CA2

Carbonic anhydrase 2 (EC 4.2.1.1) (Carbonate dehydratase II) (Carbonic anhydrase C) (CAC) (Carbonic anhydrase II) (CA-II)

Homo sapiens (Human)

29246

260

METAL 94 94 Zinc; catalytic. {ECO:0000269|PubMed:11076507, ECO:0000269|PubMed:12499545, ECO:0000269|PubMed:1336460, ECO:0000269|PubMed:1433293, ECO:0000269|PubMed:1909891, ECO:0000269|PubMed:19583303, ECO:0000269|PubMed:3151019, ECO:0000269|PubMed:3151020, ECO:0000269|PubMed:4621826, ECO:0000269|PubMed:7761440, ECO:0000269|PubMed:7803386, ECO:0000269|PubMed:7901850, ECO:0000269|PubMed:8218160, ECO:0000269|PubMed:8262987, ECO:0000269|PubMed:8331673, ECO:0000269|PubMed:8399159, ECO:0000269|PubMed:8431430, ECO:0000269|PubMed:8451242, ECO:0000269|PubMed:8482389, ECO:0000269|PubMed:8639494, ECO:0000269|PubMed:8987974, ECO:0000269|PubMed:9398308, ECO:0000269|PubMed:9865942}.; METAL 96 96 Zinc; catalytic. {ECO:0000269|PubMed:11076507, ECO:0000269|PubMed:12499545, ECO:0000269|PubMed:1336460, ECO:0000269|PubMed:1433293, ECO:0000269|PubMed:1909891, ECO:0000269|PubMed:19583303, ECO:0000269|PubMed:3151019, ECO:0000269|PubMed:3151020, ECO:0000269|PubMed:7761440, ECO:0000269|PubMed:7803386, ECO:0000269|PubMed:7901850, ECO:0000269|PubMed:8218160, ECO:0000269|PubMed:8262987, ECO:0000269|PubMed:8331673, ECO:0000269|PubMed:8399159, ECO:0000269|PubMed:8431430, ECO:0000269|PubMed:8451242, ECO:0000269|PubMed:8482389, ECO:0000269|PubMed:8639494, ECO:0000269|PubMed:8987974, ECO:0000269|PubMed:9398308, ECO:0000269|PubMed:9865942}.; METAL 119 119 Zinc; catalytic. {ECO:0000269|PubMed:11076507, ECO:0000269|PubMed:12499545, ECO:0000269|PubMed:1336460, ECO:0000269|PubMed:1433293, ECO:0000269|PubMed:1909891, ECO:0000269|PubMed:19583303, ECO:0000269|PubMed:3151019, ECO:0000269|PubMed:3151020, ECO:0000269|PubMed:7761440, ECO:0000269|PubMed:7803386, ECO:0000269|PubMed:7901850, ECO:0000269|PubMed:8218160, ECO:0000269|PubMed:8262987, ECO:0000269|PubMed:8331673, ECO:0000269|PubMed:8399159, ECO:0000269|PubMed:8431430, ECO:0000269|PubMed:8451242, ECO:0000269|PubMed:8482389, ECO:0000269|PubMed:8639494, ECO:0000269|PubMed:8987974, ECO:0000269|PubMed:9398308, ECO:0000269|PubMed:9865942}.

Carbonic anhydrase 2 (EC 4.2.1.1) (Carbonate dehydratase II) (Carbonic anhydrase C) (CAC) (Carbonic anhydrase II) (CA-II)

Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation. {ECO:0000269|PubMed:15300855, ECO:0000269|PubMed:1542674, ECO:0000269|PubMed:1928091, ECO:0000269|PubMed:8834238, ECO:0000269|PubMed:9143915}. Note=The disease is caused by mutations affecting the gene represented in this entry.

