ENSG00000004939
Homo sapiens | |
Features
| Gene ID: | ENSG00000004939 | | | | | Biological name : | SLC4A1 | | | | | Synonyms : | P02730 / SLC4A1 / solute carrier family 4 member 1 (Diego blood group) | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 17 | | Strand: | -1 | | Band: | q21.31 | | Gene start: | 44248385 | | Gene end: | 44268141 | | | | | Corresponding Affymetrix probe sets: | 1552713_a_at (Human Genome U133 Plus 2.0 Array) 205592_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000486787
Ensembl peptide - ENSP00000262418
Ensembl peptide - ENSP00000382190
NCBI entrez gene - 6521
See in Manteia.
OMIM - 109270
RefSeq - XM_011525130
RefSeq - NM_000342
RefSeq - XM_005257593
RefSeq - XM_011525129
RefSeq Peptide - NP_000333
swissprot - V9H0V9
swissprot - A0A0A0MS98
swissprot - P02730
Ensembl - ENSG00000004939
| | | | | Related genetic diseases (OMIM): | 185020 - Cryohydrocytosis, 185020 | | | 166900 - Ovalocytosis, SA type, 166900 | | | 179800 - Renal tubular acidosis, distal, AD, 179800 | | | 611590 - Renal tubular acidosis, distal, AR, 611590 | | | 612653 - Spherocytosis, type 4, 612653 | | | 110500 - [Blood group, Diego], 110500 | | | 601551 - [Blood group, Froese], 601551 | | | 601550 - [Blood group, Swann], 601550 | | | 112010 - [Blood group, Waldner], 112010 | | | 112050 - [Blood group, Wright], 112050 | | | 611162 - [Malaria, resistance to], 611162 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000121 | Nephrocalcinosis | |
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| | HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| | HP:0000980 | Pallor | |
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| | HP:0001254 | Lethargy | |
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| | HP:0001433 | Hepatosplenomegaly | |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0001878 | Hemolytic anemia | |
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| | HP:0001923 | Reticulocytosis | |
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| | HP:0001939 | Metabolism abnormality | |
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| | HP:0001942 | Metabolic acidosis | |
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| | HP:0001947 | Renal tubular acidosis | |
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| | HP:0002039 | Anorexia | |
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| | HP:0002748 | Rickets | |
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| | HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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| | HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| | HP:0002900 | Hypokalemia | |
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| | HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| | HP:0002904 | Hyperbilirubinemia | |
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| | HP:0003768 | Periodic paralysis | |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| | HP:0004444 | Spherocytosis | |
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| | HP:0004445 | Elliptocytosis | |
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| | HP:0004446 | Stomatocytosis | |
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| | HP:0004918 | hyperchloremic metabolic acidosis | |
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| | HP:0005502 | Increased red cell osmotic fragility | |
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| | HP:0008153 | Periodic hypokalemic paresis | |
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| | HP:0008341 | Renal tubular acidosis, type i | |
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| | HP:0008897 | Growth retardation, progressive | |
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| | HP:0025066 | Decreased mean corpuscular volume | "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." [] |
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| | HP:0030036 | Isothenuria | "Inability of the kidneys to produce either concentrated or dilute urine." [] |
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Interacting proteins (from Reactome)
| ENSG00000004939 | P02730 / SLC4A1 / solute carrier family 4 member 1 (Diego blood group) | / complex |
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