psui3905/ncbi_genes_summary huggingface dataset:
SNX18, Official Symbol SNX18provided by HGNC Official Full Name sorting nexin 18provided by HGNC Primary source HGNC:HGNC:19245 See related Ensembl:ENSG00000178996 AllianceGenome:HGNC:19245 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 SNAG1; SH3PX2; SH3PXD3B Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 13.6), ovary (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
SNX18P2, Official Symbol SNX18P2provided by HGNC Official Full Name sorting nexin 18 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39610 See related Ensembl:ENSG00000232843 AllianceGenome:HGNC:39610 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX18P23, Official Symbol SNX18P23provided by HGNC Official Full Name sorting nexin 18 pseudogene 23provided by HGNC Primary source HGNC:HGNC:39631 See related AllianceGenome:HGNC:39631 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX18P27, Official Symbol SNX18P27provided by HGNC Official Full Name sorting nexin 18 pseudogene 27provided by HGNC Primary source HGNC:HGNC:39635 See related Ensembl:ENSG00000253418 AllianceGenome:HGNC:39635 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX18P3, Official Symbol SNX18P3provided by HGNC Official Full Name sorting nexin 18 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39611 See related AllianceGenome:HGNC:39611 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX18P4, Official Symbol SNX18P4provided by HGNC Official Full Name sorting nexin 18 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39612 See related AllianceGenome:HGNC:39612 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX18P5, Official Symbol SNX18P5provided by HGNC Official Full Name sorting nexin 18 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39613 See related AllianceGenome:HGNC:39613 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 SNX18P6
SNX19, Official Symbol SNX19provided by HGNC Official Full Name sorting nexin 19provided by HGNC Primary source HGNC:HGNC:21532 See related Ensembl:ENSG00000120451 AllianceGenome:HGNC:21532 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 CHET8 Summary Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in testis (RPKM 9.7), thyroid (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
SNX19P4, Official Symbol SNX19P4provided by HGNC Official Full Name sorting nexin 19 pseudogene 4provided by HGNC Primary source HGNC:HGNC:41510 See related Ensembl:ENSG00000276531 AllianceGenome:HGNC:41510 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX2, Official Symbol SNX2provided by HGNC Official Full Name sorting nexin 2provided by HGNC Primary source HGNC:HGNC:11173 See related Ensembl:ENSG00000205302 MIM:605929; AllianceGenome:HGNC:11173 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 TRG-9 Summary This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013] Expression Ubiquitous expression in thyroid (RPKM 17.2), spleen (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
SNX20, Official Symbol SNX20provided by HGNC Official Full Name sorting nexin 20provided by HGNC Primary source HGNC:HGNC:30390 See related Ensembl:ENSG00000167208 MIM:613281; AllianceGenome:HGNC:30390 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 SLIC1 Summary SNX20 interacts with the cytoplasmic domain of PSGL1 (SELPLG; MIM 600738) and cycles PSGL1 into endosomes.[supplied by OMIM, Feb 2010] Expression Biased expression in lymph node (RPKM 7.6), appendix (RPKM 6.3) and 12 other tissues See more Orthologs mouse all
SNX21, Official Symbol SNX21provided by HGNC Official Full Name sorting nexin family member 21provided by HGNC Primary source HGNC:HGNC:16154 See related Ensembl:ENSG00000124104 MIM:619200; AllianceGenome:HGNC:16154 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 SNXL; SNX-L; PP3993; C20orf161; dJ337O18.4 Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 12.2), fat (RPKM 8.5) and 24 other tissues See more Orthologs mouse all
SNX22, Official Symbol SNX22provided by HGNC Official Full Name sorting nexin 22provided by HGNC Primary source HGNC:HGNC:16315 See related Ensembl:ENSG00000157734 AllianceGenome:HGNC:16315 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 Summary The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in thyroid (RPKM 48.1), placenta (RPKM 36.5) and 25 other tissues See more Orthologs mouse all
SNX24, Official Symbol SNX24provided by HGNC Official Full Name sorting nexin 24provided by HGNC Primary source HGNC:HGNC:21533 See related Ensembl:ENSG00000064652 AllianceGenome:HGNC:21533 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 SBBI31; PRO1284 Summary Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to be involved in protein transport. Predicted to be located in cytoplasmic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 4.0), thyroid (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
SNX25, Official Symbol SNX25provided by HGNC Official Full Name sorting nexin 25provided by HGNC Primary source HGNC:HGNC:21883 See related Ensembl:ENSG00000109762 AllianceGenome:HGNC:21883 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 SBBI31; MSTP043 Summary Predicted to enable type I transforming growth factor beta receptor binding activity. Involved in negative regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of transforming growth factor beta receptor signaling pathway; and receptor catabolic process. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 10.3), thyroid (RPKM 5.9) and 24 other tissues See more Orthologs mouse all
SNX25P1, Official Symbol SNX25P1provided by HGNC Official Full Name sorting nexin 25 pseudogene 1provided by HGNC Primary source HGNC:HGNC:41509 See related Ensembl:ENSG00000236809 AllianceGenome:HGNC:41509 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX27, Official Symbol SNX27provided by HGNC Official Full Name sorting nexin 27provided by HGNC Primary source HGNC:HGNC:20073 See related Ensembl:ENSG00000143376 MIM:611541; AllianceGenome:HGNC:20073 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 MRT1; MY014 Summary This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 9.5), kidney (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
SNX29, Official Symbol SNX29provided by HGNC Official Full Name sorting nexin 29provided by HGNC Primary source HGNC:HGNC:30542 See related Ensembl:ENSG00000048471 AllianceGenome:HGNC:30542 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 RUNDC2A; A-388D4.1 Summary Predicted to enable phosphatidylinositol binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 5.6), lymph node (RPKM 3.2) and 24 other tissues See more Orthologs mouse all
SNX2P1, Official Symbol SNX2P1provided by HGNC Official Full Name sorting nexin 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:41514 See related Ensembl:ENSG00000270585 AllianceGenome:HGNC:41514 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX2P2, Official Symbol SNX2P2provided by HGNC Official Full Name sorting nexin 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:41515 See related Ensembl:ENSG00000236460 AllianceGenome:HGNC:41515 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX3, Official Symbol SNX3provided by HGNC Official Full Name sorting nexin 3provided by HGNC Primary source HGNC:HGNC:11174 See related Ensembl:ENSG00000112335 MIM:605930; AllianceGenome:HGNC:11174 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 SDP3; Grd19; MCOPS8 Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in fat (RPKM 95.7), adrenal (RPKM 90.6) and 25 other tissues See more Orthologs mouse all
SNX30, Official Symbol SNX30provided by HGNC Official Full Name sorting nexin family member 30provided by HGNC Primary source HGNC:HGNC:23685 See related Ensembl:ENSG00000148158 AllianceGenome:HGNC:23685 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 ATG24A Summary Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in protein transport. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 13.0), lung (RPKM 12.9) and 24 other tissues See more Orthologs mouse all
SNX31, Official Symbol SNX31provided by HGNC Official Full Name sorting nexin 31provided by HGNC Primary source HGNC:HGNC:28605 See related Ensembl:ENSG00000174226 MIM:619839; AllianceGenome:HGNC:28605 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 phosphatidylinositol binding activity. Predicted to be involved in intracellular protein transport. Predicted to be located in cytoskeleton. Predicted to be part of protein-containing complex. Predicted to be active in early endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in urinary bladder (RPKM 11.1), esophagus (RPKM 2.0) and 2 other tissues See more Orthologs mouse all
SNX32, Official Symbol SNX32provided by HGNC Official Full Name sorting nexin 32provided by HGNC Primary source HGNC:HGNC:26423 See related Ensembl:ENSG00000172803 AllianceGenome:HGNC:26423 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 SNX6B Summary Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in retrograde transport, endosome to Golgi. Predicted to be located in cytosol. Predicted to be active in endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 2.1), testis (RPKM 1.0) and 7 other tissues See more Orthologs mouse all
