IKZF5 (IKAROS family zinc finger 5)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64376
• Gene name: IKAROS family zinc finger 5
• Gene symbol: IKZF5
• Synonyms (NCBI Gene): PEGASUS, THC7, ZNFN1A5
• Chromosome: 10
• Chromosome location: 10q26.13
• Summary: Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]

miRNA Show/Hide all (114)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050501	hsa-miR-20a-5p	CLASH	23622248
MIRT036641	hsa-miR-935	CLASH	23622248
MIRT657189	hsa-miR-6074	HITS-CLIP	23824327
MIRT657188	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT657187	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT657186	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT657185	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT657184	hsa-miR-550b-3p	HITS-CLIP	23824327
MIRT657183	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT536702	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT536701	hsa-miR-548ab	PAR-CLIP	22012620
MIRT536700	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT536699	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT536698	hsa-miR-548ak	PAR-CLIP	22012620
MIRT536697	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT536696	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT536695	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT536694	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT536693	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT536692	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT536691	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT536690	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT536689	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT536688	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT536687	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT536686	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT536685	hsa-miR-548i	PAR-CLIP	22012620
MIRT536684	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT536683	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT536682	hsa-miR-548w	PAR-CLIP	22012620
MIRT536681	hsa-miR-548y	PAR-CLIP	22012620
MIRT536680	hsa-miR-559	PAR-CLIP	22012620
MIRT536678	hsa-miR-3973	PAR-CLIP	22012620
MIRT536679	hsa-miR-520g-3p	PAR-CLIP	22012620
MIRT536677	hsa-miR-520h	PAR-CLIP	22012620
MIRT536675	hsa-miR-8078	PAR-CLIP	22012620
MIRT536676	hsa-miR-1287-3p	PAR-CLIP	22012620
MIRT536674	hsa-miR-607	PAR-CLIP	22012620
MIRT536673	hsa-miR-1305	PAR-CLIP	22012620
MIRT536672	hsa-miR-335-3p	PAR-CLIP	22012620
MIRT445971	hsa-miR-651-3p	PAR-CLIP	22100165
MIRT445970	hsa-miR-4476	PAR-CLIP	22100165
MIRT445968	hsa-miR-6876-5p	PAR-CLIP	22100165
MIRT445969	hsa-miR-1252-5p	PAR-CLIP	22100165
MIRT445967	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT445966	hsa-miR-6124	PAR-CLIP	22100165
MIRT445965	hsa-miR-4533	PAR-CLIP	22100165
MIRT445964	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445963	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT445971	hsa-miR-651-3p	PAR-CLIP	22100165
MIRT445970	hsa-miR-4476	PAR-CLIP	22100165
MIRT445968	hsa-miR-6876-5p	PAR-CLIP	22100165
MIRT445969	hsa-miR-1252-5p	PAR-CLIP	22100165
MIRT445967	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT445966	hsa-miR-6124	PAR-CLIP	22100165
MIRT445965	hsa-miR-4533	PAR-CLIP	22100165
MIRT445964	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445963	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT657189	hsa-miR-6074	HITS-CLIP	23824327
MIRT657188	hsa-miR-362-5p	HITS-CLIP	23824327
MIRT657187	hsa-miR-500b-5p	HITS-CLIP	23824327
MIRT657186	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT657185	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT657184	hsa-miR-550b-3p	HITS-CLIP	23824327
MIRT657183	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT536702	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT536701	hsa-miR-548ab	PAR-CLIP	22012620
MIRT536700	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT536699	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT536698	hsa-miR-548ak	PAR-CLIP	22012620
MIRT536697	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT536696	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT536695	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT536694	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT536693	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT536692	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT536691	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT536690	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT536689	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT536688	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT536687	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT536686	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT536685	hsa-miR-548i	PAR-CLIP	22012620
MIRT536684	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT536683	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT536682	hsa-miR-548w	PAR-CLIP	22012620
MIRT536681	hsa-miR-548y	PAR-CLIP	22012620
MIRT536680	hsa-miR-559	PAR-CLIP	22012620
MIRT536678	hsa-miR-3973	PAR-CLIP	22012620
MIRT536679	hsa-miR-520g-3p	PAR-CLIP	22012620
MIRT536677	hsa-miR-520h	PAR-CLIP	22012620
MIRT536675	hsa-miR-8078	PAR-CLIP	22012620
MIRT536676	hsa-miR-1287-3p	PAR-CLIP	22012620
MIRT536674	hsa-miR-607	PAR-CLIP	22012620
MIRT536673	hsa-miR-1305	PAR-CLIP	22012620
MIRT536672	hsa-miR-335-3p	PAR-CLIP	22012620
MIRT445971	hsa-miR-651-3p	PAR-CLIP	22100165
MIRT445970	hsa-miR-4476	PAR-CLIP	22100165
MIRT445968	hsa-miR-6876-5p	PAR-CLIP	22100165
MIRT445969	hsa-miR-1252-5p	PAR-CLIP	22100165
MIRT445967	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT445966	hsa-miR-6124	PAR-CLIP	22100165
MIRT445965	hsa-miR-4533	PAR-CLIP	22100165
MIRT445964	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445963	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT445971	hsa-miR-651-3p	PAR-CLIP	22100165
MIRT445970	hsa-miR-4476	PAR-CLIP	22100165
MIRT445968	hsa-miR-6876-5p	PAR-CLIP	22100165
MIRT445969	hsa-miR-1252-5p	PAR-CLIP	22100165
MIRT445967	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT445966	hsa-miR-6124	PAR-CLIP	22100165
MIRT445965	hsa-miR-4533	PAR-CLIP	22100165
MIRT445964	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445963	hsa-miR-580-3p	PAR-CLIP	22100165

