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CA2 Gene

protein-coding GIFtS: 69

GC08P086563

carbonic anhydrase II
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CA-II ^¹, ², ³
CAC ^³
CAII ^¹, ²
Car2 ^¹, ²
EC 4.2.1.1 ^³

Descriptions
Carbonate dehydratase II ^², ³
Carbonic anhydrase C ^³
carbonic anhydrase B ^²
carbonic anhydrase II ^², ³
carbonic dehydratase ^²

External Ids
HGNC: 1373¹
Entrez Gene: 760²
UniProtKB: P00918³
Ensembl: ENSG00000104267⁷

Search outside databases for aliases for CA2 gene

Previous GC identifers: GC08P085200 GC08P086333 GC08P086156 GC08P086450

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CA2:

CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes

reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis

and renal tubular acidosis. [provided by RefSeq]

UniProtKB/Swiss-Prot: CAH2_HUMAN, P00918

Function: Essential for bone resorption and osteoclast differentiation (By similarity). Reversible

hydration of carbon dioxide

Gene Wiki entry for CA2 (Carbonic_anhydrase_II)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CA2 gene

Entrez Gene cytogenetic band: 8q22 Ensembl cytogenetic band: 8q21.2 HGNC cytogenetic band: 8q22

CA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P086563: (about GC identifiers)

Start:	86,563,383 bp from pter
End:	86,580,973 bp from pter
Size:	17,591 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000008.9 NT_008183.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CAH2_HUMAN, P00918 (See protein sequence)

Recommended Name: Carbonic anhydrase 2

Size: 260 amino acids; 29246 Da

Cofactor: Zinc

Subunit: Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity

Subcellular location: Cytoplasm

PDB structures from and Proteopedia :

12CA (3D)

1A42 (3D)

1AM6 (3D)

1AVN (3D)

1BCD (3D)

1BIC (3D)

1BN1 (3D)

1BN3 (3D)

1BN4 (3D)

1BNM (3D)

1BNN (3D)

1BNQ (3D)

1BNT (3D)

1BNU (3D)

1BNV (3D)

1BNW (3D)

1BV3 (3D)

1CA2 (3D)

1CA3 (3D)

1CAH (3D)

1CAI (3D)

1CAJ (3D)

1CAK (3D)

1CAL (3D)

1CAM (3D)

1CAN (3D)

1CAO (3D)

1CAY (3D)

1CAZ (3D)

1CCS (3D)

1CCT (3D)

1CCU (3D)

1CIL (3D)

1CIM (3D)

1CIN (3D)

1CNB (3D)

1CNC (3D)

1CNG (3D)

1CNH (3D)

1CNI (3D)

1CNJ (3D)

1CNK (3D)

1CNW (3D)

1CNX (3D)

1CNY (3D)

1CRA (3D)

1CVA (3D)

1CVB (3D)

1CVC (3D)

1CVD (3D)

1CVE (3D)

1CVF (3D)

1CVH (3D)

1DCA (3D)

1DCB (3D)

1EOU (3D)

1F2W (3D)

1FQL (3D)

1FQM (3D)

1FQN (3D)

1FQR (3D)

1FR4 (3D)

1FR7 (3D)

1FSN (3D)

1FSQ (3D)

1FSR (3D)

1G0E (3D)

1G0F (3D)

1G1D (3D)

1G3Z (3D)

1G45 (3D)

1G46 (3D)

1G48 (3D)

1G4J (3D)

1G4O (3D)

1G52 (3D)

1G53 (3D)

1G54 (3D)

1H4N (3D)

1H9N (3D)

1H9Q (3D)

1HCA (3D)

1HEA (3D)

1HEB (3D)

1HEC (3D)

1HED (3D)

1HVA (3D)

1I8Z (3D)

1I90 (3D)

1I91 (3D)

1I9L (3D)

1I9M (3D)

1I9N (3D)

1I9O (3D)

1I9P (3D)

1I9Q (3D)

1IF4 (3D)

1IF5 (3D)

1IF6 (3D)

1IF7 (3D)

1IF8 (3D)

1IF9 (3D)

1KWQ (3D)

1KWR (3D)

1LG5 (3D)

1LG6 (3D)

1LGD (3D)

1LUG (3D)

1LZV (3D)

1MOO (3D)

1MUA (3D)

1OKL (3D)

1OKM (3D)

1OKN (3D)

