psui3905/ncbi_genes_summary huggingface dataset:
CXCL11, Official Symbol CXCL11provided by HGNC Official Full Name C-X-C motif chemokine ligand 11provided by HGNC Primary source HGNC:HGNC:10638 See related Ensembl:ENSG00000169248 MIM:604852; AllianceGenome:HGNC:10638 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IP9; H174; IP-9; b-R1; I-TAC; SCYB11; SCYB9B Summary Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] Expression Broad expression in appendix (RPKM 6.2), lymph node (RPKM 5.0) and 21 other tissues See more Orthologs all
CXCL12, Official Symbol CXCL12provided by HGNC Official Full Name C-X-C motif chemokine ligand 12provided by HGNC Primary source HGNC:HGNC:10672 See related Ensembl:ENSG00000107562 MIM:600835; AllianceGenome:HGNC:10672 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRH; PBSF; SDF1; TLSF; TPAR1; SCYB12 Summary This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] Expression Broad expression in endometrium (RPKM 50.4), spleen (RPKM 44.2) and 23 other tissues See more Orthologs mouse all
CXCL13, Official Symbol CXCL13provided by HGNC Official Full Name C-X-C motif chemokine ligand 13provided by HGNC Primary source HGNC:HGNC:10639 See related Ensembl:ENSG00000156234 MIM:605149; AllianceGenome:HGNC:10639 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BLC; BCA1; ANGIE; BCA-1; BLR1L; ANGIE2; SCYB13 Summary B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014] Expression Biased expression in lymph node (RPKM 245.2), spleen (RPKM 177.4) and 3 other tissues See more Orthologs mouse all
CXCL14, Official Symbol CXCL14provided by HGNC Official Full Name C-X-C motif chemokine ligand 14provided by HGNC Primary source HGNC:HGNC:10640 See related Ensembl:ENSG00000145824 MIM:604186; AllianceGenome:HGNC:10640 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KEC; KS1; BMAC; BRAK; NJAC; MIP2G; MIP-2g; SCYB14 Summary This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014] Expression Biased expression in skin (RPKM 295.1), kidney (RPKM 161.0) and 13 other tissues See more Orthologs mouse all
CXCL16, Official Symbol CXCL16provided by HGNC Official Full Name C-X-C motif chemokine ligand 16provided by HGNC Primary source HGNC:HGNC:16642 See related Ensembl:ENSG00000161921 MIM:605398; AllianceGenome:HGNC:16642 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SRPSOX; CXCLG16; SR-PSOX Summary Enables chemokine activity. Involved in several processes, including positive regulation of cell growth; response to interferon-gamma; and response to tumor necrosis factor. Located in extracellular space. Biomarker of COVID-19 and systemic scleroderma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 40.7), testis (RPKM 23.8) and 24 other tissues See more Orthologs mouse all
CXCL17, Official Symbol CXCL17provided by HGNC Official Full Name C-X-C motif chemokine ligand 17provided by HGNC Primary source HGNC:HGNC:19232 See related Ensembl:ENSG00000189377 MIM:611387; AllianceGenome:HGNC:19232 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DMC; VCC1; Dcip1; VCC-1; UNQ473 Summary The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015] Expression Biased expression in stomach (RPKM 182.1), lung (RPKM 72.2) and 3 other tissues See more Orthologs mouse all
CXCL2, Official Symbol CXCL2provided by HGNC Official Full Name C-X-C motif chemokine ligand 2provided by HGNC Primary source HGNC:HGNC:4603 See related Ensembl:ENSG00000081041 MIM:139110; AllianceGenome:HGNC:4603 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GRO2; GROb; MIP2; MIP2A; SCYB2; MGSA-b; MIP-2a; CINC-2a Summary This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Broad expression in liver (RPKM 52.2), gall bladder (RPKM 27.8) and 15 other tissues See more Orthologs all
CXCL3, Official Symbol CXCL3provided by HGNC Official Full Name C-X-C motif chemokine ligand 3provided by HGNC Primary source HGNC:HGNC:4604 See related Ensembl:ENSG00000163734 MIM:139111; AllianceGenome:HGNC:4604 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GRO3; GROg; MIP2B; SCYB3; MIP-2b; CINC-2b Summary This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Biased expression in appendix (RPKM 8.6), bone marrow (RPKM 6.3) and 12 other tissues See more Orthologs all
