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: 283677
MIM: 618421
HGNC: 25065
Ensembl: ENSG00000183324
Variants:
dbSNP: 283677
ClinVar: 283677
TCGA: ENSG00000183324
COSMIC: REC114
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000183324 | ENST00000331090 | Q7Z4M0 |
| ENSG00000183324 | ENST00000560581 | H0YKR2 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38148155 | 2024 | A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia. | 0 |
| 38148155 | 2024 | A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia. | 0 |
| 31704776 | 2020 | Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. | 19 |
| 31704776 | 2020 | Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. | 19 |
| 28100913 | 2017 | Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications. | 8 |
| 28100913 | 2017 | Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications. | 8 |
Citation
Dessen P
REC114 (REC114 meiotic recombination protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72567/rec114-(rec114-meiotic-recombination-protein)
