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: 340533
MIM: 300524
HGNC: 29433
Ensembl: ENSG00000050030
Variants:
dbSNP: 340533
ClinVar: 340533
TCGA: ENSG00000050030
COSMIC: NEXMIF
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000050030 | ENST00000055682 | Q5QGS0 |
| ENSG00000050030 | ENST00000424929 | H7C2N8 |
| ENSG00000050030 | ENST00000616200 | Q5QGS0 |
| ENSG00000050030 | ENST00000642681 | A0A2R8YEQ5 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34326501 | 2022 | Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation. | 0 |
| 35146903 | 2022 | NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent. | 1 |
| 35545418 | 2022 | NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review. | 0 |
| 36170093 | 2022 | [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene]. | 0 |
| 34326501 | 2022 | Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation. | 0 |
| 35146903 | 2022 | NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent. | 1 |
| 35545418 | 2022 | NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review. | 0 |
| 36170093 | 2022 | [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene]. | 0 |
| 33144681 | 2021 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | 17 |
| 33144681 | 2021 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | 17 |
| 32600841 | 2020 | Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients. | 4 |
| 32600841 | 2020 | Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients. | 4 |
| 29693785 | 2018 | Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature. | 11 |
| 29717186 | 2018 | Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. | 9 |
| 29693785 | 2018 | Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature. | 11 |
Citation
Dessen P
NEXMIF (neurite extension and migration factor)
Atlas Genet Cytogenet Oncol Haematol. 2017-09-01
Online version: http://atlasgeneticsoncology.org/gene/79981/nexmif-(neurite-extension-and-migration-factor)
