CPAMD8 (C3 and PZP like alpha-2-macroglobulin domain containing 8)

2014-11-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
ASGD8,K-CAP,VIP
FUSION GENES

Other Information

Locus ID:

NCBI: 27151
MIM: 608841
HGNC: 23228
Ensembl: ENSG00000160111

Variants:

dbSNP: 27151
ClinVar: 27151
TCGA: ENSG00000160111
COSMIC: CPAMD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160111ENST00000291440F8W7D1
ENSG00000160111ENST00000388925F8W7D1
ENSG00000160111ENST00000443236Q8IZJ3
ENSG00000160111ENST00000594249M0R0Z5
ENSG00000160111ENST00000598792M0R3G7
ENSG00000160111ENST00000599287M0QXH3
ENSG00000160111ENST00000651564A0A494C0S9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
151775612004Identification and characterization of CPAMD8, a novel member of the complement 3/alpha2-macroglobulin family with a C-terminal Kazal domain.8
278398722016Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.7

Citation

Dessen P

CPAMD8 (C3 and PZP like alpha-2-macroglobulin domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62047/cpamd8