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ZNF678 zinc finger protein 678 [ Homo sapiens (human) ]

Gene ID: 339500, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF678provided by HGNC
Official Full Name
zinc finger protein 678provided by HGNC
Primary source
HGNC:HGNC:28652
See related
Ensembl:ENSG00000181450 AllianceGenome:HGNC:28652
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
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 1.9), endometrium (RPKM 1.5) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZNF678 in Genome Data Viewer
Location:
1q42.13
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (227563556..227679669)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (226752490..226868604)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227751257..227867370)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373122 Neighboring gene tubulin beta 8 class VIII pseudogene 9 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:227719584-227720783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227735098-227735598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2679 Neighboring gene RNA, 5S ribosomal pseudogene 77 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227767411-227767659 Neighboring gene mitochondrial ribosomal protein L57 pseudogene 2 Neighboring gene MPRA-validated peak744 silencer Neighboring gene family with sequence similarity 133 member A pseudogene Neighboring gene MPRA-validated peak745 silencer Neighboring gene MPRA-validated peak746 silencer Neighboring gene vomeronasal 1 receptor 15 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227880161-227880375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:227898535-227899471 Neighboring gene zinc finger protein 847, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227915603-227916208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1899 Neighboring gene synaptosome associated protein 47 Neighboring gene jumonji domain containing 4

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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
Genome-wide association analysis identifies 20 loci that influence adult height.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ18355, FLJ22822, MGC15634, MGC42493

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II 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 678
Names
hypothetical protein MGC42493

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_001367909.1 → NP_001354838.1  zinc finger protein 678 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL451054, AL592310
    Consensus CDS
    CCDS1560.1
    UniProtKB/Swiss-Prot
    Q5SXM1, Q8IVQ9
    Related
    ENSP00000344828.4, ENST00000343776.10

  2. NM_001367910.1 → NP_001354839.1  zinc finger protein 678 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL451054, AL592310
    Consensus CDS
    CCDS1560.1
    UniProtKB/Swiss-Prot
    Q5SXM1, Q8IVQ9

  3. NM_001367911.1 → NP_001354840.1  zinc finger protein 678 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL451054, AL592310

  4. NM_178549.4 → NP_848644.2  zinc finger protein 678 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL451054, AL592310
    Conserved Domains (5) summary
    smart00349
    Location:44 → 101
    KRAB; krueppel associated box
    COG5048
    Location:138 → 536
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:378 → 398
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:44 → 83
    KRAB; KRAB box
    pfam13465
    Location:334 → 359
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_102302.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451054, AL592310

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    227563556..227679669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    226752490..226868604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032755.1: Suppressed sequence

    Description
    NM_032755.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5SXM1.1 GenPept UniProtKB/Swiss-Prot:Q5SXM1

Gene LinkOut

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

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