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10978333
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	10978333
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	10978333
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IMP	31217188
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0005515	Function	Protein binding	IPI	15491138, 25416956, 28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	31217188
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	IMP	15491138
GO:0019904	Function	Protein domain specific binding	IPI	15491138
GO:0032991	Component	Protein-containing complex	IMP	15491138
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 606238
• HGNC: 14283
• e!Ensembl: ENSG00000095574

Protein

• UniProt ID: Q9H5V7
• Protein name: Zinc finger protein Pegasus (Ikaros family zinc finger protein 5)
• Protein function: Transcriptional repressor that binds the core 5'GNNTGTNG-3' DNA consensus sequence (PubMed:10978333, PubMed:31217188). Involved in megakaryocyte differentiation.
• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, heart, skeletal muscle, kidney, and liver. Expressed in the hematopoietic cell lines MOLT-4, NALM-6 and K-562. Highly expressed in THP-1 and M-07e cell lines, which have characteristics of myeloid and early megakary
• Sequence:

  MGEKKPEPLDFVKDFQEYLTQQTHHVNMISGSVSGDKEAEALQGAGTDGDQNGLDHPSVE
  VSLDENSGMLVDGFERTFDGKLKCRYCNYASKGTARLIEHIRIHTGEKPHRCHLCPFASA
  YERHLEAHMRSHTGEKPYKCELCSFRCSDRSNLSHHRRRKHKMVPIKGTRSSLSSKKMWG
  VLQKKTSNLGYSRRALINLSPPSMVVQKPDYLNDFTHEIPNIQTDSYESMAKTTPTGGLP
  RDPQELMVDNPLNQLSTLAGQLSSLPPENQNPASPDVVPCPDEKPFMIQQPSTQAVVSAV
  SASIPQSSSPTSPEPRPSHSQRNYSPVAGPSSEPSAHTSTPSIGNSQPSTPAPALPVQDP
  QLLHHCQHCDMYFADNILYTIHMGCHGYENPFQCNICGCKCKNKYDFACHFARGQHNQH

