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mutLBSgeneDB |
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| Gene summary for CA4 |
 Gene summary |
| Basic gene Info. | Gene symbol | CA4 |
| Gene name | carbonic anhydrase IV | |
| Synonyms | CAIV|Car4|RP17 | |
| Cytomap | UCSC genome browser: 17q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000717.3, | |
| Description | CA-IVcarbonate dehydratase IVcarbonic anhydrase 4carbonic dehydratase IV | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 114760 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167434 | ||
| HPRD : 00261 | ||
| Vega : OTTHUMG00000179987 | ||
| Protein | UniProt: P22748 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CA4 | |
| BioGPS: 762 | ||
| Pathway | NCI Pathway Interaction Database: CA4 | |
| KEGG: CA4 | ||
| REACTOME: CA4 | ||
| Pathway Commons: CA4 | ||
| Context | iHOP: CA4 | |
| ligand binding site mutation search in PubMed: CA4 | ||
| UCL Cancer Institute: CA4 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for CA4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H115,H117 | L116M | COAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CA4 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | H115 | L116M | -1.4071867 | H117 | L116M | -1.4071867 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CA4 from PDB |
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| Differential gene expression and gene-gene network for CA4 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CA4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1833245 | Retinitis Pigmentosa 17 | 6 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CA4 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00232 | Methyclothiazide | Small molecule |  |
| Approved | DB00273 | Topiramate | Small molecule |  |
| Withdrawn | DB00311 | Ethoxzolamide | Small molecule |  |
| Approved | DB00436 | Bendroflumethiazide | Small molecule |  |
| Approved | DB00562 | Benzthiazide | Small molecule |  |
| Approved | DB00606 | Cyclothiazide | Small molecule |  |
| Approved | DB00703 | Methazolamide | Small molecule |  |
| Approved | DB00774 | Hydroflumethiazide | Small molecule |  |
| Approved|vet_approved | DB00819 | Acetazolamide | Small molecule |  |
| Approved | DB00869 | Dorzolamide | Small molecule |  |
| Approved|vet_approved | DB00880 | Chlorothiazide | Small molecule |  |
| Approved|investigational | DB00909 | Zonisamide | Small molecule |  |
| Approved|vet_approved | DB00999 | Hydrochlorothiazide | Small molecule |  |
| Approved|vet_approved | DB01021 | Trichlormethiazide | Small molecule |  |
| Approved | DB01144 | Diclofenamide | Small molecule |  |
| Approved | DB01194 | Brinzolamide | Small molecule |  |
| Investigational | DB08846 | Ellagic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CA4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of CA4 |
| Multiple alignments for P22748 in multiple species |
