ZNF512B zinc finger protein 512B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF512Bprovided by HGNC
Official Full Name: zinc finger protein 512Bprovided by HGNC
Primary source: HGNC:HGNC:29212
See related: Ensembl:ENSG00000196700 MIM:617886; AllianceGenome:HGNC:29212
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: GM632
Summary: 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, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (63956704..63969930, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (65777665..65789614, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (62588057..62601283, complement)

Chromosome 20 - NC_000020.11 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?

Association of Single Nucleotide Polymorphism at rs2275294 in the ZNF512B Gene with Prognosis in Amyotrophic Lateral Sclerosis.
Title: Association of Single Nucleotide Polymorphism at rs2275294 in the ZNF512B Gene with Prognosis in Amyotrophic Lateral Sclerosis.
Five case-control studies involving 2559 patients with sporadic amyotrophic lateral sclerosis (ALS) and 5740 controls were analyzed. Based on random-effects meta-analysis, the ZNF512B polymorphism rs2275294 was associated with increased risk of ALS disease in an allele model. The available evidence suggests that the ZNF512B polymorphism rs2275294 is associated with ALS risk.
Title: Meta-analysis of the association between ZNF512B polymorphism rs2275294 and risk of amyotrophic lateral sclerosis.
Single nucleotide polymorphism (SNP) rs2275294 associated with susceptibility to sporadic ALS (sALS) in the ZNF512B gene on chromosome 20q13.33.
Title: Difficulty in determining the association of a single nucleotide polymorphism in the ZNF512B gene with the risk and prognosis of amyotrophic lateral sclerosis.
Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population.
Title: Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population.
The SNP rs2275294 in ZNF512B is not considered to be associated with ALS susceptibility in the Chinese population. Our
Title: Single-nucleotide Polymorphism rs2275294 in ZNF512B is not Associated with Susceptibility to Amyotrophic Lateral Sclerosis in a Large Chinese Cohort.
In conclusion, our case-control study suggests that the CC genotype and C allele at rs2275294 are associated with increased risk of ALS in Han Chinese, particularly females.
Title: Association of the functional SNP rs2275294 in ZNF512B with risk of amyotrophic lateral sclerosis and Parkinson's disease in Han Chinese.
The objective of our study was to examine whether the new single-nucleotide polymorphism in the ZNF512B gene might influence the phenotype of amyotrophic lateral sclerosis
Title: ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis.
A functional SNP (rs2275294) in ZNF512B was found to be significantly associated with amyotrophic lateral sclerosis in Japanese.
Title: A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.
Evidence that GAM/ZFp/ZNF512B may potentially maintain homeostasis by affecting the levels of regulators such as E2F1 and Ras, by modulating miR-17-92 miRNAs, by interacting with Drosha, and by interfering with TGFbeta signaling.
Title: GAM/ZFp/ZNF512B is central to a gene sensor circuitry involving cell-cycle regulators, TGF{beta} effectors, Drosha and microRNAs with opposite oncogenic potentials.

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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

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of zinc finger protein 512B (ZNF512B) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AB056405 (e-PCR)
- UniSTS:480121

RH65337 (e-PCR)
- UniSTS:86980

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: zinc finger protein 512B

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_020713.3 → NP_065764.1 zinc finger protein 512B

See identical proteins and their annotated locations for NP_065764.1

Status: VALIDATED

Source sequence(s)

AL118506, AL834525, AW453003, BC125128, BC125129

Consensus CDS

CCDS13548.1

UniProtKB/Swiss-Prot

Q08AK9, Q96KM6, Q9ULM4

Related

ENSP00000358904.1, ENST00000369888.6

Conserved Domains (2) summary

sd00017
Location:596 → 617

ZF_C2H2; C2H2 Zn finger [structural motif]

cl26386
Location:223 → 448

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

63956704..63969930 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440326.1 → XP_047296282.1 zinc finger protein 512B isoform X1
XM_047440327.1 → XP_047296283.1 zinc finger protein 512B isoform X2

UniProtKB/Swiss-Prot

Q08AK9, Q96KM6, Q9ULM4
XM_011528930.3 → XP_011527232.1 zinc finger protein 512B isoform X3

Conserved Domains (3) summary

PRK12323
Location:237 → 462

PRK12323; DNA polymerase III subunits gamma and tau; Provisional

sd00017
Location:610 → 631

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00020
Location:526 → 555

ZF_C2H2; C2H2 Zn finger [structural motif]
XM_047440328.1 → XP_047296284.1 zinc finger protein 512B isoform X4
XM_047440329.1 → XP_047296285.1 zinc finger protein 512B isoform X5
XM_011528933.3 → XP_011527235.1 zinc finger protein 512B isoform X6

Conserved Domains (2) summary

PTZ00249
Location:294 → 430

PTZ00249; variable surface protein Vir28; Provisional

PRK14950
Location:236 → 308

PRK14950; DNA polymerase III subunits gamma and tau; Provisional

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

65777665..65789614 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323767.1 → XP_054179742.1 zinc finger protein 512B isoform X1
XM_054323768.1 → XP_054179743.1 zinc finger protein 512B isoform X2

UniProtKB/Swiss-Prot

Q08AK9, Q96KM6, Q9ULM4
XM_054323769.1 → XP_054179744.1 zinc finger protein 512B isoform X3