ENSMUSG00000001052


Mus musculus

Features
Gene ID: ENSMUSG00000001052
  
Biological name :Sec24b
  
Synonyms : Sec24b / Sec24 related gene family, member B (S. cerevisiae)
  
Possible biological names infered from orthology : O95487 / SEC24 homolog B, COPII coat complex component
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: G3
Gene start: 129982759
Gene end: 130061553
  
Corresponding Affymetrix probe sets: 10502165 (MoGene1.0st)   1426848_at (Mouse Genome 430 2.0 Array)   1426849_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000001079
Ensembl peptide - ENSMUSP00000126923
Ensembl peptide - ENSMUSP00000132861
NCBI entrez gene - 99683     See in Manteia.
MGI - MGI:2139764
RefSeq - XM_006502467
RefSeq - XM_006502468
RefSeq - XM_006502469
RefSeq - NM_207209
RefSeq Peptide - NP_997092
swissprot - Q80ZX0
swissprot - F6VJC5
swissprot - F6YIN5
Ensembl - ENSMUSG00000001052
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sec24bENSDARG00000071906Danio rerio
 SEC24BENSGALG00000035482Gallus gallus
 O95487ENSG00000138802Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q3U2P1 / Sec24a / Protein transport protein Sec24A / O95486* / SEC24 homolog A, COPII coat complex component*ENSMUSG0000003639151
Sec24c / Sec24 related gene family, member C (S. cerevisiae) / P53992* / SEC24 homolog C, COPII coat complex component*ENSMUSG0000003936723
Sec24d / Sec24 related gene family, member D (S. cerevisiae) / O94855* / SEC24 homolog D, COPII coat complex component*ENSMUSG0000003923422


Protein motifs (from Interpro)
Interpro ID Name
 IPR006895  Zinc finger, Sec23/Sec24-type
 IPR006896  Sec23/Sec24, trunk domain
 IPR006900  Sec23/Sec24, helical domain
 IPR007123  Gelsolin-like domain
 IPR012990  Sec23/Sec24 beta-sandwich
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR029006  ADF-H/Gelsolin-like domain superfamily
 IPR036174  Zinc finger, Sec23/Sec24-type superfamily
 IPR036175  Sec23/Sec24 helical domain superfamily
 IPR036180  Gelsolin-like domain superfamily
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0002093 auditory receptor cell morphogenesis IMP
 biological_processGO:0003151 outflow tract morphogenesis IMP
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport ISO
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0021747 cochlear nucleus development IMP
 biological_processGO:0035909 aorta morphogenesis IMP
 biological_processGO:0060088 auditory receptor cell stereocilium organization IMP
 biological_processGO:0060425 lung morphogenesis IMP
 biological_processGO:0060463 lung lobe morphogenesis IMP
 biological_processGO:0060982 coronary artery morphogenesis IMP
 biological_processGO:0061156 pulmonary artery morphogenesis IMP
 biological_processGO:0072358 cardiovascular system development IMP
 biological_processGO:0090110 cargo loading into COPII-coated vesicle ISO
 biological_processGO:0090178 regulation of establishment of planar polarity involved in neural tube closure IMP
 biological_processGO:1901301 regulation of cargo loading into COPII-coated vesicle IMP
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0030127 COPII vesicle coat ISO
 cellular_componentGO:0030134 COPII-coated ER to Golgi transport vesicle ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding ISO


Pathways (from Reactome)
Pathway description
COPII-mediated vesicle transport
MHC class II antigen presentation
Cargo concentration in the ER
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000031 abnormal cochlea morphology "any anomaly, deformity, malformation, impairment or dysfunction of the cochlea" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:21484]
Show

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 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: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

Allelic Composition: Scribm51206BHubr/Scrib+,Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0000279 ventricular hypoplasia "reduction in cell number of one or both of the two lower chambers of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61790]
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Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 MP:0000757 herniated abdominal wall "protrusions through and/or into the abdominal wall often resulting in the extrusion of viscera" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Lgi1tm1.1Jkc/Lgi1+,Tyrc-Brd/Tyrc-Brd
Genetic Background: B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc

 MP:0001697 abnormal embryo size "anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Lgi1tm1.1Jkc/Lgi1+,Tyrc-Brd/Tyrc-Brd
Genetic Background: B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
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Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Atp2b2Deaf11/Atp2b2Deaf13
Genetic Background: BALB/c-Atp2b2Deaf11/Atp2b2Deaf13

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Lgi1tm1.1Jkc/Lgi1+,Tyrc-Brd/Tyrc-Brd
Genetic Background: B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc

 MP:0003054 spina bifida "common congenital midline defect of fusion of the vertebral arch" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Sec24bY613X/Sec24b+,Vangl2Lp/Vangl2+
Genetic Background: involves: A * C3H/He * C57BL/6

 MP:0003641 small lung "reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]
Show

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
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Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 MP:0004160 retroesophageal right subclavian artery "the subclavian artery aberrantly originates from the aortic arch distal to the origin of the left subclavian artery, i.e., it is the last branch of the aortic arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 MP:0004393 abnormal cochlear inner hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell s surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

Allelic Composition: Scribm51206BHubr/Scrib+,Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0004399 abnormal cochlear outer hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell s surface through the cuticular plate into the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

Allelic Composition: Scribm51206BHubr/Scrib+,Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0004491 abnormal orientation of outer hair cell stereociliary bundles "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Lgi1tm1.1Jkc/Lgi1+,Tyrc-Brd/Tyrc-Brd
Genetic Background: B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6 * FVB/N

