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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: neurofibromin 2 (merlin)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000186575 NF2 9606 + 22:29603556-29698598 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000334961 NF2-008 29603727-29683915 protein_coding
  ENST00000338641 NF2-001 29603558-29698598 protein_coding
  ENST00000353887 NF2-005 29603747-29694811 protein_coding
  ENST00000361166 NF2-007 29603999-29694806 protein_coding
  ENST00000361452 NF2-010 29603617-29698594 protein_coding
  ENST00000361676 NF2-006 29603999-29694811 protein_coding
  ENST00000397789 NF2-009 29603999-29694811 protein_coding
  ENST00000403435 NF2-004 29603588-29684162 protein_coding
  ENST00000403999 NF2-003 29603633-29683915 protein_coding
  ENST00000413209 NF2-201 29603556-29698594 protein_coding
  ENST00000432151 NF2-002 29603949-29694945 nonsense_mediated_decay

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000338641ENST00000353887ENST00000361166ENST00000361452ENST00000361676ENST00000403435ENST00000403999ENST00000413209
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000338641 4.182±0.00 4.393±0.00 N/A 4.871±1.23 0.373±0.00 N/A 2.278±0.00 5.381±0.00 1.562±0.00 2.333±1.27 N/A 2.531±2.88 1.737±0.35 4.693±0.65
ENST00000353887 N/A N/A N/A N/A N/A N/A N/A 0.581±0.00 N/A 2.790±0.00 N/A N/A N/A 5.180±0.00
ENST00000361166 N/A N/A 3.292±0.00 3.224±0.00 1.586±0.00 3.941±0.00 2.540±0.00 N/A 5.418±0.00 0.888±0.00 N/A 3.164±1.30 1.678±0.46 14.043±0.00
ENST00000361452 1.833±0.00 6.011±0.00 N/A 3.975±3.10 5.431±0.00 2.374±0.00 2.978±1.82 2.670±1.84 N/A N/A 4.995±0.00 1.926±0.31 1.101±0.64 1.323±0.00
ENST00000361676 N/A N/A N/A N/A N/A N/A N/A 1.706±0.00 N/A N/A N/A N/A N/A N/A
ENST00000403435 N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.603±0.00 N/A N/A N/A N/A
ENST00000403999 N/A N/A N/A N/A 0.587±0.00 N/A N/A N/A N/A 0.633±0.00 N/A N/A N/A N/A
ENST00000413209 N/A N/A N/A N/A N/A 1.481±0.00 N/A 2.153±0.00 N/A N/A N/A 1.547±0.00 N/A N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001707 IEA mesoderm formation
GO:0001726 IEA ruffle
GO:0001953 TAS negative regulation of cell-matrix adhesion
GO:0003779 IEA actin binding
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005730 IDA nucleolus
GO:0005737 IDA:IEA cytoplasm
GO:0005769 IDA early endosome
GO:0005856 TAS:IEA cytoskeleton
GO:0005886 IDA plasma membrane
GO:0005912 IEA adherens junction
GO:0006469 IEA negative regulation of protein kinase activity
GO:0007398 IEA ectoderm development
GO:0007420 IEA brain development
GO:0008092 IEA cytoskeletal protein binding
GO:0008156 IMP negative regulation of DNA replication
GO:0008285 IDA negative regulation of cell proliferation
GO:0014010 IMP Schwann cell proliferation
GO:0016020 IDA membrane
GO:0019898 IEA extrinsic component of membrane
GO:0021766 IEA hippocampus development
GO:0022408 IDA negative regulation of cell-cell adhesion
GO:0030027 IEA lamellipodium
GO:0030036 IMP actin cytoskeleton organization
GO:0030175 IEA filopodium
GO:0030336 TAS negative regulation of cell migration
GO:0030864 IEA cortical actin cytoskeleton
GO:0031647 IEA regulation of protein stability
GO:0032154 IEA cleavage furrow
GO:0035330 IMP regulation of hippo signaling
GO:0042127 IEA regulation of cell proliferation
GO:0042475 IEA odontogenesis of dentin-containing tooth
GO:0042518 IDA negative regulation of tyrosine phosphorylation of Stat3 protein
GO:0042524 IDA negative regulation of tyrosine phosphorylation of Stat5 protein
GO:0043409 IEA negative regulation of MAPK cascade
GO:0045177 IEA apical part of cell
GO:0045216 IEA cell-cell junction organization
GO:0045597 IEA positive regulation of cell differentiation
GO:0046426 IDA negative regulation of JAK-STAT cascade
GO:0048471 IDA perinuclear region of cytoplasm
GO:0051496 IMP positive regulation of stress fiber assembly
GO:0070306 IEA lens fiber cell differentiation
GO:1900180 IEA regulation of protein localization to nucleus
GO:2000177 IEA regulation of neural precursor cell proliferation

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000020204 nf2a neurofibromin 2a (merlin) protein_coding Danio_rerio
ENSMUSG00000009073 Nf2 neurofibromatosis 2 protein_coding Mus_musculus

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