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Aliases for CA2 Gene

Aliases for CA2 Gene

  • Carbonic Anhydrase 2 2 3 5
  • Carbonic Anhydrase II 2 3 4
  • Carbonate Dehydratase II 3 4
  • Carbonic Anhydrase C 3 4
  • EC 4.2.1.1 4 61
  • CA-II 3 4
  • CAC 3 4
  • Epididymis Secretory Protein Li 282 3
  • Epididymis Luminal Protein 76 3
  • Carbonic Anhydrase B 3
  • Carbonic Dehydratase 3
  • HEL-S-282 3
  • HEL-76 3
  • CAII 3
  • Car2 3

External Ids for CA2 Gene

Previous GeneCards Identifiers for CA2 Gene

  • GC08P085200
  • GC08P086333
  • GC08P086156
  • GC08P086450
  • GC08P086563
  • GC08P081870
  • GC08P086376

Summaries for CA2 Gene

Entrez Gene Summary for CA2 Gene

  • 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]

GeneCards Summary for CA2 Gene

CA2 (Carbonic Anhydrase 2) is a Protein Coding gene. Diseases associated with CA2 include Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis and Osteopetrosis. Among its related pathways are Nitrogen metabolism and Erythrocytes take up carbon dioxide and release oxygen. GO annotations related to this gene include carbonate dehydratase activity and arylesterase activity. An important paralog of this gene is CA13.

UniProtKB/Swiss-Prot for CA2 Gene

  • 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.

Tocris Summary for CA2 Gene

  • Carbonic anhydrases (EC 4.2.1.1) are zinc-containing enzymes belonging to the lyases family, and are primarily responsible for catalyzing the reversible hydration of carbon dioxide to form bicarbonate (HCO3-) and hydrogen (H+) ions.

Gene Wiki entry for CA2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA2 Gene

Genomics for CA2 Gene

Regulatory Elements for CA2 Gene

Enhancers for CA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G085958 1.3 ENCODE dbSUPER 10.5 +495.7 495672 2.4 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 FOS JUNB NCOA1 CA3-AS1 CA2 ATP6V0D2 LOC105375622
GH08G086108 1.2 Ensembl ENCODE 9.3 +645.0 644960 1.2 PKNOX1 FOXA2 ATF1 GATA2 FOS ZHX2 TSHZ1 ZNF579 MEF2D MBD2 SLC7A13 WWP1 LOC105375624 CA2 CA3-AS1 PSKH2 ENSG00000253675
GH08G085999 1.1 ENCODE dbSUPER 9.8 +538.2 538157 4.9 GTF2F1 PKNOX1 MXI1 JUN MAX CHD7 CEBPG RAD21 RFX5 CTBP1 PSKH2 CA3-AS1 CA2 CA1 RPL36AP31 ATP6V0D2
GH08G085437 0.9 Ensembl ENCODE 11.4 -25.7 -25718 1.7 PKNOX1 SUZ12 TEAD4 REST RAD21 YY1 GATA3 JUND PRDM6 KDM1A CA3-AS1 CA2 CA1 LRRCC1 GC08P085382
GH08G085973 0.9 ENCODE dbSUPER 11 +509.7 509705 0.1 CTCF ZNF654 REST RAD21 CHAMP1 JUND SMC3 HNF4G HNF4A MIXL1 CA2 CA3-AS1 ATP6V0D2 LOC105375622
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CA2 on UCSC Golden Path with GeneCards custom track

Promoters for CA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000226529 148 1601 ARID4B SIN3A ZNF48 YY1 CBX5 ZNF143 SP3 REST KAT8 ZNF579
ENSR00000332064 1248 201 EZH2

Genomic Location for CA2 Gene

Chromosome:
8
Start:
85,463,852 bp from pter
End:
85,481,493 bp from pter
Size:
17,642 bases
Orientation:
Plus strand

