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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: amyotrophic lateral sclerosis 2 (juvenile)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000026024 Als2 10090 - 1:59162926-59237231 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000027178 Als2-001 59162926-59237231 protein_coding
  ENSMUST00000159166 Als2-003 59191609-59237231 retained_intron
  ENSMUST00000160945 Als2-004 59215651-59237226 protein_coding
  ENSMUST00000163058 Als2-002 59164058-59237093 protein_coding
  ENSMUST00000188469 Als2-005 59216344-59219126 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000027178ENSMUST00000159166
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000027178 4.366±0.61 1.672±0.32 3.908±0.14 8.591±1.01 3.081±0.49 1.151±0.43 1.720±0.14 6.271±0.68 9.761±4.92 3.430±0.13 4.668±0.30 3.301±1.29 10.736±3.12 3.370±0.64
ENSMUST00000159166 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.350±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00089O CIL_00089O_0002 VISTA 1:58652904-59256413
CIL_0009CR CIL_0009CR_0002 VISTA 1:59040862-59642046
CIL_00020O CIL_00020O_0002 CGP 1:59100590-59163389
CIL_0000JK CIL_0000JK_0003 CGP 1:59120935-59237231
CIL_0000JL CIL_0000JL_0003 CGP 1:59162926-59352993

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001662 IMP behavioral fear response
GO:0001726 IDA ruffle
GO:0001881 IMP receptor recycling
GO:0005085 ISS guanyl-nucleotide exchange factor activity
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005769 ISS early endosome
GO:0005813 IDA centrosome
GO:0005829 ISS cytosol
GO:0006979 IMP response to oxidative stress
GO:0007528 IMP neuromuscular junction development
GO:0007626 IMP locomotory behavior
GO:0008104 IMP protein localization
GO:0014069 IDA postsynaptic density
GO:0016050 IDA vesicle organization
GO:0016197 IMP endosomal transport
GO:0017112 ISS Rab guanyl-nucleotide exchange factor activity
GO:0017137 ISS Rab GTPase binding
GO:0030027 IDA lamellipodium
GO:0030425 ISS dendrite
GO:0030426 ISS growth cone
GO:0030676 ISS Rac guanyl-nucleotide exchange factor activity
GO:0031982 ISS vesicle
GO:0032313 IDA regulation of Rab GTPase activity
GO:0032851 ISS positive regulation of Rab GTPase activity
GO:0032855 ISS positive regulation of Rac GTPase activity
GO:0035249 IMP synaptic transmission, glutamatergic
GO:0042803 ISS protein homodimerization activity
GO:0043197 IDA dendritic spine
GO:0043234 ISS protein complex
GO:0043539 ISS protein serine/threonine kinase activator activity
GO:0045860 ISS positive regulation of protein kinase activity
GO:0048812 ISS neuron projection morphogenesis
GO:0051036 ISS regulation of endosome size
GO:0071902 IEA positive regulation of protein serine/threonine kinase activity

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000076924 als2b amyotrophic lateral sclerosis 2b (juvenile) protein_coding Danio_rerio
ENSG00000003393 ALS2 amyotrophic lateral sclerosis 2 (juvenile) protein_coding Homo_sapiens

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