1OQ5 (3D)

1RAY (3D)

1RAZ (3D)

1RZA (3D)

1RZB (3D)

1RZC (3D)

1RZD (3D)

1RZE (3D)

1T9N (3D)

1TB0 (3D)

1TBT (3D)

1TE3 (3D)

1TEQ (3D)

1TEU (3D)

1TG3 (3D)

1TG9 (3D)

1TH9 (3D)

1THK (3D)

1TTM (3D)

1UGA (3D)

1UGB (3D)

1UGC (3D)

1UGD (3D)

1UGE (3D)

1UGF (3D)

1UGG (3D)

1XEG (3D)

1XEV (3D)

1XPZ (3D)

1XQ0 (3D)

1YDA (3D)

1YDB (3D)

1YDC (3D)

1YDD (3D)

1YO0 (3D)

1YO1 (3D)

1YO2 (3D)

1Z9Y (3D)

1ZE8 (3D)

1ZFK (3D)

1ZFQ (3D)

1ZGE (3D)

1ZGF (3D)

1ZH9 (3D)

1ZSA (3D)

1ZSB (3D)

1ZSC (3D)

2ABE (3D)

2AW1 (3D)

2AX2 (3D)

2CA2 (3D)

2CBA (3D)

2CBB (3D)

2CBC (3D)

2CBD (3D)

2CBE (3D)

2EU2 (3D)

2EU3 (3D)

2EZ7 (3D)

2F14 (3D)

2FMG (3D)

2FMZ (3D)

2FNK (3D)

2FNM (3D)

2FNN (3D)

2FOQ (3D)

2FOS (3D)

2FOU (3D)

2FOV (3D)

2GD8 (3D)

2GEH (3D)

2H15 (3D)

2H4N (3D)

2HD6 (3D)

2HKK (3D)

2HL4 (3D)

2HNC (3D)

2HOC (3D)

2ILI (3D)

2NNG (3D)

2NNO (3D)

2NNS (3D)

2NNV (3D)

2NWO (3D)

2NWP (3D)

2NWY (3D)

2NWZ (3D)

2NXR (3D)

2NXS (3D)

2NXT (3D)

2O4Z (3D)

2OSF (3D)

2OSM (3D)

2POU (3D)

2POV (3D)

2POW (3D)

2Q1B (3D)

2Q1Q (3D)

2Q38 (3D)

2QO8 (3D)

2QOA (3D)

2QP6 (3D)

3B4F (3D)

3BET (3D)

3BL0 (3D)

3BL1 (3D)

3C7P (3D)

3CA2 (3D)

3CAJ (3D)

3CYU (3D)

3D8W (3D)

3D92 (3D)

3D93 (3D)

3D9Z (3D)

3DAZ (3D)

3DBU (3D)

3DC3 (3D)

3DC9 (3D)

3DCC (3D)

3DCS (3D)

3DCW (3D)

3DD0 (3D)

3DD8 (3D)

3DV7 (3D)

3DVB (3D)

3DVC (3D)

3DVD (3D)

3F4X (3D)

4CA2 (3D)

4CAC (3D)

5CA2 (3D)

5CAC (3D)

6CA2 (3D)

7CA2 (3D)

8CA2 (3D)

9CA2 (3D)

Secondary accessions: Q6FI12 Q96ET9

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000058.1

ENSEMBL proteins:

ENSP00000285379

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for CA2 (Carbonic Anhydrase II)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Carbonic Anhydrase II)
	Human Recombinant Proteins from Abnova (CA2)

OriGene Purified Recombinant Human Protein: CA2

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	18029348
GO:0005737	cytoplasm	IDA	114507

About this table

Antibodies for CA2:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of CA2
	Sigma-Aldrich Antibodies for CA2
	R&D Systems Antibodies for CA2 (Carbonic Anhydrase II)
	Antibodies from Abcam (Carbonic Anhydrase II), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for CA2

Assays for CA2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P00918

ProtoNet protein and cluster: P00918

1 Blocks protein family: IPB001148 Carbonic anhydrase

UniProtKB/Swiss-Prot: CAH2_HUMAN, P00918

Similarity: Belongs to the alpha-carbonic anhydrase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CA2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CA2)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000067

Applied Biosystems Silencer® siRNAs for CA2

Sigma-Aldrich siRNA and siRNA Panels for CA2

Sigma-Aldrich shRNA for CA2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000067
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000067
untagged cDNA clones in CMV expression vector (see all 2): NM_000067

