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SEC61B |
SEC61 translocon subunit beta |
- ER-Phagosome pathway
- SRP-dependent cotranslational protein targeting to membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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SERTAD1 |
SERTA domain containing 1 |
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SIX2 |
SIX homeobox 2 |
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SLC4A1 |
solute carrier family 4 member 1 (Diego blood group) |
- Erythrocytes take up carbon dioxide and release oxygen
- Erythrocytes take up oxygen and release carbon dioxide
- Bicarbonate transporters
- Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
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- Hereditary elliptocytosis (HE)
- Hereditary spherocytosis (SPH)
- Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP)
- Distal renal tubular acidosis (RTA type 1)
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SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 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
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
- SLBP independent Processing of Histone Pre-mRNAs
- snRNP Assembly
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- RNA Polymerase II Transcription Termination
- SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
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SOX3 |
SRY-box transcription factor 3 |
- Deactivation of the beta-catenin transactivating complex
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- Septo-optic dysplasia
- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
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SOX4 |
SRY-box transcription factor 4 |
- Deactivation of the beta-catenin transactivating complex
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STK11 |
serine/threonine kinase 11 |
- AMPK inhibits chREBP transcriptional activation activity
- Energy dependent regulation of mTOR by LKB1-AMPK
- Regulation of TP53 Activity through Phosphorylation
- FOXO-mediated transcription of cell death genes
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- Peutz-Jeghers syndrome
- Pancreatic cancer
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TBRG1 |
transforming growth factor beta regulator 1 |
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TDRD7 |
tudor domain containing 7 |
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TEAD2 |
TEA domain transcription factor 2 |
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- RUNX3 regulates YAP1-mediated transcription
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TFDP1 |
transcription factor Dp-1 |
- Activation of NOXA and translocation to mitochondria
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- Transcription of E2F targets under negative control by DREAM complex
- Transcription of E2F targets under negative control by DREAM complex
- Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
- Activation of PUMA and translocation to mitochondria
- G0 and Early G1
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Cyclin E associated events during G1/S transition
- G1/S-Specific Transcription
- G1/S-Specific Transcription
- Cyclin D associated events in G1
- Cyclin A:Cdk2-associated events at S phase entry
- Transcriptional Regulation by E2F6
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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TMEFF1 |
transmembrane protein with EGF like and two follistatin like domains 1 |
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TMOD1 |
tropomodulin 1 |
- Striated Muscle Contraction
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TP63 |
tumor protein p63 |
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Metabolic Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- Regulation of TP53 Activity through Association with Co-factors
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- Limb-mammary syndrome
- ADULT syndrome
- Split-hand/foot malformation (SHFM)
- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome)
- Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
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TRIM28 |
tripartite motif containing 28 |
- Generic Transcription Pathway
- SUMOylation of transcription cofactors
- HCMV Early Events
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TRIP12 |
thyroid hormone receptor interactor 12 |
- Antigen processing: Ubiquitination & Proteasome degradation
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TSC1 |
TSC complex subunit 1 |
- Macroautophagy
- Inhibition of TSC complex formation by PKB
- Energy dependent regulation of mTOR by LKB1-AMPK
- TP53 Regulates Metabolic Genes
- TBC/RABGAPs
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- Lymphangioleiomyomatosis (LAM)
- Tuberous sclerosis complex (TSC); Bourneville-Pringle disease
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UBE2A |
ubiquitin conjugating enzyme E2 A |
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- E3 ubiquitin ligases ubiquitinate target proteins
- Antigen processing: Ubiquitination & Proteasome degradation
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