ENSMUSG00000040380


Mus musculus

Features
Gene ID: ENSMUSG00000040380
  
Biological name :Cbln3
  
Synonyms : Cbln3 / Cerebellin-3 / Q9JHG0
  
Possible biological names infered from orthology : cerebellin 3 precursor / Q6UW01
  
Species: Mus musculus
  
Chr. number: 14
Strand: -1
Band: C3
Gene start: 55878913
Gene end: 55884392
  
Corresponding Affymetrix probe sets: 10420209 (MoGene1.0st)   1422911_at (Mouse Genome 430 2.0 Array)   1455445_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000070494
Ensembl peptide - ENSMUSP00000127798
NCBI entrez gene - 56410     See in Manteia.
MGI - MGI:1889286
RefSeq - NM_019820
RefSeq Peptide - NP_062794
swissprot - Q9JHG0
Ensembl - ENSMUSG00000040380
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CBLN3ENSG00000139899Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Cbln2 / Q8BGU2 / Cerebellin-2 / Q8IUK8* / cerebellin 2 precursor*ENSMUSG0000002464756
Cbln1 / Q9R171 / Cerebellin-1 Cerebellin [des-Ser1]-cerebellin / P23435* / cerebellin 1 precursor*ENSMUSG0000003165455
Cbln4 / Q8BME9 / Cerebellin-4 / Q9NTU7* / cerebellin 4 precursor*ENSMUSG0000006757855
Q05A80 / Caprin2 / Q6IMN6* / caprin family member 2*ENSMUSG0000003030931
Q9ES30 / C1qtnf3 / Complement C1q tumor necrosis factor-related protein 3 / Q9BXJ4* / C1QTNF3-AMACR* / C1q and TNF related 3* / C1QTNF3-AMACR readthrough (NMD candidate)*ENSMUSG0000005891431
C1ql4 / Q4ZJM9 / Complement C1q-like protein 4 / Q86Z23* / complement C1q like 4*ENSMUSG0000000107629
C1ql2 / Q8CFR0 / Complement C1q-like protein 2 / Q7Z5L3* / complement C1q like 2*ENSMUSG0000003690727
C1ql3 / Q9ESN4 / Complement C1q-like protein 3 / Q5VWW1* / complement C1q like 3*ENSMUSG0000004963027
C1ql1 / O88992 / C1q-related factor / O75973* / complement C1q like 1*ENSMUSG0000004553227
Q60865 / Caprin1 / Q14444* / cell cycle associated protein 1*ENSMUSG000000271848


Protein motifs (from Interpro)
Interpro ID Name
 IPR001073  C1q domain
 IPR008983  Tumour necrosis factor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008150 biological_process ND
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IGI
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0045202 synapse IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 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: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbln1tm1Jim/Cbln1+,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Apba2tm1Tsuz/Apba2tm1Tsuz
Genetic Background: C57BL/6-Apba2tm1Tsuz

Allelic Composition: Cbln1tm1Jim/Cbln1+,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003382 straub tail "condition in which an animal carries its tail in an erect (vertical or nearly vertical) position; often seen upon opioid and other drug treatment" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 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: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

 MP:0010507 shortened RR interval "reduction in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cacna1stm1.1(KOMP)Vlcg/J

  


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






 

1 s.

 
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