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000067

UniProtKB/Swiss-Prot: CAH2_HUMAN, P00918

Function: Essential for bone resorption and osteoclast differentiation (By similarity). Reversible

hydration of carbon dioxide

Catalytic activity: H(2)CO(3) = CO(2) + H(2)O

Enzyme Number (IUBMB): EC 4.2.1.1

Genatlas biochemistry entry for CA2:

carbonic anhydrase II,cytosolic,ubiquitous

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Car2):

digestive/alimentary	endocrine/exocrine gland	growth/size	homeostasis/metabolism	lethality-prenatal/perinatal
renal/urinary system	reproductive system	skeleton

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004089	carbonate dehydratase activity	TAS	1928091
GO:0008270	zinc ion binding	IDA	3151020
GO:0016829	lyase activity	IEA	--
GO:0046872	metal ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for CA2 (Your Favorite Gene powered by Ingenuity)

Nitrogen Metabolism

GeneDecks CA2 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for CA2

5/25 Interacting proteins for CA2 (ENSP00000285379³ P00918²) via UniProtKB, MINT, and/or STRING (see all 25 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTCHD2	Q9P2K9²	MINT-63343
SLC4A1	ENSP00000262418³	STRING (score=.994)
SLC9A1	ENSP00000263980³	STRING (score=.992)
ENSG00000166278	ENSP00000299367³	STRING (score=.959)
ATP6V1B1	ENSP00000234396³	STRING (score=.933)

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002009	morphogenesis of an epithelium	IEA	--
GO:0006730	one-carbon compound metabolic process	IEA	--
GO:0015670	carbon dioxide transport	IEA	--
GO:0046903	secretion	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for CA2:

Activator Inhibitor

Browse Tocris compounds for CA2
10/46 Novoseek chemical compound relationships for CA2 gene (see all 46 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dansylamide	83.87	8	8557623 (3), 8340917 (1), 7696263 (1)
p-nitrophenyl acetate	80.40	1	15807537 (1)
zinc hydroxide	76.68	1	1974931 (1)
4-methylimidazole	76.39	2	12499545 (1)
667-coumate	76.04	5	14623540 (2), 15453828 (1), 12617909 (1)
bicarbonate	75.78	102	12933803 (8), 12372813 (6), 15499994 (5), 11606574 (4) (see all 39)
sulfamide	71.20	11	15771438 (3), 18363349 (2), 16759092 (2), 17627576 (2)
o-nitrophenyl acetate	66.96	1	10336637 (1)
zinc	65.70	64	10413479 (3), 8431430 (3), 7803385 (3), 9252341 (3) (see all 30)
cyanate	62.40	2	8441752 (1), 8265567 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CA2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CA2)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000067

Sigma-Aldrich siRNA and siRNA Panels for CA2

Sigma-Aldrich shRNA for CA2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000067

REFSEQ mRNAs for CA2 gene:

NM_000067.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000067

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000067
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000067
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000067

Additional cDNA sequence:

AK123309.1 AK312978.1 BC011949.1 BC035424.1 CR536526.1 CR541875.1 CR590312.1 CR591919.1

CR602161.1 CR603817.1 CR608877.1 CR613409.1 CR616325.1 J03037.1 M36532.1 Y00339.1

18 DOTS entries:

DT.95257530 DT.100674288 DT.100822205 DT.100727988 DT.415993 DT.101972566 DT.75155536 DT.100822203

DT.100822199 DT.121482821 DT.121482847 DT.121483012 DT.95257527 DT.99972405 DT.40301241 DT.95151518

DT.95257523 DT.99990999

24/401 AceView cDNA sequences (see all 401 ):

BU733726 BU657045 CD512171 CR613409 CR603817 AI888788 BM790206 CR541875

AA970529 AL546814 CD366242 BM790176 AL043639 BE048805 BQ016261 NM_000067

CR591919 AL043640 CA306895 BM702636 BU627001 AW294014 AW075795 BF196676

highest scoring ESTs for CA2:

AI991402 J03037 AA363515 AA363576 AA702901 AA765780 AA775664 AA863446 AA873353 AA970529

Unigene Cluster for CA2:

Carbonic anhydrase II

Hs.155097 [show with all ESTs]

Unigene Representative Sequence: AK123309

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CA2 (see all 6 )

