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
GO:0004089 Function Carbonate dehydratase activity IEA
GO:0004089 Function Carbonate dehydratase activity TAS 9636197
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Isolated Hyperchlorhidrosis isolated hyperchlorhidrosis rs775067652, rs757974800, rs267606694, rs879253800 N/A
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
Dental caries Dental caries N/A N/A GWAS
Gout Gout N/A N/A GWAS
Neuroblastoma Neuroblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
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