ENSMUSG00000021983


Mus musculus

Features
Gene ID: ENSMUSG00000021983
  
Biological name :Atp8a2
  
Synonyms : Atp8a2 / P98200 / Phospholipid-transporting ATPase IB
  
Possible biological names infered from orthology : ATPase phospholipid transporting 8A2 / Q9NTI2
  
Species: Mus musculus
  
Chr. number: 14
Strand: -1
Band: D1
Gene start: 59638540
Gene end: 60197179
  
Corresponding Affymetrix probe sets: 10420532 (MoGene1.0st)   1431953_at (Mouse Genome 430 2.0 Array)   1440627_at (Mouse Genome 430 2.0 Array)   1444696_at (Mouse Genome 430 2.0 Array)   1458544_at (Mouse Genome 430 2.0 Array)   1460294_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000079238
Ensembl peptide - ENSMUSP00000122078
Ensembl peptide - ENSMUSP00000121469
Ensembl peptide - ENSMUSP00000119395
Ensembl peptide - ENSMUSP00000115592
NCBI entrez gene - 50769     See in Manteia.
MGI - MGI:1354710
RefSeq - XM_017316077
RefSeq - XM_006519236
RefSeq - XM_006519232
RefSeq - NM_015803
RefSeq - XM_006519234
RefSeq - XM_006519235
RefSeq Peptide - NP_056618
swissprot - P98200
swissprot - E9Q8X4
swissprot - D3Z1A2
swissprot - D3Z2Z6
swissprot - D6RG72
Ensembl - ENSMUSG00000021983
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atp8a2ENSDARG00000077492Danio rerio
 ATP8A2ENSGALG00000017106Gallus gallus
 ATP8A2ENSG00000132932Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Atp8a1 / P70704 / Phospholipid-transporting ATPase IA / Q9Y2Q0* / ATPase phospholipid transporting 8A1*ENSMUSG0000003768568
Atp8b4 / ATPase, class I, type 8B, member 4 / Q8TF62* / ATPase phospholipid transporting 8B4 (putative)*ENSMUSG0000006013140
Atp8b2 / P98199 / Phospholipid-transporting ATPase ID / P98198* / ATPase phospholipid transporting 8B2*ENSMUSG0000006067140
Atp8b1 / Q148W0 / Phospholipid-transporting ATPase IC / O43520* / ATPase phospholipid transporting 8B1*ENSMUSG0000003952939
A3FIN4 / Atp8b5 / Phospholipid-transporting ATPase FetA ENSMUSG0000002845738
Atp10a / O54827 / Probable phospholipid-transporting ATPase VA / O60312* / ATPase phospholipid transporting 10A (putative)*ENSMUSG0000002532435
Atp11b / ATPase, class VI, type 11B / Q9Y2G3* / ATPase phospholipid transporting 11B (putative)*ENSMUSG0000003740034
Atp11a / P98197 / Probable phospholipid-transporting ATPase IH / P98196* / ATPase phospholipid transporting 11A*ENSMUSG0000003144134
Atp11c / Q9QZW0 / Phospholipid-transporting ATPase 11C / Q8NB49* / ATPase phospholipid transporting 11C*ENSMUSG0000006294932


Protein motifs (from Interpro)
Interpro ID Name
 IPR001757  P-type ATPase
 IPR006539  P-type ATPase, subfamily IV
 IPR008250  P-type ATPase, A domain superfamily
 IPR018303  P-type ATPase, phosphorylation site
 IPR023214  HAD superfamily
 IPR023298  P-type ATPase, transmembrane domain superfamily
 IPR023299  P-type ATPase, cytoplasmic domain N
 IPR032630  P-type ATPase, C-terminal
 IPR032631  P-type ATPase, N-terminal
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003011 involuntary skeletal muscle contraction IMP
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0007409 axonogenesis IMP
 biological_processGO:0007568 aging IMP
 biological_processGO:0010842 retina layer formation IMP
 biological_processGO:0010976 positive regulation of neuron projection development IDA
 biological_processGO:0010996 response to auditory stimulus IMP
 biological_processGO:0015914 phospholipid transport IEA
 biological_processGO:0031175 neuron projection development IEA
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0042472 inner ear morphogenesis IMP
 biological_processGO:0042755 eating behavior IMP
 biological_processGO:0043588 skin development IMP
 biological_processGO:0045332 phospholipid translocation IEA
 biological_processGO:0048666 neuron development IMP
 biological_processGO:0050884 neuromuscular process controlling posture IMP
 biological_processGO:0050908 detection of light stimulus involved in visual perception IMP
 biological_processGO:0060052 neurofilament cytoskeleton organization IMP
 biological_processGO:0061092 positive regulation of phospholipid translocation IDA
 cellular_componentGO:0001750 photoreceptor outer segment IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000287 magnesium ion binding IEA
 molecular_functionGO:0004012 phospholipid-translocating ATPase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Ion transport by P-type ATPases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000189 hypoglycemia "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

