Property Summary

NCBI Gene PubMed Count 48
PubMed Score 1407.67
PubTator Score 420.60

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Retinitis pigmentosa 17 1
Disease Target Count
Retinitis pigmentosa 156

Expression

  Differential Expression (26)

Disease log2 FC p
astrocytic glioma -1.400 7.4e-03
glioblastoma -1.500 5.8e-04
osteosarcoma -2.885 3.2e-06
medulloblastoma, large-cell -1.100 8.6e-03
primitive neuroectodermal tumor -1.100 1.7e-02
non-small cell lung cancer -4.176 6.8e-32
intraductal papillary-mucinous adenoma (... -1.900 5.2e-03
intraductal papillary-mucinous carcinoma... -1.800 2.7e-02
intraductal papillary-mucinous neoplasm ... -2.100 2.7e-02
lung cancer -2.300 1.9e-04
colon cancer -1.600 1.4e-05
pancreatic cancer -1.400 4.7e-04
interstitial cystitis -1.200 2.0e-03
lung adenocarcinoma -2.788 9.8e-22
pediatric high grade glioma -1.500 4.6e-04
group 3 medulloblastoma 3.300 1.2e-05
pilocytic astrocytoma -1.300 2.7e-04
subependymal giant cell astrocytoma -2.464 2.0e-02
lung carcinoma -1.300 5.8e-16
spina bifida 1.214 4.1e-02
gastric carcinoma -1.700 8.7e-03
ductal carcinoma in situ -3.300 2.1e-05
invasive ductal carcinoma -3.600 1.4e-04
ulcerative colitis -2.100 1.2e-04
pituitary cancer -1.200 2.5e-02
psoriasis -1.300 1.6e-17

Gene RIF (20)

PMID Text
24880201 Carbonic anhydrase 4 is lost in papillary thyroid carcinoma but not thyroid nodules
24338019 Coexpression of CAIV with MCT1 and MCT4 resulted in a significant increase in MCT transport activity.
24146379 Although CA IV has been shown to be active in mediating CO2 and HCO3 (-) transport in many important tissues like kidney and lung, and in isolated cells from brain and muscle, the gene for CA IV appears not to be essential.
23297198 membrane-associated CA IV contributes robust catalytic activity intracellularly, and this activity participates in regulating H(+) dynamics in the cytosol
23049597 The generation of CA III and IV autoantibodies, antioxidant enzymes, and cytokines might influence each other.
22021688 Two SNPs of carbonic anhydrase IV, which are responsible for amino acid changes, were found. The frequencies of these SNPs were not significantly different between the caries-free group and the group with caries
21680735 data suggest that extracellular membrane-bound CAIV, but not cytosolic CAII, augments transport activity of MCT2 in a non-catalytic manner, possibly by facilitating a proton pathway other than His-88
20801516 Observational study of genetic testing. (HuGE Navigator)
20626030 compared the subcellular localization and post-translational processing of wild-type (WT)- and retinitis pigmentosa 17 mutant-CAIV in three cell types
20450258 The results suggest that the expression level of carbonic anhydrase IV may be important to maintain retina function in retinitis pigmentosa.
20308551 renal injury inflicted by expression of human carbonic anhydrase IV folding mutants was markedly enhanced by haploinsufficiency of the endoplasmic reticulum cochaperone p58(IPK).
19211803 Apoptosis induced by the CA IV mutants could be prevented, at least partially, by treating the cells with dorzolamide, a CA inhibitor
18344446 CAIV p.R14W sequence variant found in one of the patients with Bothnia dystrophy phenotype is benign polymorphism in population of northern Sweden.
17881426 No mutation was found in the coding regions and intron-exon boundaries of the genes for CA II, CA IV, CA XIV, kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic DNA of family members with pRTA.
17652713 A novel mutation has been identified in CA4 that provides further evidence that impaired pH regulation may underlie photoreceptor degeneration in retinitis pigmentosa
17409381 characterized the CA IV expressed in Capan-1 cells
15563508 CA inhibitors may have long-term adverse effects on vision.
15090652 mutation was found to cosegregate with the retinitis pigmentosa RP17 phenotype in two large families
14567693 carbonic anhydrase IV binds EC4 of NBC1, and this interaction is essential for full NBC1 activity
11994299 binding by extracellular loop 4 of the human AE1 Cl-/HCO3- exchanger

AA Sequence

MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRF      1 - 70
FFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMH     71 - 140
IVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPK    141 - 210
EEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRT    211 - 280
VIKSGAPGRPLPWALPALLGPMLACLLAGFLR                                          281 - 312
//

Text Mined References (58)

