ENSMUSG00000030683


Mus musculus

Features
Gene ID: ENSMUSG00000030683
  
Biological name :Sez6l2
  
Synonyms : Q4V9Z5 / Seizure 6-like protein 2 / Sez6l2
  
Possible biological names infered from orthology : Q6UXD5 / seizure related 6 homolog like 2
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F3
Gene start: 126950563
Gene end: 126970606
  
Corresponding Affymetrix probe sets: 10557535 (MoGene1.0st)   1423983_at (Mouse Genome 430 2.0 Array)   1434641_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000101942
Ensembl peptide - ENSMUSP00000146086
Ensembl peptide - ENSMUSP00000145667
Ensembl peptide - ENSMUSP00000115905
Ensembl peptide - ENSMUSP00000101939
Ensembl peptide - ENSMUSP00000101940
NCBI entrez gene - 233878     See in Manteia.
MGI - MGI:2385295
RefSeq - XM_006507737
RefSeq - NM_001252566
RefSeq - NM_001252567
RefSeq - NM_144926
RefSeq Peptide - NP_001239496
RefSeq Peptide - NP_001239495
RefSeq Peptide - NP_659175
swissprot - Q4V9Z5
swissprot - A0A0U1RNQ8
swissprot - D3YY14
swissprot - A0A0U1RPR3
Ensembl - ENSMUSG00000030683
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sez6l2ENSDARG00000076052Danio rerio
 Q6UXD5ENSG00000174938Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sez6 / Q7TSK2 / Seizure protein 6 / Q53EL9* / seizure related 6 homolog*ENSMUSG0000000063245
Sez6l / Q6P1D5 / seizure related 6 homolog like / Q9BYH1*ENSMUSG0000005815344
Csmd3 / Q80T79 / CUB and sushi domain-containing protein 3 / Q7Z407* / CUB and Sushi multiple domains 3*ENSMUSG0000002231122
Csmd2 / CUB and Sushi multiple domains 2 / Q7Z408*ENSMUSG0000002880421
Csmd1 / Q923L3 / CUB and sushi domain-containing protein 1 / CUB and Sushi multiple domains 1*ENSMUSG0000006092421
Svep1 / A2AVA0 / Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 / Q4LDE5* / sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1*ENSMUSG0000002836918
Cr2 / complement C3d receptor 2 / P20023*ENSMUSG0000002661616
Cr1l / Q64735 / Mus musculus complement component (3b/4b) receptor 1-like (Cr1l), transcript variant 2, mRNA. / Q2VPA4* / complement C3b/C4b receptor 1 like*ENSMUSG000000164818


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR000859  CUB domain
 IPR035914  Spermadhesin, CUB domain superfamily
 IPR035976  Sushi/SCR/CCP superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008344 adult locomotory behavior IGI
 biological_processGO:0021680 cerebellar Purkinje cell layer development IGI
 biological_processGO:0060074 synapse maturation IGI
 biological_processGO:0090036 regulation of protein kinase C signaling IGI
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043025 neuronal cell body IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Sez6tm1Hta/Sez6tm1Hta,Sez6l2tm1Hta/Sez6l2tm1Hta
Genetic Background: involves: 129 * C57BL

 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: Apobtm1Mae/Apob+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Sez6tm1Hta/Sez6tm1Hta,Sez6l2tm1Hta/Sez6l2tm1Hta
Genetic Background: involves: 129 * C57BL

 MP:0002910 abnormal excitatory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Sez6tm1Hta/Sez6tm1Hta,Sez6ltm1Hta/Sez6ltm1Hta,Sez6l2tm1Hta/Sez6l2tm1Hta
Genetic Background: involves: 129 * C57BL

 MP:0003894 abnormal Purkinje cell innervation "malformation or absence of the supply of nerve fibers that connect to the Purkinje cells" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sez6tm1Hta/Sez6tm1Hta,Sez6ltm1Hta/Sez6ltm1Hta,Sez6l2tm1Hta/Sez6l2tm1Hta
Genetic Background: involves: 129 * C57BL

 MP:0011268 biphasic excitatory postsynaptic current amplitude "the appearance of two peaks instead of one peak in the evoked excitatory postsynaptic current wave" [MGI:csmith]
Show

Allelic Composition: Sez6tm1Hta/Sez6tm1Hta,Sez6ltm1Hta/Sez6ltm1Hta,Sez6l2tm1Hta/Sez6l2tm1Hta
Genetic Background: involves: 129 * C57BL

 MP:0011270 decreased excitatory postsynaptic current amplitude "reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave" [MGI:csmith]
Show

Allelic Composition: Sez6tm1Hta/Sez6tm1Hta,Sez6ltm1Hta/Sez6ltm1Hta,Sez6l2tm1Hta/Sez6l2tm1Hta
Genetic Background: involves: 129 * C57BL

 MP:0011272 short excitatory postsynaptic current rise time "an decrease in the time required for a signal to change from resting to the peak amplitude value in the evoked excitatory postsynaptic current wave" [MGI:csmith]
Show

Allelic Composition: Sez6tm1Hta/Sez6tm1Hta,Sez6ltm1Hta/Sez6ltm1Hta,Sez6l2tm1Hta/Sez6l2tm1Hta
Genetic Background: involves: 129 * C57BL

  


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






 

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