TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2
Gene ID: 23118, updated on 17-Jun-2024Gene type: protein coding
Also known as: CHTD2; TAB-2; MAP3K7IP2
- See all available tests in GTR for this gene
- Go to complete Gene record for TAB2
- Go to Variation Viewer for TAB2 variants
Summary
The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital heart defects, multiple types, 2 | See labs |
| Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. GeneReviews: Not available | |
| Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. GeneReviews: Not available | |
| Genome-wide meta-analysis for severe diabetic retinopathy. GeneReviews: Not available | |
| Wnt signaling and Dupuytren's disease. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-05-27) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2020-05-27) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 6q25.1
- Sequence:
- Chromosome: 6; NC_000006.12 (149217926..149411607)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TAB2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TAB2 database
- Variation ViewerRelated Variants
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