CXCL5, Official Symbol CXCL5provided by HGNC Official Full Name C-X-C motif chemokine ligand 5provided by HGNC Primary source HGNC:HGNC:10642 See related Ensembl:ENSG00000163735 MIM:600324; AllianceGenome:HGNC:10642 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCYB5; ENA-78 Summary This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [provided by RefSeq, May 2013] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Biased expression in appendix (RPKM 23.4), urinary bladder (RPKM 8.7) and 5 other tissues See more Orthologs all
CXCL6, Official Symbol CXCL6provided by HGNC Official Full Name C-X-C motif chemokine ligand 6provided by HGNC Primary source HGNC:HGNC:10643 See related Ensembl:ENSG00000124875 MIM:138965; AllianceGenome:HGNC:10643 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GCP2; CKA-3; GCP-2; SCYB6 Summary The protein encoded by this gene is a member CXC chemokine family. The encoded protein is a chemotactic for neutrophil granulocytes and has antibacterial action against gram-negative and gram-positive bacteria. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Jun 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Biased expression in spleen (RPKM 44.2), gall bladder (RPKM 20.7) and 4 other tissues See more Orthologs all
CXCL8, Official Symbol CXCL8provided by HGNC Official Full Name C-X-C motif chemokine ligand 8provided by HGNC Primary source HGNC:HGNC:6025 See related Ensembl:ENSG00000169429 MIM:146930; AllianceGenome:HGNC:6025 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IL8; NAF; GCP1; LECT; LUCT; NAP1; GCP-1; LYNAP; MDNCF; MONAP; NAP-1; SCYB8 Summary The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is commonly referred to as interleukin-8 (IL-8). IL-8 is secreted by mononuclear macrophages, neutrophils, eosinophils, T lymphocytes, epithelial cells, and fibroblasts. It functions as a chemotactic factor by guiding the neutrophils to the site of infection. Bacterial and viral products rapidly induce IL-8 expression. IL-8 also participates with other cytokines in the proinflammatory signaling cascade and plays a role in systemic inflammatory response syndrome (SIRS). This gene is believed to play a role in the pathogenesis of the lower respiratory tract infection bronchiolitis, a common respiratory tract disease caused by the respiratory syncytial virus (RSV). The overproduction of this proinflammatory protein is thought to cause the lung inflammation associated with csytic fibrosis. This proinflammatory protein is also suspected of playing a role in coronary artery disease and endothelial dysfunction. This protein is also secreted by tumor cells and promotes tumor migration, invasion, angiogenesis and metastasis. This chemokine is also a potent angiogenic factor. The binding of IL-8 to one of its receptors (IL-8RB/CXCR2) increases the permeability of blood vessels and increasing levels of IL-8 are positively correlated with increased severity of multiple disease outcomes (eg, sepsis). This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, May 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Biased expression in bone marrow (RPKM 1065.5), appendix (RPKM 118.0) and 2 other tissues See more Orthologs all
CXCL9, Official Symbol CXCL9provided by HGNC Official Full Name C-X-C motif chemokine ligand 9provided by HGNC Primary source HGNC:HGNC:7098 See related Ensembl:ENSG00000138755 MIM:601704; AllianceGenome:HGNC:7098 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMK; MIG; Humig; SCYB9; crg-10 Summary This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded is thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Biased expression in lymph node (RPKM 167.1), appendix (RPKM 44.1) and 5 other tissues See more Orthologs mouse all
