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    IKZF3 IKAROS family zinc finger 3 [ Homo sapiens (human) ]

    Gene ID: 22806, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IKZF3provided by HGNC
    Official Full Name
    IKAROS family zinc finger 3provided by HGNC
    Primary source
    HGNC:HGNC:13178
    See related
    Ensembl:ENSG00000161405 MIM:606221; AllianceGenome:HGNC:13178
    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
    AIO; IMD84; AIOLOS; ZNFN1A3
    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 gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
    Expression
    Biased expression in lymph node (RPKM 17.4), spleen (RPKM 11.5) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IKZF3 in Genome Data Viewer
    Location:
    17q12-q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39757715..39864312, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40621278..40728035, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37913968..38020565, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene erb-b2 receptor tyrosine kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37896451-37897048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37897647-37898244 Neighboring gene migration and invasion enhancer 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12106 Neighboring gene growth factor receptor bound protein 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12108 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37934634-37934867 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37940879-37941109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12110 Neighboring gene MPRA-validated peak2840 silencer Neighboring gene MPRA-validated peak2841 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37991649-37992148 Neighboring gene keratin 8 pseudogene 34 Neighboring gene ribosomal protein L39 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12116 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38023509-38023724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12117 Neighboring gene zona pellucida binding protein 2 Neighboring gene GSDMB 5' regulatory region Neighboring gene gasdermin B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Differential aiolos expression in human hematopoietic subpopulations. Billot K, et al. Leuk Res, 2010 Mar. PMID 19540588
    2. Overexpression of Aiolos promotes epithelial-mesenchymal transition and cancer stem cell-like properties in lung cancer cells. Hung JJ, et al. Sci Rep, 2019 Feb 28. PMID 30816208, Free PMC Article
    3. Both normal and leukemic B lymphocytes express multiple isoforms of the human Aiolos gene. Liippo J, et al. Eur J Immunol, 2001 Dec. PMID 11745366
    4. Aiolos and Ikaros: regulators of lymphocyte development, homeostasis and lymphoproliferation. Schmitt C, et al. Apoptosis, 2002 Jun. PMID 11997672
    5. Overexpression of Aiolos in Peripheral Blood Mononuclear Cell Subsets from Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis. Cai X, et al. Biochem Genet, 2016 Feb. PMID 26546109

    See all (114) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IKZF3 polymorphisms contribute to the increased risk of acute lymphoblastic leukemia in children.
      Title: IKZF3 polymorphisms contribute to the increased risk of acute lymphoblastic leukemia in children.
    2. Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
      Title: Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
    3. Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations.
      Title: Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations.
    4. IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis.
      Title: IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis.
    5. IKZF3 amplification frequently occurs in HER2-positive breast cancer and is a potential therapeutic target.
      Title: IKZF3 amplification frequently occurs in HER2-positive breast cancer and is a potential therapeutic target.
    6. AIOLOS Variants Causing Immunodeficiency in Human and Mice.
      Title: AIOLOS Variants Causing Immunodeficiency in Human and Mice.
    7. Tissue signals imprint Aiolos expression in ILC2s to modulate type 2 immunity.
      Title: Tissue signals imprint Aiolos expression in ILC2s to modulate type 2 immunity.
    8. Aiolos regulates eosinophil migration into tissues.
      Title: Aiolos regulates eosinophil migration into tissues.
    9. IKZF3 deficiency potentiates chimeric antigen receptor T cells targeting solid tumors.
      Title: IKZF3 deficiency potentiates chimeric antigen receptor T cells targeting solid tumors.
    10. T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
      Title: T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    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
    Immunodeficiency 84
    MedGen: C5561940 OMIM: 619437 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
    EBI GWAS Catalog
    Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
    EBI GWAS Catalog
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    EBI GWAS Catalog
    Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog
    Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif interacts with IKZF3; predicted interaction to be relevant to gene regulation PubMed
    vif HIV-1 Vif downregulates the expression of IKAROS family zinc finger 3 (IKZF3) in Vif-expression T cells PubMed
    integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that IKZF3 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with IKZF3 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables promoter-specific chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesoderm development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of B cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lymphocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein Aiolos
    Names
    zinc finger DNA binding protein Aiolos
    zinc finger protein, subfamily 1A, 3 (Aiolos)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_029104.2 RefSeqGene

      Range
      4877..111471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001257408.2 → NP_001244337.1  zinc finger protein Aiolos isoform 7

      See identical proteins and their annotated locations for NP_001244337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (7, also known as Aio-del2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377973
      Consensus CDS
      CCDS58540.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000438972.1, ENST00000535189.5
      Conserved Domains (3) summary
      COG5048
      Location:45 → 185
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:86 → 106
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:99 → 123
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001257409.2 → NP_001244338.1  zinc finger protein Aiolos isoform 8

      See identical proteins and their annotated locations for NP_001244338.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (8, also known as Aio-del2,5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377975
      Consensus CDS
      CCDS58539.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000403776.2, ENST00000439167.6
      Conserved Domains (2) summary
      sd00017
      Location:86 → 106
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:99 → 123
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001257410.2 → NP_001244339.1  zinc finger protein Aiolos isoform 9

      See identical proteins and their annotated locations for NP_001244339.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (9, also known as Aio-del3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377976
      Consensus CDS
      CCDS58544.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000367194.2, ENST00000377958.7
      Conserved Domains (4) summary
      COG5048
      Location:58 → 132
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:61 → 81
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:59 → 81
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:73 → 96
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001257411.2 → NP_001244340.1  zinc finger protein Aiolos isoform 10

