ENSG00000171135


Homo sapiens

Features
Gene ID: ENSG00000171135
  
Biological name :JAGN1
  
Synonyms : JAGN1 / jagunal homolog 1 / Q8N5M9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p25.3
Gene start: 9890554
Gene end: 9894349
  
Corresponding Affymetrix probe sets: 223104_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000306106
NCBI entrez gene - 84522     See in Manteia.
OMIM - 616012
RefSeq - NM_032492
RefSeq Peptide - NP_115881
swissprot - Q8N5M9
Ensembl - ENSG00000171135
  
Related genetic diseases (OMIM): 616022 - Neutropenia, severe congenital, 6, autosomal recessive, 616022
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 jagn1aENSDARG00000041071Danio rerio
 jagn1bENSDARG00000014995Danio rerio
 JAGN1ENSGALG00000031797Gallus gallus
 1 ENSMUSG00000051256Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR009787  Protein jagunal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002446 neutrophil mediated immunity IEA
 biological_processGO:0006887 exocytosis TAS
 biological_processGO:0007029 endoplasmic reticulum organization IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IMP
 biological_processGO:0030223 neutrophil differentiation IMP
 biological_processGO:0038158 granulocyte colony-stimulating factor signaling pathway IEA
 biological_processGO:0050832 defense response to fungus IEA
 biological_processGO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA
 biological_processGO:1904577 cellular response to tunicamycin IEA
 biological_processGO:1990266 neutrophil migration IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000403 Recurrent otitis media 
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 HP:0001508 Failure to thrive 
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 HP:0001875 Neutropenia 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002718 Recurrent bacterial infections 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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