CXCR1, Official Symbol CXCR1provided by HGNC Official Full Name C-X-C motif chemokine receptor 1provided by HGNC Primary source HGNC:HGNC:6026 See related Ensembl:ENSG00000163464 MIM:146929; AllianceGenome:HGNC:6026 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C-C; CD128; CD181; CKR-1; IL8R1; IL8RA; CMKAR1; IL8RBA; CDw128a; C-C-CKR-1 Summary The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 17.0), spleen (RPKM 9.7) and 6 other tissues See more Orthologs all
CXCR2, Official Symbol CXCR2provided by HGNC Official Full Name C-X-C motif chemokine receptor 2provided by HGNC Primary source HGNC:HGNC:6027 See related Ensembl:ENSG00000180871 MIM:146928; AllianceGenome:HGNC:6027 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CD182; IL8R2; IL8RA; IL8RB; CMKAR2; WHIMS2; CDw128b Summary The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009] Expression Biased expression in appendix (RPKM 20.0), spleen (RPKM 13.2) and 7 other tissues See more Orthologs mouse all
CXCR3, Official Symbol CXCR3provided by HGNC Official Full Name C-X-C motif chemokine receptor 3provided by HGNC Primary source HGNC:HGNC:4540 See related Ensembl:ENSG00000186810 MIM:300574; AllianceGenome:HGNC:4540 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GPR9; MigR; CD182; CD183; Mig-R; CKR-L2; CMKAR3; IP10-R Summary This gene encodes a G protein-coupled receptor with selectivity for three chemokines, termed CXCL9/Mig (monokine induced by interferon-g), CXCL10/IP10 (interferon-g-inducible 10 kDa protein) and CXCL11/I-TAC (interferon-inducible T cell a-chemoattractant). Binding of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the isoforms (CXCR3-B) shows high affinity binding to chemokine, CXCL4/PF4 (PMID:12782716). [provided by RefSeq, Jun 2011] Expression Biased expression in lymph node (RPKM 6.3), spleen (RPKM 3.4) and 13 other tissues See more Orthologs mouse all
CXCR4, Official Symbol CXCR4provided by HGNC Official Full Name C-X-C motif chemokine receptor 4provided by HGNC Primary source HGNC:HGNC:2561 See related Ensembl:ENSG00000121966 MIM:162643; AllianceGenome:HGNC:2561 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FB22; HM89; LAP3; LCR1; NPYR; WHIM; CD184; LAP-3; LESTR; NPY3R; NPYRL; WHIMS; HSY3RR; NPYY3R; WHIMS1; D2S201E Summary This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 479.2), lymph node (RPKM 201.0) and 9 other tissues See more Orthologs mouse all
CXCR5, Official Symbol CXCR5provided by HGNC Official Full Name C-X-C motif chemokine receptor 5provided by HGNC Primary source HGNC:HGNC:1060 See related Ensembl:ENSG00000160683 MIM:601613; AllianceGenome:HGNC:1060 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BLR1; CD185; MDR15 Summary This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Expression Biased expression in lymph node (RPKM 22.1), spleen (RPKM 17.8) and 3 other tissues See more Orthologs mouse all
CXXC1, Official Symbol CXXC1provided by HGNC Official Full Name CXXC finger protein 1provided by HGNC Primary source HGNC:HGNC:24343 See related Ensembl:ENSG00000154832 MIM:609150; AllianceGenome:HGNC:24343 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CFP1; CGBP; SPP1; PCCX1; PHF18; hCGBP; ZCGPC1; HsT2645; 2410002I16Rik; 5830420C16Rik Summary This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in bone marrow (RPKM 16.4), lymph node (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
CXXC4, Official Symbol CXXC4provided by HGNC Official Full Name CXXC finger protein 4provided by HGNC Primary source HGNC:HGNC:24593 See related Ensembl:ENSG00000168772 MIM:611645; AllianceGenome:HGNC:24593 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IDAX Summary This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Broad expression in brain (RPKM 4.6), thyroid (RPKM 1.9) and 20 other tissues See more Orthologs mouse all
CXXC4-AS1, Official Symbol CXXC4-AS1provided by HGNC Official Full Name CXXC4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41054 See related Ensembl:ENSG00000245384 AllianceGenome:HGNC:41054 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
