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| TissGeneSummary for SLC4A4 |
 Gene summary |
| Basic gene information | Gene symbol | SLC4A4 |
| Gene name | solute carrier family 4 (sodium bicarbonate cotransporter), member 4 | |
| Synonyms | HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|pNBC | |
| Cytomap | UCSC genome browser: 4q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001098484.2, NM_001134742.1,NM_003759.3, | |
| Description | Na(+)/HCO3(-) cotransporterelectrogenic sodium bicarbonate cotransporter 1kNBC1sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)solute carrier family 4, sodium bicarbonate cotrans | |
| Modification date | 20141218 | |
| dbXrefs | MIM : 603345 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000080493 | ||
| HPRD : 04516 | ||
| Vega : OTTHUMG00000129907 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SLC4A4 | |
| BioGPS: 8671 | ||
| Pathway | NCI Pathway Interaction Database: SLC4A4 | |
| KEGG: SLC4A4 | ||
| REACTOME: SLC4A4 | ||
| Pathway Commons: SLC4A4 | ||
| Context | iHOP: SLC4A4 | |
| ligand binding site mutation search in PubMed: SLC4A4 | ||
| UCL Cancer Institute: SLC4A4 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | KidneyPancreas | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHPAAD | |
| Reference showing the relevant tissue of SLC4A4 | ||
| Description by TissGene annotations | Cancer gene Have significant anti-correlated miRNA Fused withOncogene | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for SLC4A4 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LIHC | 1.368617888 | 2.985207888 | -1.61659 | 6.74E-08 | 4.97E-07 |
| LUSC | -1.762169603 | 2.153224515 | -3.915394118 | 3.96E-18 | 3.67E-17 |
| LUAD | 0.99283175 | 2.19781106 | -1.20497931 | 7.46E-07 | 2.55E-06 |
| KICH | -0.250788112 | 3.267603888 | -3.518392 | 5.03E-06 | 1.68E-05 |
| BRCA | -3.116386218 | -0.39860113 | -2.717785088 | 2.17E-20 | 1.60E-19 |
| THCA | -0.031125468 | 3.584189786 | -3.615315254 | 3.65E-20 | 1.44E-18 |
| COAD | -1.274840266 | 4.500155888 | -5.774996154 | 6.50E-12 | 1.36E-10 |
| HNSC | -4.380309229 | -1.488988298 | -2.89132093 | 6.55E-11 | 1.36E-09 |
| PRAD | 5.110561657 | 3.438415503 | 1.672146154 | 1.09E-07 | 1.01E-06 |
| BLCA | -3.347865165 | -0.72292306 | -2.624942105 | 0.000165 | 0.001652973 |
| Top |
| TissGene-miRNA for SLC4A4 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
| THYM | hsa-miR-497-5p | MIMAT0002820 | 0.0046 | -0.26 | 122 |
| ACC | hsa-miR-200c-3p | MIMAT0000617 | 0.026 | -0.27 | 78 |
| ACC | hsa-miR-200c-3p | MIMAT0000617 | 0.026 | -0.27 | 78 |
| UVM | hsa-miR-224-5p | MIMAT0000281 | 0.017 | -0.27 | 80 |
| UVM | hsa-miR-145-5p | MIMAT0000437 | 0.0056 | -0.31 | 80 |
| UCS | hsa-let-7c-5p | MIMAT0000064 | 0.015 | -0.33 | 56 |
| Top |
| TissGeneMut for SLC4A4 |
| TissGeneSNV for SLC4A4 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.R948C | UCEC | 2 |
| p.R510C | SKCM | 2 |
| p.A454G | HNSC | 1 |
| p.A465V | LGG | 1 |
| p.M893I | SKCM | 1 |
| p.G382R | SKCM | 1 |
| p.E98Q | HNSC | 1 |
| p.E90K | BRCA | 1 |
| p.S175Y | BLCA | 1 |
| p.K360N | KIRC | 1 |
| p.Q63* | LUAD | 1 |
| p.E1079Q | CESC | 1 |
| p.R554C | STAD | 1 |
| p.R280H | UCEC | 1 |
| p.D685N | SKCM | 1 |
| p.M1052V | KIRP | 1 |
| p.A435V | HNSC | 1 |
| p.W131G | SKCM | 1 |
