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IKZF2 IKAROS family zinc finger 2 [ Homo sapiens (human) ]

Gene ID: 22807, updated on 17-Jun-2019

Summary

Official Symbol
IKZF2provided by HGNC
Official Full Name
IKAROS family zinc finger 2provided by HGNC
Primary source
HGNC:HGNC:13177
See related
Ensembl:ENSG00000030419 MIM:606234
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
ANF1A2; HELIOS; ZNF1A2; ZNFN1A2
Summary
This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in esophagus (RPKM 4.7), urinary bladder (RPKM 3.1) and 21 other tissues See more
Orthologs

Genomic context

See IKZF2 in Genome Data Viewer
Location:
2q34
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (212999692..213155297, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (213864408..214016379, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102725082 Neighboring gene uncharacterized LOC107985980 Neighboring gene microRNA 4776-1 Neighboring gene microRNA 4776-2 Neighboring gene long intergenic non-protein coding RNA 1953 Neighboring gene uncharacterized LOC105373864

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34330

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, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
zinc finger protein Helios
Names
ikaros family zinc finger protein 2
zinc finger DNA binding protein Helios
zinc finger protein, subfamily 1A, 2 (Helios)

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_001079526.2NP_001072994.1  zinc finger protein Helios isoform 2

    See identical proteins and their annotated locations for NP_001072994.1

    Status: REVIEWED

    Description
    Transcript Variant: This Variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
    Source sequence(s)
    AC079610, AC108066, AI458439, BC028936
    Consensus CDS
    CCDS46507.1
    UniProtKB/Swiss-Prot
    Q9UKS7
    Related
    ENSP00000363439.4, ENST00000374319.8
    Conserved Domains (3) summary
    COG5048
    Location:107181
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:116136
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:128153
    zf-H2C2_2; Zinc-finger double domain
  2. NM_016260.3NP_057344.2  zinc finger protein Helios isoform 1

    See identical proteins and their annotated locations for NP_057344.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AC013736, AC079610, AC108066, AF130863, AI458439
    Consensus CDS
    CCDS2395.1
    UniProtKB/Swiss-Prot
    Q9UKS7
    Related
    ENSP00000342876.2, ENST00000342002.6
    Conserved Domains (3) summary
    COG5048
    Location:138207
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens 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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    212999692..213155297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510814.3XP_011509116.1  zinc finger protein Helios isoform X3

    See identical proteins and their annotated locations for XP_011509116.1

    UniProtKB/Swiss-Prot
    Q9UKS7
    Conserved Domains (3) summary
    COG5048
    Location:138207
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  2. XM_011510812.3XP_011509114.1  zinc finger protein Helios isoform X2

    See identical proteins and their annotated locations for XP_011509114.1

    Conserved Domains (3) summary
    COG5048
    Location:139208
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:115135
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:155180
    zf-H2C2_2; Zinc-finger double domain
  3. XM_011510805.3XP_011509107.1  zinc finger protein Helios isoform X1

    See identical proteins and their annotated locations for XP_011509107.1

    Conserved Domains (3) summary
    COG5048
    Location:145214
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:121141
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:161186
    zf-H2C2_2; Zinc-finger double domain
  4. XM_011510809.3XP_011509111.1  zinc finger protein Helios isoform X2

    See identical proteins and their annotated locations for XP_011509111.1

    Conserved Domains (3) summary
    COG5048
    Location:139208
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:115135
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:155180
    zf-H2C2_2; Zinc-finger double domain
  5. XM_011510802.3XP_011509104.1  zinc finger protein Helios isoform X1

    See identical proteins and their annotated locations for XP_011509104.1

    Conserved Domains (3) summary
    COG5048
    Location:145214
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:121141
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:161186
    zf-H2C2_2; Zinc-finger double domain
  6. XM_011510811.3XP_011509113.1  zinc finger protein Helios isoform X2

    See identical proteins and their annotated locations for XP_011509113.1

    Conserved Domains (3) summary
    COG5048
    Location:139208
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:115135
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:155180
    zf-H2C2_2; Zinc-finger double domain
  7. XM_011510807.3XP_011509109.1  zinc finger protein Helios isoform X2

    See identical proteins and their annotated locations for XP_011509109.1

    Conserved Domains (3) summary
    COG5048
    Location:139208
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:115135
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:155180
    zf-H2C2_2; Zinc-finger double domain
  8. XM_017003590.2XP_016859079.1  zinc finger protein Helios isoform X7