CXXC5, Official Symbol CXXC5provided by HGNC Official Full Name CXXC finger protein 5provided by HGNC Primary source HGNC:HGNC:26943 See related Ensembl:ENSG00000171604 MIM:612752; AllianceGenome:HGNC:26943 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CF5; WID; RINF; HSPC195 Summary The protein encoded by this gene is a retinoid-inducible nuclear protein containing a CXXC-type zinc finger motif. The encoded protein is involved in myelopoiesis, is required for DNA damage-induced p53 activation, regulates the differentiation of C2C12 myoblasts into myocytes, and negatively regulates cutaneous wound healing. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in brain (RPKM 19.6), kidney (RPKM 19.4) and 24 other tissues See more Orthologs mouse all
CXXC5-AS1, Official Symbol CXXC5-AS1provided by HGNC Official Full Name CXXC5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53009 See related Ensembl:ENSG00000250635 AllianceGenome:HGNC:53009 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CXorf38, Official Symbol CXorf38provided by HGNC Official Full Name chromosome X open reading frame 38provided by HGNC Primary source HGNC:HGNC:28589 See related Ensembl:ENSG00000185753 AllianceGenome:HGNC:28589 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in lymph node (RPKM 5.9), thyroid (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
CXorf49, Official Symbol CXorf49provided by HGNC Official Full Name chromosome X open reading frame 49provided by HGNC Primary source HGNC:HGNC:30891 See related Ensembl:ENSG00000215115 AllianceGenome:HGNC:30891 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CXorf49B Expression Restricted expression toward testis (RPKM 3.0) See more
CXorf49B, Official Symbol CXorf49Bprovided by HGNC Official Full Name chromosome X open reading frame 49Bprovided by HGNC Primary source HGNC:HGNC:34229 See related Ensembl:ENSG00000215113 AllianceGenome:HGNC:34229 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CXorf49 Expression Restricted expression toward testis (RPKM 3.0) See more Orthologs all
CXorf51A, Official Symbol CXorf51Aprovided by HGNC Official Full Name chromosome X open reading frame 51Aprovided by HGNC Primary source HGNC:HGNC:30533 See related Ensembl:ENSG00000224440 AllianceGenome:HGNC:30533 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CXorf51; CXorf51B Expression Restricted expression toward testis (RPKM 27.8) See more Orthologs all
CXorf58, Official Symbol CXorf58provided by HGNC Official Full Name chromosome X open reading frame 58provided by HGNC Primary source HGNC:HGNC:26356 See related Ensembl:ENSG00000165182 AllianceGenome:HGNC:26356 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 2.2) and thyroid (RPKM 0.1) See more Orthologs mouse all
CXorf65, Official Symbol CXorf65provided by HGNC Official Full Name chromosome X open reading frame 65provided by HGNC Primary source HGNC:HGNC:33713 See related Ensembl:ENSG00000204165 AllianceGenome:HGNC:33713 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 7.7), lymph node (RPKM 2.7) and 5 other tissues See more Orthologs mouse all
CXorf66, Official Symbol CXorf66provided by HGNC Official Full Name chromosome X open reading frame 66provided by HGNC Primary source HGNC:HGNC:33743 See related Ensembl:ENSG00000203933 AllianceGenome:HGNC:33743 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SGPX Summary The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 2009] Expression Restricted expression toward testis (RPKM 8.5) See more Orthologs mouse all
CYB561, Official Symbol CYB561provided by HGNC Official Full Name cytochrome b561provided by HGNC Primary source HGNC:HGNC:2571 See related Ensembl:ENSG00000008283 MIM:600019; AllianceGenome:HGNC:2571 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FRRS2; CGCytb; ORTHYP2; CYB561A1 Summary Predicted to enable transmembrane monodehydroascorbate reductase activity. Predicted to be involved in ascorbate homeostasis. Predicted to be located in chromaffin granule membrane. Predicted to be active in lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 53.1), prostate (RPKM 31.9) and 23 other tissues See more Orthologs mouse all
