation or pattern of the layers of the cerebral cortex " [J:64289, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0001606 impaired hematopoiesis "atypical process of blood cell formation with the result of fewer of these cells being formed" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0003172 abnormal lysosome physiology "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0003241 loss of cortex neurons "loss of neurons in the cortex region of the brain, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0004808 abnormal hematopoietic stem cell morphology "any structural anomaly of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0004809 increased hematopoietic stem cell number "greater cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0005650 abnormal limb bud morphology "aberrant structure or development of any of the swellings on the trunk of the embryo that become limbs" [hdene:Howard Dene , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:61460]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0008441 thin cortical plate "reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:1812236]
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Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0008457 abnormal cortical intermediate zone morphology "any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone" [PMID:10632599]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0008480 absent eye pigmentation "absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0008546 abnormal vesicle-mediated transport "anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell" [GO:0016192]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0011827 impaired neuron differentiation "decreased production of or inability to produce the mature cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0011902 increased hematopoietic stem cell proliferation "increase in the expansion rate of a hematopoietic stem cell population by cell division" [MGI:csmith]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013294 prenatal lethality prior to heart atrial septation "death prior to the completion of heart atrial septation (Mus: E14.5-15.5)" [MGI:smb]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

 MP:0013697 decreased granulocyte monocyte progenitor cell number "reduction in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1" [CL:0000557, PMID:16551251]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0020389 increased radial glial cell number "increase in the number of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [MGI:anna, PMID:25100583]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0020393 increased neuronal precursor proliferation "increase in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:anna]
Show

Allelic Composition: Bloc1s2tm1Wli/Bloc1s2tm1Wli
Genetic Background: involves: 129 * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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