XPO6

protein-coding

exportin 6, the group of Exportins

Gene summary

The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

Previous symbols:

RANBP20

MANE transcript

NM_015171.4

Inheritance

—

ClinVar variants

U:118B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.02

Max pathogenic AF

—

Genomic locus

chr16:28,097,976-28,211,965

External References & Databases

Ensembl (ENSG00000169180)

Transcript & Mutation Effects

hg38 • Region Span ~114.0 kb

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GenCC 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 XPO6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015171.4. 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 clinvar	1 clinvar	1 clinvar	5
missense			107 clinvar			107
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	118	1	1	120

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015171.4	RefSeq	NP_055986.1	24	MANE Select
ENST00000304658.10	Ensembl	ENSP00000302790.4	24	MANE Select
NM_001270940.2	RefSeq	NP_001257869.1	23	Standard
ENST00000564905.1	Ensembl	ENSP00000455310.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Purine metabolism

Biological Process

protein export from nucleus

Molecular Function

protein binding
Ran GTPase binding
protein transporter activity

Cellular Component

nucleus
nucleolus
cytoplasm
cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000304658
Coding exons: 24
Length: 113942
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.48	396	645	0.614	0.0000375	7384
Missense (PolyPhen)		57	159.98	0.3563		1995
Synonymous	-0.182	268	264	1.01	0.0000159	2201
Loss of Function	6.92	1	57.8	0.0173	0.00000295	659

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Mediates the nuclear export of actin and profilin-actin complexes in somatic cells. {ECO:0000269|PubMed:14592989}.;

Recessive Scores

pRec: 0.110

Intolerance Scores

LoFtool: 0.106
RVIS EVS: -0.75
RVIS percentile EVS: 13.71

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.840

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium