1. Gene
  2. CA2 - carbonic anhydrase 2 Gene

CA2 - carbonic anhydrase 2 Gene

Homo sapiens

Also known as CAC; CAII; Car2; CA-II; HEL-76; HEL-S-282

Gene ID: 760 | Gene type: protein coding

About CA2

Cytogenetic location: 8q21.2 Genomic coordinates (GRCh38): 8:85,464,007-85,481,493 (from NCBI)

This gene has 5 transcripts (splice variants), 285 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 493.8), colon (RPKM 349.1) and 8 other tissues.

Summary

The protein encoded by this gene is one of several isozymes of Carbonic Anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this Enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

CA2 Products(2)

mRNA Protein Name
NM_001293675.2 NP_001280604.1 carbonic anhydrase 2 isoform 2
NM_000067.3 NP_000058.1 carbonic anhydrase 2 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables arylesterase activity IMP
IMP: Inferred from mutant phenotype
3126084 GOA
enables carbonate dehydratase activity IMP
IMP: Inferred from mutant phenotype
1336460 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14736710 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
3151020 GOA
Biological Process GO Annotation Evidence Reference Source
involved in angiotensin-activated signaling pathway IDA
IDA: Inferred from direct assay
15990874 GOA
involved in regulation of monoatomic anion transport IDA
IDA: Inferred from direct assay
15990874 GOA
Cellular Component GO Annotation Evidence Reference Source
located in apical part of cell IDA
IDA: Inferred from direct assay
14675051 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
114507 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
15990874 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CA2 Protein Structure

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (5 - 259)

  • 0
  • 100
  • 200
  • 260 a.a.
Protein Preferred Names Protein Names

carbonic anhydrase 2

carbonate dehydratase II

carbonic anhydrase B

carbonic anhydrase C

carbonic anhydrase II

carbonic dehydratase

cyanamide hydratase CA2

epididymis luminal protein 76

epididymis secretory protein Li 282

Recombinant CA2 Proteins

Cat. No. Product Name Accession Purity
HY-P72860 Carbonic Anhydrase 2 Protein, Human (C-His, Solution) NP_000058.1 (S2-K260) ≥95%
HY-P78746 Carbonic Anhydrase 2 Protein, Human (HEK293, His) NP_000058.1 (M1-K260) ≥95%

Related Diseases

Diseases Alias
Distal Renal Tubular Acidosis

Classic Rta

Familial Distal Primary Acidosis

Renal Tubular Acidosis Type 1

Drta

Renal Tubular Acidosis, Distal

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

Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune

Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy

Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Pancreatitis

Mumps Pancreatitis

Sjogren Syndrome

Sicca Syndrome

Sjogren'S Syndrome

Sjogren-Gougerot Syndrome

Sjögren Syndrome

Keratoconjunctivitis Sicca

Sjögren'S Syndrome

Xerodermosteosis

Dacryosialoadenopathia Atrophicans

Gougerot-Houwer-Sjogren Syndrome

Gougerot-Sjogren Syndrome

Keratoconjunctivitis Sicca-Xerostomia

Secreto-Inhibitor-Xerodermostenosis

Primary Sjogren Syndrome

Primary Sjogren-Gougerot Syndrome

Sjogrens Syndrome Primary

Sjogrens Syndrome

Dry Eye Syndromes

Cholangitis

Acute Cholangiolitis

Ascending Cholangitis

Cholangiolitis

Cholangitis Nos

Chronic Cholangiolitis

Hepatic Duct Inflammation

Acute Cholangitis

Bile Duct Inflammation

Multiple Cranial Nerve Palsy

Multiple Cranial Nerve Palsies

Benign Giant Cell Tumor

Giant Cell Tumors

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Osteopetrosis, Autosomal Dominant 2

OPTA2

Autosomal Dominant Osteopetrosis 2

Osteopetrosis Autosomal Dominant Type 2

Osteopetrosis, Autosomal Dominant, Type Ii

Albers-Schonberg Osteopetrosis

Autosomal Dominant Albers-Schonberg Disease

Osteopetrosis

Marble Bones, Autosomal Dominant

Osteosclerosis Fragilis Generalisata

Albers-Schonberg Disease, Autosomal Dominant

Autosomal Dominant Osteopetrosis Type Ii

Albers-Schönberg Osteopetrosis

Autosomal Dominant Osteopetrosis Type 2

Marble Disease Autosomal Dominant

Osteopetrosis, Autosomal Dominant, Type 2

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Glossopharyngeal Nerve Disease

Ninth Cranial Nerve Disease

Glossopharyngeal Nerve Diseases

Disorders Of The Ninth Cranial Nerve

Disorders Of 9th Cranial Nerve

Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Cancer Of The Pancreas

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Endosteal Hyperostosis, Autosomal Dominant

Osteosclerosis

Worth Syndrome

Osteosclerosis, Autosomal Dominant

Hyperostosis, Endosteal

Endosteal Hyperostosis, Worth Type

Worth Disease

Autosomal Dominant Osteosclerosis, Worth Type

Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus

Autosomal Dominant Endosteal Hyperostosis

Autosomal Dominant Osteosclerosis

Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus

Worth'S Syndrome

Worth Type Autosomal Dominant Osteosclerosis

Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus

Osteosclerosis, Autosomal Dominant, Worth Type

WENHY

Endosteal Hyperostosis Autosomal Dominant

Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus

Osteosclerosis Autosomal Dominant

Acquired Osteosclerosis

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri

Benign Intracranial Hypertension

Idiopathic Intracranial Hypertension

Iih

Benign Intracran. Hypt.

Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia

Ocular Hypertension

Hypertension, Ocular

Intraocular Pressure Increase

Oh - [Ocular Hypertension]

Oht - [Ocular Hypertension]

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Igg4-Related Disease

Multifocal Fibrosclerosis

Igg4-Related Sclerosing Disease

Igg4-Related Systemic Disease

Immunoglobulin G4-Related Sclerosing Disease

Hyper-Igg4 Disease

Igg4-Associated Disease

Igg4-Positive Multiorgan Lymphoproliferative Syndrome

Igg4-Related Autoimmune Disease

Igg4-Related Systemic Sclerosing Disease

Igg4-Syndrome

Multifocal Idiopathic Fibrosclerosis

Systemic Igg4-Related Plasmacytic Syndrome

Systemic Igg4-Related Sclerosing Syndrome

Mediastinal Fibrosis, Familial

Retroperitoneal Fibrosis, Familial

Igg4-Rd

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Autoimmune Pancreatitis

Lymphoplasmocytic Sclerosing Pancreatitis

Aip

Mikulicz Disease

Igg4-Related Dacryoadenitis And Sialadenitis

Mikulicz'S Disease

Chronic Dacryoadenitis And Sialadenitis

Mikulicz Syndrome

Mikulicz' Disease

Autoimmune Cholangitis

Autoimmune Cholangiopathy

Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]

Nephrocalcinosis

Hypercalcemic Nephropathy

Subacute Lymphocytic Thyroiditis
Osteopetrosis

Albers-Schonberg Disease

Marble Bone Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Metabolic Acidosis
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
Canis familiaris CA2 VGNC VGNC:38610
Rattus norvegicus CA2 RGD RGD:2240
Felis catus CA2 VGNC VGNC:60250
Mus musculus CA2 MGD MGI:88269
Macaca mulatta CA2 VGNC VGNC:70490
Macaca fascicularis CA2 NCBI NCBI:101866067
Others CA2 NCBI