CPA6 (carboxypeptidase A6)

Gene

• Entrez ID: 57094
• Gene name: Carboxypeptidase A6
• Gene symbol: CPA6
• Synonyms (NCBI Gene): CPAH, ETL5, FEB11
• Chromosome: 8
• Chromosome location: 8q13.2
• Summary: The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme h

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35993949	G>C	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs147067921	A>G,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs199576384	T>C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs376266840	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs773734224	G>A	Uncertain-significance, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs778807405	G>-	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022945	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	NAS	11836249
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 609562
• HGNC: 17245
• e!Ensembl: ENSG00000165078

Protein

• UniProt ID: Q8N4T0
• Protein name: Carboxypeptidase A6 (EC 3.4.17.-)
• Protein function: May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preferen
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02244	Propep_M14	43 → 118	Carboxypeptidase activation peptide	Domain
  PF00246	Peptidase_M14	145 → 424	Zinc carboxypeptidase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the hippocampus, nucleus raphe, and cortex. {ECO:0000269|PubMed:21922598}.
• Sequence:

  MKCLGKRRGQAAAFLPLCWLFLKILQPGHSHLYNNRYAGDKVIRFIPKTEEEAYALKKIS
  YQLKVDLWQPSSISYVSEGTVTDVHIPQNGSRALLAFLQEANIQYKVLIEDLQKTLEKGS
  SLHTQRNRRSLSGYNYEVYHSLEEIQNWMHHLNKTHSGLIHMFSIGRSYEGRSLFILKLG
  RRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLNHLYFYIMPVFNV
  DGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESE
  PEVKAVANFLRKHRKHIRAYLSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQS
  VYGVRYRYGPASTTLYVSSGSSMDWAYKNGIPYAFAFELRDTGYFGFLLPEMLIKPTCTE
  TMLAVKNITMHLLKKCP

• Sequence length: 437

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL MESIAL TEMPORAL LOBE EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL PALSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONFUSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CPA6-related disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, FAMILIAL TEMPORAL LOBE, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial temporal lobe epilepsy 2	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial temporal lobe epilepsy 5	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign; no classifications from unflagged records	ClinVar ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Febrile seizures, familial, 11	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR HETEROTOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Benign familial mesial temporal lobe epilepsy	Benign mesial temporal lobe epilepsy	ORPHANET_DG	21922598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign familial mesial temporal lobe epilepsy	Benign mesial temporal lobe epilepsy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	26648591	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32570281	Inhibit	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24449579		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	20885977		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29650774	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29650774		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	12454025, 20855895, 20885977		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	23105115	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	21922598, 23105115, 24290490		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23105115, 25875328		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	23105115, 25875328	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	23105115, 25875328	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5	Epilepsy	UNIPROT_DG	21922598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5	Epilepsy	GENOMICS_ENGLAND_DG	23105115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5	Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5	Epilepsy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	BEFREE	25875328		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	21922598, 23105115, 25875328		★☆☆☆☆ Found in Text Mining only
Familial mesial temporal lobe epilepsy with febrile seizures	Mesial Temporal Lobe Epilepsy With Febrile Seizures	Orphanet			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	21922598, 23105115, 24290490, 25875328, 31612389		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
FEBRILE SEIZURES, FAMILIAL, 11	Febrile seizures	UNIPROT_DG	21922598		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FEBRILE SEIZURES, FAMILIAL, 11	Febrile seizures	GENOMICS_ENGLAND_DG	23105115		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FEBRILE SEIZURES, FAMILIAL, 11	Febrile seizures	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FEBRILE SEIZURES, FAMILIAL, 11	Febrile seizures	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	25875328		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31612389		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	25875328	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	20855895		★☆☆☆☆ Found in Text Mining only
Periventricular gray matter heterotopia	Periventricular gray matter heterotopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	23105115, 25875328	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only