| p.W516R | LGG | 1 |
| p.L769P | LGG | 1 |
| p.R582C | DLBC | 1 |
| p.E62D | UCEC | 1 |
| p.M31K | HNSC | 1 |
| p.N176K | HNSC | 1 |
| p.R390K | SKCM | 1 |
| p.F550L | HNSC | 1 |
| p.S219Y | BLCA | 1 |
| p.S1026I | HNSC | 1 |
| p.Q370K | READ | 1 |
| p.Y64C | SARC | 1 |
| p.P254S | SKCM | 1 |
| p.T887S | CESC | 1 |
| p.S810N | LGG | 1 |
| p.S213C | LUAD | 1 |
| p.S471L | LUSC | 1 |
| p.L999I | HNSC | 1 |
| p.R144I | UCEC | 1 |
| p.S1034P | BRCA | 1 |
| p.D422N | STAD | 1 |
| p.M849I | SKCM | 1 |
| p.F515C | UCEC | 1 |
| p.R42K | SKCM | 1 |
| p.G486* | LUAD | 1 |
| p.V770I | GBM | 1 |
| p.K814N | LUAD | 1 |
| p.R49Q | READ | 1 |
| p.V726I | BLCA | 1 |
| p.R322G | LIHC | 1 |
| p.G913R | LUSC | 1 |
| p.P1051L | SKCM | 1 |
| p.P202T | BLCA | 1 |
| p.S590Y | ESCA | 1 |
| p.T419M | COAD | 1 |
| p.P839Q | KIRP | 1 |
| p.S594* | HNSC | 1 |
| p.G32R | ESCA | 1 |
| p.C619F | HNSC | 1 |
| p.M1008V | KIRP | 1 |
| p.D598G | PRAD | 1 |
| p.P298S | SKCM | 1 |
| p.T49I | ESCA | 1 |
| p.E175V | KIRP | 1 |
| p.R493M | HNSC | 1 |
| p.P728L | THYM | 1 |
| p.P1004S | SKCM | 1 |
| p.M1005V | HNSC | 1 |
| p.L196F | UCEC | 1 |
| p.E392* | LUSC | 1 |
| p.S355A | HNSC | 1 |
| p.G530* | LUAD | 1 |
| p.G907R | HNSC | 1 |
| p.K407N | ACC | 1 |
| p.L666V | HNSC | 1 |
| p.N220K | HNSC | 1 |
| p.G120W | BRCA | 1 |
| p.A410G | HNSC | 1 |
| p.R607K | LIHC | 1 |
| p.M1049I | STAD | 1 |
| p.H430L | OV | 1 |
| p.R49* | LUAD | 1 |
| p.M931V | COAD | 1 |
| p.F656L | ACC | 1 |
| p.K451N | ACC | 1 |
| p.G424D | COAD | 1 |
| p.F939L | STAD | 1 |
| p.R210W | KIRP | 1 |
| p.Q936* | HNSC | 1 |
| p.L955I | HNSC | 1 |
| p.E328K | BLCA | 1 |
| p.L576F | LUAD | 1 |
| p.K229E | UCEC | 1 |
| p.S982I | HNSC | 1 |
| p.K451N | CESC | 1 |
| p.H421R | LUSC | 1 |
| p.K1011N | UCEC | 1 |
| p.M1005I | STAD | 1 |
| p.D449Y | READ | 1 |
| p.V682I | STAD | 1 |
| p.E673G | UCEC | 1 |
| p.Q892* | HNSC | 1 |
| p.S76F | LUAD | 1 |
| p.M664I | HNSC | 1 |
| p.R943C | OV | 1 |
| p.K404N | KIRC | 1 |
| p.K716E | SKCM | 1 |
| p.I126T | ACC | 1 |
| p.L882P | KIRP | 1 |
| p.S157R | BLCA | 1 |
| p.E54Q | HNSC | 1 |
| p.V243M | LUAD | 1 |
| p.V770I | BLCA | 1 |
| p.R43I | UCEC | 1 |
| p.S543N | UCEC | 1 |
| p.S179F | SKCM | 1 |
| p.D1048E | BRCA | 1 |
| p.M946I | SKCM | 1 |
| p.P733L | HNSC | 1 |
| p.D609H | LUSC | 1 |
| p.D306N | LUAD | 1 |
| p.S77C | LUAD | 1 |
| p.P864T | LIHC | 1 |
| p.G410R | GBM | 1 |
| p.S219Y | ESCA | 1 |
| p.N732K | HNSC | 1 |
| p.P895L | STAD | 1 |
| p.Q370* | MESO | 1 |
| p.P743S | SKCM | 1 |
| p.L777* | SARC | 1 |
| p.G426R | COAD | 1 |
| p.Q957H | LIHC | 1 |
| p.P795L | SKCM | 1 |
| p.G383E | SKCM | 1 |
| p.L794F | BLCA | 1 |
| p.A357T | STAD | 1 |
| p.H1037R | LUAD | 1 |
| p.L135F | HNSC | 1 |
| p.P743L | BLCA | 1 |
| p.R394Q | SKCM | 1 |
| p.T843S | CESC | 1 |
| p.V94A | ESCA | 1 |
| p.M1049V | HNSC | 1 |
| p.R554C | SKCM | 1 |
| p.S545F | SKCM | 1 |
| p.L523V | UCEC | 1 |
| p.E62* | LUSC | 1 |
| p.L642F | UCEC | 1 |
| p.L14P | LIHC | 1 |
| p.R441W | OV | 1 |
| p.P743L | HNSC | 1 |
| p.G863R | HNSC | 1 |
| p.D188N | UCEC | 1 |
| p.H51N | BRCA | 1 |
| p.E21* | CESC | 1 |
| p.S12F | LUAD | 1 |
| p.M371I | BLCA | 1 |
| p.L838F | BLCA | 1 |
| p.L532F | LUAD | 1 |
| p.T802I | SKCM | 1 |
| p.H377Y | SKCM | 1 |
| p.P1051S | SKCM | 1 |
| p.P787S | SKCM | 1 |
| p.R49* | BLCA | 1 |
