1. Gene
  2. CA12 - carbonic anhydrase 12 Gene

CA12 - carbonic anhydrase 12 Gene

Homo sapiens

Also known as CAXII; CA-XII; T18816; HsT18816

Gene ID: 771 | Gene type: protein coding

About CA12

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:63,321,378-63,381,846 (from NCBI)

This gene has 6 transcripts (splice variants), 215 orthologues, 14 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 105.5), skin (RPKM 54.4) and 6 other tissues.

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, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]

CA12 Products(4)

mRNA Protein Name
NM_206925.3 NP_996808.1 carbonic anhydrase 12 isoform 2 precursor
NM_001218.5 NP_001209.1 carbonic anhydrase 12 isoform 1 precursor
NM_001293642.2 NP_001280571.1 carbonic anhydrase 12 isoform 3 precursor
NR_135511.2

CA12 Protein Structure

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (32 - 289)

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  • 354 a.a.
Protein Preferred Names Protein Names

carbonic anhydrase 12

carbonate dehydratase XII

carbonic anhydrase XII

carbonic dehydratase

tumor antigen HOM-RCC-3.1.3

Recombinant CA12 Proteins

Cat. No. Product Name Accession Purity
HY-P71720 CA12/Carbonic Anhydrase 12 Protein, Human (P.pastoris, His) O43570 (25A-301S) ≥95%
HY-P72866 CA12/Carbonic Anhydrase 12 Protein, Human (HEK293, His) O43570 (A25-Q291) ≥95%

Related Diseases

Diseases Alias
Lung Leiomyoma

Pulmonary Leiomyoma

Leiomyoma Of Lung

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens

CBAVD

Cavd

Congenital Bilateral Aplasia Of Vas Deferens

Congenital Bilateral Absence Of The Vas Deferens

Congenital Bilateral Agenesis Of Vas Deferens

Absence Of Vas Deferens

Absent Vasa

Congenital Absence Of Vas Deferens

Congenital Aplasia Of Vas Deferens

Absent Vas Deferens

Vas Deferens, Congenital Bilateral Absence

Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1

PHA1B

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I

Generalized Pha1

Generalized Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pha1

Pseudohypoaldosteronism

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

Pseudohypoaldosteronism Type 1, Recessive

Pseudohypoaldosteronism Type I

Autosomal Recessive Pha1

Pha Type 1

Pseudohypoaldosteronism 1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism Type I, Autosomal Recessive

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis

Marble Brain Disease

OPTB3

Guibaud-Vainsel Syndrome

Carbonic Anhydrase Ii Deficiency

Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis

Autosomal Recessive Osteopetrosis 3

Carbonic Anhydrase 2 Deficiency

Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis

Osteopetrosis Autosomal Recessive 3

Autosomal Recessive Osteopetrosis Type 3

Guibaud Vainsel Syndrome

Mixed Rta

Mixed Renal Tubular Acidosis

Renal Tubular Acidosis Type 3

Carbonic Anhydrase Ii Deficiency Syndrome

Carbonic Anhydrase Ii Variant

Osteopetrosis, Autosomal Recessive, Type 3

Carbonic Anhydrase 2

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Hyperchlorhidrosis, Isolated

Isolated Hyperchlorhidrosis

HYCHL

Carbonic Anhydrase Xii Deficiency

Non-Proliferative Fibrocystic Change Of The Breast

Non-Proliferative Fibrocystic Change

Breast Fibrocystic Change, Non-Proliferative Type

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus CA12 VGNC VGNC:60242
Canis familiaris CA12 VGNC VGNC:38607
Macaca mulatta CA12 VGNC VGNC:70488
Mus musculus CA12 MGD MGI:1923709
Bos taurus CA12 VGNC VGNC:26650
Rattus norvegicus CA12 RGD RGD:1306612
Macaca fascicularis CA12 NCBI NCBI:102128063
Others CA12 NCBI