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: 80776
MIM: 611951
HGNC: 28636
Ensembl: ENSG00000123810
Variants:
dbSNP: 80776
ClinVar: 80776
TCGA: ENSG00000123810
COSMIC: B9D2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000123810 | ENST00000243578 | Q9BPU9 |
| ENSG00000123810 | ENST00000594416 | M0QY88 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32726168 | 2020 | Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins. | 13 |
| 32726168 | 2020 | Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins. | 13 |
| 19692168 | 2010 | Genetic susceptibility to distinct bladder cancer subphenotypes. | 30 |
| 21054877 | 2010 | Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. | 10 |
| 19692168 | 2010 | Genetic susceptibility to distinct bladder cancer subphenotypes. | 30 |
| 21054877 | 2010 | Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. | 10 |
| 18936436 | 2009 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | 42 |
| 19208769 | 2009 | Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. | 44 |
| 18936436 | 2009 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | 42 |
| 19208769 | 2009 | Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. | 44 |
| 17127412 | 2007 | Identification of ICIS-1, a new protein involved in cilia stability. | 7 |
| 17127412 | 2007 | Identification of ICIS-1, a new protein involved in cilia stability. | 7 |
| 17127412 | 2007 | Identification of ICIS-1, a new protein involved in cilia stability. | 7 |
| 17127412 | 2007 | Identification of ICIS-1, a new protein involved in cilia stability. | 7 |
Citation
Dessen P
B9D2 (B9 domain containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60692/submit-meetings/
