NXF5 (nuclear RNA export factor 5)

2014-11-01 Affiliation

Identity

HGNC

NXF5

LOCATION

Xq22.1

LOCUSID

55998

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: 55998
MIM: 300319
HGNC: 8075
Ensembl: ENSG00000126952

Variants:

dbSNP: 55998
ClinVar: 55998
TCGA: ENSG00000126952
COSMIC: NXF5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000126952	ENST00000473265	Q9H1B4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
RNA transport	KEGG	ko03013
RNA transport	KEGG	hsa03013
mRNA surveillance pathway	KEGG	ko03015
mRNA surveillance pathway	KEGG	hsa03015
Ribosome biogenesis in eukaryotes	KEGG	ko03008
Ribosome biogenesis in eukaryotes	KEGG	hsa03008
Influenza A	KEGG	ko05164
Influenza A	KEGG	hsa05164
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23686279	2013	Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.	9
12784308	2003	Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.	7

Citation

Dessen P

NXF5 (nuclear RNA export factor 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71063/nxf5