CA5A (carbonic anhydrase 5A)

Gene

• Entrez ID: 763
• Gene name: Carbonic anhydrase 5A
• Gene symbol: CA5A
• Synonyms (NCBI Gene): CA5, CA5AD, CAV, CAVA, GS1-21A4.1
• Chromosome: 16
• Chromosome location: 16q24.2
• Summary: Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147623570	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs563971993	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs587777316	A>G	Pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs767402215	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018476	hsa-miR-335-5p	Microarray	18185580
MIRT856604	hsa-miR-3153	CLIP-seq
MIRT856605	hsa-miR-3611	CLIP-seq
MIRT856606	hsa-miR-4261	CLIP-seq
MIRT856607	hsa-miR-4289	CLIP-seq
MIRT856608	hsa-miR-4668-5p	CLIP-seq
MIRT856609	hsa-miR-4738-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004089	Function	Carbonate dehydratase activity	IBA
GO:0004089	Function	Carbonate dehydratase activity	IDA	8356065
GO:0004089	Function	Carbonate dehydratase activity	IEA
GO:0004089	Function	Carbonate dehydratase activity	IMP	24530203
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	8356065
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	7490083
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 114761
• HGNC: 1377
• e!Ensembl: ENSG00000174990

Protein

• UniProt ID: P35218
• Protein name: Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) (Carbonate dehydratase VA) (Carbonic anhydrase VA) (CA-VA)
• Protein function: Mitochondrial carbonic anhydrase that catalyzes the reversible conversion of carbon dioxide to bicarbonate/HCO3 (PubMed:24530203, PubMed:8356065). Mitochondria are impermeable to HCO3, and thus this intramitochondrial carbonic anhydrase is pivot
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00194	Carb_anhydrase	39 → 295	Eukaryotic-type carbonic anhydrase	Domain

• Sequence:

  MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPG
  GTRQSPINIQWRDSVYDPQLKPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPL
  ENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWNSVKYQNYKEAVVGENGLAVI
  GVFLKLGAHHQTLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCWDYWTYAGSLTTPPLT
  ESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATN
  EGTRS

• Sequence length: 305

Pathways

KEGG:

Nitrogen metabolism
Metabolic pathways

Reactome:

Reversible hydration of carbon dioxide

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CA5A-related disorder	Pathogenic	rs753677978	RCV003414378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Pathogenic; Likely pathogenic	rs1391715924, rs1232431574, rs753677978, rs563971993, rs767402215, rs2055884613	RCV002701032 RCV003230787 RCV006271937 RCV000681608 RCV000691071 RCV001250192	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ 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
Anemia	Anemia	BEFREE	22422066, 29852412		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30543678		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	24581832		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26902604, 29207674		★☆☆☆☆ Found in Text Mining only
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	Carbonic Anhydrase VA Deficiency	CLINGEN_DG	23589845, 24530203, 26913920, 7574487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	Carbonic Anhydrase VA Deficiency	GENOMICS_ENGLAND_DG	24530203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	Carbonic Anhydrase VA Deficiency	ORPHANET_DG	24530203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	Carbonic Anhydrase VA Deficiency	CLINVAR_DG	24530203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	Carbonic Anhydrase VA Deficiency	UNIPROT_DG	24530203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	Carbonic Anhydrase VA Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29575396		★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	BEFREE	29296972		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30543678		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28799503		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia Type 2	Episodic ataxia	Pubtator	18434528	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26747525	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	31113495		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	6370286	Associate	★☆☆☆☆ Found in Text Mining only
Hyperammonemia	Hyperammonemia	Pubtator	24530203, 26913920, 36499355	Associate	★☆☆☆☆ Found in Text Mining only
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Hyperammonemic Encephalopathy	BEFREE	24530203		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Hyperammonemic Encephalopathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoglycemia	Hypoglycemia	Pubtator	32809955	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26902604, 29207674		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28386695		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28799503		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29207674		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28799503		★☆☆☆☆ Found in Text Mining only
Pyruvate Carboxylase Deficiency Disease	Pyruvate Carboxylase Deficiency Disease	BEFREE	24530203		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	16055201		★☆☆☆☆ Found in Text Mining only