Identity
HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
ASGD8,K-CAP,VIP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27151
MIM: 608841
HGNC: 23228
Ensembl: ENSG00000160111
Variants:
dbSNP: 27151
ClinVar: 27151
TCGA: ENSG00000160111
COSMIC: CPAMD8
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34154991 | 2022 | Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma. | 5 |
| 34154991 | 2022 | Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma. | 5 |
| 32085876 | 2020 | Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. | 16 |
| 32274568 | 2020 | CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. | 11 |
| 32085876 | 2020 | Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. | 16 |
| 32274568 | 2020 | CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. | 11 |
| 27839872 | 2016 | Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. | 21 |
| 27839872 | 2016 | Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. | 21 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 15177561 | 2004 | Identification and characterization of CPAMD8, a novel member of the complement 3/alpha2-macroglobulin family with a C-terminal Kazal domain. | 14 |
| 15177561 | 2004 | Identification and characterization of CPAMD8, a novel member of the complement 3/alpha2-macroglobulin family with a C-terminal Kazal domain. | 14 |
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-(c3-and-pzp-like-alpha-2-macroglobulin-domain-containing-8)
