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CA12 (carbonic anhydrase 12)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
771
Gene nameGene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 12
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CA12
SynonymsGene synonyms aliases
CA-XII, CAXII, HsT18816, T18816
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.2
SummarySummary 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,
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs148438059 C>T Pathogenic Splice acceptor variant
rs267606694 C>T Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs757974800 CA>- Likely-pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs775067652 G>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs879253800 ->AGGT Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001475 hsa-miR-16-5p pSILAC 18668040
MIRT018561 hsa-miR-335-5p Microarray 18185580
MIRT022970 hsa-miR-124-3p Microarray 18668037
MIRT027182 hsa-miR-103a-3p Sequencing 20371350
MIRT031348 hsa-miR-18a-5p Sequencing 20371350
Transcription factors
Transcription factor Regulation Reference
VHL Unknown 9770531
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004089 Function Carbonate dehydratase activity IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0006730 Process One-carbon metabolic process IBA 21873635
GO:0008270 Function Zinc ion binding IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O43570
Protein name Carbonic anhydrase 12 (EC 4.2.1.1) (Carbonate dehydratase XII) (Carbonic anhydrase XII) (CA-XII) (Tumor antigen HOM-RCC-3.1.3)
Protein function Reversible hydration of carbon dioxide.
PDB 1JCZ , 1JD0 , 4HT2 , 4KP5 , 4KP8 , 4Q0L , 4QJ0 , 4QJO , 4QJW , 4WW8 , 5LL5 , 5LL9 , 5LLO , 5LLP , 5MSA , 5MSB , 6G5L , 6G7A , 6QN0 , 6QNG , 6QNL , 6R6Y , 6R71 , 6RPS , 6T5P , 6T5Q , 7PP9 , 7PUU , 7PUV , 7PUW , 8CO3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00194 Carb_anhydrase
31 288
Eukaryotic-type carbonic anhydrase
Domain
Sequence
Sequence length 354
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Nitrogen metabolism
Metabolic pathways
  Reversible hydration of carbon dioxide
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Isolated hyperchlorhidrosis Isolated hyperchlorhidrosis rs267606694, rs879253800, rs775067652, rs757974800
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 27935865
Unknown
Disease name Disease term dbSNP ID References
Lung neoplasms Lung Neoplasms 27935865

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