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

Gene ID: 349075, updated on 27-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
  • 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)

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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