ENSG00000120659


Homo sapiens

Features
Gene ID: ENSG00000120659
  
Biological name :TNFSF11
  
Synonyms : O14788 / TNFSF11 / TNF superfamily member 11
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q14.11
Gene start: 42562736
Gene end: 42608013
  
Corresponding Affymetrix probe sets: 210643_at (Human Genome U133 Plus 2.0 Array)   211153_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000351347
Ensembl peptide - ENSP00000239849
Ensembl peptide - ENSP00000384042
Ensembl peptide - ENSP00000444913
Ensembl peptide - ENSP00000381775
NCBI entrez gene - 8600     See in Manteia.
OMIM - 602642
RefSeq - XM_017020803
RefSeq - NM_003701
RefSeq - NM_033012
RefSeq - XM_011535280
RefSeq - XM_017020802
RefSeq Peptide - NP_003692
RefSeq Peptide - NP_143026
swissprot - Q54A98
swissprot - Q5T9Y4
swissprot - O14788
Ensembl - ENSG00000120659
  
Related genetic diseases (OMIM): 259710 - Osteopetrosis, autosomal recessive 2, 259710
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
 tnfsf11ENSDARG00000068141Danio rerio
 TNFSF11ENSGALG00000026163Gallus gallus
 O35235ENSMUSG00000022015Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P50591 / TNFSF10 / TNF superfamily member 10ENSG0000012185820


Protein motifs (from Interpro)
Interpro ID Name
 IPR006052  Tumour necrosis factor domain
 IPR008983  Tumour necrosis factor-like domain superfamily
 IPR017355  Tumour necrosis factor ligand 10/11


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification IEA
 biological_processGO:0002158 osteoclast proliferation IEA
 biological_processGO:0002548 monocyte chemotaxis IDA
 biological_processGO:0006955 immune response NAS
 biological_processGO:0007257 activation of JUN kinase activity IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0009887 animal organ morphogenesis IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway IDA
 biological_processGO:0019722 calcium-mediated signaling ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030316 osteoclast differentiation NAS
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway ISS
 biological_processGO:0033598 mammary gland epithelial cell proliferation IEA
 biological_processGO:0034112 positive regulation of homotypic cell-cell adhesion IDA
 biological_processGO:0038001 paracrine signaling IEA
 biological_processGO:0042327 positive regulation of phosphorylation IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0043406 positive regulation of MAP kinase activity IDA
 biological_processGO:0044691 tooth eruption IEA
 biological_processGO:0045453 bone resorption IEA
 biological_processGO:0045670 regulation of osteoclast differentiation IEA
 biological_processGO:0045672 positive regulation of osteoclast differentiation IDA
 biological_processGO:0045780 positive regulation of bone resorption IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0046330 positive regulation of JNK cascade IEA
 biological_processGO:0050870 positive regulation of T cell activation IDA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity ISS
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051466 positive regulation of corticotropin-releasing hormone secretion ISS
 biological_processGO:0051897 positive regulation of protein kinase B signaling IEA
 biological_processGO:0055074 calcium ion homeostasis IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0060749 mammary gland alveolus development IEA
 biological_processGO:0070371 ERK1 and ERK2 cascade IEA
 biological_processGO:0071812 positive regulation of fever generation by positive regulation of prostaglandin secretion ISS
 biological_processGO:0071847 TNFSF11-mediated signaling pathway IDA
 biological_processGO:0071848 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling IDA
 biological_processGO:1902533 positive regulation of intracellular signal transduction IDA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 biological_processGO:2001206 positive regulation of osteoclast development IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane NAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005125 cytokine activity IDA
 molecular_functionGO:0005164 tumor necrosis factor receptor binding NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0032813 tumor necrosis factor receptor superfamily binding IC


Pathways (from Reactome)
Pathway description
TNFR2 non-canonical NF-kB pathway
TNFs bind their physiological receptors
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway


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:0000238 Hydrocephalus 
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000388 Otitis media 
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 HP:0000505 Impaired vision 
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 HP:0000618 Blindness 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0000649 Abnormality of vision evoked potentials 
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 HP:0000670 Carious teeth 
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000772 Abnormality of the ribs 
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 HP:0000774 Narrow chest 
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 HP:0000944 Abnormality of the metaphyses 
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 HP:0000978 Ecchymoses 
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 HP:0000980 Pallor 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001363 Craniosynostosis "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators]
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001510 Growth retardation 
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 HP:0001641 Abnormality of the pulmonary valve "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001876 Pancytopenia 
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 HP:0001903 Anemia 
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 HP:0001978 Extramedullary hematopoiesis 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002104 Apnea "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
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 HP:0002148 Hypophosphatemia "A lower than normal level of blood phosphate." [HPO:curators]
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002257 Chronic rhinitis 
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 HP:0002653 Bone pain 
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 HP:0002716 Lymphadenopathy 
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002857 Genu valgum 
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 HP:0002901 Hypocalcemia "A level of blood calcium that is lower than normal." [HPO:curators]
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 HP:0003034 Diaphyseal sclerosis 
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 HP:0004349 Reduced bone mineral density "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators]
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 HP:0004370 Abnormality of temperature regulation 
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 HP:0004415 Pulmonary artery stenosis 
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 HP:0004437 Cranial hyperostosis "Excessive growth of the cranial bones." [HPO:curators]
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 HP:0004499 chronic rhinitis due to narrow nasal airway 
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 HP:0005930 Abnormality of the epiphyses 
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 HP:0006323 Premature deciduous tooth loss 
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 HP:0006335 Delayed loss of deciduous teeth 
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 HP:0006487 Bowing of the long bones 
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 HP:0006824 Cranial nerve paralysis 
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 HP:0007209 Facial paralysis due to cranial nerve VII compression "Facial nerve paralysis (facial palsy) caused by compression (with ensuing loss of function) of the facial nerve (i.e., the seventh cranial nerve)." [HPO:curators]
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 HP:0007626 Mandibular osteomyelitis 
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 HP:0007807 Optic nerve compression 
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 HP:0008066 Abnormal blistering of the skin 
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 HP:0010543 Opsoclonus "Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude." [HPO:curators]
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 HP:0010719 Abnormality of hair texture "An abnormality of the texture of the `hair` (FMA:53667)." [HPO:probinson]
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 HP:0011002 Osteopetrosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110330 BIRC2 / Q13490 / baculoviral IAP repeat containing 2  / complex / reaction
 ENSG00000120659 O14788 / TNFSF11 / TNF superfamily member 11  / complex
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / complex / reaction
 ENSG00000023445 BIRC3 / Q13489 / baculoviral IAP repeat containing 3  / reaction / complex
 ENSG00000164761 O00300 / TNFRSF11B / TNF receptor superfamily member 11b  / reaction / complex
 ENSG00000141655 Q9Y6Q6 / TNFRSF11A / TNF receptor superfamily member 11a  / complex / reaction
 ENSG00000131323 TRAF3 / Q13114 / TNF receptor associated factor 3  / reaction / complex
 ENSG00000006062 Q99558 / MAP3K14 / mitogen-activated protein kinase kinase kinase 14  / reaction / complex






 

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