PMID Year Title
24880201 2014 Carbonic anhydrase 4 and crystallin ?-B immunoreactivity may distinguish benign from malignant thyroid nodules in patients with indeterminate thyroid cytology.
24338019 2014 Intracellular and extracellular carbonic anhydrases cooperate non-enzymatically to enhance activity of monocarboxylate transporters.
24146379 2014 Membrane associated carbonic anhydrase IV (CA IV): a personal and historical perspective.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23297198 2013 GPI-anchored carbonic anhydrase IV displays both intra- and extracellular activity in cRNA-injected oocytes and in mouse neurons.
23049597 2012 Carbonic anhydrases III and IV autoantibodies in rheumatoid arthritis, systemic lupus erythematosus, diabetes, hypertensive renal disease, and heart failure.
22021688 Carbonic anhydrase VI exon 2 genetic polymorphism in Turkish subjects with low caries experience (preliminary study).
21680735 2011 Transport activity of the high-affinity monocarboxylate transporter MCT2 is enhanced by extracellular carbonic anhydrase IV but not by intracellular carbonic anhydrase II.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20626030 2010 Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17.
20458337 MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
20450258 2010 Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
20363633 2010 Thioether benzenesulfonamide inhibitors of carbonic anhydrases II and IV: structure-based drug design, synthesis, and biological evaluation.
20308551 2010 Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK.
19211803 2009 Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.
19206230 2009 Non-zinc mediated inhibition of carbonic anhydrases: coumarins are a new class of suicide inhibitors.
19186056 2009 A thiabendazole sulfonamide shows potent inhibitory activity against mammalian and nematode alpha-carbonic anhydrases.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18618712 2009 Crystal structure of human carbonic anhydrase XIII and its complex with the inhibitor acetazolamide.
18344446 2008 Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
17881426 2008 Familial pure proximal renal tubular acidosis--a clinical and genetic study.
17705204 2007 Saccharin inhibits carbonic anhydrases: possible explanation for its unpleasant metallic aftertaste.
17652713 2007 Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
17409381 2007 Expression and subcellular localization of a 35-kDa carbonic anhydrase IV in a human pancreatic ductal cell line (Capan-1).
17314045 2007 Phosph(on)ate as a zinc-binding group in metalloenzyme inhibitors: X-ray crystal structure of the antiviral drug foscarnet complexed to human carbonic anhydrase I.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17127057 2007 Carbonic anhydrase activators: L-Adrenaline plugs the active site entrance of isozyme II, activating better isoforms I, IV, VA, VII, and XIV.
16807956 2006 Carbonic anhydrase activators. Activation of isozymes I, II, IV, VA, VII, and XIV with l- and d-histidine and crystallographic analysis of their adducts with isoform II: engineering proton-transfer processes within the active site of an enzyme.
16686544 2006 Carbonic anhydrase activators. Activation of isoforms I, II, IV, VA, VII, and XIV with L- and D-phenylalanine and crystallographic analysis of their adducts with isozyme II: stereospecific recognition within the active site of an enzyme and its consequences for the drug design.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15563508 2005 Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15326289 2004 Identification and proteomic profiling of exosomes in human urine.
15090652 2004 Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14567693 2003 Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11994299 2002 The extracellular component of a transport metabolon. Extracellular loop 4 of the human AE1 Cl-/HCO3- exchanger binds carbonic anhydrase IV.
10231836 1999 Identification of carbonic anhydrase IV and VI mRNA expression in human pancreas and salivary glands.
10090333 1999 Carbonic anhydrase IV activity is localized on the exterior surface of human erythrocytes.
9632745 1998 Localization of carbonic anhydrase IV in rat and human heart muscle.
9385361 1997 Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.
8942978 1996 Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution.
8903383 1996 Membrane-bound carbonic anhydrase IV is expressed in the luminal plasma membrane of the human gallbladder epithelium.
8809084 1996 Carbonic anhydrase IV: purification of a secretory form of the recombinant human enzyme and identification of the positions and importance of its disulfide bonds.
8675662 1995 Carbonic anhydrase IV expression in rat and human gastrointestinal tract regional, cellular, and subcellular localization.
8325641 1993 Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q.
8064130 1994 Immunohistochemical localization of carbonic anhydrase IV in capillaries of rat and human skeletal muscle.
7672351 1995 Characterization of membrane bound carbonic anhydrase IV (CA IV) located on the external surface of lung pulmonary endothelial cells.
7625839 1995 Carbonic anhydrase IV: role of removal of C-terminal domain in glycosylphosphatidylinositol anchoring and realization of enzyme activity.
7581389 1995 An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
6811592 1982 Membrane-associated carbonic anhydrase purified from bovine lung.
2116168 1990 Membrane specific carbonic anhydrase (CAIV) expression in human tissues.
2111324 1990 Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney.
1901414 1991 Localization of carbonic anhydrase IV in a specific capillary bed of the human eye.
1311094 1992 Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes.