Human Gene CA2 (ENST00000285379.10) from GENCODE V44
  Description: Homo sapiens carbonic anhydrase 2 (CA2), transcript variant 2, mRNA. (from RefSeq NM_001293675)
RefSeq Summary (NM_000067): 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].
Gencode Transcript: ENST00000285379.10
Gencode Gene: ENSG00000104267.10
Transcript (Including UTRs)
   Position: hg38 chr8:85,464,007-85,481,493 Size: 17,487 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr8:85,464,082-85,480,789 Size: 16,708 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:85,464,007-85,481,493)mRNA (may differ from genome)Protein (260 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CA2
Diseases sorted by gene-association score: osteopetrosis, autosomal recessive 3, with renal tubular acidosis* (1650), osteopetrosis (33), renal tubular acidosis (26), autoimmune pancreatitis (18), myxopapillary ependymoma (12), autoimmune retinopathy (12), retinal hemangioblastoma (11), fuhrmann syndrome (10), cholangitis (10), ocular hypertension (9), retinitis pigmentosa-40 (9), renal tubular acidosis, distal (9), proximal renal tubular acidosis (8), metabolic acidosis (8), dental abscess (6), neurogenic bowel (6), clear cell adenofibroma (6), 3p- syndrome (6), neuroretinitis (6), arrhythmogenic right ventricular dysplasia 5 (5), acute cor pulmonale (4), acute pulmonary heart disease (4), osteoporosis (4), miles-carpenter syndrome (4), pancreatic cancer (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 206.18 RPKM in Colon - Transverse
Total median expression: 1181.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.3075-0.284 Picture PostScript Text
3' UTR -154.60704-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  FJ224289 - Homo sapiens epididymis luminal protein 76 (HEL-76) mRNA, complete cds.
AF015039 - Homo sapiens carbonic anhydrase II (CA2) mRNA, 5' untranslated region.
AK312978 - Homo sapiens cDNA, FLJ93439, Homo sapiens carbonic anhydrase II (CA2), mRNA.
J03037 - Human carbonic anhydrase II mRNA, complete cds.
BC011949 - Homo sapiens carbonic anhydrase II, mRNA (cDNA clone MGC:9006 IMAGE:3863603), complete cds.
GQ472235 - Homo sapiens epididymis secretory protein Li 282 (HEL-S-282) mRNA, complete cds.
Y00339 - Human mRNA for carbonic anhydrase II (EC 4.2.1.1).
M36532 - Human carbonic anhydrase II mRNA, complete cds.
JD336562 - Sequence 317586 from Patent EP1572962.
DQ894504 - Synthetic construct Homo sapiens clone IMAGE:100008964; FLH263717.01L; RZPDo839E0899D carbonic anhydrase II (CA2) gene, encodes complete protein.
DQ891320 - Synthetic construct Homo sapiens clone IMAGE:100003950; FLH263569.01X; RZPDo839E08100D carbonic anhydrase II (CA2) gene, encodes complete protein.
AB591010 - Synthetic construct DNA, clone: pFN21AE1753, Homo sapiens CA2 gene for carbonic anhydrase II, without stop codon, in Flexi system.
CU680124 - Synthetic construct Homo sapiens gateway clone IMAGE:100018644 5' read CA2 mRNA.
KJ896525 - Synthetic construct Homo sapiens clone ccsbBroadEn_05919 CA2 gene, encodes complete protein.
CR541875 - Homo sapiens full open reading frame cDNA clone RZPDo834B0233D for gene CA2, carbonic anhydrase II; complete cds, without stopcodon.
CR536526 - Homo sapiens full open reading frame cDNA clone RZPDo834C0222D for gene CA2, carbonic anhydrase II; complete cds, incl. stopcodon.
BC035424 - Homo sapiens carbonic anhydrase II, mRNA (cDNA clone IMAGE:3860618).
AK123309 - Homo sapiens cDNA FLJ41315 fis, clone BRAMY2043069.
FW340046 - Screening.
S69526 - carbonic anhydrase II {clone pDRM12, exon 7} [human, leukocytes, mRNA Partial, 54 nt].
S69527 - carbonic anhydrase II {clone pHispa, exon 7} [human, Caribbean Hispanic patient, leukocytes, mRNA Partial Mutant, 53 nt].
JD053760 - Sequence 34784 from Patent EP1572962.
JD427406 - Sequence 408430 from Patent EP1572962.
JD225752 - Sequence 206776 from Patent EP1572962.
JD499795 - Sequence 480819 from Patent EP1572962.
JD299126 - Sequence 280150 from Patent EP1572962.
JD450699 - Sequence 431723 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00910 - Nitrogen metabolism
hsa04964 - Proximal tubule bicarbonate reclamation
hsa04966 - Collecting duct acid secretion

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000285379.1, ENST00000285379.2, ENST00000285379.3, ENST00000285379.4, ENST00000285379.5, ENST00000285379.6, ENST00000285379.7, ENST00000285379.8, ENST00000285379.9, NM_001293675, uc003ydk.1, uc003ydk.2, uc003ydk.3, uc003ydk.4, V9HW21
UCSC ID: ENST00000285379.10
RefSeq Accession: NM_000067
CCDS: CCDS6239.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.