ENSMUSG00000022995


Mus musculus

Features
Gene ID: ENSMUSG00000022995
  
Biological name :Enah
  
Synonyms : Enah / ENAH, actin regulator / Q03173
  
Possible biological names infered from orthology : Q8N8S7
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: H5
Gene start: 181896384
Gene end: 182019990
  
Corresponding Affymetrix probe sets: 10360764 (MoGene1.0st)   1421624_a_at (Mouse Genome 430 2.0 Array)   1424800_at (Mouse Genome 430 2.0 Array)   1424801_at (Mouse Genome 430 2.0 Array)   1431162_a_at (Mouse Genome 430 2.0 Array)   1442223_at (Mouse Genome 430 2.0 Array)   1455375_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000106659
Ensembl peptide - ENSMUSP00000106654
Ensembl peptide - ENSMUSP00000136863
Ensembl peptide - ENSMUSP00000141936
Ensembl peptide - ENSMUSP00000141462
Ensembl peptide - ENSMUSP00000141344
Ensembl peptide - ENSMUSP00000141330
Ensembl peptide - ENSMUSP00000077781
Ensembl peptide - ENSMUSP00000106653
NCBI entrez gene - 13800     See in Manteia.
MGI - MGI:108360
RefSeq - XM_006496652
RefSeq - NM_001083121
RefSeq - NM_008680
RefSeq - NM_010135
RefSeq - XM_006496643
RefSeq - XM_006496644
RefSeq - XM_006496645
RefSeq - XM_006496646
RefSeq - XM_006496647
RefSeq - XM_006496648
RefSeq - XM_006496649
RefSeq - XM_006496650
RefSeq - XM_006496651
RefSeq - NM_001083120
RefSeq Peptide - NP_001076590
RefSeq Peptide - NP_032706
RefSeq Peptide - NP_034265
RefSeq Peptide - NP_001076589
swissprot - J3QNM3
swissprot - A0A0A6YW06
swissprot - A0A0A6YVZ6
swissprot - E9QLZ9
swissprot - Q03173
swissprot - E9QKR1
swissprot - E9QKQ9
swissprot - A0A0A6YXC8
Ensembl - ENSMUSG00000022995
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 enahENSDARG00000032049Danio rerio
 ENAHENSGALG00000009303Gallus gallus
 ENAHENSG00000154380Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Evl / P70429 / Ena/VASP-like protein / Q9UI08* / Enah/Vasp-like*ENSMUSG0000002126228
Vasp / P70460 / vasodilator-stimulated phosphoprotein / P50552*ENSMUSG0000003040325
Q924S7 / Spred2 / Sprouty-related, EVH1 domain-containing protein 2 / Q7Z698* / sprouty related EVH1 domain containing 2*ENSMUSG0000004567110
Q924S8 / Spred1 / Sprouty-related, EVH1 domain-containing protein 1 / Q7Z699* / sprouty related EVH1 domain containing 1*ENSMUSG0000002735110
Spred3 / sprouty related EVH1 domain containing 3 / Q2MJR0*ENSMUSG000000372399


Protein motifs (from Interpro)
Interpro ID Name
 IPR000697  WH1/EVH1 domain
 IPR011993  PH-like domain superfamily
 IPR014885  VASP tetramerisation
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IGI
 biological_processGO:0007015 actin filament organization IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007411 axon guidance IMP
 biological_processGO:0008154 actin polymerization or depolymerization IDA
 biological_processGO:0030036 actin cytoskeleton organization IGI
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0070358 actin polymerization-dependent cell motility IDA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEP
 cellular_componentGO:0001725 stress fiber IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0015629 actin cytoskeleton TAS
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030054 cell junction ISO
 cellular_componentGO:0030175 filopodium IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005522 profilin binding IDA
 molecular_functionGO:0017124 SH3 domain binding IDA
 molecular_functionGO:0050699 WW domain binding ISO


Pathways (from Reactome)
Pathway description
Signaling by ROBO receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * 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: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001890 anencephaly "absence of the bones of the cranial vault and absent or rudimentary cerebral and cerebellar hemispheres, brainstem, and basal ganglia" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:31571]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0002192 hydrops fetalis "an abnormal accumulation of serous fluid in fetal tissues" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kiss1rGt1Stei/Kiss1rGt1Stei
Genetic Background: involves: 129S1/SvImJ * C57BL/6

 MP:0002196 acallosal "absence of the commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002199 abnormal brain commissure morphology "absent or defective structure in a bundle of nerve fibers connecting the two brain hemispheres" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002961 abnormal axon guidance "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003566 abnormal cell adhesion "altered ability of a cell to adhere to another cell or to a non-cellular component of the environment" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Bcl6tm1.1Jwan/Bcl6tm1.1Jwan
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCrlj * CBA/JNCrlj

 MP:0003648 abnormal radial glial cell morphology "anomalous structure, number, or composition of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain 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: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0008129 absent brain internal capsule "absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0008221 abnormal hippocampal commissure morphology "any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008415 abnormal neurite morphology "any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture" [PMID:12951572]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0008439 abnormal cortical plate morphology "any strucutral anomaly of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:1812236]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0008457 abnormal cortical intermediate zone morphology "any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone" [PMID:10632599]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0009026 abnormal brain pia mater morphology "any structural anomaly of the fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0009027 abnormal subarachnoid space morphology "any structural anomaly of the space between the arachnoid and dura mater that is traversed by fibrous trabeculae and contains cerebrospinal fluid" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0011112 partial lethality during fetal growth through 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 between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0011380 enlarged brain ventricle "increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [MGI:smb]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

 MP:0011724 ectopic cortical neuron "appearance of a cerebral cortical neuron or group of cerebral cortical neurons in a region where it is not normally found" [MGI:csmith]
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Allelic Composition: Enahtm1Fbg/Enahtm1Fbg,Evltm1Fbg/Evltm1Fbg,Vasptm1Ref/Vasptm1Ref
Genetic Background: involves: 129 * BALB/c * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000022148 Fyb / O35601 / FYN-binding protein 1 / FYB1* / O15117*  / complex / reaction
 ENSMUSG00000002699 Lcp2 / Q60787 / Lymphocyte cytosolic protein 2 / Q13094*  / complex / reaction
 ENSMUSG00000022883 Robo1 / roundabout guidance receptor 1 / Q9Y6N7*  / complex
 ENSMUSG00000031558 Slit2 / Q9R1B9 / slit guidance ligand 2 / O94813*  / complex






 

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