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Gene Gene information from NCBI Gene database.
Entrez ID 11238
Gene name Carbonic anhydrase 5B
Gene symbol CA5B
Synonyms (NCBI Gene)
CA-VBCAVB
Chromosome X
Chromosome location Xp22.2
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,
miRNA miRNA information provided by mirtarbase database.
813 Show/Hide all (813)
miRTarBase ID miRNA Experiments Reference
MIRT018795 hsa-miR-335-5p Microarray 18185580
MIRT021623 hsa-miR-142-3p Microarray 17612493
MIRT023038 hsa-miR-124-3p Microarray 18668037
MIRT051681 hsa-let-7e-5p CLASH 23622248
MIRT049682 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16 Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0004089 Function Carbonate dehydratase activity IBA
GO:0004089 Function Carbonate dehydratase activity IDA 10409679
GO:0004089 Function Carbonate dehydratase activity IEA
GO:0004089 Function Carbonate dehydratase activity TAS 10409679
GO:0005515 Function Protein binding IPI 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300230 1378 ENSG00000169239
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2D0
Protein name Carbonic anhydrase 5B, mitochondrial (EC 4.2.1.1) (Carbonate dehydratase VB) (Carbonic anhydrase VB) (CA-VB)
Protein function Mitochondrial carbonic anhydrase that catalyzes the reversible conversion of carbon dioxide to bicarbonate/HCO3.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00194 Carb_anhydrase 38 → 295 Eukaryotic-type carbonic anhydrase Domain
Tissue specificity TISSUE SPECIFICITY: Strongest expression in heart, pancreas, kidney, placenta, lung, and skeletal muscle. Not expressed in liver. {ECO:0000269|PubMed:10409679}.
Sequence
Sequence length 317
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Nitrogen metabolism Reversible hydration of carbon dioxide
Metabolic pathways  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 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 Reference Evidence Score
Thyroid cancer, nonmedullary, 1 Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Episodic Ataxia Type 2 Episodic ataxia Pubtator 17161621 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 21347333, 22820136 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Respiratory Tract Diseases Respiratory system infectious disease Pubtator 34895312 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only