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	·	8d
SP1:									-								-
SP2:									-
SP3:									-		-		-				-
SP4:
SP5:									-				-		-		-		-		-

About this scheme

ECgene alternative splicing isoforms for CA2

1 Ensembl transcript including schematic representation:

ENST00000285379

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CA2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CA2

¹ / ² / ³

4 probe-sets matching CA2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
40095_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.07	J03037	1.00	1.00	1.00	1
75200_r_at²^{, 3}	U95-D	1	0.94	1.00	0.99	0.94	AI991402	1.00	1.00	1.00	1
209301_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M36532	0.80	1.00	0.91	1
209301_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks CA2 for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: ATTTCAAGAT

SOURCE GeneReport for Unigene cluster: Hs.155097
Expression variation in blood from EXPOLDB for CA2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CA2 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CA2¹	--	carbonic anhydrase II	87.44(n) 88.08(a)	477928 XM_535117.2 XP_535117.2
chimpanzee (Pan troglodytes)	CA2¹	--	carbonic anhydrase II	99.62(n) 98.85(a)	450162 XM_519841.2 XP_519841.2
cow (Bos taurus)	CA2¹	--	carbonic anhydrase II	81.9(n) 81.25(a)	280740 NM_178572.2 NP_848667.1
rat (Rattus norvegicus)	Car2¹	--	carbonic anhydrase II	81.03(n) 80.77(a)	54231 NM_019291.1 NP_062164.1
mouse (Mus musculus)	Car2^{1, 5}	3 (10.50 cM)⁵	carbonic anhydrase 2^{1, 5}	81.03(n)¹ 80.77(a)¹	12349¹ NM_009801.3¹ NP_033931.3¹ AI131712⁵ AK002333⁵ (see all 25)

About this table Species with no ortholog for CA2

ENSEMBL Gene Tree for CA2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for CA2 gene

CA3² CA1² CA13²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/83 NCBI SNPs in CA2 are shown (see all 83 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 24)

AB	SNP ID	Valid	Chr 8 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2228063^1,2	C,F,H	86580241(+)	`TGAAGA/GACAGG`	1	N/D	mis¹ ese³		12	MN EU EA WA NA	1034
--	rs14914^1,2	C	86580752(+)	`taaagA/Gaaaac`	1	--	ut3¹		1	MN	184
--	rs703^1,2	C,F	86576655(-)	`ATCCAA/GGGATT`	1	L/L	syn¹		7	MN EU EA WA	2102
	rs6988475^1,2	A,C,F,H	86570520(+)	`ATGGCG/ATGTAG`	1	--	int¹		9	NA EU EA WA	740
	rs10504813^1,2	A,C,F,H	86578833(+)	`TGTAAC/TGAATC`	1	--	int¹		16	NS NA EU EA WA	1078
	rs11780942^1,2	A,C,F,H	86576447(+)	`TTTCTT/CTTTAT`	1	--	int¹		4	EU EA WA	418
	rs2307075^1,2	A,C,F,H	86575480(-)	`TTAAGG/TAATAT`	1	--	int¹		4	EU EA WA	418
	rs11777530^1,2	C,F,H	86576323(+)	`AATGGA/GGAATG`	1	--	int¹		4	EU EA WA	414
	rs6605618^1,2	C,F,H	86576838(+)	`AGAGAC/ACTGAG`	1	--	int¹		11	NA EU EA WA	980
	rs10504812^1,2	C,F,H	86578680(+)	`TGTGAT/CGCTAA`	1	--	int¹		16	NS EU EA WA NA	1078

About this table

HapMap Linkage Disequilibrium images for CA2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 611492 disorders: 259730

UniProtKB/Swiss-Prot: CAH2_HUMAN, P00918

Defects in CA2 are the cause of autosomal recessive osteopetrosis type 3 (OPTB3)

[MIM:259730]; also known as osteopetrosis with renal tubular acidosis, carbonic anhydrase II

deficiency syndrome, Guibaud-Vainsel syndrome or marble brain disease. Osteopetrosis is a rare

genetic disease characterized by abnormally dense bone, due to defective resorption of immature

bone. The disorder 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.

Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of

non-functional osteoclasts. OPTB3 is associated with renal tubular acidosis, cerebral

calcification (marble brain disease) and in some cases with mental retardation

10/56 Novoseek disease relationships for CA2 gene (see all 56 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
acidosis renal tubular	86.77	37	9525974 (3), 15300855 (3), 1959222 (2), 9323296 (2) (see all 20)
osteopetrosis	83.77	44	1959222 (3), 1566113 (3), 15300855 (3), 12566520 (2) (see all 25)
osteopetrosis, autosomal recessive	62.81	3	17936098 (1), 11045400 (1)
distal renal tubular acidosis	52.79	1	12566520 (1)
calcification	48.98	28	16825953 (2), 1959222 (2), 15300855 (2), 11264157 (2) (see all 15)
metabolic acidosis	39.02	2	8285209 (1), 15771438 (1)
glaucoma	37.74	8	9541386 (1), 10634490 (1), 2322152 (1), 11021544 (1) (see all 8)
biliary cirrhosis primary	34.89	12	7768386 (3), 11117577 (2), 15026266 (1), 17516290 (1) (see all 6)
chronic pancreatitis	34.57	9	15254347 (5), 8613065 (2), 15831920 (1)
sjogrens syndrome	33.99	10	15254347 (5), 8613065 (2), 7722336 (1), 15694905 (1)

About this table

Genatlas disease: CA2

osteopetrosis with renal tubular acidosis and cerebral calcifications

Human Gene Mutation Database: CA2
Human Genome Epidemiology Navigator: CA2 (16 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/393 PubMed articles for CA2 gene (see all 393 ):

Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA. (PubMed id 14736710)^{1, 3, 4} Loiselle F.B.... Casey J.R. (2004)
Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells. (PubMed id 15218065)^{1, 3, 4} Pushkin A.... Kurtz I. (2004)
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype- phenotype correlation. (PubMed id 15300855)^{1, 3, 4} Shah G.N.... Sly W.S. (2004)
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His-->Tyr): complete structure of the normal human CA II gene. (PubMed id 1928091)^{1, 3, 4} Venta P.J.... Tashian R.E. (1991)
Molecular basis of human carbonic anhydrase II deficiency. (PubMed id 1542674)^{1, 3, 4} Roth D.E.... Sly W.S. (1992)
Structural influence of hydrophobic core residues on metal binding and specificity in carbonic anhydrase II. (PubMed id 11076507)^{1, 3, 4} Cox J.D.... Christianson D.W. (2000)
Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter. (PubMed id 14567693)^{1, 3, 4} Alvarez B.V.... Casey J.R. (2003)
Structures of murine carbonic anhydrase IV and human carbonic anhydrase II complexed with brinzolamide: molecular basis of isozyme- drug discrimination. (PubMed id 9541386)^{1, 3, 4} Stams T.... Christianson D.W. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. (PubMed id 9143915)^{3, 4} Hu P.Y.... Sly W.S. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 760	HGNC: 1373	AceView: CA2	Ensembl:ENSG00000104267	euGenes: HUgn760
ECgene: CA2	H-InvDB: CA2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=CA2

Licensable Technologies for CA2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for CA2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for CA2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
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	Predesigned and custom siRNAs for CA2		Antibodies for CA2
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
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CA2 Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for CA2

Summaries
for CA2

Genomic Location
for CA2

Proteins
for CA2

Protein Domains/
Families
for CA2

Gene Function
for CA2

Pathways & Interactions
for CA2

Drugs & Compounds
for CA2

Transcripts
for CA2

Expression
for CA2

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CA2 Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor CA2

Summariesfor CA2

Genomic Locationfor CA2

Proteinsfor CA2

Protein Domains/Familiesfor CA2

Gene Functionfor CA2

Pathways & Interactionsfor CA2

Drugs & Compoundsfor CA2

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Expression for CA2

Orthologsfor CA2

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Medical Newsfor CA2

Publicationsfor CA2

Search for CA2

Genome Databases showing CA2

Other Databases showing CA2

Specialized Databases showing CA2

Licensable Technologiesfor CA2

Servicesfor CA2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CA2

Summaries
for CA2

Genomic Location
for CA2

Proteins
for CA2

Protein Domains/
Families
for CA2

Gene Function
for CA2

Pathways & Interactions
for CA2

Drugs & Compounds
for CA2

Transcripts
for CA2

Expression
for CA2

Orthologs
for CA2

Paralogs
for CA2

SNPs/Variants
for CA2

Disorders & Mutations
for CA2

Medical News
for CA2

Publications
for CA2

Licensable Technologies
for CA2

Services
for CA2