ENSMUSG00000040918


Mus musculus

Features
Gene ID: ENSMUSG00000040918
  
Biological name :Slc19a2
  
Synonyms : Q9EQN9 / Slc19a2 / Thiamine transporter 1
  
Possible biological names infered from orthology : O60779 / solute carrier family 19 member 2
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: H2.2
Gene start: 164249046
Gene end: 164265385
  
Corresponding Affymetrix probe sets: 10351259 (MoGene1.0st)   1417902_at (Mouse Genome 430 2.0 Array)   1426117_a_at (Mouse Genome 430 2.0 Array)   1441315_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000131327
Ensembl peptide - ENSMUSP00000037561
Ensembl peptide - ENSMUSP00000123870
NCBI entrez gene - 116914     See in Manteia.
MGI - MGI:1928761
RefSeq - NM_001276455
RefSeq - NM_054087
RefSeq Peptide - NP_001263384
RefSeq Peptide - NP_473428
swissprot - E9Q2R3
swissprot - Q9EQN9
Ensembl - ENSMUSG00000040918
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc19a2ENSDARG00000059712Danio rerio
 SLC19A2ENSGALG00000015218Gallus gallus
 O60779ENSG00000117479Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q99PL8 / Slc19a3 / Thiamine transporter 2 / Q9BZV2* / solute carrier family 19 member 3*ENSMUSG0000003849646
P41438 / Slc19a1 / solute carrier family 19 (folate transporter), member 1 / P41440* / solute carrier family 19 member 1*ENSMUSG0000000143634


Protein motifs (from Interpro)
Interpro ID Name
 IPR002666  Reduced folate carrier
 IPR028338  Thiamine transporter 1
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0015888 thiamine transport IDA
 biological_processGO:0051180 vitamin transport IEA
 biological_processGO:0071934 thiamine transmembrane transport IMP
 cellular_componentGO:0005886 plasma membrane IC
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0015234 thiamine transmembrane transporter activity IMP
 molecular_functionGO:0090482 vitamin transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Vitamin B1 (thiamin) metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000245 abnormal erythropoiesis "atypical process of red blood cell formation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Dusp9tm1Skey/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001601 abnormal myelopoiesis "atypical process of bone marrow cell formation and/or bone marrow-derived blood cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:tc]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 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: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002123 abnormal hematopoiesis "abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002160 abnormal reproductive system morphology "structural or developmental anomaly of any of the tissues involved in the reproductive system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002727 decreased circulating insulin level "less than normal levels of insulin in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002875 decreased erythrocyte count "reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0002891 increased insulin sensitivity "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:Rat Genome Database submission]
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Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0004736 abnormal distortion product otoacoustic emission "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http://www.emedicine.com/ent/topic372.htm, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0004740 sensorineural hearing loss "a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005159 azoospermia "absence of living spermatozoa " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005505 increased platelet count "greater than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008261 arrest of male meiosis "cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tiam1tm1Jgc/Tiam1+
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0009763 increased sensitivity to induced morbidity/mortality "decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Slc19a2tm1Ejn/Slc19a2tm1Ejn
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

  


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






 

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