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    IKZF5 IKAROS family zinc finger 5 [ Homo sapiens (human) ]

    Gene ID: 64376, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IKZF5provided by HGNC
    Official Full Name
    IKAROS family zinc finger 5provided by HGNC
    Primary source
    HGNC:HGNC:14283
    See related
    Ensembl:ENSG00000095574 MIM:606238; AllianceGenome:HGNC:14283
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    THC7; PEGASUS; ZNFN1A5
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 13.4), testis (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IKZF5 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (122990806..123008795, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123865801..123883913, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124750322..124768311, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4143 Neighboring gene phosphoseryl-tRNA kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr10:124760713-124760899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4145 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:124776916-124777782 Neighboring gene Sharpr-MPRA regulatory region 2783 Neighboring gene acyl-CoA dehydrogenase short/branched chain Neighboring gene Sharpr-MPRA regulatory region 13327 Neighboring gene VISTA enhancer hs1319 Neighboring gene VISTA enhancer hs329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124878267-124878768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124878769-124879268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4146 Neighboring gene Sharpr-MPRA regulatory region 13916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:124894701-124895651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124896834-124897798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124898839-124899608 Neighboring gene H6 family homeobox 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Highly impaired platelet ultrastructure in two families with novel IKZF5 variants. Leinoe E, et al. Platelets, 2021 May 19. PMID 32419556
    2. Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. Lentaigne C, et al. Blood, 2019 Dec 5. PMID 31217188
    3. Eos and pegasus, two members of the Ikaros family of proteins with distinct DNA binding activities. Perdomo J, et al. J Biol Chem, 2000 Dec 8. PMID 10978333
    4. Structural studies on a protein-binding zinc-finger domain of Eos reveal both similarities and differences to classical zinc fingers. Westman BJ, et al. Biochemistry, 2004 Oct 26. PMID 15491138
    5. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. Moore FL, et al. Proc Natl Acad Sci U S A, 2003 Jan 21. PMID 12511597, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Highly impaired platelet ultrastructure in two families with novel IKZF5 variants.
      Title: Highly impaired platelet ultrastructure in two families with novel IKZF5 variants.
    2. IKZF5 is a novel transcriptional regulator of megakaryopoiesis and the eighth transcription factor associated with dominant thrombocytopenia in humans.
      Title: Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Thrombocytopenia 7
    MedGen: C5436874 OMIM: 619130 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13226, FLJ22973, FLJ30945, DKFZp781B0249

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein Pegasus
    Names
    zinc finger protein, subfamily 1A, 5 (Pegasus)
    zinc finger transcription factor Pegasus

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_067239.1 RefSeqGene

      Range
      5001..22989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1429

    mRNA and Protein(s)

    1. NM_001271840.1 → NP_001258769.1  zinc finger protein Pegasus isoform 1

      See identical proteins and their annotated locations for NP_001258769.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC073585, AI560579, DA218215
      Consensus CDS
      CCDS41574.1
      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7
      Related
      ENSP00000478056.1, ENST00000617859.4
      Conserved Domains (3) summary
      PHA03269
      Location:251 → 361
      PHA03269; envelope glycoprotein C; Provisional
      sd00017
      Location:84 → 104
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:124 → 148
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001372123.1 → NP_001359052.1  zinc finger protein Pegasus isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Consensus CDS
      CCDS41574.1
      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7
      Related
      ENSP00000357881.5, ENST00000368886.10
      Conserved Domains (3) summary
      PHA03269
      Location:251 → 361
      PHA03269; envelope glycoprotein C; Provisional
      sd00017
      Location:84 → 104
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:124 → 148
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001372124.1 → NP_001359053.1  zinc finger protein Pegasus isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Conserved Domains (3) summary
      sd00017
      Location:16 → 36
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:56 → 80
      zf-H2C2_2; Zinc-finger double domain
      NF033913
      Location:148 → 284
      fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA

