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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

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