ZNF676 zinc finger protein 676 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF676provided by HGNC
Official Full Name: zinc finger protein 676provided by HGNC
Primary source: HGNC:HGNC:20429
See related: Ensembl:ENSG00000196109
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
Expression: Broad expression in testis (RPKM 3.0), thyroid (RPKM 2.0) and 14 other tissues See more
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Genomic context

Location:: 19p12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (22179089..22196951, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (22361891..22379753, complement)

Chromosome 19 - NC_000019.10 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?

Transcriptome wide association study results identified two novel genes as statistically significantly associated with nonobstructive azoospermia susceptibility: PILRA and ZNF676.
Title: Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population.
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
Title: Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.

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

Associated conditions

Description	Tests
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. GeneReviews: Not available
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. GeneReviews: Not available

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

D19S1074 (e-PCR)
- UniSTS:75866

NoName (e-PCR)
- UniSTS:486333

D17S1691 (e-PCR)
- UniSTS:18656

Homology

Homologs of the ZNF676 gene: The ZNF676 gene is conserved in chimpanzee, Rhesus monkey, mouse, and rat.
Orthologs

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	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription, DNA-templated	IBA Inferred from Biological aspect of Ancestor more info	PubMed

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 676

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_001001411.3 → NP_001001411.2 zinc finger protein 676

See identical proteins and their annotated locations for NP_001001411.2

Status: VALIDATED

Source sequence(s)

AC073539, AK097798, BX281304

Consensus CDS

CCDS42539.1

UniProtKB/Swiss-Prot

Q8N7Q3

Related

ENSP00000380310.1, ENST00000397121.3

Conserved Domains (5) summary

smart00349
Location:1 → 32

KRAB; krueppel associated box

COG5048
Location:195 → 580

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:507 → 527

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:114 → 135

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:547 → 572

zf-H2C2_2; Zinc-finger double domain