Allelic Composition: Scribm51206BHubr/Scrib+,Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0004492 abnormal orientation of inner hair cell stereociliary bundles "misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lgi1tm1.1Jkc/Lgi1+,Tyrc-Brd/Tyrc-Brd
Genetic Background: B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

 MP:0008784 craniorachischisis "congenital fissure of the skull and vertebral column" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Lgi1tm1.1Jkc/Lgi1+,Tyrc-Brd/Tyrc-Brd
Genetic Background: B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0009264 failure of eyelid fusion "the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye do not fuse together during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Lgi1tm1.1Jkc/Lgi1+,Tyrc-Brd/Tyrc-Brd
Genetic Background: B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc

 MP:0010975 abnormal lung lobe morphology "any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6 * FVB/N

 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: Sec24bY613X/Sec24b+,Vangl2Lp/Vangl2+
Genetic Background: involves: A * C3H/He * 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: Lgi1tm1.1Jkc/Lgi1+,Tyrc-Brd/Tyrc-Brd
Genetic Background: B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc

Allelic Composition: Sec24bkrb/Sec24bkrb
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0011109 partial lethality throughout fetal growth and development "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 birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Sec24bY613X/Sec24b+,Vangl2Lp/Vangl2+
Genetic Background: involves: A * C3H/He * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000067341 H2-Eb2 / Q9GIY3* / P01911* / P04229* / Q29974* / Q30154* / HLA-DRB5* / HLA-DRB1* / major histocompatibility complex, class II, DR beta 1* / major histocompatibility complex, class II, DR beta 5*  / reaction / complex
 ENSMUSG00000020149 Rab1 / P62821 / Ras-related protein Rab-1A / RAB1A* / P62820* / RAB1A, member RAS oncogene family*  / complex / reaction
 ENSMUSG00000024610 Cd74 / P04441 / CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) / P04233* / CD74 molecule*  / reaction / complex
 ENSMUSG00000002546 Golga2 / Q921M4 / golgi autoantigen, golgin subfamily a, 2 / A7E2F4* / A8MQT2* / D6RF30* / F8WBI6* / A6NCC3* / A6NDK9* / A6NDN3* / A6NMD2* / H3BSY2* / I6L899* / P0CG33* / P0CJ92* / Q08379* ...  / complex / reaction
 ENSMUSG00000030298 Sec13 / Q9D1M0 / SEC13 homolog, nuclear pore and COPII coat complex component / P55735*  / reaction / complex
 ENSMUSG00000026589 Q91XT4 / Sec16b / Protein transport protein Sec16B / Q96JE7* / SEC16 homolog B, endoplasmic reticulum export factor*  / reaction / complex
 ENSMUSG00000073421 H2-Ab1 / P14483 / histocompatibility 2, class II antigen A, beta 1 / P05538* / HLA-DQB1* / HLA-DQB2* / major histocompatibility complex, class II, DQ beta 1* / major histocompatibility comp...  / reaction / complex
 ENSMUSG00000029407 Uso1 / Q9Z1Z0 / USO1 vesicle docking factor / O60763* / USO1 vesicle transport factor*  / complex / reaction
 ENSMUSG00000055319 Sec23ip / Sec23 interacting protein / Q9Y6Y8*  / complex / reaction
 ENSMUSG00000020986 Q01405 / Sec23a / Protein transport protein Sec23A / Q15436* / Sec23 homolog A, coat complex II component*  / complex / reaction
 ENSMUSG00000060802 B2m / P01887 / Beta-2-microglobulin / P61769*  / complex / reaction
 ENSMUSG00000026924 Sec16a / SEC16 homolog A, endoplasmic reticulum export factor / O15027*  / complex / reaction
 ENSMUSG00000027879 O08547 / Sec22b / Vesicle-trafficking protein SEC22b / O75396* / SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)*  / reaction / complex
 ENSMUSG00000035325 Q3UPL0 / Sec31a / Protein transport protein Sec31A / O94979* / SEC31 homolog A, COPII coat complex component*  / reaction / complex
 ENSMUSG00000032513 Q91X51 / Gorasp1 / golgi reassembly stacking protein 1 / Q9BQQ3*  / complex / reaction
 ENSMUSG00000060586 H2-Eb1 / Q9GIY3* / P01911* / P04229* / Q29974* / Q30154* / HLA-DRB5* / HLA-DRB1* / major histocompatibility complex, class II, DR beta 1* / major histocompatibility complex, class II, DR beta 5*  / reaction / complex
 ENSMUSG00000036594 H2-Aa / P14434 / H-2 class II histocompatibility antigen, A-B alpha chain / P01909* / P01906* / HLA-DQA2* / HLA-DQA1* / major histocompatibility complex, class II, DQ alpha 2* / major hist...  / reaction / complex
 ENSMUSG00000020386 Sar1b / Q9CQC9 / secretion associated Ras related GTPase 1B / Q9Y6B6*  / reaction / complex
 ENSMUSG00000025162 Csnk1d / Q9DC28 / casein kinase 1, delta / P48730*  / reaction
 ENSMUSG00000026753 Ppp6c / Q9CQR6 / Serine/threonine-protein phosphatase 6 catalytic subunit / O00743* / protein phosphatase 6 catalytic subunit*  / reaction






 

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