Version 5.4
Homo sapiens Gene: FAM123B
Summary
InnateDB Gene IDBG-73111.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FAM123B
Gene Name family with sequence similarity 123B
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000184675
Encoded Proteins
IDBP-73113
family with sequence similarity 123B
IDBP-73115
family with sequence similarity 123B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:64185117-64205744
Strand Reverse strand
Band q11.2
Transcripts
ENST00000374869 ENSP00000364003
ENST00000330258 ENSP00000329117
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 15 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0008013 beta-catenin binding
Biological Process
GO:0001822 kidney development
GO:0016055 Wnt signaling pathway
GO:0060348 bone development
GO:0060612 adipose tissue development
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0072161 mesenchymal cell differentiation involved in kidney development
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000050332
View Gene Order
ENSBTAG00000008839
Not yet available
Pathways
NETPATH
REACTOME
REACT_11065
Beta-catenin phosphorylation cascade pathway
REACT_11063
Degradation of beta-catenin by the destruction complex pathway
REACT_228216
truncated APC mutants destabilize the destruction complex pathway
REACT_228098
AXIN mutants destabilize the destruction complex, activating WNT signaling pathway
REACT_228143
APC truncation mutants are not K63 polyubiquitinated pathway
REACT_228243
AMER1 mutants destabilize the destruction complex pathway
REACT_228096
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
REACT_228331
Signaling by WNT in cancer pathway
REACT_228285
AXIN missense mutants destabilize the destruction complex pathway
REACT_11045
Signaling by Wnt pathway
REACT_200610
disassembly of the destruction complex and recruitment of AXIN to the membrane pathway
REACT_228196
APC truncation mutants have impaired AXIN binding pathway
REACT_228261
T41 mutants of beta-catenin aren't phosphorylated pathway
REACT_111102
Signal Transduction pathway
REACT_228314
misspliced GSK3beta mutants stabilize beta-catenin pathway
REACT_228137
S45 mutants of beta-catenin aren't phosphorylated pathway
REACT_228048
deletions in the AMER1 gene destabilize the destruction complex pathway
REACT_228159
S33 mutants of beta-catenin aren't phosphorylated pathway
REACT_228060
truncations of AMER1 destabilize the destruction complex pathway
REACT_228229
phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex pathway
REACT_200777
TCF dependent signaling in response to WNT pathway
REACT_228112
deletions in the AXIN genes in hepatocellular carcinoma result in elevated WNT signaling pathway
REACT_228188
RNF mutants show enhanced WNT signaling and proliferation pathway
REACT_228223
TCF7L2 mutants don't bind CTBP pathway
REACT_228279
XAV939 inhibits tankyrase, stabilizing AXIN pathway
REACT_228251
S37 mutants of beta-catenin aren't phosphorylated pathway
REACT_116125
Disease pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q5JTC6
TrEMBL
UniProt Splice Variant
Entrez Gene 139285
UniGene Hs.314225
RefSeq NM_152424
HUGO HGNC:26837
OMIM 300647
CCDS CCDS14377
HPRD
IMGT
EMBL AK097146 AL355852 EF186024
GenPept ABM60755 BAC04964 CAI40637 CAO03539
RNA Seq Atlas 139285

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca