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: 374354
MIM: 618277
HGNC: 24731
Ensembl: ENSG00000196865
Variants:
dbSNP: 374354
ClinVar: 374354
TCGA: ENSG00000196865
COSMIC: NHLRC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196865 | ENST00000369301 | Q8NBF2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37188825 | 2023 | Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. | 1 |
| 37188825 | 2023 | Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. | 1 |
| 35964085 | 2022 | NHLRC2 expression is increased in idiopathic pulmonary fibrosis. | 3 |
| 35964085 | 2022 | NHLRC2 expression is increased in idiopathic pulmonary fibrosis. | 3 |
| 32435055 | 2020 | Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. | 8 |
| 32435055 | 2020 | Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. | 8 |
| 29423877 | 2018 | NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. | 13 |
| 30138417 | 2018 | Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. | 10 |
| 30239752 | 2018 | Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. | 11 |
| 29423877 | 2018 | NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. | 13 |
| 30138417 | 2018 | Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. | 10 |
| 30239752 | 2018 | Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. | 11 |
| 29242562 | 2017 | ROS-induced cleavage of NHLRC2 by caspase-8 leads to apoptotic cell death in the HCT116 human colon cancer cell line. | 26 |
| 29242562 | 2017 | ROS-induced cleavage of NHLRC2 by caspase-8 leads to apoptotic cell death in the HCT116 human colon cancer cell line. | 26 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
Citation
Dessen P
NHLRC2 (NHL repeat containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57729/nhlrc2-(nhl-repeat-containing-2)
