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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: GM2 ganglioside activator
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000196743 GM2A 9606 + 5:151212150-151270440 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000357164 GM2A-001 151252892-151270440 protein_coding
  ENST00000523004 GM2A-002 151259799-151267255 protein_coding
  ENST00000523466 GM2A-004 151212150-151266880 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000357164
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000357164 6.806±0.00 6.955±0.00 2.672±1.79 10.980±8.26 3.610±0.00 4.018±2.93 2.429±1.12 4.337±0.00 8.819±4.52 1.609±0.52 6.043±1.88 42.800±14.20 3.917±1.42

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0001KQ CIL_0001KQ_0001 CGP 5:151100712-151224145
CIL_00024Q CIL_00024Q_0001 CGP 5:151181052-151270440
CIL_0001KO CIL_0001KO_0001 CGP 5:151212150-151303766

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001573 IEA ganglioside metabolic process
GO:0004563 IEA beta-N-acetylhexosaminidase activity
GO:0005319 IEA lipid transporter activity
GO:0005737 IEA cytoplasm
GO:0005739 IEA mitochondrion
GO:0005764 IEA lysosome
GO:0005889 IEA hydrogen:potassium-exchanging ATPase complex
GO:0006665 TAS sphingolipid metabolic process
GO:0006687 TAS glycosphingolipid metabolic process
GO:0006689 IEA ganglioside catabolic process
GO:0006869 IEA lipid transport
GO:0007611 IEA learning or memory
GO:0008047 IEA enzyme activator activity
GO:0009313 IEA oligosaccharide catabolic process
GO:0009898 IEA cytoplasmic side of plasma membrane
GO:0016004 IEA phospholipase activator activity
GO:0019915 IEA lipid storage
GO:0032428 IEA beta-N-acetylgalactosaminidase activity
GO:0043085 IEA positive regulation of catalytic activity
GO:0043202 TAS lysosomal lumen
GO:0044281 TAS small molecule metabolic process
GO:0045179 IEA apical cortex
GO:0050877 IEA neurological system process
GO:0050885 IEA neuromuscular process controlling balance
GO:0051345 IEA positive regulation of hydrolase activity
GO:0070062 IDA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000088439 gm2a GM2 ganglioside activator protein_coding Danio_rerio
ENSDARG00000089498 GM2A (2 of 2) GM2 ganglioside activator protein_coding Danio_rerio
ENSMUSG00000000594 Gm2a GM2 ganglioside activator protein protein_coding Mus_musculus

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