Identity
HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
2E4,KICS4,MRT41
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: 11133
MIM: 615620
HGNC: 6404
Ensembl: ENSG00000118162
Variants:
dbSNP: 11133
ClinVar: 11133
TCGA: ENSG00000118162
COSMIC: KPTN
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37311648 | 2023 | Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. | 0 |
| 37311648 | 2023 | Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. | 0 |
| 32358097 | 2020 | Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. | 3 |
| 32808430 | 2020 | Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. | 3 |
| 32358097 | 2020 | Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. | 3 |
| 32808430 | 2020 | Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. | 3 |
| 28199306 | 2017 | KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. | 159 |
| 28199306 | 2017 | KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. | 159 |
| 24239382 | 2014 | Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. | 23 |
| 24239382 | 2014 | Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. | 23 |
Citation
Dessen P
KPTN (kaptin, actin binding protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64997/kptn-(kaptin-actin-binding-protein)
