I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| classical monocyte | 5 studies | 25% ± 6% | |
| non-classical monocyte | 3 studies | 21% ± 7% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| classical monocyte | 5 studies | 25% ± 6% | |
| non-classical monocyte | 3 studies | 21% ± 7% |
Insufficient scRNA-seq data for expression of MEFV at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| lung | 100% | 1221.56 | 578 / 578 | 35% | 0.76 | 408 / 1155 |
| bladder | 81% | 104.00 | 17 / 21 | 23% | 0.79 | 114 / 504 |
| kidney | 67% | 93.73 | 60 / 89 | 36% | 0.76 | 320 / 901 |
| spleen | 100% | 2257.54 | 241 / 241 | 0% | 0 | 0 / 0 |
| intestine | 72% | 95.96 | 691 / 966 | 23% | 0.52 | 122 / 527 |
| adrenal gland | 92% | 124.73 | 238 / 258 | 2% | 0.06 | 5 / 230 |
| adipose | 91% | 214.40 | 1098 / 1204 | 0% | 0 | 0 / 0 |
| liver | 84% | 115.50 | 190 / 226 | 4% | 0.06 | 16 / 406 |
| esophagus | 52% | 57.87 | 752 / 1445 | 34% | 1.15 | 63 / 183 |
| peripheral blood | 82% | 8487.66 | 758 / 929 | 0% | 0 | 0 / 0 |
| stomach | 46% | 67.94 | 165 / 359 | 35% | 0.78 | 100 / 286 |
| breast | 70% | 77.42 | 320 / 459 | 8% | 0.14 | 89 / 1118 |
| thymus | 75% | 95.33 | 487 / 653 | 2% | 0.03 | 12 / 605 |
| uterus | 47% | 49.44 | 80 / 170 | 21% | 0.45 | 98 / 459 |
| heart | 65% | 80.61 | 563 / 861 | 0% | 0 | 0 / 0 |
| prostate | 61% | 70.14 | 149 / 245 | 2% | 0.04 | 9 / 502 |
| blood vessel | 52% | 68.50 | 690 / 1335 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 41% | 2.25 | 12 / 29 |
| pancreas | 18% | 15.58 | 59 / 328 | 22% | 0.42 | 40 / 178 |
| tonsil | 0% | 0 | 0 / 0 | 38% | 0.81 | 17 / 45 |
| skin | 15% | 12.49 | 271 / 1809 | 17% | 0.30 | 78 / 472 |
| brain | 15% | 11.51 | 390 / 2642 | 10% | 0.19 | 71 / 705 |
| ovary | 18% | 17.81 | 33 / 180 | 6% | 0.09 | 27 / 430 |
| muscle | 13% | 9.01 | 108 / 803 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 3% | 0.03 | 2 / 80 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0016567 | Biological process | protein ubiquitination |
| GO_0010468 | Biological process | regulation of gene expression |
| GO_0002221 | Biological process | pattern recognition receptor signaling pathway |
| GO_0006954 | Biological process | inflammatory response |
| GO_0045087 | Biological process | innate immune response |
| GO_1900226 | Biological process | negative regulation of NLRP3 inflammasome complex assembly |
| GO_1904270 | Biological process | pyroptosome complex assembly |
| GO_0070269 | Biological process | pyroptotic inflammatory response |
| GO_1900016 | Biological process | negative regulation of cytokine production involved in inflammatory response |
| GO_0032695 | Biological process | negative regulation of interleukin-12 production |
| GO_0032691 | Biological process | negative regulation of interleukin-1 beta production |
| GO_0034341 | Biological process | response to type II interferon |
| GO_0032731 | Biological process | positive regulation of interleukin-1 beta production |
| GO_0050728 | Biological process | negative regulation of inflammatory response |
| GO_2001056 | Biological process | positive regulation of cysteine-type endopeptidase activity |
| GO_0010508 | Biological process | positive regulation of autophagy |
| GO_0032651 | Biological process | regulation of interleukin-1 beta production |
| GO_0050729 | Biological process | positive regulation of inflammatory response |
| GO_0071641 | Biological process | negative regulation of macrophage inflammatory protein 1 alpha production |
| GO_0001726 | Cellular component | ruffle |
| GO_0005874 | Cellular component | microtubule |
| GO_0031410 | Cellular component | cytoplasmic vesicle |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0005829 | Cellular component | cytosol |
| GO_0005776 | Cellular component | autophagosome |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0061702 | Cellular component | canonical inflammasome complex |
| GO_0030027 | Cellular component | lamellipodium |
| GO_0005875 | Cellular component | microtubule associated complex |
| GO_0005634 | Cellular component | nucleus |
| GO_0061630 | Molecular function | ubiquitin protein ligase activity |
| GO_0042802 | Molecular function | identical protein binding |
| GO_0008270 | Molecular function | zinc ion binding |
| GO_0005515 | Molecular function | protein binding |
| GO_0003779 | Molecular function | actin binding |
| Gene name | MEFV |
| Protein name | Pyrin/marenostrin variant del34-del78 MEFV innate immunity regulator, pyrin (Pyrin/marenostrin variant del2345) Mediterranean fever protein MEFV innate immunity regulator, pyrin (Pyrin/marenostrin variant del234) (Pyrin/marenostrin variant del234-del78) Pyrin (Marenostrin) MEFV innate immunity regulator, pyrin Pyrin variant Pyrin/marenostrin variant 2delta9ext |
| Synonyms | TRIM20 MEF |
| Description | FUNCTION: Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma . Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy . Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation . However, it can also have a positive effect in the inflammatory pathway, acting as an innate immune sensor that triggers PYCARD/ASC specks formation, caspase-1 activation, and IL1B and IL18 production . Together with AIM2, also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity). It is required for PSTPIP1-induced PYCARD/ASC oligomerization and inflammasome formation . Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization . . |
| Accessions | ENST00000539145.5 I3L0S7 F5GZV9 ENST00000574583.5 ENST00000537682.5 ENST00000542898.5 ENST00000570511.5 E3P8H6 F8W6Z2 ENST00000536379.5 [O15553-1] ENST00000536980.5 ENST00000538326.5 ENST00000541159.5 [O15553-3] ENST00000576315.5 ENST00000572244.5 F5H2E5 D2DTW1 F5H6N9 F5H595 A5JUN0 O15553 I4DSV7 ENST00000219596.6 [O15553-2] D2DTW2 ENST00000339854.8 E3P8H7 |