SNX33, Official Symbol SNX33provided by HGNC Official Full Name sorting nexin 33provided by HGNC Primary source HGNC:HGNC:28468 See related Ensembl:ENSG00000173548 MIM:619107; AllianceGenome:HGNC:28468 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 SNX30; SH3PX3; SH3PXD3C Summary The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in esophagus (RPKM 14.6), ovary (RPKM 14.1) and 24 other tissues See more Orthologs mouse all
SNX33P1, Official Symbol SNX33P1provided by HGNC Official Full Name sorting nexin 33 pseudogene 1provided by HGNC Primary source HGNC:HGNC:48590 See related AllianceGenome:HGNC:48590 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX3P1X, Official Symbol SNX3P1Xprovided by HGNC Official Full Name sorting nexin 3 pseudogene 1 X-linkedprovided by HGNC Primary source HGNC:HGNC:41516 See related Ensembl:ENSG00000230543 AllianceGenome:HGNC:41516 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX3P1Y, Official Symbol SNX3P1Yprovided by HGNC Official Full Name sorting nexin 3 pseudogene 1 Y-linkedprovided by HGNC Primary source HGNC:HGNC:41517 See related Ensembl:ENSG00000278585 AllianceGenome:HGNC:41517 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX4, Official Symbol SNX4provided by HGNC Official Full Name sorting nexin 4provided by HGNC Primary source HGNC:HGNC:11175 See related Ensembl:ENSG00000114520 MIM:605931; AllianceGenome:HGNC:11175 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 ATG24B Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in thyroid (RPKM 29.2), kidney (RPKM 26.4) and 25 other tissues See more Orthologs mouse all
SNX5, Official Symbol SNX5provided by HGNC Official Full Name sorting nexin 5provided by HGNC Primary source HGNC:HGNC:14969 See related Ensembl:ENSG00000089006 MIM:605937; AllianceGenome:HGNC:14969 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 Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in thyroid (RPKM 76.1), kidney (RPKM 52.7) and 24 other tissues See more Orthologs mouse all
SNX5P1, Official Symbol SNX5P1provided by HGNC Official Full Name sorting nexin 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:41512 See related Ensembl:ENSG00000249858 AllianceGenome:HGNC:41512 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SNX6, Official Symbol SNX6provided by HGNC Official Full Name sorting nexin 6provided by HGNC Primary source HGNC:HGNC:14970 See related Ensembl:ENSG00000129515 MIM:606098; AllianceGenome:HGNC:14970 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 TFAF2; MSTP010 Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 36.9), duodenum (RPKM 33.6) and 25 other tissues See more Orthologs mouse all
SNX7, Official Symbol SNX7provided by HGNC Official Full Name sorting nexin 7provided by HGNC Primary source HGNC:HGNC:14971 See related Ensembl:ENSG00000162627 MIM:614904; AllianceGenome:HGNC:14971 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 Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in colon (RPKM 10.6), small intestine (RPKM 8.3) and 24 other tissues See more Orthologs mouse all
SNX8, Official Symbol SNX8provided by HGNC Official Full Name sorting nexin 8provided by HGNC Primary source HGNC:HGNC:14972 See related Ensembl:ENSG00000106266 MIM:614905; AllianceGenome:HGNC:14972 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 Mvp1 Summary Enables identical protein binding activity and phosphatidylinositol binding activity. Involved in early endosome to Golgi transport and intracellular protein transport. Located in early endosome membrane. Colocalizes with retromer complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 12.6), testis (RPKM 7.0) and 24 other tissues See more Orthologs mouse all
SNX9, Official Symbol SNX9provided by HGNC Official Full Name sorting nexin 9provided by HGNC Primary source HGNC:HGNC:14973 See related Ensembl:ENSG00000130340 MIM:605952; AllianceGenome:HGNC:14973 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 SDP1; WISP; SH3PX1; SH3PXD3A Summary This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in gall bladder (RPKM 27.0), esophagus (RPKM 26.7) and 25 other tissues See more Orthologs mouse all
SNX9-AS1, Official Symbol SNX9-AS1provided by HGNC Official Full Name SNX9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40699 See related AllianceGenome:HGNC:40699 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
