ADAM30 (ADAM metallopeptidase domain 30)

2014-11-01  

Identity

HGNC
LOCATION
1p12
LOCUSID
ALIAS
svph4

Other Information

Locus ID:

NCBI: 11085
MIM: 604779
HGNC: 208
Ensembl: ENSG00000134249

Variants:

dbSNP: 11085
ClinVar: 11085
TCGA: ENSG00000134249
COSMIC: ADAM30

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134249ENST00000369400Q9UKF2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
ReproductionREACTOMER-HSA-1474165
FertilizationREACTOMER-HSA-1187000
Interaction With The Zona PellucidaREACTOMER-HSA-1300644

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185913882008Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.129
198623252009PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.70
273330342016ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease.8

Citation

Dessen P

ADAM30 (ADAM metallopeptidase domain 30)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60136/adam30