cell division cycle 40 homolog (S. cerevisiae); Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

cell division cycle 40 homolog (S. cerevisiae); Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing

PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae); Plays a role in DNA double-strand break (DSB) repair. Binds double-stranded DNA in a sequence-nonspecific manner. Acts as a structural component of the nuclear framework. May also serve as a support for spliceosome binding and activity. Essential for spliceosome assembly in a oligomerization-dependent manner and might also be important for spliceosome stability. May have E3 ubiquitin ligase activity. The PSO4 complex is required in the DNA interstrand cross-links (ICLs) repair process. Component of the PRP19-CDC5L comple [...]

cell division cycle 40 homolog (S. cerevisiae); Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing

translocated promoter region, nuclear basket protein; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalization in interphase, and in the mitotic spindle checkpoint signaling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates t [...]

cell division cycle 40 homolog (S. cerevisiae); Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing

XPA binding protein 2; Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

cell division cycle 40 homolog (S. cerevisiae); Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

dishevelled, dsh homolog 1 (Drosophila); Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ)

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

dishevelled, dsh homolog 2 (Drosophila); Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes (By similarity)

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

epidermal growth factor receptor pathway substrate 8; Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac- specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and ac [...]

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

EPS8-like 2; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

GTP binding protein 1; Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity)

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

GTP binding protein 2

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

lysosomal trafficking regulator; May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

mitogen-activated protein kinase 1; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...]

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

mitogen-activated protein kinase 11; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK11 functions are mostly redundant with those of MA [...]

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

mitogen-activated protein kinase 12; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstre [...]

DiGeorge syndrome critical region gene 14; May be involved in pre-mRNA splicing

mitogen-activated protein kinase 13; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studie [...]