| Entrez Gene ID | 89857 |
|---|---|
| Official Gene Symbol | KLHL6 (GeneCards) |
| Full name | kelch like family member 6 |
| Location | 3q27.1 |
| Other ids | Vega : OTTHUMG00000148673 MIM : 614214 HGNC : HGNC:18653 Ensembl : ENSG00000172578 |
| Other names | None |
| Summary | This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 817 | 89857 | KLHL6 | 3 | 183211898 | 183211898 | Human Skin Fibroblasts | HiSeq 2500 |
| 818 | 89857 | KLHL6 | 3 | 183211899 | 183211899 | Human Skin Fibroblasts | HiSeq 2500 |
| 5595 | 89857 | KLHL6 | 3 | 183287350 | 183287350 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 5884 | 89857 | KLHL6 | 3 | 183342184 | 183342184 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
| 25043 | 89857 | KLHL6 | 3 | 183351767 | 183351767 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25087 | 89857 | KLHL6 | 3 | 183351767 | 183351767 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25171 | 89857 | KLHL6 | 3 | 183351767 | 183351767 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25244 | 89857 | KLHL6 | 3 | 183351767 | 183351767 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |