MIF
macrophage migration inhibitory factor
Basic information
Region (hg38): 22:23894383-23895227
Previous symbols: [ "GLIF" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIF gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 2 | 2 | ||||
| non coding | 1 | |||||
| Total | 0 | 0 | 8 | 2 | 1 |
Variants in MIF
This is a list of pathogenic ClinVar variants found in the MIF region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 22-23894479-C-G | Uncertain significance (Jun 01, 2023) | |||
| 22-23894557-C-T | not specified | Uncertain significance (Aug 16, 2022) | ||
| 22-23894574-C-A | not specified | Uncertain significance (Dec 27, 2022) | ||
| 22-23894805-A-G | not specified | Uncertain significance (Apr 18, 2023) | ||
| 22-23894835-G-A | Uncertain significance (Feb 28, 2018) | |||
| 22-23894858-C-G | not specified | Uncertain significance (Jul 25, 2023) | ||
| 22-23894867-C-A | MIF-related disorder | Likely benign (Apr 08, 2019) | ||
| 22-23894883-C-G | not specified | Uncertain significance (Oct 05, 2023) | ||
| 22-23894884-G-T | not specified | Uncertain significance (May 03, 2023) | ||
| 22-23894887-C-T | MIF-related disorder | Likely benign (Feb 03, 2022) | ||
| 22-23895031-C-T | Benign (Aug 08, 2018) | |||
| 22-23895033-C-A | Benign (Aug 16, 2018) | |||
| 22-23895034-C-G | MIF-related disorder | Benign (Oct 18, 2019) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MIF | protein_coding | protein_coding | ENST00000215754 | 3 | 1224 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0123 | 0.664 | 124687 | 0 | 5 | 124692 | 0.0000200 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.399 | 75 | 65.9 | 1.14 | 0.00000296 | 723 |
| Missense in Polyphen | 24 | 16.679 | 1.439 | 235 | ||
| Synonymous | -0.861 | 37 | 30.9 | 1.20 | 0.00000147 | 225 |
| Loss of Function | 0.506 | 3 | 4.11 | 0.731 | 1.76e-7 | 44 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000544 | 0.0000445 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Pro-inflammatory cytokine. Involved in the innate immune response to bacterial pathogens. The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense. Counteracts the anti- inflammatory activity of glucocorticoids. Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known. It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity. {ECO:0000269|PubMed:15908412, ECO:0000269|PubMed:17443469, ECO:0000269|PubMed:23776208}.;
- Disease
- DISEASE: Rheumatoid arthritis systemic juvenile (RASJ) [MIM:604302]: An inflammatory articular disorder with systemic- onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis. {ECO:0000269|PubMed:11508429}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. {ECO:0000305}.;
- Pathway
- Phenylalanine metabolism - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Tyrosinemia, transient, of the newborn;Dopamine beta-hydroxylase deficiency;Disulfiram Action Pathway;Tyrosine Metabolism;Alkaptonuria;Monoamine oxidase-a deficiency (MAO-A);Hawkinsinuria;Tyrosinemia Type I;Adipogenesis;Spinal Cord Injury;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;Neutrophil degranulation;Tyrosine metabolism;Innate Immune System;Immune System;Cell surface interactions at the vascular wall;Hemostasis
(Consensus)
Recessive Scores
- pRec
- 0.375
Haploinsufficiency Scores
- pHI
- 0.186
- hipred
- Y
- hipred_score
- 0.804
- ghis
- 0.487
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.996
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mif
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; immune system phenotype; neoplasm; hematopoietic system phenotype; normal phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Zebrafish Information Network
- Gene name
- mif
- Affected structure
- retinal bipolar neuron
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- prostaglandin biosynthetic process;negative regulation of mature B cell apoptotic process;inflammatory response;cell surface receptor signaling pathway;cell aging;cell population proliferation;regulation of signaling receptor activity;negative regulation of gene expression;positive regulation of protein kinase A signaling;negative regulation of macrophage chemotaxis;carboxylic acid metabolic process;DNA damage response, signal transduction by p53 class mediator;positive regulation of B cell proliferation;positive regulation of lipopolysaccharide-mediated signaling pathway;negative regulation of cellular protein metabolic process;positive regulation of tumor necrosis factor production;negative regulation of myeloid cell apoptotic process;positive regulation of peptidyl-serine phosphorylation;interleukin-12-mediated signaling pathway;positive regulation of phosphorylation;regulation of macrophage activation;negative regulation of apoptotic process;neutrophil degranulation;positive regulation of MAP kinase activity;negative regulation of DNA damage response, signal transduction by p53 class mediator;innate immune response;positive regulation of fibroblast proliferation;positive regulation of cytokine secretion;positive regulation of peptidyl-tyrosine phosphorylation;leukocyte migration;positive chemotaxis;positive regulation of prostaglandin secretion involved in immune response;positive regulation of myeloid leukocyte cytokine production involved in immune response;protein homotrimerization;positive regulation of ERK1 and ERK2 cascade;negative regulation of cell cycle arrest;positive regulation of arachidonic acid secretion;negative regulation of cell aging;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;positive regulation of chemokine (C-X-C motif) ligand 2 production
- Cellular component
- extracellular region;extracellular space;nucleoplasm;cytosol;cell surface;vesicle;secretory granule lumen;myelin sheath;extracellular exosome;ficolin-1-rich granule lumen
- Molecular function
- protease binding;dopachrome isomerase activity;signaling receptor binding;cytokine activity;cytokine receptor binding;protein binding;chemoattractant activity;identical protein binding;phenylpyruvate tautomerase activity