Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
771
Gene name Gene Name - the full gene name approved by the HGNC.
Carbonic anhydrase 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CA12
Synonyms (NCBI Gene) Gene synonyms aliases
CA-XII, CAXII, HsT18816, T18816
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.2
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.
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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603263 1371 ENSG00000074410
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
Tissue specificity TISSUE SPECIFICITY: Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis. E
Sequence
Sequence length 354
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Nitrogen metabolism
Metabolic pathways
  Reversible hydration of carbon dioxide
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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 term Disease name Evidence References Source
Gout Gout GWAS
Neuroblastoma Neuroblastoma Loss of SNAI2 function reduces self-renewal, 3D invasion as well as metastatic spread in vivo, while strongly sensitizing neuroblastoma cells to RA-induced growth inhibition. GWAS, CBGDA
Dental caries Dental caries GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 36385130
Adenomatous Polyposis Coli Associate 10666387
Astrocytoma Associate 18322268
Breast Diseases Associate 11238049
Breast Neoplasms Associate 12671706, 20132413, 22106898, 27081041, 27629143, 30452451, 31979064, 34696661, 40644891
Breast Neoplasms Male Associate 23308200
Carcinoma Hepatocellular Associate 33883691
Carcinoma Intraductal Noninfiltrating Associate 11238049
Carcinoma Renal Cell Associate 12384800, 15994878, 20936840, 29481555, 33604999, 9770531
Carcinoma Squamous Cell Stimulate 22439015