CA5A (carbonic anhydrase 5A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 763
Gene name Carbonic anhydrase 5A
Gene symbol CA5A
Synonyms (NCBI Gene)
CA5CA5ADCAVCAVAGS1-21A4.1
Chromosome 16
Chromosome location 16q24.2
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,
SNPs SNP information provided by dbSNP.
4
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.
7
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114761 1377 ENSG00000174990
Protein Protein information from UniProt database.
Gene SNPs miRNA 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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
162
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CA5A-related disorder Pathogenic rs753677978 RCV003414378
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Pathogenic; Likely pathogenic rs1391715924, rs1232431574, rs753677978, rs563971993, rs767402215, rs2055884613 RCV002701032
RCV003230787
RCV006271937
RCV000681608
RCV000691071
RCV001250192
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs12922226 RCV005896270
Malignant lymphoma, large B-cell, diffuse Benign rs72816311 RCV005896271
Uterine carcinosarcoma Benign rs72816311 RCV005896272
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease 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