Human Gene CA2 (ENST00000285379.10_4) from GENCODE V47lift37
Description: carbonic anhydrase 2, transcript variant 2 (from RefSeq NM_001293675.2)
Gencode Transcript: ENST00000285379.10_4
Gencode Gene: ENSG00000104267.10_7
Transcript (Including UTRs)
Position: hg19 chr8:86,376,236-86,393,722 Size: 17,487 Total Exon Count: 7 Strand: +
Coding Region
Position: hg19 chr8:86,376,311-86,393,018 Size: 16,708 Coding Exon Count: 7
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Primer design for this transcript
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)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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.
Descriptions from all associated GenBank mRNAs
FJ224289 - Homo sapiens epididymis luminal protein 76 (HEL-76) mRNA, complete cds.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.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.AF015039 - Homo sapiens carbonic anhydrase II (CA2) mRNA, 5' untranslated region.JD336562 - Sequence 317586 from Patent EP1572962.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.
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, HEL-76 , NM_001293675, uc317khl.1, uc317khl.2, V9HW21, V9HW21_HUMANUCSC ID: ENST00000285379.10_4RefSeq Accession: NM_000067.3
Gene Model Information
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for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.