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
ENSG00000003393 ALS2 9606 - 2:201700554-201781189 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000264276 ALS2-001 201700554-201781189 protein_coding
  ENST00000409632 ALS2-009 201761576-201780922 protein_coding
  ENST00000410052 ALS2-006 201761675-201780951 protein_coding
  ENST00000439495 ALS2-005 201701687-201744388 nonsense_mediated_decay
  ENST00000462747 ALS2-008 201765383-201780911 processed_transcript
  ENST00000467448 ALS2-002 201759457-201780956 protein_coding
  ENST00000482789 ALS2-003 201741184-201780956 retained_intron
  ENST00000482891 ALS2-004 201721990-201780956 retained_intron
  ENST00000483703 ALS2-010 201728618-201738724 processed_transcript
  ENST00000489440 ALS2-012 201716642-201726552 processed_transcript
  ENST00000494017 ALS2-011 201726836-201733453 processed_transcript
  ENST00000496244 ALS2-007 201761403-201780956 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000264276ENST00000439495ENST00000467448ENST00000482789ENST00000482891
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000264276 1.857±0.00 0.545±0.00 0.917±0.00 3.571±0.55 1.391±0.00 1.535±0.36 3.869±1.81 2.477±0.00 1.423±1.00 1.536±0.09 1.231±0.88 1.849±0.75 1.329±0.35 2.670±0.62
ENST00000439495 N/A N/A N/A N/A 1.043±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000467448 1.300±0.00 1.710±0.00 0.887±0.00 2.316±0.00 1.135±0.16 1.405±0.00 N/A N/A 1.765±0.29 1.356±0.00 N/A 1.057±0.08 0.953±0.29 1.952±0.61
ENST00000482789 N/A N/A N/A N/A 1.132±0.00 N/A 1.355±0.00 N/A N/A 1.522±0.00 N/A N/A N/A N/A
ENST00000482891 N/A N/A N/A N/A N/A N/A N/A 1.189±0.00 N/A N/A N/A 1.102±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00089O CIL_00089O_0001 VISTA 2:201132231-201734391
CIL_0009CR CIL_0009CR_0001 VISTA 2:201587932-202188948
CIL_0000JK CIL_0000JK_0002 CGP 2:201644870-201781189
CIL_0000JL CIL_0000JL_0002 CGP 2:201700554-201895550

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001662 IEA behavioral fear response
GO:0001726 ISS ruffle
GO:0001881 IEA receptor recycling
GO:0005085 IDA guanyl-nucleotide exchange factor activity
GO:0005087 NAS Ran guanyl-nucleotide exchange factor activity
GO:0005089 IEA Rho guanyl-nucleotide exchange factor activity
GO:0005515 IPI protein binding
GO:0005737 IEA cytoplasm
GO:0005769 IDA early endosome
GO:0005813 IDA centrosome
GO:0005829 IDA cytosol
GO:0006979 IEA response to oxidative stress
GO:0007032 NAS endosome organization
GO:0007528 IEA neuromuscular junction development
GO:0007626 IEA locomotory behavior
GO:0008104 IEA protein localization
GO:0008219 IEA cell death
GO:0014069 IEA postsynaptic density
GO:0016050 IEA vesicle organization
GO:0016197 IEA endosomal transport
GO:0017112 IDA Rab guanyl-nucleotide exchange factor activity
GO:0017137 IDA Rab GTPase binding
GO:0030027 ISS lamellipodium
GO:0030425 IDA dendrite
GO:0030426 ISS growth cone
GO:0030676 IDA Rac guanyl-nucleotide exchange factor activity
GO:0031982 IDA vesicle
GO:0032313 IEA regulation of Rab GTPase activity
GO:0032851 IDA positive regulation of Rab GTPase activity
GO:0032853 NAS positive regulation of Ran GTPase activity
GO:0032855 IDA positive regulation of Rac GTPase activity
GO:0035022 IC positive regulation of Rac protein signal transduction
GO:0035023 IEA regulation of Rho protein signal transduction
GO:0035249 IEA synaptic transmission, glutamatergic
GO:0042803 IPI protein homodimerization activity
GO:0043197 IEA dendritic spine
GO:0043234 IDA protein complex
GO:0043539 IDA protein serine/threonine kinase activator activity
GO:0045860 IDA positive regulation of protein kinase activity
GO:0048812 IDA neuron projection morphogenesis
GO:0051036 IEP regulation of endosome size
GO:0071902 IDA 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
ENSMUSG00000026024 Als2 amyotrophic lateral sclerosis 2 (juvenile) protein_coding Mus_musculus

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