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ZNF512 zinc finger protein 512 [ Homo sapiens (human) ]

Gene ID: 84450, updated on 27-Nov-2024

Summary

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Official Symbol
ZNF512provided by HGNC
Official Full Name
zinc finger protein 512provided by HGNC
Primary source
HGNC:HGNC:29380
See related
Ensembl:ENSG00000243943 MIM:620921; AllianceGenome:HGNC:29380
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]
Expression
Ubiquitous expression in ovary (RPKM 17.5), endometrium (RPKM 14.4) and 24 other tissues See more
Orthologs
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Genomic context

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See ZNF512 in Genome Data Viewer
Location:
2p23.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27583042..27623217)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27626128..27666302)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27805909..27846084)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene glucokinase regulator Neighboring gene Sharpr-MPRA regulatory region 4379 Neighboring gene SPATA31 subfamily H member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27788766-27789965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15508 Neighboring gene Sharpr-MPRA regulatory region 1109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15511 Neighboring gene coiled-coil domain containing 121 Neighboring gene small nucleolar RNA SNORA36 family Neighboring gene GPN-loop GTPase 1

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. The clinical assessment of amyotrophic lateral sclerosis patients' prognosis by ZNF512B gene, neck flexor muscle power score and body mass index (BMI). Yu CJ, et al. BMC Neurol, 2018 Dec 19. PMID 30567526, Free PMC Article
  2. Variations of chromosome 2 gene expressions among patients with lung cancer or non-cancer. Bao L, et al. Cell Biol Toxicol, 2016 Oct. PMID 27301951
  3. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Kraja AT, et al. Diabetes, 2011 Apr. PMID 21386085, Free PMC Article
  4. Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities. Docherty SJ, et al. BMC Genet, 2010 Jul 5. PMID 20602751, Free PMC Article
  5. HIV-1 Vpr degrades the HLTF DNA translocase in T cells and macrophages. Lahouassa H, et al. Proc Natl Acad Sci U S A, 2016 May 10. PMID 27114546, Free PMC Article

See all (80) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. risk (C) allele of the SNP (rs2275294) in the ZNF512B gene, cervical flexor muscle power and body weight index might have clinical potential for amyotrophic lateral sclerosis prognostication
    Title: The clinical assessment of amyotrophic lateral sclerosis patients' prognosis by ZNF512B gene, neck flexor muscle power score and body mass index (BMI).
  2. MFSD2B, CCL20 and STAT1, or STARD7 and ZNF512 genes may be risk or protect factors in prognosis of ADC; HTR2B, DPP4, and TGFBRAP1 genes may be risk factors in prognosis of SQC.
    Title: Variations of chromosome 2 gene expressions among patients with lung cancer or non-cancer.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.
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

EBI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
EBI GWAS Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
EBI GWAS Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
EBI GWAS Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
EBI GWAS Catalog

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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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr downregulates ZNF512 in HeLa cells within 12 hours of exposure 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

Potential readthrough

Included gene: GPN1

Homology

Clone Names

  • FLJ51176, KIAA1805, MGC111046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity NAS
Non-traceable Author Statement
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 regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
zinc finger protein 512

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_001271286.2 → NP_001258215.1  zinc finger protein 512 isoform b

    See identical proteins and their annotated locations for NP_001258215.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site and lacks an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC074091, AK074460, AK299818, BF593724, BP251717
    Consensus CDS
    CCDS59428.1
    UniProtKB/TrEMBL
    B7Z9P6
    Related
    ENSP00000407038.2, ENST00000416005.6
    Conserved Domains (1) summary
    COG5189
    Location:378 → 434
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

  2. NM_001271287.2 → NP_001258216.1  zinc finger protein 512 isoform c

    See identical proteins and their annotated locations for NP_001258216.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a portion of the 5' coding region, and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform (c).
    Source sequence(s)
    AC074091, BC093041, BF593724, BP251717
    Consensus CDS
    CCDS59429.1
    UniProtKB/TrEMBL
    B7Z9P6
    Related
    ENSP00000451572.2, ENST00000556601.5
    Conserved Domains (1) summary
    COG5189
    Location:330 → 386
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

  3. NM_001271288.2 → NP_001258217.1  zinc finger protein 512 isoform c

    See identical proteins and their annotated locations for NP_001258217.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks a portion of the 5' coding region, and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform (c).
    Source sequence(s)
    AC074091, AK074460, BC043221, BF593724, BP251717
    Consensus CDS
    CCDS59429.1
    UniProtKB/TrEMBL
    B7Z9P6
    Conserved Domains (1) summary
    COG5189
    Location:330 → 386
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

  4. NM_001271289.2 → NP_001258218.1  zinc finger protein 512 isoform d

    See identical proteins and their annotated locations for NP_001258218.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks a portion of the 5' coding region and lacks an alternate internal exon, compared to variant 1. This variant initiates translation at an alternate downstream start codon. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AC074091, AK293771, BC093041, BF593724, BP251717
    UniProtKB/TrEMBL
    B4DES6, B7Z9P6
    Conserved Domains (1) summary
    COG5189
    Location:302 → 358
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

  5. NM_001271318.2 → NP_001258247.1  zinc finger protein 512 isoform c

    See identical proteins and their annotated locations for NP_001258247.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon near the 5' end, and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform (c).
    Source sequence(s)
    AC074091, AK074460, AK316011, BF593724, BP251717
    Consensus CDS
    CCDS59429.1
    UniProtKB/TrEMBL
    B7Z9P6
    Related
    ENSP00000395660.2, ENST00000413371.6
    Conserved Domains (1) summary
    COG5189
    Location:330 → 386
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

  6. NM_032434.4 → NP_115810.2  zinc finger protein 512 isoform a

    See identical proteins and their annotated locations for NP_115810.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC074091, AK057028, AK074460, BF593724, BP251717
    Consensus CDS
    CCDS1758.1
    UniProtKB/Swiss-Prot
    B4DSM5, Q53RZ7, Q86XK6, Q96JM0, Q96ME7
    UniProtKB/TrEMBL
    B7Z9P6
    Related
    ENSP00000347648.3, ENST00000355467.6
    Conserved Domains (2) summary
    COG5189
    Location:407 → 463
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    pfam14353
    Location:169 → 248
    CpXC; CpXC protein

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    27583042..27623217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    27626128..27666302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96ME7.2 GenPept UniProtKB/Swiss-Prot:Q96ME7

Gene LinkOut

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