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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: presenilin 2
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000143801 PSEN2 9606 + 1:226870184-226896102 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000366782 PSEN2-002 226871268-226896098 protein_coding
  ENST00000366783 PSEN2-001 226870563-226896102 protein_coding
  ENST00000422240 PSEN2-007 226870620-226895803 protein_coding
  ENST00000460775 PSEN2-005 226871264-226891344 protein_coding
  ENST00000471728 PSEN2-009 226890819-226895544 processed_transcript
  ENST00000472139 PSEN2-006 226884623-226895691 protein_coding
  ENST00000487450 PSEN2-008 226890566-226891820 processed_transcript
  ENST00000495488 PSEN2-004 226870616-226885568 protein_coding
  ENST00000521431 PSEN2-011 226870863-226875552 retained_intron
  ENST00000524196 PSEN2-010 226870184-226881970 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000366782ENST00000366783ENST00000422240ENST00000460775ENST00000472139ENST00000487450ENST00000495488
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000366782 N/A N/A N/A N/A N/A N/A N/A N/A 0.767±0.00 N/A N/A N/A N/A N/A
ENST00000366783 N/A 12.065±0.00 N/A 5.643±0.00 1.111±0.66 2.176±0.00 2.937±0.00 4.610±3.04 2.865±0.00 1.689±0.00 3.273±0.07 6.531±3.56 8.570±4.55 7.448±4.84
ENST00000422240 0.607±0.00 N/A 1.429±0.00 0.792±0.00 N/A N/A 0.590±0.00 N/A 1.388±0.00 N/A N/A 1.624±0.00 N/A N/A
ENST00000460775 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 2.621±0.00 N/A N/A N/A
ENST00000472139 N/A N/A N/A 4.912±0.00 1.173±0.00 1.129±0.00 N/A N/A N/A 1.052±0.00 N/A 4.428±0.00 N/A N/A
ENST00000487450 N/A N/A N/A N/A N/A N/A N/A N/A 1.556±0.00 N/A N/A N/A N/A N/A
ENST00000495488 N/A N/A N/A N/A 2.947±0.00 3.210±0.47 1.069±0.00 2.943±0.00 1.217±0.00 4.421±0.00 N/A N/A 6.234±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008CY CIL_0008CY_0001 VISTA 1:226526998-227129223
CIL_000985 CIL_000985_0001 VISTA 1:226618699-227222072

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000139 IEA Golgi membrane
GO:0000776 IDA kinetochore
GO:0001666 IEA response to hypoxia
GO:0001708 IEA cell fate specification
GO:0001756 IEA somitogenesis
GO:0001933 IEA negative regulation of protein phosphorylation
GO:0001942 IEA hair follicle development
GO:0002244 IEA hematopoietic progenitor cell differentiation
GO:0002286 IEA T cell activation involved in immune response
GO:0002573 IEA myeloid leukocyte differentiation
GO:0004175 IBA endopeptidase activity
GO:0004190 IEA aspartic-type endopeptidase activity
GO:0005515 IPI protein binding
GO:0005637 IDA nuclear inner membrane
GO:0005743 IBA mitochondrial inner membrane
GO:0005765 IBA lysosomal membrane
GO:0005783 IDA endoplasmic reticulum
GO:0005789 IEA endoplasmic reticulum membrane
GO:0005794 IDA Golgi apparatus
GO:0005813 IDA centrosome
GO:0005829 IEA cytosol
GO:0005886 TAS plasma membrane
GO:0005887 IDA integral component of plasma membrane
GO:0005938 IBA cell cortex
GO:0006508 IEA proteolysis
GO:0006509 IDA membrane protein ectodomain proteolysis
GO:0006816 IBA calcium ion transport
GO:0007176 IEA regulation of epidermal growth factor-activated receptor activity
GO:0007219 IEA:TAS Notch signaling pathway
GO:0007220 IBA Notch receptor processing
GO:0007611 IEA learning or memory
GO:0007613 IEA memory
GO:0009986 IBA cell surface
GO:0015031 IEA protein transport
GO:0016020 IDA membrane
GO:0016021 IEA integral component of membrane
GO:0016324 IBA apical plasma membrane
GO:0016485 IDA protein processing
GO:0021904 IEA dorsal/ventral neural tube patterning
GO:0030018 IBA Z disc
GO:0030326 IEA embryonic limb morphogenesis
GO:0030424 IBA axon
GO:0030426 IBA growth cone
GO:0030900 IEA forebrain development
GO:0031293 TAS membrane protein intracellular domain proteolysis
GO:0031333 IEA negative regulation of protein complex assembly
GO:0031594 IBA neuromuscular junction
GO:0032091 IEA negative regulation of protein binding
GO:0032469 IEA endoplasmic reticulum calcium ion homeostasis
GO:0035253 IBA ciliary rootlet
GO:0035556 IEA intracellular signal transduction
GO:0036064 IEA ciliary basal body
GO:0040011 IEA locomotion
GO:0042987 IBA amyloid precursor protein catabolic process
GO:0043025 IBA neuronal cell body
GO:0043065 TAS positive regulation of apoptotic process
GO:0043066 IBA negative regulation of apoptotic process
GO:0043085 IDA positive regulation of catalytic activity
GO:0043198 IBA dendritic shaft
GO:0043234 IDA protein complex
GO:0043393 IEA regulation of protein binding
GO:0044267 IEA cellular protein metabolic process
GO:0045121 IBA membrane raft
GO:0048011 TAS neurotrophin TRK receptor signaling pathway
GO:0048167 IEA regulation of synaptic plasticity
GO:0048286 IEA lung alveolus development
GO:0048471 IBA perinuclear region of cytoplasm
GO:0048538 IEA thymus development
GO:0048854 IEA brain morphogenesis
GO:0050435 IBA beta-amyloid metabolic process
GO:0050820 IEA positive regulation of coagulation
GO:0050852 IEA T cell receptor signaling pathway
GO:0051604 IEA protein maturation
GO:0060048 IEA cardiac muscle contraction
GO:0097190 TAS apoptotic signaling pathway
GO:1902042 IEA negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902043 IEA positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001234 IEA negative regulation of apoptotic signaling pathway

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000015540 psen2 presenilin 2 protein_coding Danio_rerio
ENSMUSG00000010609 Psen2 presenilin 2 protein_coding Mus_musculus

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