    UniProtKB/Swiss-Prot
    Q9UKS7
    Conserved Domains (3) summary
    COG5048
    Location:107181
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:116136
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:128153
    zf-H2C2_2; Zinc-finger double domain
  9. XM_005246384.5XP_005246441.1  zinc finger protein Helios isoform X3

    See identical proteins and their annotated locations for XP_005246441.1

    UniProtKB/Swiss-Prot
    Q9UKS7
    Related
    ENSP00000412869.1, ENST00000434687.5
    Conserved Domains (3) summary
    COG5048
    Location:138207
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  10. XM_011510803.3XP_011509105.1  zinc finger protein Helios isoform X1

    See identical proteins and their annotated locations for XP_011509105.1

    Conserved Domains (3) summary
    COG5048
    Location:145214
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:121141
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:161186
    zf-H2C2_2; Zinc-finger double domain
  11. XM_011510808.3XP_011509110.1  zinc finger protein Helios isoform X2

    See identical proteins and their annotated locations for XP_011509110.1

    Conserved Domains (3) summary
    COG5048
    Location:139208
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:115135
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:155180
    zf-H2C2_2; Zinc-finger double domain
  12. XM_017003589.2XP_016859078.1  zinc finger protein Helios isoform X7

    UniProtKB/Swiss-Prot
    Q9UKS7
    Conserved Domains (3) summary
    COG5048
    Location:107181
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:116136
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:128153
    zf-H2C2_2; Zinc-finger double domain
  13. XM_005246385.4XP_005246442.1  zinc finger protein Helios isoform X3

    See identical proteins and their annotated locations for XP_005246442.1

    UniProtKB/Swiss-Prot
    Q9UKS7
    Conserved Domains (3) summary
    COG5048
    Location:138207
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154179
    zf-H2C2_2; Zinc-finger double domain
  14. XM_011510810.3XP_011509112.1  zinc finger protein Helios isoform X2

    See identical proteins and their annotated locations for XP_011509112.1

    Conserved Domains (3) summary
    COG5048
    Location:139208
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:115135
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:155180
    zf-H2C2_2; Zinc-finger double domain
  15. XM_011510804.3XP_011509106.1  zinc finger protein Helios isoform X1

    See identical proteins and their annotated locations for XP_011509106.1

    Conserved Domains (3) summary
    COG5048
    Location:145214
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:121141
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:161186
    zf-H2C2_2; Zinc-finger double domain
  16. XM_011510819.3XP_011509121.1  zinc finger protein Helios isoform X11

    Conserved Domains (3) summary
    COG5048
    Location:113430
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:122142
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:134159
    zf-H2C2_2; Zinc-finger double domain
  17. XM_005246386.5XP_005246443.1  zinc finger protein Helios isoform X5

    Conserved Domains (4) summary
    COG5048
    Location:113187
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:122142
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:120142
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:134159
    zf-H2C2_2; Zinc-finger double domain
  18. XM_011510817.3XP_011509119.1  zinc finger protein Helios isoform X8

    Conserved Domains (3) summary
    COG5048
    Location:145457
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:121141
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:161186
    zf-H2C2_2; Zinc-finger double domain
  19. XM_017003592.2XP_016859081.1  zinc finger protein Helios isoform X10

  20. XM_011510815.3XP_011509117.1  zinc finger protein Helios isoform X4

    Conserved Domains (4) summary
    COG5048
    Location:114188
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:123143
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:121143
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:135160
    zf-H2C2_2; Zinc-finger double domain
  21. XM_011510816.3XP_011509118.1  zinc finger protein Helios isoform X6

    Conserved Domains (3) summary
    COG5048
    Location:114183
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:90110
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:130155
    zf-H2C2_2; Zinc-finger double domain
  22. XM_017003591.2XP_016859080.1  zinc finger protein Helios isoform X9

    UniProtKB/TrEMBL
    A0A024R3Z4
    Conserved Domains (3) summary
    COG5048
    Location:85154
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:6181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:101126
    zf-H2C2_2; Zinc-finger double domain
  23. XM_011510818.3XP_011509120.1  zinc finger protein Helios isoform X9

    See identical proteins and their annotated locations for XP_011509120.1

    UniProtKB/TrEMBL
    A0A024R3Z4
    Conserved Domains (3) summary
    COG5048
    Location:85154
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:6181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:101126
    zf-H2C2_2; Zinc-finger double domain
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