TLL2 (tolloid like 2)

2018-02-01  

Identity

HGNC
LOCATION
10q24.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 7093
MIM: 606743
HGNC: 11844
Ensembl: ENSG00000095587

Variants:

dbSNP: 7093
ClinVar: 7093
TCGA: ENSG00000095587
COSMIC: TLL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095587ENST00000357947Q9Y6L7

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Anchoring fibril formationREACTOMER-HSA-2214320
Crosslinking of collagen fibrilsREACTOMER-HSA-2243919
Degradation of the extracellular matrixREACTOMER-HSA-1474228

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
188241732008Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases.20
237774862013Cross-species genetics converge to TLL2 for mouse avoidance behavior and human bipolar disorder.6
287964142018Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival.1
318885252019Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report.0

Citation

Dessen P

TLL2 (tolloid like 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57313/tll2