IPO4

importin 4, the group of Importins|TOG domain containing

Basic information

Region (hg38): 14:24180219-24188869

Links

ENSG00000196497 ∙ NCBI:79711 ∙ ∙ HGNC:19426 ∙ Uniprot:Q8TEX9 ∙ 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 IPO4 gene.

• not_specified (160 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IPO4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024658.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	1	4
missense			157	2	2	161
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	157	5	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IPO4	protein_coding	protein_coding	ENST00000354464	30	8746

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.03e-18	0.951	124758	0	95	124853	0.000381

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	545	622	0.876	0.0000361	6858
Missense in Polyphen		123	150.64	0.81652		1713
Synonymous	-0.191	274	270	1.01	0.0000160	2267
Loss of Function	2.48	38	58.5	0.650	0.00000293	668

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000409	0.000402
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.000223	0.000222
Finnish	0.000232	0.000232
European (Non-Finnish)	0.000556	0.000547
Middle Eastern	0.000223	0.000222
South Asian	0.000363	0.000360
Other	0.000338	0.000329

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 RPS3A. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. {ECO:0000250, ECO:0000269|PubMed:11823430}.
• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase (Consensus)

Recessive Scores

• pRec: 0.276

Intolerance Scores

• loftool: 0.764
• rvis_EVS: -0.46
• rvis_percentile_EVS: 23.73

Haploinsufficiency Scores

• pHI: 0.359
• hipred: Y
• hipred_score: 0.678
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.995

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ipo4

Gene ontology

• Biological process: DNA replication-dependent nucleosome assembly;DNA replication-independent nucleosome assembly;protein import into nucleus;NLS-bearing protein import into nucleus;ribosomal protein import into nucleus
• Cellular component: nuclear chromatin;cytoplasm;membrane;nuclear membrane;protein-containing complex;nuclear periphery
• Molecular function: protein binding;nuclear localization sequence binding;Ran GTPase binding;protein transporter activity