Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 760
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
OMIM 611492

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
Prosite:   PS00162 PS51144

Pfam:  
PF00194

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
MINT:   1367766
STRING:   ENSP00000285379;
Other Databases GeneCards:  CA2;  Malacards:  CA2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001822 kidney development
IEA biological_process
GO:0002009 morphogenesis of an epith
elium
IEA biological_process
GO:0004064 arylesterase activity
IMP molecular_function
GO:0004089 carbonate dehydratase act
ivity
IMP molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
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 proc
ess
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 membra
ne
IEA cellular_component
GO:0030424 axon
IEA cellular_component
GO:0032230 positive regulation of sy
naptic transmission, GABA
ergic
IEA biological_process
GO:0032849 positive regulation of ce
llular pH reduction
IEA biological_process
GO:0038166 angiotensin-activated sig
naling pathway
IDA biological_process
GO:0042475 odontogenesis of dentin-c
ontaining tooth
IEA biological_process
GO:0043209 myelin sheath
IEA cellular_component
GO:0043627 response to estrogen
IEA biological_process
GO:0044070 regulation of anion trans
port
IDA biological_process
GO:0045177 apical part of cell
IDA cellular_component
GO:0045672 positive regulation of os
teoclast differentiation
IEA biological_process
GO:0045780 positive regulation of bo
ne resorption
IEA biological_process
GO:0046903 secretion
IEA biological_process
GO:0051453 regulation of intracellul
ar pH
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071498 cellular response to flui
d shear stress
IEA biological_process
GO:2001150 positive regulation of di
peptide transmembrane tra
nsport
ISS biological_process
GO:2001225 regulation of chloride tr
ansport
IEA biological_process
GO:0001822 kidney development
IEA biological_process
GO:0002009 morphogenesis of an epith
elium
IEA biological_process
GO:0004064 arylesterase activity
IMP molecular_function
GO:0004089 carbonate dehydratase act
ivity
IEA molecular_function
GO:0004089 carbonate dehydratase act
ivity
IEA molecular_function
GO:0004089 carbonate dehydratase act
ivity
IEA molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
IMP molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
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 proc
ess
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 subst
ance
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 membra
ne
IEA cellular_component
GO:0016829 lyase activity
IEA molecular_function
GO:0030424 axon
IEA cellular_component
GO:0032230 positive regulation of sy
naptic transmission, GABA
ergic
IEA biological_process
GO:0032849 positive regulation of ce
llular pH reduction
IEA biological_process
GO:0038166 angiotensin-activated sig
naling pathway
IDA biological_process
GO:0042475 odontogenesis of dentin-c
ontaining tooth
IEA biological_process
GO:0043209 myelin sheath
IEA cellular_component
GO:0043627 response to estrogen
IEA biological_process
GO:0044070 regulation of anion trans
port
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 os
teoclast differentiation
IEA biological_process
GO:0045780 positive regulation of bo
ne resorption
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046903 secretion
IEA biological_process
GO:0048545 response to steroid hormo
ne
IEA biological_process
GO:0051453 regulation of intracellul
ar pH
IEA biological_process
GO:0051453 regulation of intracellul
ar pH
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071498 cellular response to flui
d shear stress
IEA biological_process
GO:2001150 positive regulation of di
peptide transmembrane tra
nsport
IEA biological_process
GO:2001150 positive regulation of di
peptide transmembrane tra
nsport
ISS biological_process
GO:2001225 regulation of chloride tr
ansport
IEA biological_process
GO:0004064 arylesterase activity
IMP molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
IMP molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
TAS molecular_function
GO:0004089 carbonate dehydratase act
ivity
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 sig
naling pathway
IDA biological_process
GO:0044070 regulation of anion trans
port
IDA biological_process
GO:0045177 apical part of cell
IDA cellular_component
GO:0051453 regulation of intracellul
ar pH
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:2001150 positive regulation of di
peptide transmembrane tra
nsport
ISS biological_process

KEGG pathways

hsa04976  Bile secretion
hsa04972  Pancreatic secretion
hsa04971  Gastric acid secretion
hsa04964  Proximal tubule bicarbonate reclamation
hsa04966  Collecting duct acid secretion
hsa00910  Nitrogen metabolism

Diseases

Associated diseases References
Asthenozoospermia PMID: 21243755
Combined proximal and distal renal tubular acidosis KEGG: H00241
Endometriosis PMID: 11883743
Osteoporosis KEGG: H00436, OMIM: 611492
Endometriosis INFBASE11883743

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11883743 Endometrio
sis
IL-10 (Polymorphisms at position -1082 and -592), CA II (-592*CC genotype, -592*C allele)
356 (96 patient
s with endometr
iosis, 160 fert
ile healthy wom
en)
carbonic anhydrase II
IL-10
Show abstract