ZNF341 zinc finger protein 341 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF341provided by HGNC
Official Full Name: zinc finger protein 341provided by HGNC
Primary source: HGNC:HGNC:15992
See related: Ensembl:ENSG00000131061 MIM:618269; AllianceGenome:HGNC:15992
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: HIES3
Summary: Enables DNA binding activity and DNA-binding transcription activator activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleus. Implicated in hyper IgE recurrent infection syndrome 3. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 1.6), spleen (RPKM 1.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.22

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (33731996..33792269)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (35458351..35518627)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (32319802..32380075)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Inherited human ZNF341 deficiency.
Title: Inherited human ZNF341 deficiency.
Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.
Title: Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.
Hyper IgE Syndrome in an Isolated Population in Israel.
Title: Hyper IgE Syndrome in an Isolated Population in Israel.
Human ZNF341 is essential for the STAT3 transcription-dependent autoinduction and sustained activity of STAT3.
Title: A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Study reports two distinct homozygous nonsense mutations in exons 6 and 8 of ZNF341 in four consanguineous families with recurrent bacterial and fungal infections. ZNF341 mutations segregate with a phenotype resembling hyper-immunoglobulin E syndrome. Authors describe ZNF341 as a positive regulator of STAT3 expression and report the clinical and laboratory phenotype of individuals lacking ZNF341.
Title: ZNF341 controls STAT3 expression and thereby immunocompetence.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyper-IgE recurrent infection syndrome 3, autosomal recessive MedGen: C4748969 OMIM: 618282 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human 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

Z94663 (e-PCR)
- UniSTS:48657

RH92431 (e-PCR)
- UniSTS:83884

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity	IDA Inferred from Direct Assay more info	PubMed
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 positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger protein 341

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.

Genomic

NG_053072.1 RefSeqGene

Range

5237..65510

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001282933.2 → NP_001269862.1 zinc finger protein 341 isoform 1

See identical proteins and their annotated locations for NP_001269862.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK027550, BC094738, BC132873

Consensus CDS

CCDS74719.1

UniProtKB/Swiss-Prot

A2RUF4, B2RXE5, B7ZM09, Q5JXM8, Q96ST5, Q9BYN7

UniProtKB/TrEMBL

Q504V9

Related

ENSP00000364346.1, ENST00000375200.6

Conserved Domains (3) summary

COG5048
Location:323 → 729

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

sd00017
Location:568 → 588

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:542 → 562

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_001282935.2 → NP_001269864.1 zinc finger protein 341 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and initiates translation from an alternate start codon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK027550, BC094738, DB091229

UniProtKB/TrEMBL

Q504V9

Conserved Domains (5) summary

COG5048
Location:233 → 639

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

sd00017
Location:478 → 498

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:452 → 472

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:233 → 254

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:246 → 271

zf-H2C2_2; Zinc-finger double domain
NM_032819.5 → NP_116208.3 zinc finger protein 341 isoform 2

See identical proteins and their annotated locations for NP_116208.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AK027550, BC094738, BC157823

Consensus CDS

CCDS13227.1

UniProtKB/TrEMBL

B3KU97

Related

ENSP00000344308.2, ENST00000342427.6

Conserved Domains (3) summary

COG5048
Location:316 → 722

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

sd00017
Location:561 → 581

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:535 → 555

ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

NR_104259.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK027550, BC063492, BC094738, DB091229

Related

ENST00000483118.5