ENSMUSG00000017765


Mus musculus

Features
Gene ID: ENSMUSG00000017765
  
Biological name :Slc12a4
  
Synonyms : Q9JIS8 / Slc12a4 / solute carrier family 12, member 4
  
Possible biological names infered from orthology : Q9UP95
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: D3
Gene start: 105943590
Gene end: 105966097
  
Corresponding Affymetrix probe sets: 10581395 (MoGene1.0st)   1417446_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034370
Ensembl peptide - ENSMUSP00000112130
Ensembl peptide - ENSMUSP00000121018
NCBI entrez gene - 20498     See in Manteia.
MGI - MGI:1309465
RefSeq - XM_006530792
RefSeq - NM_001253804
RefSeq - NM_009195
RefSeq Peptide - NP_001240733
RefSeq Peptide - NP_033221
swissprot - F6TQE2
swissprot - Q3TWZ6
swissprot - F8WIJ0
swissprot - Q9JIS8
Ensembl - ENSMUSG00000017765
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc12a4ENSDARG00000014378Danio rerio
 SLC12A4ENSGALG00000034179Gallus gallus
 Q9UP95ENSG00000124067Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q924N4 / Slc12a6 / Solute carrier family 12 member 6 / Q9UHW9*ENSMUSG0000002713076
Gm21985 / Q9UHW9* / SLC12A6* / solute carrier family 12 member 6*ENSMUSG0000009676473
Q9WVL3 / Slc12a7 / solute carrier family 12, member 7 / Q9Y666*ENSMUSG0000001775669
Q91V14 / Slc12a5 / solute carrier family 12, member 5 / Q9H2X9*ENSMUSG0000001774069
Slc12a2 / solute carrier family 12 member 2 / P55011*ENSMUSG0000002459727
Slc12a1 / solute carrier family 12, member 1 / Q13621*ENSMUSG0000002720226
P59158 / Slc12a3 / Solute carrier family 12 member 3 / P55017*ENSMUSG0000003176625
Q99MR3 / Slc12a9 / Solute carrier family 12 member 9 / Q9BXP2*ENSMUSG0000003734421
Q8VI23 / Slc12a8 / solute carrier family 12 (potassium/chloride transporters), member 8 / A0AV02* / solute carrier family 12 member 8*ENSMUSG0000003550616


Protein motifs (from Interpro)
Interpro ID Name
 IPR000076  K/Cl co-transporter
 IPR000622  K/Cl co-transporter 1
 IPR004841  Amino acid permease/ SLC12A domain
 IPR004842  SLC12A transporter family
 IPR018491  SLC12A transporter, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0007268 chemical synaptic transmission IBA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005215 transporter activity IEA
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0015377 cation:chloride symporter activity IEA
 molecular_functionGO:0015379 potassium:chloride symporter activity IEA
 molecular_functionGO:0019901 protein kinase binding IEA


Pathways (from Reactome)
Pathway description
Cation-coupled Chloride cotransporters


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0001654 hepatic necrosis "pathologic death of cells within, or a portion of, the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0001860 liver inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0002295 abnormal pulmonary circulation "anomalous circulation of blood through the lungs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0002640 reticulocytosis "an increase in the number of reticulocytes in the blood" [J:78271, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0002703 abnormal renal tubules "anomalous structure or development of the loops of Henle and collecting ducts in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0002810 microcytic anemia "anemia in which the circulating erythrocyte corpuscular volume is smaller than normal" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm3(HBG1,HBB)Tow,Slc12a4Rbc10/Slc12a4Rbc10
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0002813 microcytosis "the presence of unusually small erythrocytes in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Slc13a4tm1d(EUCOMM)Wtsi/Slc13a4tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0003656 abnormal erythrocyte physiology "functional anomaly of the cells in the blood that carry oxygen, red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Slc13a4tm1d(EUCOMM)Wtsi/Slc13a4tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

 MP:0008387 hypochromic anemia "hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc13a4tm1d(EUCOMM)Wtsi/Slc13a4tm1d(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * CBA

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0011427 mesangial cell hyperplasia "increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft" [MGI:anna]
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Allelic Composition: Hbatm1(HBA)Tow/Hbatm1(HBA)Tow,Hbbtm2(HBG1,HBB*)Tow/Hbbtm2(HBG1,HBB*)Tow,Slc12a4Rbc10/Slc12a4+
Genetic Background: involves: 129 * BALB/c * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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