Fine module 134 - immunomodulatory


Model's activators:
SymbolAssignmentTitlemin expressionmax expressionmean weightmin weightmax weightNCBI human gene summary
TCFE3C24 F120transcription factor E35.7810.080.107920.107920.10792Summary: The microphthalmia transcription factor/transcription factor E (MITF-TFE) family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors includes four family members: MITF, TFE3, TFEB and TFEC. The TEF3 protein encoded by this gene activates transcription through binding to the muE3 motif of the immunoglobulin heavy-chain enhancer. The TFEC protein forms heterodimers with the TEF3 protein and inhibits TFE3-dependent transcription activation. The TEF3 protein interacts with transcription regulators such as E2F3, SMAD3, and LEF-1, and is involved in TGF-beta-induced transcription, playing important roles in cell growth, proliferation, and osteoclast and macrophage differentiation. The TFE3 protein also activates hepatic IRS-2 gene, and induces hexokinase II (HK2) and insulin-induced gene 1 (INSIG1); it participates in insulin signaling and could be a therapeutic target for diabetes. This gene is also involved in chromosomal translocations, resulting in different fusion gene products in papillary renal cell carcinomas and alveolar soft part sarcomas, such as PRCC-TFE3, RCC17-TFE3, PSF-TFE3, NonO (p54nrb)-TFE3 and ASPL-TFE3.
BACH1C24 F122BTB and CNC homology 16.7111.140.0977150.0498150.12965
HLXC24 F120H2.0-like homeobox5.1510.640.0937930.0937930.093793
TRPS1C45 F232trichorhinophalangeal syndrome I (human)5.2611.130.0886180.0498880.11444Summary: This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq].
CREG1C29 F163cellular repressor of E1A-stimulated genes 14.9111.470.0878980.0878980.087898
SFPI1C25 F142SFFV proviral integration 14.6012.740.0773130.0773130.077313
IRF5C25 F135interferon regulatory factor 56.0311.710.0616680.0616680.061668Summary: This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Multiple transcript variants encoding different isoforms have been found for this gene, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq].
CIITAC25 F136class II transactivator5.3911.430.053311-0.000897480.058599Summary: This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the 'master control factor' for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. [provided by RefSeq].
ATF6C25 F137activating transcription factor 65.7910.720.0279980.0279980.027998
FOSL2C53 F282fos-like antigen 25.7111.760.02510100.069816
VDRC58 F296vitamin D receptor4.689.740.003919400.088186Summary: This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq].
KLF4C24 F120Kruppel-like factor 4 (gut)5.5311.840.0006275200.0010459
Model's repressors:
SymbolAssignmentTitlemin expressionmax expressionmean weightmin weightmax weightNCBI human gene summary
MLLT3C18 F93myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 35.2810.57-0.070976-0.070976-0.070976
GATA3C18 F93GATA binding protein 34.9912.30-0.035539-0.035539-0.035539Summary: This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq].
AOF1C34 F185lysine (K)-specific demethylase 1B6.2010.07-0.0020713-0.0932090