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ASH2L |
ASH2 like, 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
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ATR |
ATR serine/threonine kinase |
- Meiotic synapsis
- Activation of ATR in response to replication stress
- Regulation of HSF1-mediated heat shock response
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
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- Alveolar rhabdomyosarcoma
- Seckel syndrome
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ATRX |
ATRX chromatin remodeler |
- Inhibition of DNA recombination at telomere
- Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
- Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
- Non-syndromic X-linked mental retardation
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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ATXN3 |
ataxin 3 |
- Josephin domain DUBs
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
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- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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BAG5 |
BAG cochaperone 5 |
- Regulation of HSF1-mediated heat shock response
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BAG6 |
BAG cochaperone 6 |
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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BAIAP2L1 |
BAR/IMD domain containing adaptor protein 2 like 1 |
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BAK1 |
BCL2 antagonist/killer 1 |
- Activation and oligomerization of BAK protein
- Release of apoptotic factors from the mitochondria
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BANP |
BTG3 associated nuclear protein |
- Regulation of TP53 Activity through Association with Co-factors
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BARD1 |
BRCA1 associated RING domain 1 |
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- UCH proteinases
- Metalloprotease DUBs
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
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BAX |
BCL2 associated X, apoptosis regulator |
- Release of apoptotic factors from the mitochondria
- Activation, translocation and oligomerization of BAX
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Transcriptional regulation by RUNX2
- NTRK3 as a dependence receptor
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BCCIP |
BRCA2 and CDKN1A interacting protein |
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BCL2L12 |
BCL2 like 12 |
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BCL6 |
BCL6 transcription repressor |
- Interleukin-4 and Interleukin-13 signaling
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- FOXO-mediated transcription of cell death genes
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BLM |
BLM RecQ like helicase |
- Processive synthesis on the C-strand of the telomere
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Meiotic recombination
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- DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
- Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome
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BMP1 |
bone morphogenetic protein 1 |
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Collagen biosynthesis and modifying enzymes
- Anchoring fibril formation
- Crosslinking of collagen fibrils
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BRCA1 |
BRCA1 DNA repair associated |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Metalloprotease DUBs
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
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- Breast cancer
- Ovarian cancer
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BRCA2 |
BRCA2 DNA repair associated |
- HDR through Homologous Recombination (HRR)
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Homologous DNA Pairing and Strand Exchange
- Presynaptic phase of homologous DNA pairing and strand exchange
- Meiotic recombination
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- Fanconi anemia
- Pancreatic cancer
- Breast cancer
- Ovarian cancer
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BRF1 |
BRF1 RNA polymerase III transcription initiation factor subunit |
- RNA Polymerase III Abortive And Retractive Initiation
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
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BTBD2 |
BTB domain containing 2 |
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