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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- ER-Phagosome pathway
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIP-mediated NFkB activation via ZBP1
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- SUMOylation of immune response proteins
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- IKBKB deficiency causes SCID
- IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
- IkBA variant leads to EDA-ID
- CLEC7A (Dectin-1) signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
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- Ectodermal dysplasia associated immunodeficiency (EDA-ID), including the following two diseases: NF-kappa-B essential modulator (NEMO) defect; Inhibitor of kappa-B (I-kappa-B) defect
- Incontinentia pigmenti
- Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID); Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
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KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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KANSL2 |
KAT8 regulatory NSL complex subunit 2 |
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KMT2A |
lysine methyltransferase 2A |
- PKMTs methylate histone lysines
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Transcriptional regulation of granulopoiesis
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- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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MARF1 |
meiosis regulator and mRNA stability factor 1 |
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MBIP |
MAP3K12 binding inhibitory protein 1 |
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MDM4 |
MDM4 regulator of p53 |
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- Ub-specific processing proteases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- Stabilization of p53
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MEOX2 |
mesenchyme homeobox 2 |
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MLLT1 |
MLLT1 super elongation complex subunit |
- Formation of RNA Pol II elongation complex
- RNA Polymerase II Pre-transcription Events
- RNA Polymerase II Transcription Elongation
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- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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NR2E3 |
nuclear receptor subfamily 2 group E member 3 |
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- Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
- Retinitis pigmentosa (RP)
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PDE9A |
phosphodiesterase 9A |
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- Caffeine
- gamma-Glutamyl[S-(2-iodobenzyl)cysteinyl]glycine
- 3-isobutyl-1-methyl-7H-xanthine
- Trapidil
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POU5F1 |
POU class 5 homeobox 1 |
- POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Transcriptional regulation of pluripotent stem cells
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PRMT5 |
protein arginine methyltransferase 5 |
- snRNP Assembly
- RMTs methylate histone arginines
- Regulation of TP53 Activity through Methylation
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PRNP |
prion protein |
- NCAM1 interactions
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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- Prion diseases; Creutzfeldt-Jacob disease (CJD); Gerstmann-Straussler disease (GSD); Gerstmann-Straussler-Scheinker disease (GSSD); Fatal familial insomnia (FFI)
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RBBP5 |
RB binding protein 5, histone lysine methyltransferase complex subunit |
- Formation of the beta-catenin:TCF transactivating complex
- PKMTs methylate histone lysines
- Deactivation of the beta-catenin transactivating complex
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- Neddylation
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RUSC1-AS1 |
RUSC1 antisense RNA 1 |
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SRPK2 |
SRSF protein kinase 2 |
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- Adenine
- Purvalanol
- Phosphoaminophosphonic Acid-Adenylate Ester
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SRRM4 |
serine/arginine repetitive matrix 4 |
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SSX2IP |
SSX family member 2 interacting protein |
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TERF2IP |
TERF2 interacting protein |
- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Telomere Extension By Telomerase
- Polymerase switching on the C-strand of the telomere
- Processive synthesis on the C-strand of the telomere
- Telomere C-strand (Lagging Strand) Synthesis
- Telomere C-strand synthesis initiation
- Removal of the Flap Intermediate from the C-strand
- DNA Damage/Telomere Stress Induced Senescence
- Inhibition of DNA recombination at telomere
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