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

Summary

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

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_000001.11 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?

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.
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 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76440 (e-PCR)
- UniSTS:21516

SHGC-110313 (e-PCR)
- UniSTS:167770

RH102609 (e-PCR)
- UniSTS:96943

RH80566 (e-PCR)
- UniSTS:90074

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)

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

Status: VALIDATED

Source sequence(s)

AL451054, AL592310
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