ZNF512B Gene

Name	zinc finger protein 512B
Description	Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of miRNA transcription. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent mechanistic studies indicate that ZNF512B functions as a transcription factor that plays a pivotal role in modulating TGF‑β signaling and microRNA regulatory networks. In experimental systems, enhanced ZNF512B expression increases TGF‑β signaling while its knockdown produces the opposite effect, suggesting that ZNF512B is an important positive regulator of this neuroprotective pathway. Moreover, ZNF512B (also referred to as GAM or ZFp/ZNF512B) has been shown to impair c‑Myc–induced activation of the miR‑17‑92 promoter, regulate the levels of microRNAs—including those from the let‑7 family—and affect the processing machinery by modulating Drosha levels via an RNA‑dependent interaction. These findings underscore its broader role in balancing cell cycle progression, apoptosis, and differentiation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn parallel, multiple genetic studies have linked ZNF512B to neurodegenerative disorders. In the context of amyotrophic lateral sclerosis (ALS), a functional single‑nucleotide polymorphism (rs2275294) located in an enhancer region of the ZNF512B gene has been repeatedly associated with increased susceptibility and, in some studies, with a shorter survival time among patients. Furthermore, ZNF512B has also surfaced as a candidate gene in Parkinson’s disease (PD) genetic analyses. The consistent associations detected across different populations indicate that alterations in ZNF512B expression or function could underlie key pathogenic mechanisms in these diseases."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Esmerina Tili, Jean-Jacques Michaille, Chang-Gong Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GAM/ZFp/ZNF512B is central to a gene sensor circuitry involving cell-cycle regulators, TGF{beta} effectors, Drosha and microRNAs with opposite oncogenic potentials."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkq637"}], "href": "https://doi.org/10.1093/nar/gkq637"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20639536"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20639536"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Aritoshi Iida, Atsushi Takahashi, Michiaki Kubo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddr268"}], "href": "https://doi.org/10.1093/hmg/ddr268"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21665992"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21665992"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Syuichi Tetsuka, Mitsuya Morita, Aritoshi Iida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jns.2012.10.029"}], "href": "https://doi.org/10.1016/j.jns.2012.10.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23168171"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23168171"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Xinglong Yang, Quanzhen Zhao, Ran An, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of the functional SNP rs2275294 in ZNF512B with risk of amyotrophic lateral sclerosis and Parkinson's disease in Han Chinese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Amyotroph Lateral Scler Frontotemporal Degener (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3109/21678421.2015.1054291"}], "href": "https://doi.org/10.3109/21678421.2015.1054291"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26313240"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26313240"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Xiao-Dong Ju, Tao Liu, Jing Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Single-nucleotide Polymorphism rs2275294 in ZNF512B is not Associated with Susceptibility to Amyotrophic Lateral Sclerosis in a Large Chinese Cohort."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Chin Med J (Engl) (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4103/0366-6999.171421"}], "href": "https://doi.org/10.4103/0366-6999.171421"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26668144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26668144"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Faranak Madadi, Mahmoud Shekari Khaniani, Ehsan Esmaili Shandiz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Test Mol Biomarkers (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/gtmb.2016.0133"}], "href": "https://doi.org/10.1089/gtmb.2016.0133"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27612022"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27612022"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Syuichi Tetsuka "}, {"type": "b", "children": [{"type": "t", "text": "Difficulty in determining the association of a single nucleotide polymorphism in the ZNF512B gene with the risk and prognosis of amyotrophic lateral sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Rinsho Shinkeigaku (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.5692/clinicalneurol.cn-001032"}], "href": "https://doi.org/10.5692/clinicalneurol.cn-001032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28740063"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28740063"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Pingping Ning, Xinglong Yang, Baiyuan Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Meta-analysis of the association between ZNF512B polymorphism rs2275294 and risk of amyotrophic lateral sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurol Sci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10072-018-3411-5"}], "href": "https://doi.org/10.1007/s10072-018-3411-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29713939"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29713939"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Haixia Jiang, Baiyuan Yang, Fang Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of Single Nucleotide Polymorphism at rs2275294 in the ZNF512B Gene with Prognosis in Amyotrophic Lateral Sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromolecular Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12017-020-08634-y"}], "href": "https://doi.org/10.1007/s12017-020-08634-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33387304"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33387304"}]}]}]}
Synonyms	GM632
Proteins	Z512B_HUMAN
NCBI Gene ID	57473
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ZNF512B has 5,683 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 108 datasets.

Click the + buttons to view associations for ZNF512B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ZNF512B Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ZNF512B gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ZNF512B gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ZNF512B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ZNF512B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ZNF512B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ZNF512B gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ZNF512B gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ZNF512B gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ZNF512B gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ZNF512B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ZNF512B protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ZNF512B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ZNF512B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ZNF512B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ZNF512B protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ZNF512B gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ZNF512B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ZNF512B protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ZNF512B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ZNF512B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ZNF512B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ZNF512B gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ZNF512B gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ZNF512B protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ZNF512B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ZNF512B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ZNF512B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ZNF512B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ZNF512B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ZNF512B gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ZNF512B gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ZNF512B gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ZNF512B from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of ZNF512B gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with ZNF512B gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing ZNF512B from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of ZNF512B gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of ZNF512B gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Kinase Perturbations	kinase perturbations changing expression of ZNF512B gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ZNF512B gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.