• Gene id: 760

Gene Summary

• Gene Symbol: CA2   Gene   UCSC   Ensembl
• Aliases: CA-II, CAC, CAII, Car2, HEL-76, HEL-S-282
• Gene name: carbonic anhydrase 2
• Alternate names: carbonic anhydrase 2, carbonate dehydratase II, carbonic anhydrase B, carbonic anhydrase C, carbonic anhydrase II, carbonic dehydratase, epididymis luminal protein 76, epididymis secretory protein Li 282,
• Gene location: 8q21.2 (85463901: 85481491)     Exons: 7     NC_000008.11
• Gene summary(Entrez): 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 encodin
• OMIM: 611492

SNPs

rs10250822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17293365C>A
NC_000007.14   g.17293365C>G
NC_000007.14   g.17293365C>T
NC_000007.13   g.17332989C>A
NC_000007.13   g.17332989C>G
NC_000007.13   g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609

rs10247158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17285544A>T
NC_000007.13   g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609

rs10249788

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs3757824

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17296411T>C
NC_000007.14   g.17296411T>G
NC_000007.13   g.17336035T>C
NC_000007.13   g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609

Protein Summary

• Protein general information: P00918  
  • Name: Carbonic anhydrase 2 (EC 4.2.1.1) (Carbonate dehydratase II) (Carbonic anhydrase C) (CAC) (Carbonic anhydrase II) (CA II)
  • Length: 260  
  • Mass: 29,246
• Sequence:

  MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEFDDSQD
  KAVLKGGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVG
  SAKPGLQKVVDVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQVLKF
  RKLNFNGEGEPEELMVDNWRPAQPLKNRQIKASFK

• Structural information:
  • Protein Domains: Alpha-carbonic (3-259)
  • Interpro: IPR001148  IPR023561  IPR018338  IPR036398  
  • Prosite: PS00162 PS51144
  • PDB: 12CA 1A42 1AM6 1AVN 1BCD 1BIC 1BN1 1BN3 1BN4 1BNM 1BNN 1BNQ 1BNT 1BNU 1BNV 1BNW 1BV3 1CA2 1CA3 1CAH 1CAI 1CAJ 1CAK 1CAL 1CAM 1CAN 1CAO 1CAY 1CAZ 1CCS 1CCT 1CCU 1CIL 1CIM 1CIN 1CNB 1CNC 1CNG 1CNH 1CNI 1CNJ 1CNK 1CNW 1CNX 1CNY 1CRA 1CVA 1CVB 1CVC 1CVD 1CVE
  • PDBsum: 12CA 1A42 1AM6 1AVN 1BCD 1BIC 1BN1 1BN3 1BN4 1BNM 1BNN 1BNQ 1BNT 1BNU 1BNV 1BNW 1BV3 1CA2 1CA3 1CAH 1CAI 1CAJ 1CAK 1CAL 1CAM 1CAN 1CAO 1CAY 1CAZ 1CCS 1CCT 1CCU 1CIL 1CIM 1CIN 1CNB 1CNC 1CNG 1CNH 1CNI 1CNJ 1CNK 1CNW 1CNX 1CNY 1CRA 1CVA 1CVB 1CVC 1CVD 1CVE
  • STRING: ENSP00000285379
• Other Databases: GeneCards:  CA2  Malacards:  CA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001822	kidney development	IEA	biological process
GO:0002009	morphogenesis of an epithelium	IEA	biological process
GO:0004064	arylesterase activity	IMP	molecular function
GO:0004089	carbonate dehydratase activity	IMP	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0009268	response to pH	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0015670	carbon dioxide transport	IEA	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0032230	positive regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0032849	positive regulation of cellular pH reduction	IEA	biological process
GO:0038166	angiotensin-activated signaling pathway	IDA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0043627	response to estrogen	IEA	biological process
GO:0044070	regulation of anion transport	IDA	biological process
GO:0045177	apical part of cell	IDA	cellular component
GO:0045672	positive regulation of osteoclast differentiation	IEA	biological process
GO:0045780	positive regulation of bone resorption	IEA	biological process
GO:0046903	secretion	IEA	biological process
GO:0051453	regulation of intracellular pH	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071498	cellular response to fluid shear stress	IEA	biological process
GO:2001150	positive regulation of dipeptide transmembrane transport	ISS	biological process
GO:2001225	regulation of chloride transport	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0002009	morphogenesis of an epithelium	IEA	biological process
GO:0004064	arylesterase activity	IMP	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0004089	carbonate dehydratase activity	IEA	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	IMP	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0009268	response to pH	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0015670	carbon dioxide transport	IEA	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0032230	positive regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0032849	positive regulation of cellular pH reduction	IEA	biological process
GO:0038166	angiotensin-activated signaling pathway	IDA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0043627	response to estrogen	IEA	biological process
GO:0044070	regulation of anion transport	IDA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0045672	positive regulation of osteoclast differentiation	IEA	biological process
GO:0045780	positive regulation of bone resorption	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046903	secretion	IEA	biological process
GO:0048545	response to steroid hormone	IEA	biological process
GO:0051453	regulation of intracellular pH	IEA	biological process
GO:0051453	regulation of intracellular pH	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071498	cellular response to fluid shear stress	IEA	biological process
GO:2001150	positive regulation of dipeptide transmembrane transport	IEA	biological process
GO:2001150	positive regulation of dipeptide transmembrane transport	ISS	biological process
GO:2001225	regulation of chloride transport	IEA	biological process
GO:0004064	arylesterase activity	IMP	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	IMP	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0004089	carbonate dehydratase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0015701	bicarbonate transport	TAS	biological process
GO:0038166	angiotensin-activated signaling pathway	IDA	biological process
GO:0044070	regulation of anion transport	IDA	biological process
GO:0045177	apical part of cell	IDA	cellular component
GO:0051453	regulation of intracellular pH	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:2001150	positive regulation of dipeptide transmembrane transport	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04971	Gastric acid secretion
hsa04972	Pancreatic secretion
hsa04976	Bile secretion
hsa04964	Proximal tubule bicarbonate reclamation
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Osteoporosis	GAD: 19371798
Osteopetrosis	KEGG: H00436
Osteopetrosis	OMIM: 611492
Endometriosis	INFBASE: 11883743
Male factor infertility	MIK: 21243755
Asthenozoospermia	MIK: 21243755
Combined proximal and distal renal tubular acidosis	KEGG: H00241
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenozoospermia	MIK: 21243755
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21243755	Asthenozoospermia			32 (16 normozoospermic, 16 asthenozoospermic volunteers)	Male infertility	CA2
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881