ENSG00000141655


Homo sapiens

Features
Gene ID: ENSG00000141655
  
Biological name :TNFRSF11A
  
Synonyms : Q9Y6Q6 / TNF receptor superfamily member 11a / TNFRSF11A
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q21.33
Gene start: 62325287
Gene end: 62391292
  
Corresponding Affymetrix probe sets: 207037_at (Human Genome U133 Plus 2.0 Array)   238846_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000269485
Ensembl peptide - ENSP00000479567
Ensembl peptide - ENSP00000482466
Ensembl peptide - ENSP00000492422
Ensembl peptide - ENSP00000465500
NCBI entrez gene - 8792     See in Manteia.
OMIM - 603499
RefSeq - XM_017026066
RefSeq - NM_001270949
RefSeq - NM_001270950
RefSeq - NM_001270951
RefSeq - NM_001278268
RefSeq - NM_003839
RefSeq - XM_011526244
RefSeq - XM_011526245
RefSeq - XM_017026064
RefSeq - XM_017026065
RefSeq Peptide - NP_001257878
RefSeq Peptide - NP_001257880
RefSeq Peptide - NP_001265197
RefSeq Peptide - NP_003830
RefSeq Peptide - NP_001257879
swissprot - Q9Y6Q6
swissprot - A0A1W2PR41
Ensembl - ENSG00000141655
  
Related genetic diseases (OMIM): 174810 - Osteolysis, familial expansile, 174810
  602080 - {Paget disease of bone 2, early-onset}, 602080
  612301 - Osteopetrosis, autosomal recessive 7, 612301
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
 cd40ENSDARG00000054968Danio rerio
 tnfrsf11aENSDARG00000087804Danio rerio
 TNFRSF11AENSGALG00000045642Gallus gallus
 O35305ENSMUSG00000026321Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CD40 / P25942 / CD40 moleculeENSG0000010101716
P20333 / TNFRSF1B / TNF receptor superfamily member 1BENSG0000002813716
O75509 / TNFRSF21 / TNF receptor superfamily member 21ENSG0000014607215
LTBR / P36941 / lymphotoxin beta receptorENSG0000011132114
O00300 / TNFRSF11B / TNF receptor superfamily member 11bENSG0000016476112
Q92956 / TNFRSF14 / TNF receptor superfamily member 14ENSG0000015787310
O95407 / TNFRSF6B / TNF receptor superfamily member 6bENSG0000024350910


Protein motifs (from Interpro)
Interpro ID Name
 IPR001368  TNFR/NGFR cysteine-rich region
 IPR022323  Tumour necrosis factor receptor 11
 IPR022361  Tumour necrosis factor receptor 11A
 IPR034040  Tumor necrosis factor receptor 11A, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification IEA
 biological_processGO:0002250 adaptive immune response IMP
 biological_processGO:0002548 monocyte chemotaxis NAS
 biological_processGO:0006954 inflammatory response IBA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008284 positive regulation of cell proliferation TAS
 biological_processGO:0009314 response to radiation IEA
 biological_processGO:0030316 osteoclast differentiation IMP
 biological_processGO:0032496 response to lipopolysaccharide IBA
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway ISS
 biological_processGO:0034097 response to cytokine IMP
 biological_processGO:0034612 response to tumor necrosis factor ISS
 biological_processGO:0042981 regulation of apoptotic process IBA
 biological_processGO:0043507 positive regulation of JUN kinase activity IMP
 biological_processGO:0048535 lymph node development IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity ISS
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IMP
 biological_processGO:0060086 circadian temperature homeostasis ISS
 biological_processGO:0060749 mammary gland alveolus development IEA
 biological_processGO:0070555 response to interleukin-1 ISS
 biological_processGO:0071812 positive regulation of fever generation by positive regulation of prostaglandin secretion ISS
 biological_processGO:0071847 TNFSF11-mediated signaling pathway IMP
 biological_processGO:0071848 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling IMP
 biological_processGO:0097190 apoptotic signaling pathway IBA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IDA
 molecular_functionGO:0005031 tumor necrosis factor-activated receptor activity ISS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019955 cytokine binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 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:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators]
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000365 Hearing loss 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000529 Progressive visual loss 
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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:0000768 Pectus carinatum "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000889 Abnormality of the clavicles "Any abnormality of the clavicles (collar bones)." [HPO:curators]
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0000995 Pigmented nevi "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001482 Subcutaneous nodules 
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 HP:0001903 Anemia 
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 HP:0002149 Hyperuricemia "An abnormally high level of uric acid in the blood." [HPO:curators]
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 HP:0002653 Bone pain 
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 HP:0002753 Thin bony cortex "Abnormal thinning of the cortical region of bones." [HPO:curators]
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 HP:0002756 Pathologic fracture "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators]
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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:0002797 Osteolysis 
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 HP:0003080 Hydroxyprolinuria 
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 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
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 HP:0003676 Progressive disorder 
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 HP:0004313 Reduced immunoglobulin levels 
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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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 HP:0004437 Cranial hyperostosis "Excessive growth of the cranial bones." [HPO:curators]
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 HP:0006480 Premature loss of teeth 
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 HP:0006487 Bowing of the long bones 
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 HP:0006532 Pneumonia, recurrent episodes 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0007807 Optic nerve compression 
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 HP:0011002 Osteopetrosis 
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 HP:0025124 Fragile teeth "A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma." []
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 HP:0100670 Rough bone trabeculation 
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 HP:0100671 Abnormality of bone trabeculation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110330 BIRC2 / Q13490 / baculoviral IAP repeat containing 2  / reaction / complex
 ENSG00000127191 TRAF2 / Q12933 / TNF receptor associated factor 2  / reaction / complex
 ENSG00000023445 BIRC3 / Q13489 / baculoviral IAP repeat containing 3  / reaction / complex
 ENSG00000120659 O14788 / TNFSF11 / TNF superfamily member 11  / reaction / complex
 ENSG00000141655 Q9Y6Q6 / TNFRSF11A / TNF receptor superfamily member 11a  / reaction / complex
 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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