ENSMUSG00000021636


Mus musculus

Features
Gene ID: ENSMUSG00000021636
  
Biological name :Marveld2
  
Synonyms : Marveld2 / MARVEL domain-containing protein 2 / Q3UZP0
  
Possible biological names infered from orthology : MARVEL domain containing 2 / Q8N4S9
  
Species: Mus musculus
  
Chr. number: 13
Strand: -1
Band: D1
Gene start: 100595957
Gene end: 100616971
  
Corresponding Affymetrix probe sets: 10411680 (MoGene1.0st)   1426914_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000129990
Ensembl peptide - ENSMUSP00000153294
Ensembl peptide - ENSMUSP00000022137
Ensembl peptide - ENSMUSP00000126438
NCBI entrez gene - 218518     See in Manteia.
MGI - MGI:2446166
RefSeq - NM_178410
RefSeq - XM_006517605
RefSeq - NM_001038602
RefSeq Peptide - NP_001033691
RefSeq Peptide - NP_848497
swissprot - A1BQX3
swissprot - Q3UZP0
swissprot - E9Q1T5
Ensembl - ENSMUSG00000021636
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 marveld2aENSDARG00000025076Danio rerio
 marveld2bENSDARG00000061651Danio rerio
 MARVELD2ENSGALG00000027140Gallus gallus
 Q8N4S9ENSG00000152939Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ell / O08856 / RNA polymerase II elongation factor ELL / P55199* / elongation factor for RNA polymerase II*ENSMUSG0000007000216
Ell2 / Q3UKU1 / RNA polymerase II elongation factor ELL2 / O00472* / elongation factor for RNA polymerase II 2*ENSMUSG0000000154214
Ocel1 / occludin/ELL domain containing 1 / Q9H607*ENSMUSG0000000239611
Ell3 / Q80VR2 / RNA polymerase II elongation factor ELL3 / Q9HB65* / elongation factor for RNA polymerase II 3*ENSMUSG0000002724610


Protein motifs (from Interpro)
Interpro ID Name
 IPR008253  Marvel domain
 IPR010844  Occludin homology domain
 IPR031176  ELL/occludin family
 IPR031177  MARVEL domain-containing protein 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound ISO
 biological_processGO:0045216 cell-cell junction organization ISO
 biological_processGO:0061028 establishment of endothelial barrier ISO
 biological_processGO:0070830 bicellular tight junction assembly ISO
 cellular_componentGO:0005737 cytoplasm ISO
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane ISO
 cellular_componentGO:0016324 apical plasma membrane ISO
 cellular_componentGO:0030054 cell junction ISO
 cellular_componentGO:0031410 cytoplasmic vesicle ISO
 cellular_componentGO:0033010 paranodal junction IDA
 cellular_componentGO:0043220 Schmidt-Lanterman incisure IDA
 cellular_componentGO:0061689 tricellular tight junction IDA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000042 abnormal organ of Corti "abnormalities associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0000048 abnormal stria vascularis "anomalous structure of the layer of highly vascularized pigmented granular cells on the outer wall of the cochlear duct" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Mapkap1tm1b(EUCOMM)Wtsi/Mapkap1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Mapkap1tm1b(EUCOMM)Wtsi/Bay

 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1.1Sria/Marveld2+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1.1Sria/Marveld2+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 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: Mapkap1tm1b(EUCOMM)Wtsi/Mapkap1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Mapkap1tm1b(EUCOMM)Wtsi/Bay

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1Sats/Marveld2tm1Sats
Genetic Background: B6.Cg-Marveld2tm1Sats

 MP:0002102 abnormal ear morphology "structural or developmental anomaly of any of the structures involved in the ear or vestibular system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mapkap1tm1b(EUCOMM)Wtsi/Mapkap1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Mapkap1tm1b(EUCOMM)Wtsi/Bay

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 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]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0004333 abnormal utricular macula morphology "any structural abnormalities in the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0004362 cochlear hair cell degeneration "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1Sats/Marveld2tm1Sats
Genetic Background: B6.Cg-Marveld2tm1Sats

 MP:0004364 thin stria vascularis "reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 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: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1Sats/Marveld2tm1Sats
Genetic Background: B6.Cg-Marveld2tm1Sats

 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"]
Show

Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1Sats/Marveld2tm1Sats
Genetic Background: B6.Cg-Marveld2tm1Sats

 MP:0004696 abnormal thyroid follicle morphology "any structural abnormality of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 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: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1Sats/Marveld2tm1Sats
Genetic Background: B6.Cg-Marveld2tm1Sats

 MP:0004750 syndromic hearing loss "a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0004952 increased spleen weight "greater than average weight of the organ that functions to filter blood and to store red corpuscles and platelets" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Marveld2tm1Sats/Marveld2tm1Sats
Genetic Background: B6.Cg-Marveld2tm1Sats

 MP:0006359 absent startle reflex "failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mapkap1tm1b(EUCOMM)Wtsi/Mapkap1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Mapkap1tm1b(EUCOMM)Wtsi/Bay

 MP:0008789 abnormal olfactory epithelium morphology "any structural anomaly in the epithelial cells that line the interior of the nose" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1.1Sria/Marveld2+
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0009142 decreased prepulse inhibition "decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mapkap1tm1b(EUCOMM)Wtsi/Mapkap1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Mapkap1tm1b(EUCOMM)Wtsi/Bay

 MP:0009517 abnormal salivary gland duct morphology "any structural anomaly of the tubular canals that carry saliva" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

 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: Gata6tm2.1Sad/Gata6tm2.1Sad,Shhtm2Amc/Shhtm2Amc,Tg(Prrx1-cre)1Cjt/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Allelic Composition: Marveld2tm1b(EUCOMM)Wtsi/Marveld2tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Marveld2tm1b(EUCOMM)Wtsi/H

Allelic Composition: Marveld2tm1Sats/Marveld2tm1Sats
Genetic Background: B6.Cg-Marveld2tm1Sats

  


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






 

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