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

Summary

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, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Title: ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
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.
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.
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.

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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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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)

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]
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
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
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]
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