IPO5

importin 5, the group of TOG domain containing|Importins

Basic information

Region (hg38): 13:97953658-98024296

Previous symbols: [ "KPNB3", "RANBP5" ]

Links

ENSG00000065150 ∙ NCBI:3843 ∙ OMIM:602008 ∙ HGNC:6402 ∙ Uniprot:O00410 ∙ 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 IPO5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IPO5 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					2	2
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2		2
Total	0	0	2	2	2

Variants in IPO5

This is a list of pathogenic ClinVar variants found in the IPO5 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-97976720-G-T		not specified	Uncertain significance (Jun 18, 2021)
13-97990441-G-A			Benign (Sep 10, 2018)
13-98006149-A-G		not specified	Uncertain significance (Sep 17, 2021)
13-98006356-A-ATTTTT			Likely benign (Jan 01, 2023)
13-98006356-A-ATTTTTT			Likely benign (Jan 01, 2023)
13-98018634-G-A			Benign (Jul 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IPO5	protein_coding	protein_coding	ENST00000261574	27	70640

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.30e-8	124994	0	37	125031	0.000148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.36	371	603	0.615	0.0000312	7383
Missense in Polyphen		90	209.43	0.42973		2583
Synonymous	-0.683	231	218	1.06	0.0000124	2038
Loss of Function	7.02	3	63.3	0.0474	0.00000312	753

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000154	0.000153
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000380	0.000370
European (Non-Finnish)	0.000230	0.000221
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000174	0.000164

dbNSFP

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 ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. Binds to CPEB3 and mediates its nuclear import following neuronal stimulation (By similarity). In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. {ECO:0000250|UniProtKB:Q8BKC5, ECO:0000269|PubMed:9687515}.
• Pathway: Disease;vRNP Assembly;Influenza Viral RNA Transcription and Replication;Influenza Life Cycle;Influenza Infection;Infectious disease (Consensus)

Recessive Scores

• pRec: 0.237

Intolerance Scores

• loftool: 0.156
• rvis_EVS: -0.91
• rvis_percentile_EVS: 10.03

Haploinsufficiency Scores

• pHI: 0.975
• hipred: Y
• hipred_score: 0.785
• ghis: 0.641

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.713

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ipo5

Gene ontology

• Biological process: NLS-bearing protein import into nucleus;ribosomal protein import into nucleus;viral process;negative regulation of GTPase activity;positive regulation of protein import into nucleus;negative regulation of cyclin-dependent protein serine/threonine kinase activity;cellular response to amino acid stimulus
• Cellular component: nucleus;nuclear pore;nucleolus;cytoplasm;membrane;nuclear membrane;nuclear periphery
• Molecular function: RNA binding;GTPase inhibitor activity;protein binding;nuclear localization sequence binding;Ran GTPase binding;protein transporter activity