 MP:0000479 abnormal intestinal cell "anomalous structure or development of the cells comprising the intestine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Trove2tm1Woln/Trove2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

Allelic Composition: Atp8a2wl/Atp8a2+
Genetic Background: Not Specified

Allelic Composition: Atp8a2wl-3J/Atp8a2wl-3J
Genetic Background: CBA/J-Atp8a2wl-3J/J

 MP:0000938 motor neuron degeneration "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Il6tm1Kopf/Il6tm1Kopf,Inpp5dtm1Rkh/Inpp5dtm1Rkh
Genetic Background: involves: 129 * C57BL/6

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: involves: C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Trove2tm1Woln/Trove2+
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

Allelic Composition: Atp8a2wl/Atp8a2+
Genetic Background: Not Specified

Allelic Composition: Atp8a2wl-3J/Atp8a2wl-3J
Genetic Background: CBA/J-Atp8a2wl-3J/J

Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Atp8a2agil-2J/Atp8a2agil-2J
Genetic Background: AKR/J-Atp8a2agil-2J/J

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

 MP:0001431 abnormal eating behavior "inability to consume or atypical consumption pattern" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:19212]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0001486 abnormal startle reflex "abberant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
Show

Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
Show

Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Atp8a2agil-2J/Atp8a2agil-2J
Genetic Background: AKR/J-Atp8a2agil-2J/J

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mbpshi-mld+/Mbpshi-mld+
Genetic Background: involves: C3H/HeJ * C57BL/6J * MDB/Dt

Allelic Composition: Atp8a2wl/Atp8a2+
Genetic Background: Not Specified

Allelic Composition: Atp8a2wl-2J/Atp8a2wl-2J
Genetic Background: involves: DBA/2JCri

 MP:0001524 impaired limb coordination "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]
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Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Trove2tm1Woln/Trove2+
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

Allelic Composition: Atp8a2wl-2J/Atp8a2wl-2J
Genetic Background: involves: DBA/2JCri

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nrktm1Mkom/Nrk+
Genetic Background: B6.129S4-Nrktm1Mkom

 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: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: involves: C57BL/6

 MP:0002883 chromatolysis "the dissolution of the granules of chromophil substance in a nerve cell body that may occur in injured cells or axons" [dlb:Donna Burkart , Mouse Genome Informatics Curator]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0003225 axonal dystrophy "axon degeneration resulting from inadequate or faulty metabolism" [RGD:Rat Genome Database submission]
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Allelic Composition: Trove2tm1Woln/Trove2+
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Atp8a2wl-vmd/Atp8a2wl-vmd
Genetic Background: C3H/HeSnJ-Atp8a2wl-vmd/J

Allelic Composition: Atp8a2agil-2J/Atp8a2agil-2J
Genetic Background: AKR/J-Atp8a2agil-2J/J

Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0003491 abnormal voluntary movement "anomalies in coordinated movements executed with a purpose and can be improved by learning and/or experience" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0005311 abnormal circulating amino acid level "aberrant concentration in the blood of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:83263]
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Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

 MP:0006219 optic nerve degeneration "retrogressive pathologic change of the optic nerve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Il6tm1Kopf/Il6tm1Kopf,Inpp5dtm1Rkh/Inpp5dtm1Rkh
Genetic Background: involves: 129 * C57BL/6

 MP:0008025 brain vacuoles "the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2agil-2J/Atp8a2agil-2J
Genetic Background: AKR/J-Atp8a2agil-2J/J

 MP:0008027 abnormal spinal cord white matter morphology "any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Trove2tm1Woln/Trove2+
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Atp8a2agil-2J/Atp8a2agil-2J
Genetic Background: AKR/J-Atp8a2agil-2J/J

Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0008586 disorganized photoreceptor outer segment "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2tm1Rsmy/Atp8a2tm1Rsmy
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: involves: C57BL/6

 MP:0009148 pancreas necrosis "pathological cell death in the pancreas, usually due to irreversible damage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8a2agil-3J/Atp8a2agil-3J
Genetic Background: CBA/J-Atp8a2agil-3J/GrsrJ

 MP:0011083 complete lethality at weaning "premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food" [MGI:csmith]
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Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

 MP:0011084 partial lethality at weaning "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith]
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Allelic Composition: Atp8a2wl-3J/Atp8a2wl-3J
Genetic Background: CBA/J-Atp8a2wl-3J/J

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Trove2tm1Woln/Trove2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Atp8a2wl-2J/Atp8a2wl-2J
Genetic Background: involves: DBA/2JCri

 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]
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Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: involves: C57BL/6

 MP:0013723 increased circulating tyrosine level "the amount of the amino acid histidine in the blood is more than expected" [MGI:csmith]
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Allelic Composition: Atp8a2wl/Atp8a2wl
Genetic Background: Not Specified

  


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






 

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