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    ZNF668 zinc finger protein 668 [ Homo sapiens (human) ]

    Gene ID: 79759, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF668provided by HGNC
    Official Full Name
    zinc finger protein 668provided by HGNC
    Primary source
    HGNC:HGNC:25821
    See related
    Ensembl:ENSG00000167394 MIM:617103; AllianceGenome:HGNC:25821
    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
    NEDGEF
    Summary
    Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in DNA repair. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.2), bone marrow (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF668 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31060847..31074240, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31448267..31461668, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31072168..31085561, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31001361-31002004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31002005-31002648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7407 Neighboring gene syntaxin 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31011808-31012308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31012309-31012809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31021995-31022496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31044203-31044714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31045227-31045737 Neighboring gene syntaxin 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31074971-31075598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31075599-31076226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31084437-31085237 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085443-31085976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085977-31086509 Neighboring gene zinc finger protein 646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31099941-31100441 Neighboring gene serine protease 53 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31104343-31105051 Neighboring gene vitamin K epoxide reductase complex subunit 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. ZNF668 deficiency causes a recognizable disorder of DNA damage repair. Alsaif HS, et al. Hum Genet, 2021 Sep. PMID 34313816
    2. Zinc finger protein 668 interacts with Tip60 to promote H2AX acetylation after DNA damage. Hu R, et al. Cell Cycle, 2013 Jul 1. PMID 23777805, Free PMC Article
    3. ZNF668 functions as a tumor suppressor by regulating p53 stability and function in breast cancer. Hu R, et al. Cancer Res, 2011 Oct 15. PMID 21852383, Free PMC Article
    4. The HMGB1-2 Ovarian Cancer Interactome. The Role of HMGB Proteins and Their Interacting Partners MIEN1 and NOP53 in Ovary Cancer and Drug-Response. Cámara-Quílez M, et al. Cancers (Basel), 2020 Aug 27. PMID 32867128, Free PMC Article
    5. Characterization of the pVHL Interactome in Human Testis Using High-Throughput Library Screening. Falconieri A, et al. Cancers (Basel), 2022 Feb 17. PMID 35205757, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
      Title: ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
    2. ZNF668 is a key molecule that links chromatin relaxation with DNA damage response in DNA repair control.
      Title: Zinc finger protein 668 interacts with Tip60 to promote H2AX acetylation after DNA damage.
    3. ZNF668 was identified as a novel breast tumor suppressor protein that regeulates the stability p53 tumor suppression proteins.
      Title: ZNF668 functions as a tumor suppressor by regulating p53 stability and function in breast cancer.
    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
    Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
    MedGen: C5774288 OMIM: 620194 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

    • FLJ13479, FLJ14492

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    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
    		  

    General protein information

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    Preferred Names
    zinc finger protein 668

    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_001172668.2 → NP_001166139.1  zinc finger protein 668 isoform a

      See identical proteins and their annotated locations for NP_001166139.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2, and 4 all encode the same isoform (a).
      Source sequence(s)
      AB209710, AC135050, AK027398, AK289899, DC412389
      Consensus CDS
      CCDS10701.1
      UniProtKB/Swiss-Prot
      C9JHH8, F5H7E7, Q59EV1, Q8N669, Q96K58, Q9H8L4
      UniProtKB/TrEMBL
      A8K1I4
      Related
      ENSP00000440149.1, ENST00000538906.5
      Conserved Domains (3) summary
      COG5048
      Location:80 → 414
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:226 → 246
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:86 → 106
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001172669.2 → NP_001166140.1  zinc finger protein 668 isoform b

      See identical proteins and their annotated locations for NP_001166140.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, contains an alternate 5' coding exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AB209710, AK023541, DA450347
      Consensus CDS
      CCDS54003.1
      UniProtKB/TrEMBL
      A8K1I4
      Related
      ENSP00000442573.3, ENST00000539836.3
      Conserved Domains (4) summary
      COG5048
      Location:103 → 437
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:249 → 269
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:109 → 129
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:233 → 258
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001172670.2 → NP_001166141.1  zinc finger protein 668 isoform a

      See identical proteins and their annotated locations for NP_001166141.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1, 2, and 4 all encode the same isoform (a).
      Source sequence(s)
      AB209710, AK023541, AK308239
      Consensus CDS
      CCDS10701.1
      UniProtKB/Swiss-Prot
      C9JHH8, F5H7E7, Q59EV1, Q8N669, Q96K58, Q9H8L4
      UniProtKB/TrEMBL
      A8K1I4
      Related
      ENSP00000441349.1, ENST00000535577.5
      Conserved Domains (3) summary
      COG5048
      Location:80 → 414
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:226 → 246
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:86 → 106
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_024706.5 → NP_078982.3  zinc finger protein 668 isoform a

      See identical proteins and their annotated locations for NP_078982.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1, 2, and 4 all encode the same isoform (a).
      Source sequence(s)
      AB209710, AC135050, AK023541, BC021997
      Consensus CDS
      CCDS10701.1
      UniProtKB/Swiss-Prot
      C9JHH8, F5H7E7, Q59EV1, Q8N669, Q96K58, Q9H8L4
      UniProtKB/TrEMBL
      A8K1I4
      Related
      ENSP00000300849.4, ENST00000300849.5
      Conserved Domains (3) summary
      COG5048
      Location:80 → 414
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:226 → 246
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:86 → 106
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      31060847..31074240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31448267..31461668 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96K58.4 GenPept UniProtKB/Swiss-Prot:Q96K58

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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