CAPZA3 (capping actin protein of muscle Z-line subunit alpha 3)

2014-11-01  

Identity

HGNC
LOCATION
12p12.3
LOCUSID
ALIAS
CAPPA3,Gsg3,HEL-S-86

Other Information

Locus ID:

NCBI: 93661
MIM: 608722
HGNC: 24205
Ensembl: ENSG00000177938

Variants:

dbSNP: 93661
ClinVar: 93661
TCGA: ENSG00000177938
COSMIC: CAPZA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177938ENST00000317658Q96KX2
ENSG00000177938ENST00000317658A0A140VKF6

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
120290702002Molecular cloning and characterization of the human orthologue of male germ cell-specific actin capping protein alpha3 (cpalpha3).6
120290702002Molecular cloning and characterization of the human orthologue of male germ cell-specific actin capping protein alpha3 (cpalpha3).6

Citation

Dessen P

CAPZA3 (capping actin protein of muscle Z-line subunit alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61417/capza3-(capping-actin-protein-of-muscle-z-line-subunit-alpha-3)