MUTAGEN 5 5 W->A: Impaired activity, not rescued by 4-methylimidazole (4-MI); when associated with W-64. {ECO:0000269|PubMed:17071654}.; MUTAGEN 7 7 Y->F: Enhanced activity. {ECO:0000269|PubMed:12171926, ECO:0000269|PubMed:17330962}.; MUTAGEN 7 7 Y->H: Reduced proton transfer rate. {ECO:0000269|PubMed:12171926, ECO:0000269|PubMed:17330962}.; MUTAGEN 62 62 N->A: Reduced activity. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:18942852}.; MUTAGEN 62 62 N->D: Strongly reduced activity. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:18942852}.; MUTAGEN 62 62 N->H: Reduced proton transfer; when associated with A-64. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:18942852}.; MUTAGEN 62 62 N->L: Reduced activity. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:18942852}.; MUTAGEN 62 62 N->T: Reduced activity. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:18942852}.; MUTAGEN 62 62 N->V: Reduced activity. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:18942852}.; MUTAGEN 64 64 H->A: Reduced CO(2) hydrase activity, rescued by 4-methylimidazole (4-MI). Reduced proton transfer; when associated with H-62. Enhanced proton transfer; when associated with H-67. Enhanced proton transfer capacity; when associated with H-99. {ECO:0000269|PubMed:11327835, ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:16106378, ECO:0000269|PubMed:17071654}.; MUTAGEN 64 64 H->G: Impaired activity, not rescued by 4-methylimidazole (4-MI). {ECO:0000269|PubMed:11327835, ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:16106378, ECO:0000269|PubMed:17071654}.; MUTAGEN 64 64 H->W: Impaired activity, rescued by 4-methylimidazole (4-MI). Impaired activity, not rescued by 4-methylimidazole (4-MI); when associated with A-5. {ECO:0000269|PubMed:11327835, ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:16106378, ECO:0000269|PubMed:17071654}.; MUTAGEN 65 65 A->F: Reduced activity. {ECO:0000269|PubMed:19170619}.; MUTAGEN 65 65 A->H,L,S: Normal activity. {ECO:0000269|PubMed:19170619}.; MUTAGEN 67 67 N->H: Enhanced proton transfer; when associated with A-64. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:19170619}.; MUTAGEN 67 67 N->L: Reduced activity. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:19170619}.; MUTAGEN 67 67 N->Q: Normal activity. {ECO:0000269|PubMed:15667203, ECO:0000269|PubMed:17330962, ECO:0000269|PubMed:19170619}.; MUTAGEN 94 94 H->C,D,E,N,Q: Strongly reduced CO(2) hydrase and p-nitrophenyl acetate esterase activities, impaired stability of zinc binding. {ECO:0000269|PubMed:8431430, ECO:0000269|PubMed:9398308}.; MUTAGEN 106 106 E->A,Q: Strongly reduced CO(2) hydrase activity. {ECO:0000269|PubMed:15299482, ECO:0000269|PubMed:7901850}.; MUTAGEN 106 106 E->D: Normal CO(2) hydrase activity. {ECO:0000269|PubMed:15299482, ECO:0000269|PubMed:7901850}.; MUTAGEN 117 117 E->Q: Strongly reduced activity and sulfonamide affinity. {ECO:0000269|PubMed:8639494}.; MUTAGEN 119 119 H->D,N,Q: Reduced activity. {ECO:0000269|PubMed:9398308}.; MUTAGEN 119 119 H->E: Strongly reduced activity. {ECO:0000269|PubMed:9398308}.; MUTAGEN 121 121 V->A,G,I,L,S: Reduced CO(2) hydrase and p-nitrophenyl acetate esterase activities. {ECO:0000269|PubMed:1910042}.; MUTAGEN 121 121 V->K,R: Strongly reduced CO(2) hydrase and p-nitrophenyl acetate esterase activities. {ECO:0000269|PubMed:1910042}.; MUTAGEN 142 142 V->F,Y: Strongly impaired activity. {ECO:0000269|PubMed:1932029}.; MUTAGEN 142 142 V->G: Weakly impaired activity. {ECO:0000269|PubMed:1932029}.; MUTAGEN 142 142 V->H: Impaired activity. {ECO:0000269|PubMed:1932029}.; MUTAGEN 197 197 L->A: Reduced CO(2) hydrase activity. {ECO:0000269|PubMed:8485129}.; MUTAGEN 197 197 L->E,H,R: Strongly reduced CO(2) hydrase activity. {ECO:0000269|PubMed:8485129}.; MUTAGEN 197 197 L->F: Normal activity. {ECO:0000269|PubMed:8485129}.; MUTAGEN 198 198 T->A,C,H,P: Strongly reduced activity. {ECO:0000269|PubMed:12056894, ECO:0000269|PubMed:7761440, ECO:0000269|PubMed:7901850, ECO:0000269|PubMed:8262987, ECO:0000269|PubMed:8399159}.; MUTAGEN 198 198 T->D,E: Strongly reduced activity, but enhanced zinc affinity. {ECO:0000269|PubMed:12056894, ECO:0000269|PubMed:7761440, ECO:0000269|PubMed:7901850, ECO:0000269|PubMed:8262987, ECO:0000269|PubMed:8399159}.; MUTAGEN 198 198 T->S,V: Reduced activity. {ECO:0000269|PubMed:12056894, ECO:0000269|PubMed:7761440, ECO:0000269|PubMed:7901850, ECO:0000269|PubMed:8262987, ECO:0000269|PubMed:8399159}.; MUTAGEN 199 199 T->H: Higher affinity for bicarbonate. Enhanced proton transfer capacity; when associated with A-64. {ECO:0000269|PubMed:16106378, ECO:0000269|PubMed:1909891, ECO:0000269|PubMed:8451242}.; MUTAGEN 199 199 T->S: Enhanced p-nitrophenyl acetate esterase activity, but normal CO(2) hydrase activity. {ECO:0000269|PubMed:16106378, ECO:0000269|PubMed:1909891, ECO:0000269|PubMed:8451242}.; MUTAGEN 201 201 P->A: Normal CO(2) hydrase activity, but impaired stability. {ECO:0000269|PubMed:8218160}.

MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLKGGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVVDVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELMVDNWRPAQPLKNRQIKASFK

Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6. {ECO:0000250, ECO:0000269|PubMed:10550681, ECO:0000269|PubMed:11831900, ECO:0000269|PubMed:15990874}.

Beta strand (9); Chain (1); Compositional bias (1); Disulfide bond (3); Domain (1); Glycosylation (4); Helix (2); Natural variant (3); Region (1); Repeat (12); Sequence conflict (1); Signal peptide (1); Topological domain (2); Transmembrane (1); Turn (1); The extracellular part of the protein can be cleaved and detected in urine and is in correlation with the expression in the kidney.; Up-regulated in the kidney in renal diseases (at protein level). {ECO:0000269|PubMed:17471468}.; Widely expressed, with highest levels in kidney and testis. Expressed by activated CD4+ T-cells during the development of helper T-cells responses. {ECO:0000269|PubMed:9658108}.

Carbonic anhydrase 2 (EC 4.2.1.1) (Carbonate dehydratase II) (Carbonic anhydrase C) (CAC) (Carbonic anhydrase II) (CA-II)

Recombinant

HEK293

Lyophilized

7.4-7.5

Sterile-filtered colorless solution

1mg/ml

Standard

PBS

SDS-PAGE

> 98%

RP-HPLC

-20°C

This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.

Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.