NXF2

nuclear RNA export factor 2

Basic information

Region (hg38): X:102247166-102326722

Links

ENSG00000269405 ∙ NCBI:56001 ∙ OMIM:300315 ∙ HGNC:8072 ∙ Uniprot:Q9GZY0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NXF2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NXF2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			4	2		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)					1	1
splice region						0
non coding						0
Total	0	0	4	3	1

Variants in NXF2

This is a list of pathogenic ClinVar variants found in the NXF2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-102317089-A-G		not specified	Uncertain significance (Sep 14, 2022)
X-102317438-G-A		not specified	Likely benign (Nov 21, 2023)
X-102321860-G-A		not specified	Likely benign (Apr 15, 2024)
X-102321861-C-T		not specified	Uncertain significance (Feb 22, 2023)
X-102321880-G-C		not specified	Uncertain significance (Dec 08, 2023)
X-102321884-T-C		not specified	Likely benign (Apr 25, 2023)
X-102321892-G-A			Benign (Mar 18, 2021)
X-102326488-G-A		not specified	Uncertain significance (Jan 31, 2022)
X-102326490-G-A			Likely benign (Dec 31, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the export of mRNA from the nucleus to the cytoplasm.
• Pathway: 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);Metabolism of RNA;Transport of Mature mRNA derived from an Intron-Containing Transcript;Transport of Mature Transcript to Cytoplasm;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.0939

Haploinsufficiency Scores

• pHI: 0.146
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.237

Gene ontology

• Biological process: mRNA export from nucleus;multicellular organism development;poly(A)+ mRNA export from nucleus;RNA transport
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;nuclear RNA export factor complex
• Molecular function: RNA binding