Entity Details

Primary name CPA6
Entity type gene
Source Source Link

Details

PrimaryID57094
RefseqGeneNG_027682
SymbolCPA6
Namecarboxypeptidase A6
Chromosome8
Location8q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-31
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCBPA6_HUMAN

GO terms

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GOName
GO:0004181 metallocarboxypeptidase activity
GO:0005615 extracellular space
GO:0006508 proteolysis
GO:0008270 zinc ion binding

Diseases

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Disease IDSourceNameDescription
614417 OMIMEpilepsy, familial temporal lobe, 5 (ETL5)A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. The disease is caused by variants affecting the gene represented in this entry.
614418 OMIMFebrile seizures, familial, 11 (FEB11)Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

13 interactions

InteractorPartnerSourcesPublicationsLink
CPA6DICER1BioGRID, IntAct28514442 details
CPA6PPP6R1BioGRID, IntAct28514442 details
CPA6HECTD3BioGRID, IntAct28514442 details
CPA6AMER1BioGRID, IntAct28514442 details
CPA6FUT11BioGRID, IntAct28514442 details
CPA6TARBP2BioGRID, IntAct28514442 details
CPA6CHURC1-FNTBIntAct28514442 details
CPA6FNTBBioGRID, IntAct28514442 details
CPA6UBBBioGRID, IntAct28514442 details
CPA6ZZEF1BioGRID, IntAct28514442 details
CPA6PPM1GBioGRID, IntAct28514442 details
CPA6FBXO15BioGRID, IntAct26186194 28514442 details
CPA6YWHAZBioGRID, IntAct30021884 details