ZNF699 zinc finger protein 699 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF699provided by HGNC
Official Full Name: zinc finger protein 699provided by HGNC
Primary source: HGNC:HGNC:24750
See related: Ensembl:ENSG00000196110 MIM:609571; AllianceGenome:HGNC:24750
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
Also known as: hang; DEGCAGS
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 transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 1.9), endometrium (RPKM 1.5) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 19p13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (9291140..9309838, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (9417345..9436045, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (9401816..9420514, 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?

Results show no associations between polymorphisms in ZNF699 and alcohol dependence per se but s significant allelic association was found between rs7254880 in ZNF699 and alcohol-related cirrhosis.
Title: Phenotypic heterogeneity in study populations may significantly confound the results of genetic association studies on alcohol dependence.
Observational study of gene-disease association. (HuGE Navigator)
Title: Alcohol dependence is associated with the ZNF699 gene, a human locus related to Drosophila hangover, in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD) sample.
In analyses of genetically independent cases and controls, four of the seven single markers show strong evidence for association with alcohol dependence, and the most significant single marker, rs7254880, tags an associated haplotype with frequency 0.071.
Title: Alcohol dependence is associated with the ZNF699 gene, a human locus related to Drosophila hangover, in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD) sample.

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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
DEGCAGS syndrome MedGen: C5561967 OMIM: 619488 GeneReviews: Not available	Compare labs

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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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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: zinc finger protein 699

Names: hangover homolog; hangover, Drosophila, homolog of

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_198535.3 → NP_940937.1 zinc finger protein 699

See identical proteins and their annotated locations for NP_940937.1

Status: VALIDATED

Source sequence(s)

AC011451, BC109267, BX280105

Consensus CDS

CCDS42495.1

UniProtKB/Swiss-Prot

Q32M78, Q8N9A1

Related

ENSP00000467723.1, ENST00000591998.6

Conserved Domains (6) summary

smart00349
Location:19 → 79

KRAB; krueppel associated box

COG5048
Location:171 → 605

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

sd00017
Location:477 → 497

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:475 → 497

zf-C2H2; Zinc finger, C2H2 type

pfam01352
Location:19 → 58

KRAB; KRAB box

pfam13465
Location:545 → 570

zf-H2C2_2; Zinc-finger double domain