| LBS | AA sequence | # species | Species | G173 | FLVEAGTQVNE | 1 | Homo sapiens | G173 | FMIEVGDKVNK | 1 | Mus musculus | G173 | FMVEVGNEVNE | 1 | Rattus norvegicus | G173 | FMVEDGSK-NV | 1 | Bos taurus | H115 | QAKQLHLHWSD | 1 | Homo sapiens | H115 | EAVQLHLHWSN | 1 | Mus musculus | H115 | KAIQLHLHWSE | 1 | Rattus norvegicus | H115 | QATQLHLHWSR | 1 | Bos taurus | H117 | KQLHLHWSDLP | 1 | Homo sapiens | H117 | VQLHLHWSNGN | 1 | Mus musculus | H117 | IQLHLHWSEES | 1 | Rattus norvegicus | H117 | TQLHLHWSRAM | 1 | Bos taurus | H140 | FAMEMHIVHEK | 2 | Homo sapiens, Bos taurus | H140 | FAMEMHIVHKK | 1 | Mus musculus | H140 | FAMEMHVVHKK | 1 | Rattus norvegicus | H88 | VQNNGHSVMML | 1 | Homo sapiens | H88 | IKNNQHTVEMT | 1 | Mus musculus | H88 | VKNNQHSVEMS | 1 | Rattus norvegicus | H88 | VQNNGHTVMVL | 1 | Bos taurus | I163 | DPEDEIAVLAF | 1 | Homo sapiens | I163 | DSKDKFAVLAF | 1 | Mus musculus | I163 | DSKDKIAVLAF | 1 | Rattus norvegicus | I163 | FAEDEIAVLAF | 1 | Bos taurus | K112 | APYQAKQLHLH | 1 | Homo sapiens | K112 | ARYEAVQLHLH | 1 | Mus musculus | K112 | TQYKAIQLHLH | 1 | Rattus norvegicus | K112 | TRYQATQLHLH | 1 | Bos taurus | L224 | RYLGSLTTPTC | 2 | Homo sapiens, Bos taurus | L224 | RYNGSLTTPNC | 1 | Mus musculus | L224 | RYQGSLTTPGC | 1 | Rattus norvegicus | M91 | NGHSVMMLLEN | 1 | Homo sapiens | M91 | NQHTVEMTLGG | 1 | Mus musculus | M91 | NQHSVEMSLGE | 1 | Rattus norvegicus | M91 | NGHTVMVLLEN | 1 | Bos taurus | N177 | AGTQVNEGFQP | 1 | Homo sapiens | N177 | VGDKVNKGFQP | 1 | Mus musculus | N177 | VGNEVNEGFQP | 1 | Rattus norvegicus | N177 | DGSK-NVNFQP | 1 | Bos taurus | N86 | WTVQNNGHSVM | 1 | Homo sapiens | N86 | WPIKNNQHTVE | 1 | Mus musculus | N86 | WEVKNNQHSVE | 1 | Rattus norvegicus | N86 | WVVQNNGHTVM | 1 | Bos taurus | Q113 | PYQAKQLHLHW | 1 | Homo sapiens | Q113 | RYEAVQLHLHW | 1 | Mus musculus | Q113 | QYKAIQLHLHW | 1 | Rattus norvegicus | Q113 | RYQATQLHLHW | 1 | Bos taurus | Q175 | VEAGTQVNEGF | 1 | Homo sapiens | Q175 | IEVGDKVNKGF | 1 | Mus musculus | Q175 | VEVGNEVNEGF | 1 | Rattus norvegicus | Q175 | VEDGSK-NVNF | 1 | Bos taurus | Q243 | FREPIQLHREQ | 1 | Homo sapiens | Q243 | YKQPIKIHKNQ | 1 | Mus musculus | Q243 | FEEPIKIHKDQ | 1 | Rattus norvegicus | Q243 | FQKPIQLHRDQ | 1 | Bos taurus | S89 | QNNGHSVMMLL | 1 | Homo sapiens | S89 | KNNQHTVEMTL | 1 | Mus musculus | S89 | KNNQHSVEMSL | 1 | Rattus norvegicus | S89 | QNNGHTVMVLL | 1 | Bos taurus | T174 | LVEAGTQVNEG | 1 | Homo sapiens | T174 | MIEVGDKVNKG | 1 | Mus musculus | T174 | MVEVGNEVNEG | 1 | Rattus norvegicus | T174 | MVEDGSK-NVN | 1 | Bos taurus | T225 | YLGSLTTPTCD | 2 | Homo sapiens, Bos taurus | T225 | YNGSLTTPNCD | 1 | Mus musculus | T225 | YQGSLTTPGCD | 1 | Rattus norvegicus | T226 | LGSLTTPTCDE | 2 | Homo sapiens, Bos taurus | T226 | NGSLTTPNCDE | 1 | Mus musculus | T226 | QGSLTTPGCDE | 1 | Rattus norvegicus | V142 | MEMHIVHEKEK | 2 | Homo sapiens, Bos taurus | V142 | MEMHIVHKKL- | 1 | Mus musculus | V142 | MEMHVVHKKM- | 1 | Rattus norvegicus | V165 | EDEIAVLAFLV | 1 | Homo sapiens | V165 | KDKFAVLAFMI | 1 | Mus musculus | V165 | KDKIAVLAFMV | 1 | Rattus norvegicus | V165 | EDEIAVLAFMV | 1 | Bos taurus | W235 | DEKVVWTVFRE | 1 | Homo sapiens | W235 | DETVIWTVYKQ | 1 | Mus musculus | W235 | DETVIWTVFEE | 1 | Rattus norvegicus | W235 | DEKVVWTVFQK | 1 | Bos taurus | Y25 | ESHWCYEVQAE | 1 | Homo sapiens | Y25 | DSGWCYEIQTK | 1 | Mus musculus | Y25 | DSHWCYEIQAK | 1 | Rattus norvegicus | Y25 | ASHWCYQIQVK | 1 | Bos taurus |
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