• Sequence length: 419

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Thrombocytopenia 7	Pathogenic; Likely pathogenic	rs2133379669, rs2133379859, rs2133379889, rs2133384781, rs2493512800, rs2493522763, rs1849295075	RCV002245461 RCV002245462 RCV002245463 RCV002245464 RCV002281022 RCV003458947 RCV001271094	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTOSOMAL THROMBOCYTOPENIA WITH NORMAL PLATELETS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	31217188, 31217188	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IKZF5-related disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28751478		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28751478		★☆☆☆☆ Found in Text Mining only
Autosomal thrombocytopenia with normal platelets	Thrombocytopenia With Normal Platelets	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	28750695, 29406853, 30571502		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28751478		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32419556	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28300867		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28300867		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASDB_DG	21082022		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26034056, 27819678		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28097533, 28750695, 28882235, 29150806, 29406853, 30571502, 31218354		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26034056, 27819678		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	32419556	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	32419556	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MASTL 2 shared diseasesThrombocytopenia, Thrombocytopenia with normal platelets 6 shared evidence sourcesDisgenet (Thrombocytopenia with normal platelets), Orphanet (Thrombocytopenia with normal platelets), GWAS catalog (Thrombocytopenia with normal platelets), Disgenet (Thrombocytopenia), ClinGen (Thrombocytopenia), GWAS catalog (Thrombocytopenia) Related via 2 shared diseases including Thrombocytopenia, Thrombocytopenia with normal platelets — evidence mostly Disgenet. ANKRD26 2 shared diseasesThrombocytopenia, Thrombocytopenia with normal platelets 6 shared evidence sourcesDisgenet (Thrombocytopenia with normal platelets), Orphanet (Thrombocytopenia with normal platelets), Disgenet (Thrombocytopenia), ClinGen (Thrombocytopenia), ClinVar (Thrombocytopenia), HPO (Thrombocytopenia) Related via 2 shared diseases including Thrombocytopenia, Thrombocytopenia with normal platelets — evidence mostly Disgenet. CYCS 2 shared diseasesThrombocytopenia, Thrombocytopenia with normal platelets 8 shared evidence sourcesDisgenet (Thrombocytopenia with normal platelets), Orphanet (Thrombocytopenia with normal platelets), GWAS catalog (Thrombocytopenia with normal platelets), Disgenet (Thrombocytopenia), ClinGen (Thrombocytopenia), GWAS catalog (Thrombocytopenia), ClinVar (Thrombocytopenia), HPO (Thrombocytopenia) Related via 2 shared diseases including Thrombocytopenia, Thrombocytopenia with normal platelets — evidence mostly Disgenet. ETV6 2 shared diseasesThrombocytopenia, Thrombocytopenia with normal platelets 6 shared evidence sourcesDisgenet (Thrombocytopenia with normal platelets), Orphanet (Thrombocytopenia with normal platelets), Disgenet (Thrombocytopenia), ClinGen (Thrombocytopenia), ClinVar (Thrombocytopenia), HPO (Thrombocytopenia) Related via 2 shared diseases including Thrombocytopenia, Thrombocytopenia with normal platelets — evidence mostly Disgenet. NFE2 1 shared diseaseThrombocytopenia 3 shared evidence sourcesDisgenet (Thrombocytopenia), ClinGen (Thrombocytopenia), GWAS catalog (Thrombocytopenia) Related via 1 shared disease including Thrombocytopenia — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MASTL	2	["Thrombocytopenia","Thrombocytopenia with normal platelets"]	0	[]	6	["Disgenet (Thrombocytopenia with normal platelets)","Orphanet (Thrombocytopenia with normal platelets)","GWAS catalog (Thrombocytopenia with normal platelets)","Disgenet (Thrombocytopenia)","ClinGen (Thrombocytopenia)","GWAS catalog (Thrombocytopenia)"]
ANKRD26	2	["Thrombocytopenia","Thrombocytopenia with normal platelets"]	0	[]	6	["Disgenet (Thrombocytopenia with normal platelets)","Orphanet (Thrombocytopenia with normal platelets)","Disgenet (Thrombocytopenia)","ClinGen (Thrombocytopenia)","ClinVar (Thrombocytopenia)","HPO (Thrombocytopenia)"]
CYCS	2	["Thrombocytopenia","Thrombocytopenia with normal platelets"]	0	[]	8	["Disgenet (Thrombocytopenia with normal platelets)","Orphanet (Thrombocytopenia with normal platelets)","GWAS catalog (Thrombocytopenia with normal platelets)","Disgenet (Thrombocytopenia)","ClinGen (Thrombocytopenia)","GWAS catalog (Thrombocytopenia)","ClinVar (Thrombocytopenia)","HPO (Thrombocytopenia)"]
ETV6	2	["Thrombocytopenia","Thrombocytopenia with normal platelets"]	0	[]	6	["Disgenet (Thrombocytopenia with normal platelets)","Orphanet (Thrombocytopenia with normal platelets)","Disgenet (Thrombocytopenia)","ClinGen (Thrombocytopenia)","ClinVar (Thrombocytopenia)","HPO (Thrombocytopenia)"]
NFE2	1	["Thrombocytopenia"]	0	[]	3	["Disgenet (Thrombocytopenia)","ClinGen (Thrombocytopenia)","GWAS catalog (Thrombocytopenia)"]

Diseases Linked via Similar Genes

Myeloid leukemia Linked via 2 of 5 related genesANKRD26, ETV6 Squamous cell carcinoma Linked via 1 of 5 related genesMASTL Atrial fibrillation Linked via 1 of 5 related genesANKRD26 Platelet disorder Linked via 1 of 5 related genesANKRD26 Breast cancer Linked via 1 of 5 related genesANKRD26

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Myeloid leukemia	2	["ANKRD26","ETV6"]
Squamous cell carcinoma	1	["MASTL"]
Atrial fibrillation	1	["ANKRD26"]
Platelet disorder	1	["ANKRD26"]
Breast cancer	1	["ANKRD26"]