CA2 - carbonic anhydrase 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 760

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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-P78746 Carbonic Anhydrase 2 Protein, Human (HEK293, His) NP_000058.1 (M1-K260) ≥ 95%, as determined by reducing SDS-PAGE.

CA2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83617 Carbonic Anhydrase 2 Antibody (YA3362) WB, IHC-P Human, Mouse, Rat
HY-P83617A Carbonic Anhydrase 2 Antibody (YA3362)(PBS only) WB, IHC-P Human, Mouse, Rat

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
Others CA2 NCBI