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

    Gene ID: 84450, updated on 28-Oct-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
    mouse all
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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 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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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