Identity
HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
C19orf63,HSM1,HSS1,NEDDFAS
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: 284361
MIM: 614545
HGNC: 27609
Ensembl: ENSG00000161671
Variants:
dbSNP: 284361
ClinVar: 284361
TCGA: ENSG00000161671
COSMIC: EMC10
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35124540 | 2022 | The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment. | 3 |
| 35684946 | 2022 | Biallelic loss of EMC10 leads to mild to severe intellectual disability. | 1 |
| 36077468 | 2022 | Membrane-Bound EMC10 Is Required for Sperm Motility via Maintaining the Homeostasis of Cytoplasm Sodium in Sperm. | 0 |
| 36443308 | 2022 | Secreted EMC10 is upregulated in human obesity and its neutralizing antibody prevents diet-induced obesity in mice. | 4 |
| 35124540 | 2022 | The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment. | 3 |
| 35684946 | 2022 | Biallelic loss of EMC10 leads to mild to severe intellectual disability. | 1 |
| 36077468 | 2022 | Membrane-Bound EMC10 Is Required for Sperm Motility via Maintaining the Homeostasis of Cytoplasm Sodium in Sperm. | 0 |
| 36443308 | 2022 | Secreted EMC10 is upregulated in human obesity and its neutralizing antibody prevents diet-induced obesity in mice. | 4 |
| 33531666 | 2021 | A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. | 12 |
| 34414886 | 2021 | An engineered transcriptional reporter of protein localization identifies regulators of mitochondrial and ER membrane protein trafficking in high-throughput CRISPRi screens. | 12 |
| 33531666 | 2021 | A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. | 12 |
| 34414886 | 2021 | An engineered transcriptional reporter of protein localization identifies regulators of mitochondrial and ER membrane protein trafficking in high-throughput CRISPRi screens. | 12 |
| 32869858 | 2020 | EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. | 16 |
| 32869858 | 2020 | EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. | 16 |
| 29659949 | 2018 | EMC10 governs male fertility via maintaining sperm ion balance. | 15 |
Citation
Dessen P
EMC10 (ER membrane protein complex subunit 10)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/53950/gene-fusions/new-content/
