Complete information for AR gene (Protein Coding), Androgen Receptor, including: function, proteins, disorders, pathways, orthologs, and expression. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. Hemochromatosis, Type 4, Pathogenic/Likely pathogenic: GeneCards Symbol: KIT 2; KIT Proto-Oncogene, Receptor Tyrosine Kinase 2 3 5; locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different) Genomic Neighborhood Exon Structure Gene Density. Reason: Erroneous gene model prediction {, The sequence EAL24400.1 differs from that shown. IL6RA_HUMAN,P08887 ), [Isoform 1]: Signaling via the membrane-bound IL6R is mostly regenerative and anti-inflammatory (Probable). The encoded protein may be involved in development of the placenta. Human Sir2-related protein SIRT1 associates with the bHLH repressors HES1 and HEY2 and is involved in HES1- and HEY2-mediated transcriptional repression. Exceptions to the rule of uppercase first letter and lowercase remaining letters in a gene or locus symbol: If the gene (locus) is only identified by a recessive mutant phenotype, then the symbol should begin with a lowercase letter. Signal activation necessitate an association with IL6ST. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and growth factor activity. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. CSF1_HUMAN,P09603 ). Phenotype-based relationships between genes and organs from Gene ORGANizer, 19.8% of all genes are more intolerant (likely to be disease-causing), 10.47% of all genes are more intolerant (likely to be disease-causing), Polymorphic Variants from UniProtKB/Swiss-Prot, UniProtKB/Swiss-Prot and Diseases associated with CLOCK include Delayed Sleep Phase Disorder and Narcolepsy. CRISPR Clones for HES1 - Starting at $85 >, VectorBuilder CRISPR vectors for HES1 (ie. viral and non-viral vectors), Virus packaging for SLC40A1 shRNA knockdown vectors (ie. In complex with IL6, is required for induction of VEGF production (PubMed:12794819). Diseases associated with IL6R include Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive and Interleukin 6, Serum Level Of, Quantitative Trait Locus.Among its related pathways are Autophagy pathway and RNA Polymerase I Promoter Opening.Gene Ontology (GO) annotations related to this gene 2011), Applied Biosystems by Thermo Fisher Scientific TaqMan Assays for CSF1, SNP Genotyping and Copy Number Assays for research, ATLAS of Genetics and Cytogenetics in Oncology and Haematology, Search disorders for CSF1 gene in PubMed and other databases, Search for latest publications for CSF1 gene in PubMed and other databases, 6 R&D Systems CSF1 (M-CSF) Proteins and Enzymes, 21 R&D Systems CSF1 (M-CSF) Primary Antibodies, 2 R&D Systems CSF1 (M-CSF) Simple Plex Assays, 3 R&D Systems CSF1 (M-CSF) Proteome Profiler Antibody Arrays, R&D Systems custom CSF1 antibody, protein, and immunoassay development services, High-throughput Antibody Production Service, Epitope Tag Antibodies & Reporter Protein Antibodies, Search Knockout (KO) Validated Antibodies, Find your next knockout model in the Taconic Knockout Repository, Genetically Engineered Models Available Immediately, shRNA knockdown vectors for CSF1 (ie. CLOCK CRISPR sgRNA+Cas9 as ready-to-use knockout vector or virus: Synthego CRISPR Products for CLOCK: DIY CRISPR Kits: A. gosspyii yeast (Eremothecium gossypii), Actinobacteria (Mycobacterium tuberculosis), African malaria mosquito (Anopheles gambiae), Alpha proteobacteria (Wolbachia pipientis), Beta proteobacteria (Neisseria meningitidis), Firmicute Bacteria (Streptococcus pneumoniae), Fission Yeast (Schizosaccharomyces pombe), Schistosome Parasite (Schistosoma mansoni), Sea Urchin (Strongylocentrotus purpuratus), Delayed Sleep Phase Syndrome, Susceptibility To, Delayed Sleep Phase Disorder, Susceptibility To, Sleep Phase Syndrome, Delayed, Susceptibility To, Major Depressive Disorder, Response To Citalopram Therapy In, Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment, Seasonal Affective Disorder, Susceptibility To, Major Depressive Disorder With A Seasonal Pattern. knockout, knockin, CRISPRa, CRISPRi), VectorBuilder Virus packaging for HES1 CRISPR vectors (ie. Hair follicles (at protein level). If a mouse gene model is available from NCBI or ENSEMBL, a Gm (gene model) symbol is used. A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Tocris Summary , Autosomal dominant; Autosomal dominant form; Autosomal dominant type, Abnormality of the reproductive system; Genital abnormalities; Genital abnormality; Genital anomalies; Genital defects, Abnormality of reproductive system physiology. Gene Ontology (GO) annotations related to this gene include growth factor activity and integrin binding. The CLOCK-ARNTL/BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. New feature: You can now include the symbol description! Drives the circadian rhythm of blood pressure through transcriptional activation of ATP1B1 (By similarity). gene symbol ensembl_idgene symbol Alternative splicing results in multiple transcript variants. GENATLAS. 