CA4 (carbonic anhydrase 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 762
Gene name Carbonic anhydrase 4
Gene symbol CA4
Synonyms (NCBI Gene)
CAIVCar4RP17
Chromosome 17
Chromosome location 17q23.1
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.
6
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs104894559 C>T Pathogenic Non coding transcript variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs121434551 C>A,T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs121434552 G>A Pathogenic 5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs185658468 A>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs201580764 C>A,T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0004089 Function Carbonate dehydratase activity IBA
GO:0004089 Function Carbonate dehydratase activity IEA
GO:0004089 Function Carbonate dehydratase activity TAS 1311094
GO:0005515 Function Protein binding IPI 15563508
GO:0005791 Component Rough endoplasmic reticulum IDA 17409381
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114760 1375 ENSG00000167434
Protein Protein information from UniProt database.
Gene SNPs 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.
P22748
Protein name Carbonic anhydrase 4 (EC 4.2.1.1) (Carbonate dehydratase IV) (Carbonic anhydrase IV) (CA-IV)
Protein function Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH (PubMed:15563508, PubMed:16686544, PubMed:16807956, PubMed:17127057, PubMed:17314045, PubMe
PDB 1ZNC , 3F7B , 3F7U , 3FW3 , 5IPZ , 5JN8 , 5JN9 , 5JNA , 5JNC , 5KU6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00194 Carb_anhydrase 22 → 284 Eukaryotic-type carbonic anhydrase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels. {ECO:0000269|PubMed:15563508}.
Sequence
Sequence length 312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Nitrogen metabolism
Metabolic pathways
Proximal tubule bicarbonate reclamation 		  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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
100
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Retinal dystrophy Likely pathogenic rs767868852, rs2544528483 RCV003889845
RCV003889849
Show/Hide Unknown Diseases (15)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CA4-related disorder Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign rs537429987, rs576701016, rs104894559, rs142961963, rs147624521, rs185658468, rs530720914, rs146141867, rs111561872, rs756230727 RCV003948453
RCV003984242
RCV003914854
RCV003969922
RCV004758000
RCV003940282
RCV003935357
RCV003928003
RCV004758091
RCV003902904
Cholangiocarcinoma Benign; Likely benign rs117704637 RCV005887772
Clear cell carcinoma of kidney Benign; Likely benign rs117704637 RCV005887766
Hepatocellular carcinoma Benign; Likely benign rs117704637 RCV005887763
Show/Hide Text Mining Associations (20)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 15710986
Alzheimer Disease Associate 24731980, 30541599
Autoimmune Pancreatitis Associate 15647194
Breast Neoplasms Associate 31182966
Carcinoma Renal Cell Associate 33221754
Cholangiocarcinoma Associate 33737613
Colorectal Neoplasms Inhibit 26071132
Colorectal Neoplasms Associate 37804699
Endometriosis Associate 38456992
Hand Foot and Mouth Disease Associate 21524954