Identity
HGNC
LOCATION
6q25.1
LOCUSID
ALIAS
CHTD2,MAP3K7IP2,TAB-2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23118
MIM: 605101
HGNC: 17075
Ensembl: ENSG00000228408
Variants:
dbSNP: 23118
ClinVar: 23118
TCGA: ENSG00000228408
COSMIC: TAB2
RNA/Proteins
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA131301952 | gefitinib | Chemical | ClinicalAnnotation | associated | PD | 31664190 | |
| PA443899 | Diarrhea | Disease | ClinicalAnnotation | associated | PD | 31664190 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34741306 | 2022 | TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay. | 6 |
| 34906501 | 2022 | Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement. | 2 |
| 34995729 | 2022 | There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome. | 2 |
| 35871735 | 2022 | [Association Between TAB2 Gene Polymorphisms and Susceptibility to Cryptorchidism in Han Chinese Population in Southwest China]. | 0 |
| 35971781 | 2022 | Expanding the phenotype of TAB2 variants and literature review. | 1 |
| 35978886 | 2022 | TAB2 Promotes the Biological Functions of Head and Neck Squamous Cell Carcinoma Cells via EMT and PI3K Pathway. | 2 |
| 36000780 | 2022 | Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family. | 1 |
| 34741306 | 2022 | TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay. | 6 |
| 34906501 | 2022 | Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement. | 2 |
| 34995729 | 2022 | There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome. | 2 |
| 35871735 | 2022 | [Association Between TAB2 Gene Polymorphisms and Susceptibility to Cryptorchidism in Han Chinese Population in Southwest China]. | 0 |
| 35971781 | 2022 | Expanding the phenotype of TAB2 variants and literature review. | 1 |
| 35978886 | 2022 | TAB2 Promotes the Biological Functions of Head and Neck Squamous Cell Carcinoma Cells via EMT and PI3K Pathway. | 2 |
| 36000780 | 2022 | Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family. | 1 |
| 33535081 | 2021 | Circ_AFF2 facilitates proliferation and inflammatory response of fibroblast-like synoviocytes in rheumatoid arthritis via the miR-375/TAB2 axis. | 14 |
Citation
Dessen P
TAB2 (TGF-beta activated kinase 1 (MAP3K7) binding protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2010-02-01
Online version: http://atlasgeneticsoncology.org/gene/43345/tab2
