C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: biogenesis of lysosomal organelles complex-1, subunit 2
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000196072 BLOC1S2 9606 - 10:100273280-100286712 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000361832 BLOC1S2-003 100280934-100286673 processed_transcript
  ENST00000370372 BLOC1S2-002 100274695-100286712 protein_coding
  ENST00000441611 BLOC1S2-001 100273956-100286357 protein_coding
  ENST00000579542 BLOC1S2-004 100280041-100286148 protein_coding
  ENST00000614731 BLOC1S2-201 100273280-100286378 protein_coding
  ENST00000618916 BLOC1S2-202 100273280-100282936 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000370372ENST00000441611ENST00000579542ENST00000618916
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000370372 10.299±0.00 11.724±0.00 0.712±0.00 8.510±1.04 7.092±4.01 2.436±0.96 3.357±2.25 5.974±4.49 4.531±2.49 5.055±1.64 5.346±4.93 24.262±13.30 9.653±0.25 11.309±1.69
ENST00000441611 N/A N/A N/A 1.801±0.00 N/A 0.389±0.00 0.158±0.00 N/A N/A 1.116±0.00 1.014±0.00 0.911±0.00 N/A N/A
ENST00000579542 N/A N/A N/A N/A 3.589±0.00 5.329±0.00 N/A 4.487±0.00 N/A N/A N/A 40.315±24.50 16.199±0.00 16.151±0.00
ENST00000618916 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.686±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007QB CIL_0007QB_0001 VISTA 10:100185085-100786577
CIL_0005DX CIL_0005DX_0001 CGP 10:100232298-100286712
CIL_0005E2 CIL_0005E2_0001 CGP 10:100273280-100330486

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000930 IDA gamma-tubulin complex
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005737 IEA cytoplasm
GO:0005739 IDA mitochondrion
GO:0005813 IDA centrosome
GO:0005829 IEA cytosol
GO:0007020 NAS microtubule nucleation
GO:0008022 IPI protein C-terminus binding
GO:0008089 ISS anterograde axon cargo transport
GO:0008284 IDA positive regulation of cell proliferation
GO:0008625 IDA extrinsic apoptotic signaling pathway via death domain receptors
GO:0031083 IDA BLOC-1 complex
GO:0031175 ISS neuron projection development
GO:0032438 NAS melanosome organization
GO:0043015 IDA gamma-tubulin binding
GO:0045893 IDA positive regulation of transcription, DNA-templated
GO:0045944 IBA positive regulation of transcription from RNA polymerase II promoter
GO:0048490 ISS anterograde synaptic vesicle transport
GO:0055037 IEA recycling endosome
GO:0060155 NAS platelet dense granule organization
GO:0097345 IDA mitochondrial outer membrane permeabilization

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000046081 bloc1s2 biogenesis of lysosome-related organelles complex-1, subunit 2 protein_coding Danio_rerio
ENSMUSG00000057506 Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 protein_coding Mus_musculus

Loading