ZNF8 zinc finger protein 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF8provided by HGNC
Official Full Name: zinc finger protein 8provided by HGNC
Primary source: HGNC:HGNC:13154
See related: Ensembl:ENSG00000278129 MIM:194532; AllianceGenome:HGNC:13154
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: HF.18; Zfp128
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 transcription by RNA polymerase II. Predicted to act upstream of or within BMP signaling pathway. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis (RPKM 2.9), bone marrow (RPKM 2.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.43

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (58278955..58302791)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (61375360..61399206)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (58790321..58814157)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZNF8-miR-552-5p Axis Modulates ACSL4-Mediated Ferroptosis in Hepatocellular Carcinoma.
Title: ZNF8-miR-552-5p Axis Modulates ACSL4-Mediated Ferroptosis in Hepatocellular Carcinoma.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66637 (e-PCR)
- UniSTS:2069

D19S989 (e-PCR)
- UniSTS:74595

Readthrough ZNF8-ERVK3-1

Readthrough gene: ZNF8-ERVK3-1, Included gene: ERVK3-1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: zinc finger protein 8

Names: zinc finger protein 272; zinc finger protein 8 (clone HF.18); zinc finger protein HF.18

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_021089.3 → NP_066575.2 zinc finger protein 8

See identical proteins and their annotated locations for NP_066575.2

Status: VALIDATED

Source sequence(s)

AC020915, AK093110, AK225825

Consensus CDS

CCDS12974.1

UniProtKB/Swiss-Prot

P17098, Q6PI99

UniProtKB/TrEMBL

B3KS94

Related

ENSP00000477716.1, ENST00000621650.2

Conserved Domains (4) summary

smart00349
Location:25 → 85

KRAB; krueppel associated box

COG5048
Location:167 → 404

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:259 → 279

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:467 → 489

zf-C2H2; Zinc finger, C2H2 type