IFNK interferon kappa [Homo sapiens (human)] - Gene

Summary

Official Symbol: IFNKprovided by HGNC
Official Full Name: interferon kappaprovided by HGNC
Primary source: HGNC:HGNC:21714
See related: Ensembl:ENSG00000147896 MIM:615326; AllianceGenome:HGNC:21714
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IFNT1; INFE1
Summary: This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 9p21.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (27524290..27526498)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (27534854..27537062)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (27524288..27526496)

Chromosome 9 - NC_000009.12 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?

Keratinocytes sense and eliminate CRISPR DNA through STING/IFN-kappa activation and APOBEC3G induction.
Title: Keratinocytes sense and eliminate CRISPR DNA through STING/IFN-κ activation and APOBEC3G induction.
Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.
Title: Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.
IFN-kappa is critical for normal wound repair and is decreased in diabetic wounds.
Title: IFN-κ is critical for normal wound repair and is decreased in diabetic wounds.
IFN-kappa Is a Rheostat for Development of Psoriasiform Inflammation.
Title: IFN-κ Is a Rheostat for Development of Psoriasiform Inflammation.
Interferon Kappa Is Important for Keratinocyte Host Defense against Herpes Simplex Virus-1.
Title: Interferon Kappa Is Important for Keratinocyte Host Defense against Herpes Simplex Virus-1.
MDA5(+) Dermatomyositis Is Associated with Stronger Skin Type I Interferon Transcriptomic Signature with Upregulation of IFN-kappa Transcript.
Title: MDA5(+) Dermatomyositis Is Associated with Stronger Skin Type I Interferon Transcriptomic Signature with Upregulation of IFN-κ Transcript.
The loss of E5 in keratinocytes maintaining the complete HPV16 genome results in the derepression of IFNK transcription and subsequent JAK/STAT-dependent upregulation of several IFN-stimulated genes (ISGs) at both the mRNA and protein levels.
Title: Human Papillomavirus 16 E5 Inhibits Interferon Signaling and Supports Episomal Viral Maintenance.
investigation of common variable immunodeficiency (CVID) from 2 German families; report on the occurrence of a common and one novel truncating IFNK mutation in cases with CVID; the frequency distribution of c.30_31insTGTT in cases and controls as well as the observed segregation patterns in CVID families exclude IFNK mutations as major risk factor in CVID
Title: Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency.
These results suggest that high-risk human papillomavirus 31 target interferon kappa to prevent Sp100 expression and identify Sp100 as an interferon-stimulated gene with anti-human papillomavirus activity.
Title: Interferon Kappa Inhibits Human Papillomavirus 31 Transcription by Inducing Sp100 Proteins.
This study demonstrates that E2 proteins of high risk human papillomavirus reduce STING and IFN-kappa transcription.
Title: E2 proteins of high risk human papillomaviruses down-modulate STING and IFN-κ transcription in keratinocytes.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
A 2-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of urinary symptoms after radiotherapy for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. EBI GWAS Catalog EBI GWAS CatalogPubMed
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables type I interferon receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables type I interferon receptor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell activation involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in T cell activation involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in adaptive immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to virus	NAS Non-traceable Author Statement more info	PubMed
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in humoral immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in natural killer cell activation	NAS Non-traceable Author Statement more info	PubMed
involved_in natural killer cell activation involved in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of innate immune response	TAS Traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in response to exogenous dsRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to virus	IEP Inferred from Expression Pattern more info	PubMed
involved_in type I interferon-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in type I interferon-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IC Inferred by Curator more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: interferon kappa

Names: IFN-kappa; interferon-like protein

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.