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

Gene ID: 84450, updated on 12-Oct-2019

Summary

Official Symbol
ZNF512provided by HGNC
Official Full Name
zinc finger protein 512provided by HGNC
Primary source
HGNC:HGNC:29380
See related
Ensembl:ENSG00000243943
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

Genomic context

See ZNF512 in Genome Data Viewer
Location:
2p23.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27582969..27623217)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27805836..27846082)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 16 pseudogene Neighboring gene chromosome 2 open reading frame 16 Neighboring gene coiled-coil domain containing 121 Neighboring gene GPN-loop GTPase 1 Neighboring gene SPT7 like, STAGA complex gamma subunit Neighboring gene solute carrier family 4 member 1 adaptor protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA 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
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: GPN1

Homology

Clone Names

  • FLJ51176, KIAA1805, MGC111046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001271286.1NP_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/Swiss-Prot
    Q96ME7
    Related
    ENSP00000407038.2, ENST00000416005.6
    Conserved Domains (1) summary
    COG5189
    Location:378434
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
  2. NM_001271287.1NP_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)
    BC093041, BF593724, BP251717
    Consensus CDS
    CCDS59429.1
    UniProtKB/Swiss-Prot
    Q96ME7
    Related
    ENSP00000451572.2, ENST00000556601.5
    Conserved Domains (1) summary
    COG5189
    Location:330386
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
  3. NM_001271288.1NP_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)
    AK074460, BC043221, BF593724, BP251717
    Consensus CDS
    CCDS59429.1
    UniProtKB/Swiss-Prot
    Q96ME7
    Conserved Domains (1) summary
    COG5189
    Location:330386
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
  4. NM_001271289.1NP_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)
    AK293771, BC093041, BF593724, BP251717
    UniProtKB/Swiss-Prot
    Q96ME7
    UniProtKB/TrEMBL
    B4DES6
    Conserved Domains (1) summary
    COG5189
    Location:302358
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
  5. NM_001271318.1NP_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/Swiss-Prot
    Q96ME7
    UniProtKB/TrEMBL
    B7Z9P6
    Related
    ENSP00000395660.2, ENST00000413371.6
    Conserved Domains (1) summary
    COG5189
    Location:330386
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
  6. NM_032434.4NP_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
    Q96ME7
    Related
    ENSP00000347648.3, ENST00000355467.6
    Conserved Domains (1) summary
    COG5189
    Location:407463
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27582969..27623217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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