| p.D342N | SKCM | 1 |
| p.A562T | UCEC | 1 |
| p.K48N | HNSC | 1 |
| p.T758I | SKCM | 1 |
| p.Q190K | ESCA | 1 |
| p.E392X | ESCA | 1 |
| p.V287M | STAD | 1 |
| p.S113R | BLCA | 1 |
| p.R346K | SKCM | 1 |
| p.E542G | LGG | 1 |
| p.R948C | COAD | 1 |
| p.P1078T | STAD | 1 |
| p.F700L | ACC | 1 |
| p.S79I | UCEC | 1 |
| p.D296V | UCEC | 1 |
| p.D880Y | HNSC | 1 |
| p.V770I | UCEC | 1 |
| p.A313T | STAD | 1 |
| p.R943C | COAD | 1 |
| p.D362Y | UCEC | 1 |
| p.D598N | HNSC | 1 |
| p.V243M | STAD | 1 |
| p.G512E | LUSC | 1 |
| p.D924Y | HNSC | 1 |
| p.N684I | DLBC | 1 |
| p.M185L | UCEC | 1 |
| p.R899L | LUAD | 1 |
| p.G635E | SKCM | 1 |
| p.G679E | SKCM | 1 |
| Top |
| TissGeneCNV for SLC4A4 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for SLC4A4 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | CK823810 | SLC4A4-PIGU | chr4:72437761 | chr20:33185380 | |
| Chimerdb3.0 | ChiTaRs | NA | BF924222 | SLC4A4-SLC4A4 | chr4:72332218 | chr4:72306404 | |
| Chimerdb3.0 | ChiTaRs | NA | W39298 | SLC4A4-SLC4A4 | chr4:72412211 | chr4:72413363 | |
| Chimerdb3.0 | ChiTaRs | NA | BM511213 | SLC4A4-PIGU | chr4:72437761 | chr20:33185422 | |
| Chimerdb3.0 | FusionScan | PRAD | TCGA-M7-A725-01A | SLC4A4-ARHGAP6 | In-Frame | chr4:72263370 | chrX:11272827 |
| Chimerdb3.0 | FusionScan | PRAD | TCGA-KK-A7AZ-01A | SLC4A4-C1orf135 | Out-of-Frame | chr4:72263370 | chr1:26162337 |
| TCGAfusionPortal | PRADA | BLCA | TCGA-DK-A1AC-01A | SLC4A4-TMPRSS11E | Out-of-frame | Chr4:72102366 | Chr4:69327539 |
| TCGAfusionPortal | PRADA | PRAD | TCGA-VP-A875-01A | SLC4A4-GOLGA4 | In-frame | Chr4:72413437 | Chr3:37396592 |
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| TissGeneNet for SLC4A4 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (tumor) | SLC4A4, PRKACA, SREBF2, SLC4A7, CA2, CA4 (normal) |
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| Top |
| TissGeneProg for SLC4A4 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Top |
| TissGeneClin for SLC4A4 |
| TissGeneDrug for SLC4A4 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for SLC4A4 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0268435 | Renal Tubular Acidosis, Type II | 24 | BeFree,MGD |
| umls:C0020538 | Hypertensive disease | 5 | BeFree,RGD |
| umls:C0086543 | Cataract | 4 | BeFree,CTD_human |
| umls:C0001126 | Renal tubular acidosis | 3 | CTD_human,LHGDN |
| umls:C0521707 | Bilateral cataracts (disorder) | 3 | BeFree |
| umls:C1970309 | Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | 3 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0017601 | Glaucoma | 2 | BeFree,CTD_human |
| umls:C0025362 | Mental Retardation | 2 | BeFree |
| umls:C0007134 | Renal Cell Carcinoma | 1 | LHGDN |
| umls:C0008073 | Developmental Disabilities | 1 | CTD_human |
| umls:C0010038 | Corneal Opacity | 1 | CTD_human |
| umls:C0010674 | Cystic Fibrosis | 1 | GAD |
| umls:C0028754 | Obesity | 1 | BeFree |
| umls:C0029454 | Osteopetrosis | 1 | BeFree |
| umls:C0035309 | Retinal Diseases | 1 | BeFree |
| umls:C0162283 | Nephrogenic Diabetes Insipidus | 1 | RGD |
| umls:C0524620 | Metabolic Syndrome X | 1 | BeFree |
| umls:C0595936 | Aqueous Humor Disorders | 1 | BeFree |
| umls:C1561549 | Glomerular filtration rate finding | 1 | GAD |
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