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    ZSCAN10 zinc finger and SCAN domain containing 10 [ Homo sapiens (human) ]

    Gene ID: 84891, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZSCAN10provided by HGNC
    Official Full Name
    zinc finger and SCAN domain containing 10provided by HGNC
    Primary source
    HGNC:HGNC:12997
    See related
    Ensembl:ENSG00000130182 MIM:618365; AllianceGenome:HGNC:12997
    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
    OFNS; ZFP206; ZNF206
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ZSCAN10 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3088890..3099294, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3115369..3125775, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3138891..3149295, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984896 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3124519-3124702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7112 Neighboring gene Sharpr-MPRA regulatory region 9802 Neighboring gene RNA, U1 small nuclear 22, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3139191-3139721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3140253-3140782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3142715-3143302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7114 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3151352-3152052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3154929-3155612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3155613-3156296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7118 Neighboring gene uncharacterized LOC124903629 Neighboring gene ZNF205 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3163522-3164110 Neighboring gene zinc finger protein 205

    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. DNA hypomethylation at the ZNF206-exon 5 CpG island associated with neuronal differentiation in mice and development of neuroblastoma in humans. Kawashima H, et al. Int J Oncol, 2012 Jan. PMID 22011711
    2. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Laugwitz L, et al. Brain, 2024 Jul 5. PMID 38386308, Free PMC Article
    3. ZSCAN10 expression corrects the genomic instability of iPSCs from aged donors. Skamagki M, et al. Nat Cell Biol, 2017 Sep. PMID 28846095, Free PMC Article
    4. Identification of aberrant methylation regions in neuroblastoma by screening of tissue-specific differentially methylated regions. Sugito K, et al. Pediatr Blood Cancer, 2013 Mar. PMID 22911660
    5. A transcriptional Map of the FMF region. Bernot A, et al. Genomics, 1998 Jun 1. PMID 9653642

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
      Title: ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
    2. The pluripotency factor ZSCAN10 is poorly expressed in A-iPSCs and addition of ZSCAN10 to the four Yamanaka factors (OCT4, SOX2, KLF4 and c-MYC) during A-iPSC reprogramming normalizes ROS-glutathione homeostasis and the DNA damage response, and recovers genomic stability.
      Title: ZSCAN10 expression corrects the genomic instability of iPSCs from aged donors.
    3. We demonstrated that SLC16A5 and ZNF206 displayed altered methylation patterns in the neuroblastoma genome
      Title: Identification of aberrant methylation regions in neuroblastoma by screening of tissue-specific differentially methylated regions.
    4. Data indicates that changes in DNA methylation levels at the Zfp206-exon 5 might be one of the important factors during neuronal development in mice and the hypomethylation of the homologous region induced ZNF206 expression in humans.
      Title: DNA hypomethylation at the ZNF206-exon 5 CpG island associated with neuronal differentiation in mice and development of neuroblastoma in humans.
    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)

    Genotypes

    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

    Clone Names

    • FLJ14549

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription 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
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    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 and SCAN domain-containing protein 10
    Names
    zinc finger protein 206

    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_001282415.2 → NP_001269344.1  zinc finger and SCAN domain-containing protein 10 isoform 2

      See identical proteins and their annotated locations for NP_001269344.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' structure which results in the use of a downstream in-frame AUG, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK074736, CN366927, CX781288
      Consensus CDS
      CCDS61813.1
      UniProtKB/TrEMBL
      A0A5P9VN71
      Related
      ENSP00000459520.1, ENST00000575108.5
      Conserved Domains (2) summary
      COG5048
      Location:6 → 380
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:130 → 150
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001282416.2 → NP_001269345.1  zinc finger and SCAN domain-containing protein 10 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an exon in the 5' coding region which results in the use of an alternate start codon compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compared to variant 1.
      Source sequence(s)
      AC108134, BC114452, CN366927, CX781288, DA729263
      Consensus CDS
      CCDS61814.1
      UniProtKB/Swiss-Prot
      Q96SZ4
      Related
      ENSP00000440047.2, ENST00000538082.5
      Conserved Domains (4) summary
      COG5048
      Location:263 → 637
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:387 → 407
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:615 → 637
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:428 → 452
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001365272.1 → NP_001352201.1  zinc finger and SCAN domain-containing protein 10 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC108134
      Conserved Domains (3) summary
      COG5048
      Location:218 → 592
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:342 → 362
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl26386
      Location:3 → 132
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    4. NM_001365273.1 → NP_001352202.1  zinc finger and SCAN domain-containing protein 10 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108134
      Consensus CDS
      CCDS61813.1
      UniProtKB/TrEMBL
      A0A5P9VN71
      Conserved Domains (2) summary
      COG5048
      Location:6 → 380
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:130 → 150
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_032805.3 → NP_116194.2  zinc finger and SCAN domain-containing protein 10 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC108134, AK027455, BC114452, CN366927, CX781288
      Consensus CDS
      CCDS10493.2
      UniProtKB/TrEMBL
      I3L1J3
      Related
      ENSP00000458879.2, ENST00000576985.6
      Conserved Domains (6) summary
      cd07936
      Location:40 → 124
      SCAN; SCAN oligomerization domain
      PHA03418
      Location:156 → 314
      PHA03418; hypothetical E4 protein; Provisional
      COG5048
      Location:400 → 774
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:524 → 544
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:752 → 774
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:565 → 589
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      3088890..3099294 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      3115369..3125775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SZ4.1 GenPept UniProtKB/Swiss-Prot:Q96SZ4

    Gene LinkOut

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

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