IRF4 (interferon regulatory factor 4)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3662 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Interferon regulatory factor 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
IRF4 |
SynonymsGene synonyms aliases
|
IMD131, LSIRF, MUM1, NF-EM5, SHEP8 |
ChromosomeChromosome number
|
6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6p25.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs12203592 |
C>T |
Affects |
Intron variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q15306 |
Protein name |
Interferon regulatory factor 4 (IRF-4) (Lymphocyte-specific interferon regulatory factor) (LSIRF) (Multiple myeloma oncogene 1) (NF-EM5) |
Protein function |
Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transducti |
PDB |
2DLL
,
6TD4
,
7JM4
,
7O56
,
7OGS
,
7OOT
,
7RH2
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00605 |
IRF |
23 → 128 |
Interferon regulatory factor transcription factor |
Domain |
PF10401 |
IRF-3 |
249 → 418 |
Interferon-regulatory factor 3 |
Family |
|
Sequence |
|
Sequence length |
451 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Asthma |
Asthma, Childhood asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
30929738, 30929738, 31036433 |
Basal cell neoplasm |
Basal Cell Neoplasm, Basal Cell Cancer |
rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 |
31174203, 27539887 |
Carcinoma |
Basal cell carcinoma, Squamous cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
31174203, 27539887, 26829030, 31174203 |
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 |
30595370 |
Lung adenocarcinoma |
Adenocarcinoma of lung (disorder) |
rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 |
28604730 |
Lymphoma |
Lymphoma, T-Cell, Cutaneous |
rs11540652, rs1592119138, rs1592123162, rs1599367044 |
26192916 |
Multiple myeloma |
Multiple Myeloma |
rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612 |
30213928, 18568025 |
Nasopharyngeal carcinoma |
Nasopharyngeal carcinoma |
rs200046052 |
20512145 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Alopecia |
Alopecia |
|
28196072 |
Alopecia, male pattern |
Alopecia, Male Pattern |
|
27182965, 29146897 |
Androgenetic alopecia |
Androgenetic Alopecia, Alopecia, Androgenetic, 3, Alopecia, Androgenetic, 2, Alopecia, Androgenetic, 1 |
|
27182965, 29146897, 29146897, 27182965 |
Celiac disease |
Celiac Disease |
rs2305764, rs35218876 |
22057235 |
Erectile dysfunction |
Erectile dysfunction |
|
22704111 |
Granulomatous slack skin |
Granulomatous Slack Skin |
|
26192916 |
Lymphocytic leukemia |
Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma |
|
24292274, 26956414, 18758461, 22700719, 23770605, 26956414, 24292274, 18758461, 23770605, 22700719 |
Melanosis |
Melanosis |
|
20585627, 30166351 |
Progressive supranuclear palsy |
Progressive supranuclear palsy |
|
21685912 |
Skin carcinoma |
Squamous cell carcinoma of skin, Skin carcinoma |
|
27424798, 23548203 |
T-cell lymphoma/leukemia |
Adult T-Cell Lymphoma/Leukemia |
|
26437031 |
Vitiligo |
Vitiligo |
|
27723757 |
|
|
|