Gene Gene information from NCBI Gene database.
Entrez ID 771
Gene name Carbonic anhydrase 12
Gene symbol CA12
Synonyms (NCBI Gene)
CA-XIICAXIIHsT18816T18816
Chromosome 15
Chromosome location 15q22.2
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.
5
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.
1004
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
VHL Unknown 9770531
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603263 1371 ENSG00000074410
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Isolated hyperchlorhidrosis Pathogenic; Likely pathogenic rs879253800, rs775067652, rs267606694, rs757974800 RCV000236787
RCV000235472
RCV000006931
RCV000680444
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CA12-related disorder Likely benign; Benign rs1285248490, rs200579432, rs369371181, rs151338276 RCV003929059
RCV003981494
RCV003942014
RCV003921971
Colon adenocarcinoma Conflicting classifications of pathogenicity rs148438059 RCV005893618
Gastric cancer Benign rs79029250 RCV005916863
Malignant lymphoma, large B-cell, diffuse Benign rs79029250 RCV005916862
Associations from Text MiningDisease 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