IKZF5

IKAROS family zinc finger 5, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:122990807-123008812

Previous symbols: [ "ZNFN1A5" ]

Links

ENSG00000095574 ∙ NCBI:64376 ∙ OMIM:606238 ∙ HGNC:14283 ∙ Uniprot:Q9H5V7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autosomal thrombocytopenia with normal platelets (Supportive), mode of inheritance: AD
• thrombocytopenia 7 (Strong), mode of inheritance: AD
• thrombocytopenia 7 (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Thrombocytopenia 7	AD	Hematologic	Some individuals have been described with severe bleeding episodes, and awareness may allow precautions and prompt management of bleeding episodes	Hematologic	31217188; 32419556

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IKZF5 gene.

• Thrombocytopenia_7 (9 variants)
• not_provided (8 variants)
• not_specified (2 variants)
• Mitochondrial_complex_I_deficiency,_nuclear_type_29 (1 variants)
• IKZF5-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IKZF5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001372123.1. 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				2		2
missense	2	5	11	1		19
nonsense		1				1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	2	6	11	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IKZF5	protein_coding	protein_coding	ENST00000368886	3	18012

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.780	0.220	124792	0	2	124794	0.00000801

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.89	155	237	0.654	0.0000125	2804
Missense in Polyphen		37	85.245	0.43404		1021
Synonymous	0.869	73	83.1	0.879	0.00000452	789
Loss of Function	2.94	2	13.8	0.145	7.88e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DNA-binding protein that binds to the 5'GNNTGTNG-3' core sequence. Transcriptional repressor. {ECO:0000269|PubMed:10978333}.

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.229
• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.474
• hipred: Y
• hipred_score: 0.673
• ghis: 0.670

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.896

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ikzf5
• Phenotype: immune system phenotype; hearing/vestibular/ear phenotype; hematopoietic system phenotype

Zebrafish Information Network

• Gene name: ikzf5
• Affected structure: pancreas
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;positive regulation of transcription by RNA polymerase II;protein heterooligomerization
• Cellular component: nucleoplasm;protein-containing complex
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;zinc ion binding;protein domain specific binding;transcription regulatory region DNA binding