      See identical proteins and their annotated locations for NP_001244340.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (10, also known as Aio-del3,4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377977
      Consensus CDS
      CCDS58543.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000367179.3, ENST00000377944.7
      Conserved Domains (2) summary
      COG5189
      Location:33 → 78
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:61 → 78
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_001257412.2 → NP_001244341.1  zinc finger protein Aiolos isoform 11

      See identical proteins and their annotated locations for NP_001244341.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (11, also known as Aio-del3,4,5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377978
      Consensus CDS
      CCDS58542.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000377741.2, ENST00000394189.6

    6. NM_001257413.2 → NP_001244342.1  zinc finger protein Aiolos isoform 12

      See identical proteins and their annotated locations for NP_001244342.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks four alternate in-frame exons compared to variant 1. The resulting isoform (12, also known as Aio-del3,4,5,6) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377979
      Consensus CDS
      CCDS58541.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000367188.2, ENST00000377952.6

    7. NM_001257414.2 → NP_001244343.1  zinc finger protein Aiolos isoform 13

      See identical proteins and their annotated locations for NP_001244343.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (13, also known as Aio-del4,5,6) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377980
      Consensus CDS
      CCDS58545.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000367180.3, ENST00000377945.7

    8. NM_001284514.2 → NP_001271443.1  zinc finger protein Aiolos isoform 14

      See identical proteins and their annotated locations for NP_001271443.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377981
      Consensus CDS
      CCDS74055.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000485515.1, ENST00000623724.3

    9. NM_001284515.2 → NP_001271444.1  zinc finger protein Aiolos isoform 14

      See identical proteins and their annotated locations for NP_001271444.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
      Source sequence(s)
      AC079199, AC090844, AI866838, AY377982
      Consensus CDS
      CCDS74055.1
      UniProtKB/Swiss-Prot
      Q9UKT9

    10. NM_001284516.1 → NP_001271445.1  zinc finger protein Aiolos isoform 14

      See identical proteins and their annotated locations for NP_001271445.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
      Source sequence(s)
      AC079199, AI866838, AK301250
      Consensus CDS
      CCDS74055.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000462452.1, ENST00000583368.1

    11. NM_012481.5 → NP_036613.2  zinc finger protein Aiolos isoform 1

      See identical proteins and their annotated locations for NP_036613.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Aio-1).
      Source sequence(s)
      AC079199, AC090844, AF129512, AI866838
      Consensus CDS
      CCDS11346.1
      UniProtKB/Swiss-Prot
      B4DVV5, Q69BL6, Q69BL7, Q69BL8, Q69BL9, Q69BM0, Q69BM1, Q69BM2, Q69BM3, Q69BM5, Q8N574, Q8WWQ9, Q8WWR0, Q8WWR1, Q8WWR2, Q8WWR3, Q9UKT9
      Related
      ENSP00000344544.3, ENST00000346872.8
      Conserved Domains (3) summary
      COG5048
      Location:79 → 219
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:120 → 140
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:133 → 157
      zf-H2C2_2; Zinc-finger double domain

    12. NM_183228.3 → NP_899051.1  zinc finger protein Aiolos isoform 2

      See identical proteins and their annotated locations for NP_899051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2, also known as Aio-del4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AF129512, AI866838, AJ292565
      Consensus CDS
      CCDS11347.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000420463.1, ENST00000467757.5
      Conserved Domains (2) summary
      sd00017
      Location:120 → 140
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:133 → 157
      zf-H2C2_2; Zinc-finger double domain

    13. NM_183229.3 → NP_899052.1  zinc finger protein Aiolos isoform 3

      See identical proteins and their annotated locations for NP_899052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3, also known as Aio-del5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AF129512, AI866838, AJ292566
      Consensus CDS
      CCDS11348.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000345622.3, ENST00000351680.7
      Conserved Domains (2) summary
      sd00017
      Location:120 → 140
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:133 → 157
      zf-H2C2_2; Zinc-finger double domain

    14. NM_183230.3 → NP_899053.1  zinc finger protein Aiolos isoform 4

      See identical proteins and their annotated locations for NP_899053.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4, also known as Aio-del6) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AF129512, AI866838, AJ292567
      Consensus CDS
      CCDS11349.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000344471.3, ENST00000350532.7
      Conserved Domains (3) summary
      COG5048
      Location:79 → 219
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:120 → 140
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:133 → 157
      zf-H2C2_2; Zinc-finger double domain

    15. NM_183231.3 → NP_899054.1  zinc finger protein Aiolos isoform 5

      See identical proteins and their annotated locations for NP_899054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (5, also known as Aio-del4,5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AF129512, AI866838, AJ292568
      Consensus CDS
      CCDS11350.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000403027.2, ENST00000439016.2

    16. NM_183232.3 → NP_899055.1  zinc finger protein Aiolos isoform 6

      See identical proteins and their annotated locations for NP_899055.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (6, also known as Aio-del5,6) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC079199, AC090844, AF129512, AI866838, AJ292569
      Consensus CDS
      CCDS11351.1
      UniProtKB/Swiss-Prot
      Q9UKT9
      Related
      ENSP00000341977.3, ENST00000346243.7
      Conserved Domains (3) summary
      COG5048
      Location:79 → 241
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:120 → 140
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:133 → 157
      zf-H2C2_2; Zinc-finger double domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39757715..39864312 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435625.1 → XP_047291581.1  zinc finger protein Aiolos isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40621278..40728035 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315483.1 → XP_054171458.1  zinc finger protein Aiolos isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKT9.2 GenPept UniProtKB/Swiss-Prot:Q9UKT9

    Gene LinkOut

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