CA2 (carbonic anhydrase 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
760
Gene name Gene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CA2
Synonyms (NCBI Gene) Gene synonyms aliases
CA-II, CAC, CAII, Car2, HEL-76, HEL-S-282
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, qRT-PCR, Western blot 24670789
Transcription factors
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611492 1373 ENSG00000104267
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Osteopetrosis osteopetrosis rs573750741 N/A
Osteopetrosis With Renal Tubular Acidosis osteopetrosis with renal tubular acidosis rs118203933, rs1444065478, rs118203934, rs573750741, rs1554709677, rs779869368, rs1203921376 N/A
Show/Hide Text Mining Associations (102)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Renal Tubular Associate 12566520, 27540713, 35292549, 4202671
Adenocarcinoma Associate 15710986, 34636283
Adenocarcinoma Inhibit 21829465
Adenocarcinoma of Lung Associate 22761399
Adenoma Associate 12372813, 34636283, 36631756
Aicardi Goutieres syndrome Associate 24552219
Alzheimer Disease Associate 26293308, 29485232
Alzheimer Disease Stimulate 32107063
Arthritis Rheumatoid Associate 18787303
Astrocytoma Associate 17435181, 18297103