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IKZF4 IKAROS family zinc finger 4 [ Homo sapiens (human) ]

Gene ID: 64375, updated on 7-Jun-2020

Summary

Official Symbol
IKZF4provided by HGNC
Official Full Name
IKAROS family zinc finger 4provided by HGNC
Primary source
HGNC:HGNC:13179
See related
Ensembl:ENSG00000123411 MIM:606239
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EOS; ZNFN1A4
Summary
Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]
Expression
Ubiquitous expression in adrenal (RPKM 4.5), testis (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See IKZF4 in Genome Data Viewer
Location:
12q13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (56007504..56038435)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56401268..56432219)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RAB13, member RAS oncogene family pseudogene Neighboring gene RAB5B, member RAS oncogene family Neighboring gene sulfite oxidase Neighboring gene uncharacterized LOC105369781 Neighboring gene uncharacterized LOC105369780 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2135 Neighboring gene ribosomal protein S26

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
NHGRI GWA Catalog
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
NHGRI GWA Catalog
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
NHGRI GWA Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
NHGRI GWA Catalog
Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
NHGRI GWA Catalog
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1782

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
bHLH transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
negative regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homooligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
zinc finger protein Eos
Names
ikaros family zinc finger protein 4
zinc finger protein, subfamily 1A, 4 (Eos)
zinc finger transcription factor Eos

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001351089.2NP_001338018.1  zinc finger protein Eos isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2), as well as variant 1, encodes isoform a.
    Source sequence(s)
    AC034102
    Consensus CDS
    CCDS44917.1
    Related
    ENSP00000262032.5, ENST00000262032.9
    Conserved Domains (3) summary
    COG5189
    Location:211271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201226
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001351090.1NP_001338019.1  zinc finger protein Eos isoform b

    Status: VALIDATED

    Source sequence(s)
    AC034102, AK314543
    Consensus CDS
    CCDS86309.1
    Related
    ENSP00000450020.1, ENST00000547791.2
    Conserved Domains (3) summary
    COG5189
    Location:166226
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:116136
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:156181
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001351091.2NP_001338020.1  zinc finger protein Eos isoform c

    Status: VALIDATED

    Source sequence(s)
    AC034102
    Conserved Domains (3) summary
    COG5189
    Location:164224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001351092.2NP_001338021.1  zinc finger protein Eos isoform d

    Status: VALIDATED

    Source sequence(s)
    AC034102
    Conserved Domains (3) summary
    COG5189
    Location:109169
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:5979
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99124
    zf-H2C2_2; Zinc-finger double domain
  5. NM_022465.4NP_071910.3  zinc finger protein Eos isoform a

    See identical proteins and their annotated locations for NP_071910.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC034102, BX647761, DA797441
    Consensus CDS
    CCDS44917.1
    UniProtKB/Swiss-Prot
    Q9H2S9
    Related
    ENSP00000448419.1, ENST00000547167.6
    Conserved Domains (3) summary
    COG5189
    Location:211271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201226
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    56007504..56038435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019812.1XP_016875301.1  zinc finger protein Eos isoform X2

    Conserved Domains (2) summary
    sd00017
    Location:139159
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:179204
    zf-H2C2_2; Zinc-finger double domain
  2. XM_017019814.1XP_016875303.1  zinc finger protein Eos isoform X3

    Conserved Domains (3) summary
    COG5189
    Location:164224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  3. XM_017019806.1XP_016875295.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q9H2S9
    Conserved Domains (3) summary
    COG5189
    Location:211271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201226
    zf-H2C2_2; Zinc-finger double domain
  4. XM_024449128.1XP_024304896.1  zinc finger protein Eos isoform X4

  5. XM_024449129.1XP_024304897.1  zinc finger protein Eos isoform X5

    Conserved Domains (3) summary
    COG5189
    Location:109169
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:5979
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99124
    zf-H2C2_2; Zinc-finger double domain
  6. XM_017019807.1XP_016875296.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q9H2S9
    Conserved Domains (3) summary
    COG5189
    Location:211271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201226
    zf-H2C2_2; Zinc-finger double domain
  7. XM_017019813.1XP_016875302.1  zinc finger protein Eos isoform X2

    Conserved Domains (2) summary
    sd00017
    Location:139159
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:179204
    zf-H2C2_2; Zinc-finger double domain
  8. XM_017019815.1XP_016875304.1  zinc finger protein Eos isoform X3

    Conserved Domains (3) summary
    COG5189
    Location:164224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  9. XM_011538664.1XP_011536966.1  zinc finger protein Eos isoform X2

    See identical proteins and their annotated locations for XP_011536966.1

    Conserved Domains (2) summary
    sd00017
    Location:139159
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:179204
    zf-H2C2_2; Zinc-finger double domain
  10. XM_017019816.1XP_016875305.1  zinc finger protein Eos isoform X3

    Conserved Domains (3) summary
    COG5189
    Location:164224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  11. XM_017019809.1XP_016875298.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q9H2S9
    Conserved Domains (3) summary
    COG5189
    Location:211271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201226
    zf-H2C2_2; Zinc-finger double domain
  12. XM_005269086.3XP_005269143.1  zinc finger protein Eos isoform X2

    See identical proteins and their annotated locations for XP_005269143.1

    Conserved Domains (2) summary
    sd00017
    Location:139159
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:179204
    zf-H2C2_2; Zinc-finger double domain
  13. XM_017019810.1XP_016875299.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q9H2S9
    Conserved Domains (3) summary
    COG5189
    Location:211271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201226
    zf-H2C2_2; Zinc-finger double domain
  14. XM_011538669.2XP_011536971.1  zinc finger protein Eos isoform X3

    See identical proteins and their annotated locations for XP_011536971.1

    Conserved Domains (3) summary
    COG5189
    Location:164224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  15. XM_005269089.2XP_005269146.1  zinc finger protein Eos isoform X3

    See identical proteins and their annotated locations for XP_005269146.1

    Conserved Domains (3) summary
    COG5189
    Location:164224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  16. XM_017019808.1XP_016875297.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q9H2S9
    Conserved Domains (3) summary
    COG5189
    Location:211271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201226
    zf-H2C2_2; Zinc-finger double domain
  17. XM_017019811.1XP_016875300.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q9H2S9
    Conserved Domains (3) summary
    COG5189
    Location:211271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201226
    zf-H2C2_2; Zinc-finger double domain
  18. XM_024449130.1XP_024304898.1  zinc finger protein Eos isoform X5

    Conserved Domains (3) summary
    COG5189
    Location:109169
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:5979
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99124
    zf-H2C2_2; Zinc-finger double domain
  19. XM_024449131.1XP_024304899.1  zinc finger protein Eos isoform X5

    Conserved Domains (3) summary
    COG5189
    Location:109169
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:5979
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99124
    zf-H2C2_2; Zinc-finger double domain
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