CYB561A3, Official Symbol CYB561A3provided by HGNC Official Full Name cytochrome b561 family member A3provided by HGNC Primary source HGNC:HGNC:23014 See related Ensembl:ENSG00000162144 MIM:618757; AllianceGenome:HGNC:23014 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCYTB; CYBASC3 Summary Predicted to enable transmembrane ascorbate ferrireductase activity. Predicted to be involved in cellular iron ion homeostasis. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 44.3), lymph node (RPKM 18.0) and 23 other tissues See more Orthologs mouse all
CYB561D1, Official Symbol CYB561D1provided by HGNC Official Full Name cytochrome b561 family member D1provided by HGNC Primary source HGNC:HGNC:26804 See related Ensembl:ENSG00000174151 AllianceGenome:HGNC:26804 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable heme binding activity and oxidoreductase activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
CYB5A, Official Symbol CYB5Aprovided by HGNC Official Full Name cytochrome b5 type Aprovided by HGNC Primary source HGNC:HGNC:2570 See related Ensembl:ENSG00000166347 MIM:613218; AllianceGenome:HGNC:2570 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CYB5; MCB5; METAG Summary The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] Expression Broad expression in liver (RPKM 226.1), kidney (RPKM 141.0) and 16 other tissues See more Orthologs mouse all
CYB5AP2, Official Symbol CYB5AP2provided by HGNC Official Full Name cytochrome b5 type A pseudogene 2provided by HGNC Primary source HGNC:HGNC:2573 See related AllianceGenome:HGNC:2573 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CYB5P2
CYB5B, Official Symbol CYB5Bprovided by HGNC Official Full Name cytochrome b5 type Bprovided by HGNC Primary source HGNC:HGNC:24374 See related Ensembl:ENSG00000103018 MIM:611964; AllianceGenome:HGNC:24374 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OMB5; CYB5-M; CYPB5M Summary Enables heme binding activity. Contributes to nitrite reductase (NO-forming) activity. Involved in nitric oxide biosynthetic process. Located in membrane. Part of nitric-oxide synthase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 70.4), colon (RPKM 17.6) and 22 other tissues See more Orthologs mouse all
CYB5D1, Official Symbol CYB5D1provided by HGNC Official Full Name cytochrome b5 domain containing 1provided by HGNC Primary source HGNC:HGNC:26516 See related Ensembl:ENSG00000182224 AllianceGenome:HGNC:26516 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 10.7), kidney (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
CYB5D2, Official Symbol CYB5D2provided by HGNC Official Full Name cytochrome b5 domain containing 2provided by HGNC Primary source HGNC:HGNC:28471 See related Ensembl:ENSG00000167740 AllianceGenome:HGNC:28471 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable heme binding activity. Predicted to be involved in nervous system development. Predicted to act upstream of or within positive regulation of neuron differentiation. Predicted to be located in extracellular region. Predicted to be active in endomembrane system and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.4), kidney (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
CYB5R1, Official Symbol CYB5R1provided by HGNC Official Full Name cytochrome b5 reductase 1provided by HGNC Primary source HGNC:HGNC:13397 See related Ensembl:ENSG00000159348 MIM:608341; AllianceGenome:HGNC:13397 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B5R1; B5R2; B5R.1; NQO3A2; humb5R2 Summary Predicted to enable FAD binding activity. Predicted to be involved in bicarbonate transport. Located in extracellular exosome; membrane; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 57.6), heart (RPKM 53.8) and 25 other tissues See more Orthologs mouse all
CYB5R2, Official Symbol CYB5R2provided by HGNC Official Full Name cytochrome b5 reductase 2provided by HGNC Primary source HGNC:HGNC:24376 See related Ensembl:ENSG00000166394 MIM:608342; AllianceGenome:HGNC:24376 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B5R.2 Summary The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Expression Biased expression in testis (RPKM 34.1), skin (RPKM 7.5) and 8 other tissues See more Orthologs mouse all
