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: 154288
MIM: 611687
HGNC: 33699
Ensembl: ENSG00000203908
Variants:
dbSNP: 154288
ClinVar: 154288
TCGA: ENSG00000203908
COSMIC: KHDC3L
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000203908 | ENST00000370367 | Q587J8 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37918946 | 2023 | Familial recurrent molar pregnancy: positive for KHDC3L gene mutation. | 0 |
| 37918946 | 2023 | Familial recurrent molar pregnancy: positive for KHDC3L gene mutation. | 0 |
| 35643636 | 2022 | Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. | 5 |
| 35643636 | 2022 | Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. | 5 |
| 33639414 | 2021 | KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole. | 2 |
| 33639414 | 2021 | KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole. | 2 |
| 31220306 | 2019 | NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles. | 3 |
| 31609975 | 2019 | KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells. | 21 |
| 31220306 | 2019 | NLRP7 and KHDC3L variants in Chinese patients with recurrent hydatidiform moles. | 3 |
| 31609975 | 2019 | KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells. | 21 |
| 29463882 | 2018 | The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients. | 19 |
| 29463882 | 2018 | The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients. | 19 |
| 27917907 | 2016 | ECAT1 is essential for human oocyte maturation and pre-implantation development of the resulting embryos. | 7 |
| 27917907 | 2016 | ECAT1 is essential for human oocyte maturation and pre-implantation development of the resulting embryos. | 7 |
| 25358348 | 2015 | NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton. | 30 |
Citation
Dessen P
KHDC3L (KH domain containing 3 like, subcortical maternal complex member)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64844/khdc3l-(kh-domain-containing-3-like-subcortical-maternal-complex-member)
