CA3 (carbonic anhydrase 3)

Gene

• Entrez ID: 761
• Gene name: Carbonic anhydrase 3
• Gene symbol: CA3
• Synonyms (NCBI Gene): CAIII, Car3
• Chromosome: 8
• Chromosome location: 8q21.2
• Summary: Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dio

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018185	hsa-miR-335-5p	Microarray	18185580
MIRT023831	hsa-miR-1-3p	Microarray	18668037
MIRT856599	hsa-miR-1825	CLIP-seq
MIRT856600	hsa-miR-199a-5p	CLIP-seq
MIRT856601	hsa-miR-199b-5p	CLIP-seq
MIRT856602	hsa-miR-3925-3p	CLIP-seq
MIRT856603	hsa-miR-539	CLIP-seq
MIRT1954415	hsa-miR-4659a-3p	CLIP-seq
MIRT1954416	hsa-miR-4659b-3p	CLIP-seq
MIRT1954417	hsa-miR-4778-3p	CLIP-seq
MIRT2191931	hsa-miR-383	CLIP-seq
MIRT2191932	hsa-miR-4772-5p	CLIP-seq
MIRT2191933	hsa-miR-617	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0004089	Function	Carbonate dehydratase activity	IBA
GO:0004089	Function	Carbonate dehydratase activity	IDA	18618712
GO:0004089	Function	Carbonate dehydratase activity	IEA
GO:0004089	Function	Carbonate dehydratase activity	TAS	3086182
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	18618712
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0016151	Function	Nickel cation binding	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033993	Process	Response to lipid	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0044320	Process	Cellular response to leptin stimulus	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0097305	Process	Response to alcohol	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IEA
GO:1903751	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IEA

Other IDs

• MIM: 114750
• HGNC: 1374
• e!Ensembl: ENSG00000164879

Protein

• UniProt ID: P07451
• Protein name: Carbonic anhydrase 3 (EC 4.2.1.1) (Carbonate dehydratase III) (Carbonic anhydrase III) (CA-III)
• Protein function: Reversible hydration of carbon dioxide.
• PDB: 1Z93, 1Z97, 2HFW, 3UYN, 3UYQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00194	Carb_anhydrase	4 → 258	Eukaryotic-type carbonic anhydrase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Muscle specific. {ECO:0000269|PubMed:3086182, ECO:0000269|PubMed:3099285}.
• Sequence:

  MAKEWGYASHNGPDHWHELFPNAKGENQSPVELHTKDIRHDPSLQPWSVSYDGGSAKTIL
  NNGKTCRVVFDDTYDRSMLRGGPLPGPYRLRQFHLHWGSSDDHGSEHTVDGVKYAAELHL
  VHWNPKYNTFKEALKQRDGIAVIGIFLKIGHENGEFQIFLDALDKIKTKGKEAPFTKFDP
  SCLFPACRDYWTYQGSFTTPPCEECIVWLLLKEPMTVSSDQMAKLRSLLSSAENEPPVPL
  VSNWRPPQPINNRVVRASFK

• Sequence length: 260

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
FATTY LIVER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	36646964	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26293308	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32107063	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17612900	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	17612900	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29454310	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	35016406	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31390226		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37090740	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15836783	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31390226		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	30312748		★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	31439488		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28437447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	BEFREE	29196444		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31390226		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35016406	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	37108648	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	6370286	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	38090549	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12927591		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17612900	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29454310, 32183030	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	27185459	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	3918446, 3925781		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	28933591		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	12745799		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12927591, 22964225, 29248440		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	28437447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	36646964	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	36093484	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19196822	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26099944		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	36232882	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29454310	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32183030	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28437447		★☆☆☆☆ Found in Text Mining only