NXF2
protein-codingnuclear RNA export factor 2
Gene summary
This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog of this gene located adjacent on chromosome X and on the opposite strand. [provided by RefSeq, Aug 2013]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~79.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to NXF2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_022053.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 3 | ||||
| missense | 12 | 6 | 18 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 12 | 9 | 1 | 22 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_071336.1 | 21 | MANE Select | |
| Ensembl | ENSP00000485586.2 | 21 | MANE Select | |
| Ensembl | ENSP00000474598.2 | 21 | Standard | |
| Ensembl | ENSP00000474598.2 | 21 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Influenza A - Homo sapiens (human)
- Ribosome biogenesis in eukaryotes - Homo sapiens (human)
- mRNA surveillance pathway - Homo sapiens (human)
- RNA transport - Homo sapiens (human)
- Herpes simplex infection - Homo sapiens (human)
Biological Process
- mRNA export from nucleus
- multicellular organism development
- poly(A)+ mRNA export from nucleus
- RNA transport
Molecular Function
- RNA binding
Cellular Component
- nucleus
- nucleoplasm
- cytoplasm
- cytosol
- nuclear RNA export factor complex
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Involved in the export of mRNA from the nucleus to the cytoplasm.;
Recessive Scores
- pRec
- 0.0939
Essentials
- Essential (CRISPR)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.237