ENSMUSG00000026950


Mus musculus

Features
Gene ID: ENSMUSG00000026950
  
Biological name :Neb
  
Synonyms : Neb / nebulin
  
Possible biological names infered from orthology : P20929
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: C1.1
Gene start: 52136647
Gene end: 52378474
  
Corresponding Affymetrix probe sets: 10482528 (MoGene1.0st)   1435355_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118735
Ensembl peptide - ENSMUSP00000074773
Ensembl peptide - ENSMUSP00000121411
Ensembl peptide - ENSMUSP00000147944
Ensembl peptide - ENSMUSP00000147915
Ensembl peptide - ENSMUSP00000133401
Ensembl peptide - ENSMUSP00000028320
Ensembl peptide - ENSMUSP00000047763
NCBI entrez gene - 17996     See in Manteia.
MGI - MGI:97292
RefSeq - XM_017316216
RefSeq - XM_006497770
RefSeq - XM_006497771
RefSeq - XM_006497774
RefSeq - XM_006497775
RefSeq - XM_006497776
RefSeq - XM_011239032
RefSeq - XM_017316181
RefSeq - XM_017316188
RefSeq - XM_017316215
RefSeq - NM_010889
RefSeq - XM_006497749
RefSeq - XM_006497751
RefSeq - XM_006497754
RefSeq - XM_006497755
RefSeq - XM_006497757
RefSeq - XM_006497758
RefSeq - XM_006497759
RefSeq - XM_006497760
RefSeq - XM_006497762
RefSeq - XM_006497763
RefSeq - XM_006497764
RefSeq - XM_006497765
RefSeq - XM_006497766
RefSeq - XM_006497767
RefSeq - XM_006497768
RefSeq - XM_006497769
RefSeq Peptide - NP_035019
swissprot - A2AQB2
swissprot - A2AQA9
swissprot - F6RDH3
swissprot - E9Q1W3
swissprot - G3UWS1
swissprot - A0A1B0GSI0
swissprot - A0A1B0GSF5
swissprot - F6X9B6
Ensembl - ENSMUSG00000026950
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nebENSDARG00000032630Danio rerio
 NEBENSG00000183091Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nrap / Q80XB4 / Nebulin-related-anchoring protein / Q86VF7*ENSMUSG000000491349
Nebl / Q0II04 / Q9DC07 / LIM zinc-binding domain-containing Nebulette ENSMUSG000000537022
Lasp1 / Q61792 / LIM and SH3 domain protein 1 / Q14847* / LIM and SH3 protein 1*ENSMUSG000000383661


Protein motifs (from Interpro)
Interpro ID Name
 IPR000900  Nebulin repeat
 IPR001452  SH3 domain
 IPR013998  Nebulin-like
 IPR035629  Nebulin, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030832 regulation of actin filament length TAS
 biological_processGO:0045214 sarcomere organization TAS
 cellular_componentGO:0005865 striated muscle thin filament TAS
 cellular_componentGO:0030016 myofibril IEA
 cellular_componentGO:0030018 Z disc ISO
 cellular_componentGO:0043292 contractile fiber IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Striated Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Nebtm1.1Hgra/Nebtm1.1Hgra
Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Hiratm2Pjs/Hiratm2Pjs
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0001344 blepharoptosis "ptosis, drooping eyelids " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:24414]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
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Allelic Composition: Hiratm2Pjs/Hiratm2Pjs
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

Allelic Composition: Nebtm1.1Hgra/Nebtm1.1Hgra
Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

 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: Shank3tm1Cmpl/Shank3tm1Cmpl
Genetic Background: B6J.129S6-Shank3tm1Cmpl

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Taglntm1Liw/Tagln+,Tbx18tm1.1Mwmy/Tbx18tm1.1Mwmy
Genetic Background: involves: 129 * C57BL/6J

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nebtm1.1Hgra/Nebtm1.1Hgra
Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hiratm2Pjs/Hiratm2Pjs
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0004090 abnormal sarcomere morphology "any structural abnormality in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

Allelic Composition: Nebtm1(cre)Chen/Nebtm1(cre)Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

Allelic Composition: Nebtm1.1Hgra/Nebtm1.1Hgra
Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0004091 abnormal Z lines "any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Nebtm1(cre)Chen/Nebtm1(cre)Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

Allelic Composition: Nebtm1.1Hgra/Nebtm1.1Hgra
Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Shh+/Shhtm1Chg,Zic2Ku/Zic2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl * C3H/HeH

 MP:0005165 increased susceptibility to injury "greater than the normal reaction to trauma, especially that by physical means" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Shh+/Shhtm1Chg,Zic2Ku/Zic2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl * C3H/HeH

 MP:0005620 abnormal muscle contractility "aberrant ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

 MP:0009398 abnormal skeletal muscle fiber size "anomaly in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nebtm1.1Hgra/Nebtm1.1Hgra
Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

 MP:0009405 increased skeletal muscle fiber number "increased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0009409 abnormal skeletal muscle fiber type ratio "deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nebtm1(cre)Chen/Nebtm1(cre)Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0010227 decreased quadriceps weight "reduction in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0010239 decreased skeletal muscle weight "less than average skeletal muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 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: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

 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]
Show

Allelic Composition: Nebtm1(cre)Chen/Nebtm1(cre)Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

Allelic Composition: Nebtm1.1Hgra/Nebtm1.1Hgra
Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

 MP:0012106 impaired exercise endurance "impaired performance during controlled physical activity" [MGI:smb]
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Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0030566 abnormal A band morphology "any structural anomaly of the dark-staining region of a sarcomere that is situated between two I bands and marked by partial overlapping of thin (actin) and thick (myosin) filaments; an A band is anisotropic to polarized light and contains the entire length of a single thick filament; its center is traversed by the paler H zone, which in turn contains the M line" [GO:0031672, https://en.wikipedia.org/wiki/Sarcomere, https://medical-dictionary.thefreedictionary.com/A+band]
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Allelic Composition: Nebtm1(cre)Chen/Nebtm1(cre)Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

 MP:0030567 abnormal I band morphology "any structural anomaly of the light band on each side of the Z disc (aka Z line), comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; the I band is isotropic to polarized light and contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end" [GO:0031674, https://en.wikipedia.org/wiki/Sarcomere]
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Allelic Composition: Nebtm1(cre)Chen/Nebtm1(cre)Chen
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0030568 abnormal H zone morphology "any structural anomaly of the relatively pale zone traversing the center of the A band of a sarcomere, visible in relaxed muscle fibers; it consists of the central portion of thick (myosin) filaments that are not overlapped by thin (actin) filaments; within the H zone is a thin dark M line, the attachment site for the thick filaments in the center of the sarcomere" [GO:0031673, https://en.wikipedia.org/wiki/Sarcomere]
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Allelic Composition: Ctnnb1tm2(Nfkbia)Rsu/Ctnnb1+,Tg(Myh6-cre)2182Mds/0
Genetic Background: B6.Cg-Ctnnb1tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds

Allelic Composition: Nebtm2Hgra/Nebtm2Hgra,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: 129S6/SvEvTac * FVB

  


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






 

0 s.

 
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