ENSG00000092929


Homo sapiens

Features
Gene ID: ENSG00000092929
  
Biological name :UNC13D
  
Synonyms : Q70J99 / UNC13D / unc-13 homolog D
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q25.1
Gene start: 75827225
Gene end: 75844717
  
Corresponding Affymetrix probe sets: 226678_at (Human Genome U133 Plus 2.0 Array)   228350_at (Human Genome U133 Plus 2.0 Array)   228352_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467653
Ensembl peptide - ENSP00000466758
Ensembl peptide - ENSP00000466826
Ensembl peptide - ENSP00000207549
Ensembl peptide - ENSP00000388093
Ensembl peptide - ENSP00000464749
Ensembl peptide - ENSP00000466149
Ensembl peptide - ENSP00000466377
Ensembl peptide - ENSP00000466543
NCBI entrez gene - 201294     See in Manteia.
OMIM - 608897
RefSeq - XM_011524507
RefSeq - NM_199242
RefSeq - XM_011524504
RefSeq - XM_011524506
RefSeq Peptide - NP_954712
swissprot - K7EN81
swissprot - K7EQ37
swissprot - K7EIH3
swissprot - Q70J99
swissprot - K7ELN2
swissprot - K7EM66
swissprot - K7EN29
swissprot - K7EMK8
Ensembl - ENSG00000092929
  
Related genetic diseases (OMIM): 608898 - Hemophagocytic lymphohistiocytosis, familial, 3, 608898
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
 unc13dENSDARG00000078249Danio rerio
 UNC13DENSGALG00000002234Gallus gallus
 B2RUP2ENSMUSG00000057948Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BAIAP3 / O94812 / BAI1 associated protein 3ENSG0000000751633


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR014770  Munc13 homology 1
 IPR014772  Mammalian uncoordinated homology 13, domain 2
 IPR019558  Mammalian uncoordinated homology 13, subgroup, domain 2
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002432 granuloma formation IEA
 biological_processGO:0002467 germinal center formation IEA
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0006909 phagocytosis IEA
 biological_processGO:0043304 regulation of mast cell degranulation IMP
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0043320 natural killer cell degranulation IEA
 biological_processGO:0045921 positive regulation of exocytosis IMP
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IEA
 biological_processGO:1903307 positive regulation of regulated secretory pathway IGI
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IBA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0033093 Weibel-Palade body IDA
 cellular_componentGO:0035578 azurophil granule lumen TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0055037 recycling endosome IEA
 cellular_componentGO:0070382 exocytic vesicle IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017137 Rab GTPase binding IPI


Pathways (from Reactome)
Pathway description
Neutrophil degranulation


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:0001433 Hepatosplenomegaly 
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 HP:0001903 Anemia 
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 HP:0001913 Granulocytopenia 
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 HP:0001945 Fever 
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 HP:0002155 Hypertriglyceridemia 
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 HP:0011900 Hypofibrinogenemia "Decreased concentration of fibrinogen in the blood." [HPO:probinson]
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 HP:0012156 Hemophagocytosis "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson]
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 HP:0012178 Reduced natural killer cell activity "Reduced ability of the `natural killer cell` (CL:0000623) to function in the adaptive immune response." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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