CYB5R3, Official Symbol CYB5R3provided by HGNC Official Full Name cytochrome b5 reductase 3provided by HGNC Primary source HGNC:HGNC:2873 See related Ensembl:ENSG00000100243 MIM:613213; AllianceGenome:HGNC:2873 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B5R; DIA1 Summary This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in fat (RPKM 110.9), testis (RPKM 52.5) and 24 other tissues See more Orthologs mouse all
CYB5R4, Official Symbol CYB5R4provided by HGNC Official Full Name cytochrome b5 reductase 4provided by HGNC Primary source HGNC:HGNC:20147 See related Ensembl:ENSG00000065615 MIM:608343; AllianceGenome:HGNC:20147 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NCB5OR; cb5/cb5R; dJ676J13.1 Summary NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010] Expression Broad expression in testis (RPKM 17.2), appendix (RPKM 16.0) and 24 other tissues See more Orthologs all
CYB5RL, Official Symbol CYB5RLprovided by HGNC Official Full Name cytochrome b5 reductase likeprovided by HGNC Primary source HGNC:HGNC:32220 See related Ensembl:ENSG00000215883 AllianceGenome:HGNC:32220 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable cytochrome-b5 reductase activity, acting on NAD(P)H. Predicted to be involved in bicarbonate transport. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 1.8), adrenal (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
CYBA, Official Symbol CYBAprovided by HGNC Official Full Name cytochrome b-245 alpha chainprovided by HGNC Primary source HGNC:HGNC:2577 See related Ensembl:ENSG00000051523 MIM:608508; AllianceGenome:HGNC:2577 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CGD4; p22-PHOX Summary Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 72.4), spleen (RPKM 55.1) and 18 other tissues See more Orthologs mouse all
CYBB, Official Symbol CYBBprovided by HGNC Official Full Name cytochrome b-245 beta chainprovided by HGNC Primary source HGNC:HGNC:2578 See related Ensembl:ENSG00000165168 MIM:300481; AllianceGenome:HGNC:2578 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CGD; CGDX; NOX2; IMD34; AMCBX2; GP91-1; GP91PHOX; p91-PHOX; GP91-PHOX Summary Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 106.7), bone marrow (RPKM 63.5) and 15 other tissues See more Orthologs mouse all
CYBC1, Official Symbol CYBC1provided by HGNC Official Full Name cytochrome b-245 chaperone 1provided by HGNC Primary source HGNC:HGNC:28672 See related Ensembl:ENSG00000178927 MIM:618334; AllianceGenome:HGNC:28672 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CGD5; Eros; C17orf62 Summary Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in chronic granulomatous disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 26.0), lymph node (RPKM 25.5) and 25 other tissues See more Orthologs mouse all
CYBRD1, Official Symbol CYBRD1provided by HGNC Official Full Name cytochrome b reductase 1provided by HGNC Primary source HGNC:HGNC:20797 See related Ensembl:ENSG00000071967 MIM:605745; AllianceGenome:HGNC:20797 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DCYTB; FRRS3; CYB561A2 Summary This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 155.0), small intestine (RPKM 130.0) and 22 other tissues See more Orthologs mouse all
CYC1, Official Symbol CYC1provided by HGNC Official Full Name cytochrome c1provided by HGNC Primary source HGNC:HGNC:2579 See related Ensembl:ENSG00000179091 MIM:123980; AllianceGenome:HGNC:2579 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UQCR4; MC3DN6 Summary This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in heart (RPKM 77.6), duodenum (RPKM 50.4) and 25 other tissues See more Orthologs mouse all
CYCS, Official Symbol CYCSprovided by HGNC Official Full Name cytochrome c, somaticprovided by HGNC Primary source HGNC:HGNC:19986 See related Ensembl:ENSG00000172115 MIM:123970; AllianceGenome:HGNC:19986 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CYC; HCS; THC4 Summary This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010] Expression Broad expression in heart (RPKM 66.9), colon (RPKM 54.4) and 24 other tissues See more Orthologs mouse all