Format

Send to:

Choose Destination

IRF4 interferon regulatory factor 4 [ Homo sapiens (human) ]

Gene ID: 3662, updated on 11-Oct-2020

Summary

Official Symbol
IRF4provided by HGNC
Official Full Name
interferon regulatory factor 4provided by HGNC
Primary source
HGNC:HGNC:6119
See related
Ensembl:ENSG00000137265 MIM:601900
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
MUM1; LSIRF; SHEP8; NF-EM5
Summary
The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]
Expression
Broad expression in lymph node (RPKM 13.5), bone marrow (RPKM 12.6) and 14 other tissues See more
Orthologs

Genomic context

See IRF4 in Genome Data Viewer
Location:
6p25.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (391752..411443)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (391739..411443)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723922 Neighboring gene uncharacterized LOC107986553 Neighboring gene dual specificity phosphatase 22 Neighboring gene uncharacterized LOC105374875 Neighboring gene exocyst complex component 2 Neighboring gene HUS1 checkpoint clamp component B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
GeneReviews: Not available
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
GeneReviews: Not available
Genetic determinants of hair, eye and skin pigmentation in Europeans.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
GeneReviews: Not available
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Genome-wide association study of serum albumin:globulin ratio in Korean populations.
GeneReviews: Not available
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
GeneReviews: Not available
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available
Skin/hair/eye pigmentation, variation in, 8
MedGen: C2673265 OMIM: 611724 GeneReviews: Not available
Compare labs
Web-based, participant-driven studies yield novel genetic associations for common traits.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
T cell activation NAS
Non-traceable Author Statement
more info
PubMed 
T-helper 17 cell lineage commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response to protozoan ISS
Inferred from Sequence or Structural Similarity
more info
 
histone H3 acetylation IEA
Inferred from Electronic Annotation
more info
 
histone H4 acetylation IEA
Inferred from Electronic Annotation
more info
 
immune system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
myeloid dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of toll-like receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-13 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-2 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-4 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of T-helper cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nuclear nucleosome IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
interferon regulatory factor 4
Names
lymphocyte-specific interferon regulatory factor
multiple myeloma oncogene 1

NCBI Reference Sequences (RefSeq)

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

  1. NG_027728.1 RefSeqGene

    Range
    5014..24705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195286.2NP_001182215.1  interferon regulatory factor 4 isoform 2

    See identical proteins and their annotated locations for NP_001182215.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
    Source sequence(s)
    AL512308, AL589962, AW197089, BG230623, BM551611, KF458069, U52682, U63738
    UniProtKB/Swiss-Prot
    Q15306
    Conserved Domains (2) summary
    pfam00605
    Location:23128
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:249417
    IRF-3; Interferon-regulatory factor 3
  2. NM_002460.4NP_002451.2  interferon regulatory factor 4 isoform 1

    See identical proteins and their annotated locations for NP_002451.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL512308, AL589962, AW197089, BC015752, BG230623, BM551611, KF458069, U52682, U63738
    Consensus CDS
    CCDS4469.1
    UniProtKB/Swiss-Prot
    Q15306
    Related
    ENSP00000370343.4, ENST00000380956.9
    Conserved Domains (2) summary
    pfam00605
    Location:23128
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:250418
    IRF-3; Interferon-regulatory factor 3

RNA

  1. NR_046000.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 3' splice pattern, 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)
    AL512308, AL589962, AW197089, D78261, KF458069, U52682

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    391752..411443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715090.2XP_006715153.1  interferon regulatory factor 4 isoform X1

    See identical proteins and their annotated locations for XP_006715153.1

    Conserved Domains (2) summary
    pfam00605
    Location:23128
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:214382
    IRF-3; Interferon-regulatory factor 3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_036585.1: Suppressed sequence

    Description
    NR_036585.1: This RefSeq was permanently suppressed because currently there is support for the transcript.
Support Center