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    ZFP69 ZFP69 zinc finger protein [ Homo sapiens (human) ]

    Gene ID: 339559, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZFP69provided by HGNC
    Official Full Name
    ZFP69 zinc finger proteinprovided by HGNC
    Primary source
    HGNC:HGNC:24708
    See related
    Ensembl:ENSG00000187815 MIM:617939; AllianceGenome:HGNC:24708
    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
    ZFP69A; ZNF642; ZSCAN54A; ZKSCAN23A
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of lipid metabolic process and regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.2), spleen (RPKM 1.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZFP69 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40477290..40496343)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40346903..40365936)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40942962..40962015)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 844 Neighboring gene small ArfGAP2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 727 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:40839657-40840156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 845 Neighboring gene Sharpr-MPRA regulatory region 11139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 728 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:40916242-40917441 Neighboring gene ZFP69 zinc finger protein B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 729 Neighboring gene EXO5 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 847 Neighboring gene uncharacterized LOC124904149 Neighboring gene Sharpr-MPRA regulatory region 98 Neighboring gene exonuclease 5

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Zfp69 is the most likely candidate for the diabetogenic effect of Nidd/SJL locus.
      Title: Positional cloning of zinc finger domain transcription factor Zfp69, a candidate gene for obesity-associated diabetes contributed by mouse locus Nidd/SJL.
    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

    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

    • FLJ16030

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of lipid metabolic process 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
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 69 homolog
    Names
    ZFP69 zinc finger protein A
    zinc finger protein 642
    zinc finger protein ZFP69

    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.

    mRNA and Protein(s)

    1. NM_001320178.2 → NP_001307107.1  zinc finger protein 69 homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK122618, AL603839, BC041873, BC144174, BM677727
      UniProtKB/Swiss-Prot
      Q49AA0
      Conserved Domains (4) summary
      smart00349
      Location:76 → 137
      KRAB; krueppel associated box
      COG5048
      Location:233 → 516
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:274 → 294
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02605
      Location:3 → 66
      SCAN; SCAN oligomerization domain

    2. NM_001320179.2 → NP_001307108.1  zinc finger protein 69 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1 by a single amino acid. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AK122618, AL603839, BC041873, BM677727
      Consensus CDS
      CCDS30686.1
      UniProtKB/Swiss-Prot
      Q49AA0, Q5SWM5, Q6ZWK8
      Related
      ENSP00000361791.1, ENST00000372706.6
      Conserved Domains (4) summary
      smart00349
      Location:76 → 136
      KRAB; krueppel associated box
      COG5048
      Location:232 → 515
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:273 → 293
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02605
      Location:3 → 66
      SCAN; SCAN oligomerization domain

    3. NM_198494.3 → NP_940896.2  zinc finger protein 69 homolog isoform 2

      See identical proteins and their annotated locations for NP_940896.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1 by a single amino acid. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL603839, BM677727, CV374692, CX871163, DA687888
      Consensus CDS
      CCDS30686.1
      UniProtKB/Swiss-Prot
      Q49AA0, Q5SWM5, Q6ZWK8
      Related
      ENSP00000361790.3, ENST00000372705.3
      Conserved Domains (4) summary
      smart00349
      Location:76 → 136
      KRAB; krueppel associated box
      COG5048
      Location:232 → 515
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:273 → 293
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02605
      Location:3 → 66
      SCAN; SCAN oligomerization 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      40477290..40496343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270809.5 → XP_005270866.1  zinc finger protein 69 homolog isoform X1

      See identical proteins and their annotated locations for XP_005270866.1

      Conserved Domains (4) summary
      smart00349
      Location:76 → 137
      KRAB; krueppel associated box
      COG5048
      Location:233 → 516
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:274 → 294
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02605
      Location:3 → 66
      SCAN; SCAN oligomerization domain

    2. XM_006710606.4 → XP_006710669.1  zinc finger protein 69 homolog isoform X2

      See identical proteins and their annotated locations for XP_006710669.1

      UniProtKB/Swiss-Prot
      Q49AA0, Q5SWM5, Q6ZWK8
      Conserved Domains (4) summary
      smart00349
      Location:76 → 136
      KRAB; krueppel associated box
      COG5048
      Location:232 → 515
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:273 → 293
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02605
      Location:3 → 66
      SCAN; SCAN oligomerization domain

    3. XM_006710605.4 → XP_006710668.1  zinc finger protein 69 homolog isoform X1

      See identical proteins and their annotated locations for XP_006710668.1

      Conserved Domains (4) summary
      smart00349
      Location:76 → 137
      KRAB; krueppel associated box
      COG5048
      Location:233 → 516
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:274 → 294
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02605
      Location:3 → 66
      SCAN; SCAN oligomerization domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      40346903..40365936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336303.1 → XP_054192278.1  zinc finger protein 69 homolog isoform X1

    2. XM_054336305.1 → XP_054192280.1  zinc finger protein 69 homolog isoform X2

      UniProtKB/Swiss-Prot
      Q49AA0, Q5SWM5, Q6ZWK8

    3. XM_054336304.1 → XP_054192279.1  zinc finger protein 69 homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q49AA0.2 GenPept UniProtKB/Swiss-Prot:Q49AA0

    Gene LinkOut

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