CA4 (carbonic anhydrase 4)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
762
Gene name Gene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CA4
Synonyms (NCBI Gene) Gene synonyms aliases
CAIV, Car4, RP17
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.1
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 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114760 1375 ENSG00000167434
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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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 Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
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
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Retinitis Pigmentosa retinitis pigmentosa, retinitis pigmentosa 17, Retinitis Pigmentosa, Dominant N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease 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