CA2 (carbonic anhydrase 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 760
Gene name Carbonic anhydrase 2
Gene symbol CA2
Synonyms (NCBI Gene)
CA-IICACCAIICar2HEL-76HEL-S-282
Chromosome 8
Chromosome location 8q21.2
Summary The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encodin
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs2228063 A>G Pathogenic, benign, benign-likely-benign Missense variant, coding sequence variant
rs118203932 C>A,G Pathogenic Missense variant, coding sequence variant
rs118203933 C>T Pathogenic Intron variant, coding sequence variant, missense variant
rs779869368 A>- Likely-pathogenic Frameshift variant, coding sequence variant
rs1203921376 C>G Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
47
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (47)
miRTarBase ID miRNA Experiments Reference
MIRT030094 hsa-miR-26b-5p Sequencing 20371350
MIRT030094 hsa-miR-26b-5p Microarray 19088304
MIRT050149 hsa-miR-26a-5p CLASH 23622248
MIRT038519 hsa-miR-99b-3p CLASH 23622248
MIRT323483 hsa-miR-23b-3p Luciferase reporter assayqRT-PCRWestern blot 24670789
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
JUN Unknown 11382925
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0002009 Process Morphogenesis of an epithelium IEA
GO:0004064 Function Arylesterase activity IMP 3126084
GO:0004089 Function Carbonate dehydratase activity IBA
GO:0004089 Function Carbonate dehydratase activity IEA
GO:0004089 Function Carbonate dehydratase activity IMP 1336460, 7758465, 11015219, 11802772, 11831900, 14736236, 16290146, 16686544, 16759856, 16807956, 17127057, 17540563, 17588751, 17705204, 18024029, 18162396, 18266323, 18374572, 18481843, 18640037, 19170619, 19206230, 19778001
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611492 1373 ENSG00000104267
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00918
Protein name Carbonic anhydrase 2 (EC 4.2.1.1) (Carbonate dehydratase II) (Carbonic anhydrase C) (CAC) (Carbonic anhydrase II) (CA-II) (Cyanamide hydratase CA2) (EC 4.2.1.69)
Protein function Catalyzes the reversible hydration of carbon dioxide (PubMed:11327835, PubMed:11802772, PubMed:11831900, PubMed:12056894, PubMed:12171926, PubMed:1336460, PubMed:14736236, PubMed:15300855, PubMed:15453828, PubMed:15667203, PubMed:15865431, PubMe
PDB 12CA , 1A42 , 1AM6 , 1AVN , 1BCD , 1BIC , 1BN1 , 1BN3 , 1BN4 , 1BNM , 1BNN , 1BNQ , 1BNT , 1BNU , 1BNV , 1BNW , 1BV3 , 1CA2 , 1CA3 , 1CAH , 1CAI , 1CAJ , 1CAK , 1CAL , 1CAM , 1CAN , 1CAO , 1CAY , 1CAZ , 1CCS , 1CCT , 1CCU , 1CIL , 1CIM , 1CIN , 1CNB , 1CNC , 1CNG , 1CNH , 1CNI , 1CNJ , 1CNK , 1CNW , 1CNX , 1CNY , 1CRA , 1CVA , 1CVB , 1CVC , 1CVD , 1CVE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00194 Carb_anhydrase 4 → 258 Eukaryotic-type carbonic anhydrase Domain
Sequence
Sequence length 260
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Nitrogen metabolism
Metabolic pathways
Proximal tubule bicarbonate reclamation
Collecting duct acid secretion
Gastric acid secretion
Pancreatic secretion
Bile secretion 		  Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Reversible hydration of carbon dioxide
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CA2-related disorder Likely pathogenic rs1450302081, rs1469283598 RCV003420927
RCV003921471
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARBONIC ANHYDRASE II VARIANT Pathogenic rs118203931, rs118203932 RCV000000962
RCV000000963
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Likely pathogenic rs1811576779, rs1203921376 RCV002274320
RCV002274114
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis Pathogenic rs573750741 RCV004798827
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (19)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE PANCREATITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE OSTEOPETROSIS 3 — ClinGen, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (210)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute intermittent porphyria Intermittent Porphyria BEFREE 16804408
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 15378696
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22229267
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 1700414
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 15378696
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 15378696
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 15378696
★★★★★
★☆☆☆☆
Found in Text Mining only
Aicardi Goutieres syndrome Aicardi goutieres syndrome Pubtator 24552219 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26293308, 29485232 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32107063 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only