Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| FAM123B | 139285 | Family with sequence similarity 123B | X | WTX; OSCS; FAM123B; RP11-403E24.2 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 17510365 | 2007 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | Tissue culture, Tandem-affinity protein purification and mass spectrometry | Mutation | - | WTX promotes beta-catenin ubiquitination and degradation, which antagonize WNT/beta-catenin signaling. |
| 18720004 | 2009 | Cell line : - Source : Korean Patients Sample Type : - No. of Sample : 47 gastric adenocarcinomas, 47 colorectal adenocarcinomas, and 47 hepatocellular carcinomas Stage : - | SSCP and PCR. | Mutation | - | Deregulation of Wnt/ beta-catenin signaling by WTX gene mutation may be a rare event in the pathogenesis of colorectal, gastric, and hepatocellular carcinomas. Analyzed the WTX gene for the detection of mutations in 141 cancer tissues. |
| 20696052 | 2010 | Cell line : RKO, LoVo, SW 480, Caco 2, DLD 1, HCT 15, HCT 116, LS 174T and HT 29 Source : Ludwig-Maximilians-University Mnchen, ATCC Sample Type : Formalin-fixed, paraffin-embedded metastatic CRCs No. of Sample : 632 Stage : TNM Stag IV | Fluorescence capillary electrophoresis (FCE), Didesoxy-sequencing, Fragment analysis, pyro-sequencing | Mutation | - | Mutations in the WTX-gene might compromise the function of the beta-CATENIN destruction complex in only a small fraction of MSI-H CRCs thus contributing to the process of carcinogenesis. 632 formalin-fixed, paraffin-embedded metastatic CRCs (UICCIV) and analyzed for MSI-H. |
| 22810696 | 2012 | Cell line : - Source : BCR Sample Type : CRC tumor and normal tissue No. of Sample : 224 Stage : - | Affymetrix SNP 6.0 microarrays, whole-genome sequencing , Gene-expression profiles by Agilent microa | Mutation | - | CTNNB1, SMAD2, FAM123B (also known as WTX) and SOX9 were mutated frequently. |
| 26071483 | 2015 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 42 stage II, microsatellite-stable colon tumors and their paired mucosae Stage : TNM stage II | Sequencing | Mutation | - | In silico and experimental validation in independent datasets confirmed the existence of functional mutations in AMER1 in approximately 10% of analyzed colorectal cancer tumors. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010] |
| Chromosome | X |
| Location | Xq11.2 |
| Start | 64185117 |
| End | 64206398 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 21282 |
| OMIM ID | 300647 |
| HGNC ID | HGNC:26837 |
| Unigene ID | Hs.314225 |
| Ensembl ID | ENSG00000184675 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | NM_152424.3 |
|---|---|
| Exon | join(655..829,13015..21282) | mRNA Sequence | Download Select all |
| Length | 8443 |
Protein Information
| Protein ID | NP_689637.3 |
|---|---|
| Protein Name | Family with sequence similarity 123B |
| Molecular Wt. (Da) | 123899 |
| Protein Sequence | Download Select all |
| Length | 1135 |
| Uniprot ID | Q9BYC5 |
| Ensembl Protein ID | ENSP00000345865 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| T | Phosphorylation | 242 |
| S | Phosphorylation | 246 |
| T | Phosphorylation | 250 |
| S | Phosphorylation | 161 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam09422 | 95-539 | WTX |
| pfam15346 | 576-660 | ARGLU |
| PHA03269 | 204-300 | PHA03269 |
| pfam05276 | 564-659 | SH3BP5 |
| PHA03247 | 112-312 | PHA03247 |
| pfam11180 | 572-650 | DUF2968 |
| COG3170 | 144-284 | FimV |
| pfam13868 | 553-651 | Trichoplein |
| PRK03427 | 192-284 | PRK03427 |
| pfam00769 | 553-648 | ERM |
Ontology Information
| HPRD ID | 662 |
|---|---|
| Molecular Class | Unknown |
| Molecular Function | Extracellular ligand-gated ion channel activity (GO:0005230) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.