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

Gene ID: 84891, updated on 27-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
  • 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)

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

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