IPO11

protein-coding

importin 11, the group of Importins

Gene summary

Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]

MANE transcript

NM_016338.5

Inheritance

—

ClinVar variants

U:115B:12

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr5:62,403,972-62,628,582

External References & Databases

Ensembl (ENSG00000086200)

Transcript & Mutation Effects

hg38 • Region Span ~224.6 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 IPO11 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 200

not providedTotal: 10

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

Congenital hydrocephalusTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016338.5. 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				1 clinvar	6 clinvar	7
missense			111 clinvar	4 clinvar	1 clinvar	116
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	115	5	7	127

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 40 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016338.5	RefSeq	NP_057422.3	29	MANE Select
ENST00000325324.11	Ensembl	ENSP00000316651.6	29	MANE Select
NM_001134779.2	RefSeq	NP_001128251.1	30	Standard
ENST00000409296.7	Ensembl	ENSP00000386992.3	30	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein import into nucleus
ribosomal protein import into nucleus

Molecular Function

protein binding
Ran GTPase binding
protein transporter activity

Cellular Component

fibrillar center
nucleus
nuclear envelope
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000409296
Coding exons: 30
Length: 224611
Individuals with no LoFs: 125723
Homozygous LoFs: 0
Heterozygous LoFs: 24
Defined: 125747
p: 0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.37	419	506	0.828	0.0000243	6650
Missense (PolyPhen)		93	155.4	0.59847		2116
Synonymous	0.531	165	174	0.949	0.00000830	1861
Loss of Function	5.31	18	63.8	0.282	0.00000340	774

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00017	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00010	0.000097	rare
South Asian	0.00011	0.000098	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBE2E3, and of RPL12 (By similarity). {ECO:0000250, ECO:0000269|PubMed:11032817}.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.773
RVIS EVS: -0.53
RVIS percentile EVS: 20.86

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.864

Gene Damage Prediction

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