Genomic View for CA2 Gene

Genes around CA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA2 Gene

Proteins for CA2 Gene

  • Protein details for CA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00918-CAH2_HUMAN
    Recommended name:
    Carbonic anhydrase 2
    Protein Accession:
    P00918
    Secondary Accessions:
    • B2R7G8
    • Q6FI12
    • Q96ET9

    Protein attributes for CA2 Gene

    Size:
    260 amino acids
    Molecular mass:
    29246 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Quaternary structure:
    • Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity. Interacts with SLC26A6 isoform 4 (via C-terminus cytoplasmic domain).
    Miscellaneous:
    • Target of drugs used in treatments against glaucoma disorder and breast cancer.

    Three dimensional structures from OCA and Proteopedia for CA2 Gene

neXtProt entry for CA2 Gene

Selected DME Specific Peptides for CA2 Gene

P00918:
  • MVDNWRP
  • HNGPEHWH
  • ELHLVHWN
  • QFHFHWG
  • AELHLVH
  • GSLTTPPL
  • TYPGSLT

Post-translational modifications for CA2 Gene

  • Ubiquitination at Lys18, posLast=3939, Lys45, Lys80, posLast=158158, and posLast=224224
  • Modification sites at PhosphoSitePlus

Other Protein References for CA2 Gene

Antibody Products

  • R&D Systems Antibodies for CA2 (Carbonic Anhydrase II/CA2)
  • Cell Signaling Technology (CST) Antibodies for CA2 (CA2)

Protein Products

Domains & Families for CA2 Gene

Gene Families for CA2 Gene

Suggested Antigen Peptide Sequences for CA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00918

UniProtKB/Swiss-Prot:

CAH2_HUMAN :
  • Belongs to the alpha-carbonic anhydrase family.
Family:
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA2: view

Function for CA2 Gene

Molecular function for CA2 Gene

GENATLAS Biochemistry:
carbonic anhydrase II,cytosolic,ubiquitous
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Absorption: Abs(max)=~550 nm {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308}; Note=At pH 7.0. Shows a second maximum at 618 nm.; Kinetic parameters: KM=10 mM for CO(2) {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308}; KM=82 mM for H(2)CO(3) {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308}; KM=3 mM for 4-nitrophenyl acetate {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308}; pH dependence: Optimum pH is 6-8. {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308};
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by X-ray, histamine, L-adrenaline, L- and D-phenylalanine, L- and D-histidine, L-His-OMe and beta-Ala-His (carnosine). Competitively inhibited by saccharin, thioxolone, coumarins, 667-coumate, celecoxib (Celebrex), valdecoxib (Bextra), SC-125, SC-560, diclofenac, acetate, azide, bromide, sulfonamide derivatives such as acetazolamide (AZA), methazolamide (MZA), ethoxzolamide (EZA), dichlorophenamide (DCP), brinzolamide, dansylamide, thiabendazole-5-sulfonamide, trifluoromethane sulfonamide and N-hydroxysulfamide, fructose-based sugar sulfamate RWJ-37497, and Foscarnet (phosphonoformate trisodium salt). Repressed strongly by hydrogen sulfide(HS) and weakly by nitrate (NO(3)). Esterase activity weakly reduced by cyanamide. N-hydroxyurea interfers with zinc binding and inhibit activity.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for CA2 Gene

Gene Ontology (GO) - Molecular Function for CA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004064 arylesterase activity IMP 3126084
GO:0004089 carbonate dehydratase activity IMP,TAS --
GO:0005515 protein binding IPI 15990874
GO:0008270 zinc ion binding IDA 3151020
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with CA2: view
genes like me logo Genes that share phenotypes with CA2: view

Human Phenotype Ontology for CA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CA2 Gene

MGI Knock Outs for CA2:
  • Car2 tm1(KOMP)Vlcg

Animal Model Products

miRNA for CA2 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CA2

No data available for Transcription Factor Targets and HOMER Transcription for CA2 Gene

Localization for CA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA2 Gene

Cytoplasm. Cell membrane. Note=Colocalized with SLC26A6 at the surface of the cell membrane in order to form a bicarbonate transport metabolon. Displaced from the cytosolic surface of the cell membrane by PKC in phorbol myristate acetate (PMA)-induced cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CA2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA,IDA 114507
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,IEA 15990874
GO:0005902 microvillus IEA --
genes like me logo Genes that share ontologies with CA2: view

Pathways & Interactions for CA2 Gene

genes like me logo Genes that share pathways with CA2: view

Gene Ontology (GO) - Biological Process for CA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0002009 morphogenesis of an epithelium IEA --
GO:0006730 one-carbon metabolic process IEA --
GO:0009268 response to pH IEA --
GO:0010033 response to organic substance IEA --
genes like me logo Genes that share ontologies with CA2: view

No data available for SIGNOR curated interactions for CA2 Gene

Drugs & Compounds for CA2 Gene

(136) Drugs for CA2 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Brinzolamide Approved Pharma inhibitor, Target CA II inhibitor 61
Topiramate Approved Pharma antagonist, Target, inhibitor GluR5 receptor antagonist,anticonvulsant, GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 249
Chlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor, inhibitor, Target Carbonic anhydrase inhibitor 7
Acetazolamide Approved, Vet_approved Pharma inhibitor, Target 80
Methazolamide Approved Pharma Target, inhibitor Carbonic anhydrase inhibitor 7

(45) Additional Compounds for CA2 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
S4
1330061-67-0

(2) Tocris Compounds for CA2 Gene

Compound Action Cas Number
S4 High affinity and selective CA IX and CA XII inhibitor 1330061-67-0
U 104 Potent carbonic anhydrase (CA) IX and XII inhibitor 178606-66-1

(7) ApexBio Compounds for CA2 Gene

Compound Action Cas Number
Brinzolamide CA II inhibitor 138890-62-7
Chlorothiazide Carbonic anhydrase inhibitor 58-94-6
Dichlorphenamide 120-97-8
Dorzolamide HCl Carbonic anhydrase inhibitor 130693-82-2
Methazolamide Carbonic anhydrase inhibitor 554-57-4
Topiramate GluR5 receptor antagonist,anticonvulsant 97240-79-4
U-104 CAIX inhibitor 178606-66-1
genes like me logo Genes that share compounds with CA2: view

Drug Products

Transcripts for CA2 Gene

Unigene Clusters for CA2 Gene

Carbonic anhydrase II:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CA2

Alternative Splicing Database (ASD) splice patterns (SP) for CA2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
SP1: - -
SP2: -
SP3: - - - -
SP4:
SP5: - - - - - -
SP6:

Relevant External Links for CA2 Gene

GeneLoc Exon Structure for
CA2
ECgene alternative splicing isoforms for
CA2

Expression for CA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CA2 Gene

mRNA differential expression in normal tissues according to GTEx for CA2 Gene

This gene is overexpressed in Colon - Transverse (x9.4) and Stomach (x7.4).

Protein differential expression in normal tissues from HIPED for CA2 Gene

This gene is overexpressed in Retina (14.8) and Salivary gland (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of CA2 Gene:

CA2

SOURCE GeneReport for Unigene cluster for CA2 Gene:

Hs.155097

Evidence on tissue expression from TISSUES for CA2 Gene

  • Blood(4.6)
  • Liver(4.6)
  • Nervous system(4.4)
  • Intestine(4.3)
  • Kidney(4.1)
  • Stomach(3.4)
  • Bone marrow(2.9)
  • Eye(2.8)
  • Heart(2.7)
  • Lung(2.7)
  • Muscle(2.6)
  • Pancreas(2.6)
  • Skin(2.6)
  • Gall bladder(2.4)
  • Bone(2.1)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
  • pancreas
  • spleen
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CA2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CA2 Gene

