ENSMUSG00000020846


Mus musculus

Features
Gene ID: ENSMUSG00000020846
  
Biological name :Rflnb
  
Synonyms : Q5SVD0 / Refilin-B / Rflnb
  
Possible biological names infered from orthology : Q8N5W9
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: B5
Gene start: 76019194
Gene end: 76027782
  
Corresponding Affymetrix probe sets: 10388488 (MoGene1.0st)   1429764_at (Mouse Genome 430 2.0 Array)   1429765_at (Mouse Genome 430 2.0 Array)   1456603_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000021207
NCBI entrez gene - 76566     See in Manteia.
MGI - MGI:1923816
RefSeq - NM_029658
RefSeq Peptide - NP_083934
swissprot - Q5SVD0
Ensembl - ENSMUSG00000020846
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rflnbENSDARG00000093931Danio rerio
 RFLNBENSGALG00000004900Gallus gallus
 RFLNBENSG00000183688Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rflna / Q7TS73 / Refilin-A / Q6ZTI6*ENSMUSG0000003796234


Protein motifs (from Interpro)
Interpro ID Name
 IPR028215  Refilin family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001837 epithelial to mesenchymal transition IGI
 biological_processGO:0030036 actin cytoskeleton organization IMP
 biological_processGO:0048705 skeletal system morphogenesis IGI
 biological_processGO:0061181 regulation of chondrocyte development IEA
 biological_processGO:0061182 negative regulation of chondrocyte development IGI
 biological_processGO:0061572 actin filament bundle organization IGI
 biological_processGO:1900158 negative regulation of bone mineralization involved in bone maturation IGI
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0032432 actin filament bundle IDA
 molecular_functionGO:0031005 filamin binding ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000069 kyphoscoliosis "kyphosis combined with scoliosis" [MGI:CML, J:66943]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0000139 absent transverse processes "loss of bony protrusion of either side of the arch of a thoracic vertebrae" [J:62022, J:62023]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0000141 abnormal vertebral body morphology "malformed main portion of the vertebra anterior to the vertebral canal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 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: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0000161 scoliosis "lateral and rotational curvature of the spine" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53770, J:66943]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001255 decreased body height "decreased shoulder to floor distance compared to controls" [dlb:Donna Burkart, Mouse Genome Informatics Curator]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 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: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Scarb1Hlb398/?
Genetic Background: C57BL/6J-Scarb1Hlb398

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0003409 decreased width of hypertrophic chondrocyte zone "decreased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0003662 abnormal proliferative zone "germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96254]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004173 abnormal intervertebral disk morphology "malformation of the cartilagenous and gelatinous structure found between vertebrae" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004600 abnormal vertebral transverse process "any structural anomaly of the bony protrusions on either side of the arch of a vertebrae at the point where the lamina joins the pedicle, between the superior and inferior articular processes; muscles and ligaments attach to these processes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004606 absent vertebral spinous process "missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004609 vertebral fusion "the union of one or more vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004610 small vertebrae "reduced size of the bony segments of the spinal column" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004682 small intervertebral disk "reduced size of the cartilaginous and gelatinous structure found between vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004683 absent intervertebral disk "absence of the cartilaginous and gelatinous structure found between vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004684 intervertebral disk degeneration "retrogressive pathological change of the cartilaginous and gelatinous structure found between vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0005227 abnormal vertebral body development "anomalous formation of the main portion of the vertebra anterior to the vertebral canal, and distinct from the vertebral arch" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0005229 abnormal intervertebral disk development "anomalous fromation of the cartilagenous and gelatinous structure found between vertebrae" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0006392 abnormal nucleus pulposus morphology "any anomaly in the structure or formation of the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0006396 decreased long bone epiphyseal plate size "reduced size of the cartilaginous center of ossification on the long bones permitting growth of the bone in both directions during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0008152 decreased diameter of femur "reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0008277 abnormal sternum ossification "anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958, MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0014101 decreased chondrocyte proliferation "decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population" [GO:0035988]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0014103 increased chondrocyte apoptosis "increased number of chondrocytes undergoing programmed cell death" [MGI:csmith]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0014107 premature chondrocyte differentiation "early occurance of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte" [GO:0002062]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0020040 decreased bone ossification "decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Rflnbtm1Sia/Rflnbtm1Sia
Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

  


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






 

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