Gene Page: SLC4A1
Summary ?
| GeneID | 6521 |
| Symbol | SLC4A1 |
| Synonyms | AE1|BND3|CD233|CHC|DI|EMPB3|EPB3|FR|RTA1A|SAO|SPH4|SW|WD|WD1|WR |
| Description | solute carrier family 4 member 1 (Diego blood group) |
| Reference | MIM:109270|HGNC:HGNC:11027|Ensembl:ENSG00000004939|HPRD:00175|Vega:OTTHUMG00000156843 |
| Gene type | protein-coding |
| Map location | 17q21.31 |
| Pascal p-value | 0.033 |
| eGene | Cerebellar Hemisphere Myers' cis & trans |
| Support | ION BALANCE |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| Network | Shortest path distance of core genes in the Human protein-protein interaction network | Contribution to shortest path in PPI network: 0.061 |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs443832 | chr16 | 83779643 | SLC4A1 | 6521 | 0.17 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
Top co-expressed genes in brain regions
| Top 10 positively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| TYW3 | 0.78 | 0.54 |
| NECAB1 | 0.78 | 0.66 |
| SLC3A1 | 0.75 | 0.72 |
| GLIPR1 | 0.74 | 0.67 |
| EIF5A2 | 0.73 | 0.67 |
| NAPEPLD | 0.72 | 0.63 |
| FGFR1OP2 | 0.72 | 0.68 |
| ENPP4 | 0.72 | 0.67 |
| KRT222P | 0.72 | 0.73 |
| NCOA7 | 0.72 | 0.70 |
| Top 10 negatively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| TBC1D10A | -0.39 | -0.35 |
| OLFM2 | -0.39 | -0.34 |
| BCL7C | -0.34 | -0.43 |
| WDR86 | -0.34 | -0.40 |
| NME4 | -0.34 | -0.48 |
| SIGIRR | -0.34 | -0.45 |
| EMID1 | -0.34 | -0.38 |
| FADS2 | -0.34 | -0.31 |
| SEMA4B | -0.33 | -0.33 |
| EFEMP2 | -0.33 | -0.40 |
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0003674 | molecular_function | ND | - | |
| GO:0005515 | protein binding | IEA | - | |
| GO:0005515 | protein binding | IPI | 16669616 | |
| GO:0005452 | inorganic anion exchanger activity | IEA | - | |
| GO:0005215 | transporter activity | IEA | - | |
| GO:0008509 | anion transmembrane transporter activity | IEA | - | |
| GO:0008509 | anion transmembrane transporter activity | TAS | 4027230 | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0008150 | biological_process | ND | - | |
| GO:0006820 | anion transport | IEA | - | |
| GO:0006820 | anion transport | TAS | 4027230 | |
| GO:0006810 | transport | IEA | - | |
| GO:0006873 | cellular ion homeostasis | TAS | 8841202 | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0016020 | membrane | IEA | - | |
| GO:0016021 | integral to membrane | IEA | - | |
| GO:0016021 | integral to membrane | NAS | 1527044 | |
| GO:0005887 | integral to plasma membrane | TAS | 4027230 | |
| GO:0030863 | cortical cytoskeleton | IDA | 16669616 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES | 413 | 270 | All SZGR 2.0 genes in this pathway |
| REACTOME SLC MEDIATED TRANSMEMBRANE TRANSPORT | 241 | 157 | All SZGR 2.0 genes in this pathway |
| REACTOME TRANSPORT OF INORGANIC CATIONS ANIONS AND AMINO ACIDS OLIGOPEPTIDES | 94 | 65 | All SZGR 2.0 genes in this pathway |
| JAATINEN HEMATOPOIETIC STEM CELL DN | 226 | 132 | All SZGR 2.0 genes in this pathway |
| MARTORIATI MDM4 TARGETS FETAL LIVER DN | 514 | 319 | All SZGR 2.0 genes in this pathway |
| CEBALLOS TARGETS OF TP53 AND MYC DN | 38 | 31 | All SZGR 2.0 genes in this pathway |
| LIANG HEMATOPOIESIS STEM CELL NUMBER LARGE VS TINY DN | 45 | 24 | All SZGR 2.0 genes in this pathway |
| WELCH GATA1 TARGETS | 22 | 12 | All SZGR 2.0 genes in this pathway |
| GUO HEX TARGETS DN | 65 | 36 | All SZGR 2.0 genes in this pathway |
| IVANOVA HEMATOPOIESIS MATURE CELL | 293 | 160 | All SZGR 2.0 genes in this pathway |
| LEE AGING CEREBELLUM DN | 86 | 66 | All SZGR 2.0 genes in this pathway |
| KAYO AGING MUSCLE DN | 123 | 76 | All SZGR 2.0 genes in this pathway |
| RODWELL AGING KIDNEY DN | 145 | 88 | All SZGR 2.0 genes in this pathway |
| SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 | 419 | 273 | All SZGR 2.0 genes in this pathway |
| GOLDRATH ANTIGEN RESPONSE | 346 | 192 | All SZGR 2.0 genes in this pathway |
| YOSHIMURA MAPK8 TARGETS UP | 1305 | 895 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN MEF LCP WITH H3K27ME3 | 70 | 35 | All SZGR 2.0 genes in this pathway |
| KYNG WERNER SYNDROM AND NORMAL AGING UP | 93 | 62 | All SZGR 2.0 genes in this pathway |
| DANG REGULATED BY MYC DN | 253 | 192 | All SZGR 2.0 genes in this pathway |
| YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 2 | 86 | 50 | All SZGR 2.0 genes in this pathway |
| MARTENS TRETINOIN RESPONSE UP | 857 | 456 | All SZGR 2.0 genes in this pathway |
| STEINER ERYTHROCYTE MEMBRANE GENES | 15 | 10 | All SZGR 2.0 genes in this pathway |