Orthologs for CA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CA2 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia CA2 34 35
  • 87.44 (n)
cow
(Bos Taurus)
Mammalia CA2 34 35
  • 81.84 (n)
mouse
(Mus musculus)
Mammalia Car2 34 16 35
  • 81.79 (n)
rat
(Rattus norvegicus)
Mammalia Car2 34
  • 81.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CA2 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 60 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves CA2 34 35
  • 72.18 (n)
lizard
(Anolis carolinensis)
Reptilia CA2 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ca2 34
  • 64.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia ca2-prov 34
zebrafish
(Danio rerio)
Actinopterygii cahz 34 35
  • 63 (a)
ca2 35
  • 62 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH1 36 35
  • 45 (a)
CG6906 36
  • 36 (a)
CG11284 36
  • 35 (a)
CG6074 36
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea cah-3 36
  • 35 (a)
Species where no ortholog for CA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CA2 Gene

ENSEMBL:
Gene Tree for CA2 (if available)
TreeFam:
Gene Tree for CA2 (if available)

Paralogs for CA2 Gene

Paralogs for CA2 Gene

(17) SIMAP similar genes for CA2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CA2: view

Variants for CA2 Gene

Sequence variations from dbSNP and Humsavar for CA2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs118203933 Pathogenic, Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] 85,473,779(+) CAGAG(C/T)ATACT intron-variant, reference, missense
VAR_001381 Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
VAR_021009 Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
VAR_021010 Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
rs118203931 Pathogenic 85,465,289(+) GGCAT(A/C/G)AGGAC upstream-variant-2KB, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CA2 Gene

Variant ID Type Subtype PubMed ID
esv2761206 CNV gain 21179565
nsv1028148 CNV gain 25217958
nsv483126 CNV gain+loss 15286789
nsv831377 CNV gain 17160897

Variation tolerance for CA2 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CA2 Gene

Human Gene Mutation Database (HGMD)
CA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA2 Gene

Disorders for CA2 Gene

MalaCards: The human disease database

(28) MalaCards diseases for CA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 3, with renal tubular acidosis
  • osteopetrosis, autosomal recessive 3
osteopetrosis
  • albers-schonberg osteopetrosis
autoimmune pancreatitis
  • aip
renal tubular acidosis
  • acidosis renal tubular
autoimmune retinopathy
- elite association - COSMIC cancer census association via MalaCards
Search CA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAH2_HUMAN
  • 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.

Genatlas disease for CA2 Gene

osteopetrosis with renal tubular acidosis and cerebral calcifications

Relevant External Links for CA2

Genetic Association Database (GAD)
CA2
Human Genome Epidemiology (HuGE) Navigator
CA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CA2
genes like me logo Genes that share disorders with CA2: view

Publications for CA2 Gene

  1. Structures of murine carbonic anhydrase IV and human carbonic anhydrase II complexed with brinzolamide: molecular basis of isozyme- drug discrimination. (PMID: 9541386) Stams T. … Christianson D.W. (Protein Sci. 1998) 3 4 22 25 64
  2. Apo-human carbonic anhydrase II revisited: implications of the loss of a metal in protein structure, stability, and solvent network. (PMID: 19583303) Avvaru B.S. … McKenna R. (Biochemistry 2009) 3 4 22 64
  3. Role of hydrophilic residues in proton transfer during catalysis by human carbonic anhydrase II. (PMID: 18942852) Zheng J. … Silverman D.N. (Biochemistry 2008) 3 4 22 64
  4. Atomic crystal and molecular dynamics simulation structures of human carbonic anhydrase II: insights into the proton transfer mechanism. (PMID: 17319692) Fisher S.Z. … McKenna R. (Biochemistry 2007) 3 4 22 64
  5. Crystal structure of human carbonic anhydrase II at 1.95 A resolution in complex with 667-coumate, a novel anti-cancer agent. (PMID: 15453828) Lloyd M.D. … Potter B.V. (Biochem. J. 2005) 3 4 22 64

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