ENSG00000168646


Homo sapiens

Features
Gene ID: ENSG00000168646
  
Biological name :AXIN2
  
Synonyms : AXIN2 / Q9Y2T1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q24.1
Gene start: 65528563
Gene end: 65561647
  
Corresponding Affymetrix probe sets: 222695_s_at (Human Genome U133 Plus 2.0 Array)   222696_at (Human Genome U133 Plus 2.0 Array)   224176_s_at (Human Genome U133 Plus 2.0 Array)   224498_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000463192
Ensembl peptide - ENSP00000463761
Ensembl peptide - ENSP00000481191
Ensembl peptide - ENSP00000478916
Ensembl peptide - ENSP00000464264
Ensembl peptide - ENSP00000302625
Ensembl peptide - ENSP00000364854
Ensembl peptide - ENSP00000441151
NCBI entrez gene - 8313     See in Manteia.
OMIM - 604025
RefSeq - XM_011525319
RefSeq - XM_017025194
RefSeq - XM_017025193
RefSeq - XM_017025192
RefSeq - XM_011525321
RefSeq - XM_011525320
RefSeq - NM_004655
RefSeq Peptide - NP_004646
swissprot - Q9Y2T1
swissprot - E7ES00
swissprot - J3QRK4
swissprot - J3QQJ3
swissprot - F5GX43
swissprot - A0A087WXP8
swissprot - A0A1B0GX50
Ensembl - ENSG00000168646
  
Related genetic diseases (OMIM): 114500 - Colorectal cancer, somatic, 114500
  608615 - Oligodontia-colorectal cancer syndrome, 608615
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
 axin2ENSDARG00000100149Danio rerio
 AXIN2ENSGALG00000039200Gallus gallus
 Axin2ENSMUSG00000000142Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AXIN1 / O15169ENSG0000010312642


Protein motifs (from Interpro)
Interpro ID Name
 IPR001158  DIX domain
 IPR014936  Axin beta-catenin binding
 IPR016137  RGS domain
 IPR024066  RGS, subdomain 1/3
 IPR029071  Ubiquitin-like domain superfamily
 IPR032101  Axin-1/2, tankyrase-binding domain
 IPR036305  RGS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IMP
 biological_processGO:0001957 intramembranous ossification IEA
 biological_processGO:0003139 secondary heart field specification IEA
 biological_processGO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesis IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IMP
 biological_processGO:0010942 positive regulation of cell death IMP
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0030111 regulation of Wnt signaling pathway IEA
 biological_processGO:0030282 bone mineralization IEA
 biological_processGO:0032423 regulation of mismatch repair IMP
 biological_processGO:0034613 cellular protein localization IDA
 biological_processGO:0042476 odontogenesis IMP
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0043570 maintenance of DNA repeat elements IMP
 biological_processGO:0045668 negative regulation of osteoblast differentiation IEA
 biological_processGO:0048255 mRNA stabilization IMP
 biological_processGO:0061181 regulation of chondrocyte development IEA
 biological_processGO:0070602 regulation of centromeric sister chromatid cohesion IEA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IMP
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway TAS
 biological_processGO:1904837 beta-catenin-TCF complex assembly TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0030877 beta-catenin destruction complex NAS
 molecular_functionGO:0005096 GTPase activator activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding NAS
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0070411 I-SMAD binding IEA


Pathways (from Reactome)
Pathway description
TCF dependent signaling in response to WNT
Binding of TCF/LEF:CTNNB1 to target gene promoters
Degradation of AXIN
Ub-specific processing proteases


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:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000677 Oligodontia "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators]
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 HP:0000691 Microdontia 
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 HP:0002209 Sparse scalp hair "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson]
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 HP:0002891 Uterine leiomyosarcoma 
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 HP:0005227 Multiple adenomatous colon polyps 
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 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
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 HP:0006716 Hereditary nonpolyposis colorectal carcinoma 
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 HP:0006740 Transitional cell carcinoma of the bladder 
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 HP:0006753 Increased gastric cancer 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000108854 Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000173273 TNKS / O95271 / tankyrase  / complex / reaction
 ENSG00000107854 TNKS2 / Q9H2K2 / tankyrase 2  / reaction / complex
 ENSG00000118518 Q9NTX7 / RNF146 / ring finger protein 146  / complex / reaction
 ENSG00000115464 USP34 / Q70CQ2 / ubiquitin specific peptidase 34  / reaction






 

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