    4. NM_001372125.1 → NP_001359054.1  zinc finger protein Pegasus isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Consensus CDS
      CCDS41574.1
      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7
      Conserved Domains (3) summary
      PHA03269
      Location:251 → 361
      PHA03269; envelope glycoprotein C; Provisional
      sd00017
      Location:84 → 104
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:124 → 148
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001372126.1 → NP_001359055.1  zinc finger protein Pegasus isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Consensus CDS
      CCDS41574.1
      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7
      Conserved Domains (3) summary
      PHA03269
      Location:251 → 361
      PHA03269; envelope glycoprotein C; Provisional
      sd00017
      Location:84 → 104
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:124 → 148
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001372127.1 → NP_001359056.1  zinc finger protein Pegasus isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Consensus CDS
      CCDS41574.1
      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7
      Conserved Domains (3) summary
      PHA03269
      Location:251 → 361
      PHA03269; envelope glycoprotein C; Provisional
      sd00017
      Location:84 → 104
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:124 → 148
      zf-H2C2_2; Zinc-finger double domain

    7. NM_001372128.1 → NP_001359057.1  zinc finger protein Pegasus isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Consensus CDS
      CCDS41574.1
      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7
      Conserved Domains (3) summary
      PHA03269
      Location:251 → 361
      PHA03269; envelope glycoprotein C; Provisional
      sd00017
      Location:84 → 104
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:124 → 148
      zf-H2C2_2; Zinc-finger double domain

    8. NM_001372129.1 → NP_001359058.1  zinc finger protein Pegasus isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Conserved Domains (3) summary
      sd00017
      Location:16 → 36
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:56 → 80
      zf-H2C2_2; Zinc-finger double domain
      NF033913
      Location:148 → 284
      fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA

    9. NM_001372130.1 → NP_001359059.1  zinc finger protein Pegasus isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Conserved Domains (3) summary
      sd00017
      Location:16 → 36
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:56 → 80
      zf-H2C2_2; Zinc-finger double domain
      NF033913
      Location:148 → 284
      fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA

    10. NM_001372131.1 → NP_001359060.1  zinc finger protein Pegasus isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC073585
      Conserved Domains (3) summary
      sd00017
      Location:16 → 36
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:56 → 80
      zf-H2C2_2; Zinc-finger double domain
      NF033913
      Location:148 → 284
      fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      122990806..123008795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425646.1 → XP_047281602.1  zinc finger protein Pegasus isoform X1

      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7

    2. XM_047425647.1 → XP_047281603.1  zinc finger protein Pegasus isoform X1

      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7

    3. XM_006717947.5 → XP_006718010.1  zinc finger protein Pegasus isoform X1

      See identical proteins and their annotated locations for XP_006718010.1

      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7
      Conserved Domains (3) summary
      PHA03269
      Location:251 → 361
      PHA03269; envelope glycoprotein C; Provisional
      sd00017
      Location:84 → 104
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:124 → 148
      zf-H2C2_2; Zinc-finger double domain

    4. XM_047425645.1 → XP_047281601.1  zinc finger protein Pegasus isoform X1

      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      123865801..123883913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366585.1 → XP_054222560.1  zinc finger protein Pegasus isoform X1

      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7

    2. XM_054366586.1 → XP_054222561.1  zinc finger protein Pegasus isoform X1

      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7

    3. XM_054366587.1 → XP_054222562.1  zinc finger protein Pegasus isoform X1

      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7

    4. XM_054366584.1 → XP_054222559.1  zinc finger protein Pegasus isoform X1

      UniProtKB/Swiss-Prot
      B3KVH7, D3DRE7, Q9H2T0, Q9H5V7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_073476.2: Suppressed sequence

      Description
      NR_073476.2: This RefSeq was removed because it is now thought that this transcript does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5V7.1 GenPept UniProtKB/Swiss-Prot:Q9H5V7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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