CPA6 (carboxypeptidase A6)

2007-02-01 Affiliation

Identity

HGNC

CPA6

LOCATION

8q13.2

LOCUSID

57094

ALIAS

CPAH,ETL5,FEB11

FUSION GENES

Show Gene Fusions

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: 57094
MIM: 609562
HGNC: 17245
Ensembl: ENSG00000165078

Variants:

dbSNP: 57094
ClinVar: 57094
TCGA: ENSG00000165078
COSMIC: CPA6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000165078	ENST00000297770	Q8N4T0
ENSG00000165078	ENST00000479862	Q8N4T0
ENSG00000165078	ENST00000638254	Q8N4T0

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA443890	Diabetes Mellitus, Type 2	Disease	ClinicalAnnotation	associated		PD	29650774
PA450395	metformin	Chemical	ClinicalAnnotation	associated		PD	29650774

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19790060	2009	Thrombin-activatable carboxypeptidase B cleavage of osteopontin regulates neutrophil survival and synoviocyte binding in rheumatoid arthritis.	24
18178555	2008	Characterization of carboxypeptidase A6, an extracellular matrix peptidase.	19
12454025	2002	A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.	15
20855895	2010	Substrate specificity of human carboxypeptidase A6.	13
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.	11
21922598	2012	Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.	9
23105115	2012	Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.	8
24290490	2014	Increased CPA6 promoter methylation in focal epilepsy and in febrile seizures.	6

Citation

Dessen P

CPA6 (carboxypeptidase A6)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43944/cpa6