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    ZNF713 zinc finger protein 713 [ Homo sapiens (human) ]

    Gene ID: 349075, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF713provided by HGNC
    Official Full Name
    zinc finger protein 713provided by HGNC
    Primary source
    HGNC:HGNC:22043
    See related
    Ensembl:ENSG00000178665 MIM:616181; AllianceGenome:HGNC:22043
    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
    Summary
    The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene. This mutation is thought to effect the expression of this gene and it has been proposed that it may be associated with Autistic Spectrum Disorder. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in brain (RPKM 2.1), testis (RPKM 1.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF713 in Genome Data Viewer
    Location:
    7p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (55887456..55942225)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (56047750..56102013)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (55955149..56009918)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene septin 14 Neighboring gene cell division cycle associated 8 pseudogene Neighboring gene cell division cycle 42 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18191 Neighboring gene fragile site, folic acid type, rare, fra(7)(p11.2) Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:55979512-55980711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:56032587-56033320 Neighboring gene mitochondrial ribosomal protein S17 Neighboring gene nipsnap homolog 2 Neighboring gene MPRA-validated peak6528 silencer

    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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    Related articles in PubMed

    1. A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. Metsu S, et al. Hum Mutat, 2014 Nov. PMID 25196122
    2. The Repeat Expansion Diseases: The dark side of DNA repair. Zhao XN, et al. DNA Repair (Amst), 2015 Aug. PMID 26002199, Free PMC Article
    3. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article
    4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MRPS17

    Homology

    Clone Names

    • FLJ39963

    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 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 sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 713

    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_001366796.2 → NP_001353725.1  zinc finger protein 713 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092579, AC092647
      Consensus CDS
      CCDS94106.1
      UniProtKB/TrEMBL
      A0A8I5JYA4
      Related
      ENSP00000487818.1, ENST00000633730.1
      Conserved Domains (5) summary
      smart00349
      Location:19 → 78
      KRAB; krueppel associated box
      COG5048
      Location:271 → 336
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:325 → 405
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:331 → 351
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:371 → 396
      zf-H2C2_2; Zinc-finger double domain

    2. NM_182633.3 → NP_872439.2  zinc finger protein 713 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC092579, AC092647, AI274573, AL539604, BC094796, BM991493, DA690512, DA743742
      Consensus CDS
      CCDS34639.2
      UniProtKB/Swiss-Prot
      A0A0M3HEQ9, Q8N859
      Related
      ENSP00000416662.3, ENST00000429591.4
      Conserved Domains (4) summary
      smart00349
      Location:32 → 91
      KRAB; krueppel associated box
      COG5048
      Location:284 → 349
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:344 → 364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:384 → 409
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      55887456..55942225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      56047750..56102013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N859.2 GenPept UniProtKB/Swiss-Prot:Q8N859

    Gene LinkOut

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

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