2004), Applied Biosystems by Thermo Fisher Scientific TaqMan Assays for HES1, SNP Genotyping and Copy Number Assays for research, ATLAS of Genetics and Cytogenetics in Oncology and Haematology, Search disorders for HES1 gene in PubMed and other databases, Search for latest publications for HES1 gene in PubMed and other databases, 2 R&D Systems HES1 (HES-1) Primary Antibodies, R&D Systems custom HES1 antibody, protein, and immunoassay development services, High-throughput Antibody Production Service, Epitope Tag Antibodies & Reporter Protein Antibodies, Search Knockout (KO) Validated Antibodies, Find your next knockout model in the Taconic Knockout Repository, Genetically Engineered Models Available Immediately, shRNA knockdown vectors for HES1 (ie. NAMPT CRISPR sgRNA+Cas9 as ready-to-use knockout vector or virus: Synthego CRISPR Products for NAMPT: DIY CRISPR Kits: 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-D-ribofuranosyl)pyridinium, 3-(Aminocarbonyl)-1-(5-O-phosphono--D-ribofuranosyl)pyridinium, A. gosspyii yeast (Eremothecium gossypii), Actinobacteria (Mycobacterium tuberculosis), African malaria mosquito (Anopheles gambiae), Alpha proteobacteria (Wolbachia pipientis), Beta proteobacteria (Neisseria meningitidis), Firmicute Bacteria (Streptococcus pneumoniae), Fission Yeast (Schizosaccharomyces pombe), Schistosome Parasite (Schistosoma mansoni), Sea Urchin (Strongylocentrotus purpuratus), Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium, Polycystic Ovary Syndrome, Susceptibility To, Diabetes Mellitus, Noninsulin-Dependent, Association With, Diabetes Mellitus, Noninsulin-Dependent, Late Onset, Hypertension, Insulin Resistance-Related, Susceptibility To, Type 2 Diabetes Mellitus, Susceptibility To, Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To, Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To, Diabetes Mellitus, Type 2, Susceptibility To, Diabetes Mellitus, Noninsulin-Dependent, 2, Diabetes Mellitus, Type Ii, Susceptibility To, Diabetes Mellitus Type 2, Susceptibility To, Niddm - [Non Insulin Dependent Diabetes Mellitus], Non-Insulin-Dependent Diabetes Mellitus Without Complications, Diabetes Mellitus Due To Insulin Secretory Defect, Non-Insulin-Dependent Diabetes Of The Young. RefSeq DNA sequence for KIT Gene. lentivirus, AAV, adenovirus), Virus packaging for CLOCK (ie. Diseases associated with LTB include Synovitis and Type 1 Diabetes Mellitus 2.Among its related pathways are TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions and OX40 Pathway.Gene Ontology (GO) annotations related to this gene include signaling receptor binding and tumor MDM2 (MDM2 Proto-Oncogene) is a Protein Coding gene. Transcription Factor Targeted Genes and al. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. Ensembl, locations according to GeneLoc This gene was present in the common ancestor of chordates. 2012), Primordial germ cell-like cells(Hayashi K et. Complete information for MECP2 gene (Protein Coding), Methyl-CpG Binding Protein 2, including: function, proteins, disorders, pathways, orthologs, and expression. JUN (Jun Proto-Oncogene, AP-1 Transcription Factor Subunit) is a Protein Coding gene. The encoded protein may be involved in development of the placenta. Mouse ENSEMBL Gene ID to Gene Symbol Converter This tool converts Mouse (Mus musculus) ENSEMBL Gene IDs to Gene Symbols from the mm10 Mouse ENSEMBL release. Copyright 1996-2022 , Weizmann Institute of Science. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. New feature: You can now include the symbol description! [provided by RefSeq, Sep 2011]. lentivirus, AAV, adenovirus), VectorBuilder Virus packaging for HES1 (ie. API Instructions Paste in your list of human ENSEMBL Gene IDs and convert! GeneCards Symbol: CFTR 2; CF Transmembrane Conductance Regulator 2 3 5; DJ760C5.1 2 3 5; TNR-CFTR 2 3 5; CFTR/MRP locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different) Genomic Neighborhood Exon Structure Gene Density. mRNA differential expression in normal tissues , ENSEMBL Gene ID to Gene Symbol Converter This tool converts ENSEMBL Gene IDs to Gene Symbols from the latest ENSEMBL release. Among its related pathways are Cell Cycle, Mitotic and PI3K-Akt signaling pathway. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. Belongs to the ferroportin (FP) (TC 2.A.100) family. If a mouse gene model is available from NCBI or ENSEMBL, a Gm (gene model) symbol is used. Complete information for ESR1 gene (Protein Coding), Estrogen Receptor 1, including: function, proteins, disorders, pathways, orthologs, and expression. Rfam classification and Sep 23, 2022. full commentary. NCBI Functional elements and When iron is in excess, hepcidin/HAMP levels increase resulting in a degradation of ferroportin/SLC40A1 limiting the iron efflux to plasma (PubMed:22682227, 29237594, 32814342). Component of the circadian clock oscillator which includes the CRY proteins, CLOCK or NPAS2, ARNTL/BMAL1 or ARNTL2/BMAL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins (By similarity). CCDS data is available in the CCDS web site and FTP site and will become available in the collaborators' genome and/or gene browser web sites according to each browser's update cycle. PharmGKB Summary , Complete information for ESR1 gene (Protein Coding), Estrogen Receptor 1, including: function, proteins, disorders, pathways, orthologs, and expression. Diseases associated with HES1 include Medulloblastoma and Precursor T-Cell Acute Lymphoblastic Leukemia.Among its related pathways are Disease and Overlap between signal transduction pathways contributing to LMNA laminopathies.Gene Ontology (GO) annotations related to this viral and non-viral vectors), Virus packaging for HES1 shRNA knockdown vectors (ie. Phenotype-based relationships between genes and organs from Gene ORGANizer, 21.6% of all genes are more intolerant (likely to be disease-causing), 70.29% of all genes are more intolerant (likely to be disease-causing), Polymorphic Variants from UniProtKB/Swiss-Prot, UniProtKB/Swiss-Prot and