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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Isolated hyperchlorhidrosis Pathogenic; Likely pathogenic rs879253800, rs775067652, rs267606694, rs757974800 RCV000236787
RCV000235472
RCV000006931
RCV000680444
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CA12-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31366496
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 18322268
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma LHGDN 18322268
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 18322268 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 27613534
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18451179, 22016510, 26276155, 28433659, 29786141, 30132883, 30452451, 30784287, 31546841, 31636386
★☆☆☆☆
Found in Text Mining only
Breast Diseases Breast disease Pubtator 11238049 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12671706, 20132413, 22106898, 27081041, 27629143, 30452451, 31979064, 34696661, 40644891 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Male Male breast neoplasms Pubtator 23308200 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33883691 Associate
★☆☆☆☆
Found in Text Mining only