|
SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
- Interleukin-7 signaling
- Formation of the beta-catenin:TCF transactivating complex
- RMTs methylate histone arginines
- Chromatin modifying enzymes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- Negative Regulation of CDH1 Gene Transcription
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Formation of the canonical BAF (cBAF) complex
- Formation of the polybromo-BAF (pBAF) complex
- Formation of the embryonic stem cell BAF (esBAF) complex
- Formation of the non-canonical BAF (ncBAF) complex
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
|
|
|
|
SS18L2 |
SS18 like 2 |
|
|
|
|
SUMO2 |
small ubiquitin like modifier 2 |
- Vitamin D (calciferol) metabolism
- SUMO is conjugated to E1 (UBA2:SAE1)
- SUMO is transferred from E1 to E2 (UBE2I, UBC9)
- SUMO is proteolytically processed
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription factors
- SUMOylation of transcription cofactors
- SUMOylation of SUMOylation proteins
- SUMOylation of intracellular receptors
- SUMOylation of intracellular receptors
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA replication proteins
- Processing of DNA double-strand break ends
- Formation of Incision Complex in GG-NER
- Regulation of endogenous retroelements by KRAB-ZFP proteins
|
|
|
|
TMIE |
transmembrane inner ear |
- Sensory processing of sound by inner hair cells of the cochlea
- Sensory processing of sound by outer hair cells of the cochlea
|
|
- Deafness, autosomal recessive
|
|
UBE3A |
ubiquitin protein ligase E3A |
- Antigen processing: Ubiquitination & Proteasome degradation
|
|
- Prader-Willi and Angelman syndromes, including: Angelman syndrome (AS); Prader-Willi syndrome (PWS)
|
|
USP7 |
ubiquitin specific peptidase 7 |
- Ub-specific processing proteases
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- Regulation of TP53 Degradation
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- Regulation of PTEN localization
|
|
|
|
ZDHHC17 |
zDHHC palmitoyltransferase 17 |
|
|
|
|
ZNF512B |
zinc finger protein 512B |
|
|
|