CA5A (carbonic anhydrase 5A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
763
Gene name Gene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 5A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CA5A
Synonyms (NCBI Gene) Gene synonyms aliases
CA5, CA5AD, CAV, CAVA, GS1-21A4.1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114761 1377 ENSG00000174990
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 305
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Nitrogen metabolism
Metabolic pathways 		  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 Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyperammonemic Encephalopathy hyperammonemic encephalopathy due to carbonic anhydrase va deficiency rs563971993, rs767402215 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Channelopathies Associate 18434528
Episodic Ataxia Type 2 Associate 18434528
Head and Neck Neoplasms Associate 26747525
Hodgkin Disease Associate 6370286
Hyperammonemia Associate 24530203, 26913920, 36499355
Hyperlactatemia Associate 26913920
Hypoglycemia Associate 32809955
Ketosis Associate 26913920