IPO7

importin 7, the group of Small nucleolar RNA protein coding host genes|Importins

Basic information

Region (hg38): 11:9384652-9448127

Previous symbols: [ "RANBP7" ]

Links

ENSG00000205339

∙ NCBI:10527 ∙ OMIM:605586 ∙ HGNC:9852 ∙ Uniprot:O95373 ∙ 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 IPO7 gene.

not_specified (73 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IPO7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006391.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			72 clinvar			72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IPO7	protein_coding	protein_coding	ENST00000379719	25	63505

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	9.93e-9	125664	0	4	125668	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.53	306	536	0.571	0.0000256	6909
Missense in Polyphen		57	145.48	0.3918		1963
Synonymous	-0.721	192	180	1.07	0.00000868	1850
Loss of Function	6.92	2	59.6	0.0335	0.00000287	721

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000674	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000181	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to 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. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with KPNB1 mediates the nuclear import of H1 histone and the Ran-binding site of IPO7 is not required but synergizes with that of KPNB1 in importin/substrate complex dissociation. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. {ECO:0000269|PubMed:10228156, ECO:0000269|PubMed:9687515}.;

Recessive Scores

pRec: 0.286

Intolerance Scores

loftool: 0.0305
rvis_EVS: -0.71
rvis_percentile_EVS: 14.5

Haploinsufficiency Scores

pHI: 0.849
hipred: Y
hipred_score: 0.739
ghis: 0.631

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.955

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ipo7
Phenotype

Gene ontology

Biological process: protein import into nucleus;signal transduction;viral process;innate immune response;negative regulation of cyclin-dependent protein serine/threonine kinase activity
Cellular component: nuclear envelope;nuclear pore;nucleoplasm;cytosol;membrane
Molecular function: transporter activity;protein binding;Ran GTPase binding;protein transporter activity;GTPase regulator activity;histone binding;SMAD binding