IKZF5 (IKAROS family zinc finger 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 64376
Gene name IKAROS family zinc finger 5
Gene symbol IKZF5
Synonyms (NCBI Gene)
PEGASUSTHC7ZNFN1A5
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 miRNA information provided by mirtarbase database.
114
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606238 14283 ENSG00000095574
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
Family and domains
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
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thrombocytopenia 7 Pathogenic; Likely pathogenic rs2133379669, rs2133379859, rs2133379889, rs2133384781, rs2493512800, rs2493522763, rs1849295075 RCV002245461
RCV002245462
RCV002245463
RCV002245464
RCV002281022
RCV003458947
RCV001271094
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
IKZF5-related disorder Uncertain significance rs375967070 RCV003392857
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 32419556
Immunologic Deficiency Syndromes Associate 32419556
Thrombasthenia Thrombocytopenia Hereditary Associate 32419556
Thrombocytopenia Associate 32419556
Tomaculous neuropathy Associate 32419556