SOAT1, Official Symbol SOAT1provided by HGNC Official Full Name sterol O-acyltransferase 1provided by HGNC Primary source HGNC:HGNC:11177 See related Ensembl:ENSG00000057252 MIM:102642; AllianceGenome:HGNC:11177 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 ACAT; SOAT; STAT; ACACT; ACAT1; ACAT-1 Summary The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] Annotation information Note: ACAT1 (Gene ID: 38) and SOAT1 (Gene ID: 6646) share the ACAT1 symbol/alias in common. ACAT1 is a widely used alternative name for sterol O-acyltransferase 1 (SOAT1), which can be confused with the official symbol for ACAT1 (acetyl-CoA acetyltransferase 1, GeneID 38). [01 Jun 2018] Expression Broad expression in adrenal (RPKM 68.9), prostate (RPKM 11.4) and 17 other tissues See more Orthologs mouse all
SOAT2, Official Symbol SOAT2provided by HGNC Official Full Name sterol O-acyltransferase 2provided by HGNC Primary source HGNC:HGNC:11178 See related Ensembl:ENSG00000167780 MIM:601311; AllianceGenome:HGNC:11178 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 ACAT2; ARGP2; ACACT2 Summary Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008] Annotation information Note: ACAT2 (Gene ID: 39) and SOAT2 (Gene ID: 8435) share the ACAT2 symbol/alias in common. ACAT2 is a widely used alternative name for sterol O-acyltransferase 2 (SOAT2), which can be confused with acetyl-CoA acetyltransferase 2 (ACAT2). [20 Jun 2018] Note: ACAT2 (GeneID 39) and SOAT2 (GeneID 8435) loci share the ACAT2 symbol/alias in common. ACAT2 is widely used alternative name for acyl-Coenzyme A: cholesterol acyltransferase 2 (SOAT2) conflicting with the official symbol for acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) (ACAT2). [13 Feb 2013] Expression Biased expression in small intestine (RPKM 4.5), duodenum (RPKM 2.6) and 2 other tissues See more Orthologs mouse all
SOBP, Official Symbol SOBPprovided by HGNC Official Full Name sine oculis binding protein homologprovided by HGNC Primary source HGNC:HGNC:29256 See related Ensembl:ENSG00000112320 MIM:613667; AllianceGenome:HGNC:29256 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 JXC1; MRAMS Summary The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011] Expression Broad expression in brain (RPKM 6.2), ovary (RPKM 3.5) and 21 other tissues See more Orthologs mouse all
SOCS1, Official Symbol SOCS1provided by HGNC Official Full Name suppressor of cytokine signaling 1provided by HGNC Primary source HGNC:HGNC:19383 See related Ensembl:ENSG00000185338 MIM:603597; AllianceGenome:HGNC:19383 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 JAB; CIS1; SSI1; TIP3; CISH1; SSI-1; TIP-3; AISIMD; SOCS-1 Summary This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 6.5), lymph node (RPKM 5.3) and 21 other tissues See more Orthologs mouse all
SOCS2, Official Symbol SOCS2provided by HGNC Official Full Name suppressor of cytokine signaling 2provided by HGNC Primary source HGNC:HGNC:19382 See related Ensembl:ENSG00000120833 MIM:605117; AllianceGenome:HGNC:19382 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 CIS2; SSI2; Cish2; SSI-2; SOCS-2; STATI2 Summary This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] Expression Broad expression in endometrium (RPKM 13.5), prostate (RPKM 10.5) and 22 other tissues See more Orthologs mouse all
SOCS2-AS1, Official Symbol SOCS2-AS1provided by HGNC Official Full Name SOCS2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27054 See related Ensembl:ENSG00000246985 MIM:617269; AllianceGenome:HGNC:27054 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 Broad expression in prostate (RPKM 8.6), endometrium (RPKM 4.1) and 15 other tissues See more
SOCS3, Official Symbol SOCS3provided by HGNC Official Full Name suppressor of cytokine signaling 3provided by HGNC Primary source HGNC:HGNC:19391 See related Ensembl:ENSG00000184557 MIM:604176; AllianceGenome:HGNC:19391 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 CIS3; SSI3; ATOD4; Cish3; SSI-3; SOCS-3 Summary This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 130.8), urinary bladder (RPKM 79.6) and 21 other tissues See more Orthologs mouse all
SOCS3-DT, Official Symbol SOCS3-DTprovided by HGNC Official Full Name SOCS3 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:52799 See related Ensembl:ENSG00000266970 AllianceGenome:HGNC:52799 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
SOCS4, Official Symbol SOCS4provided by HGNC Official Full Name suppressor of cytokine signaling 4provided by HGNC Primary source HGNC:HGNC:19392 See related Ensembl:ENSG00000180008 MIM:616337; AllianceGenome:HGNC:19392 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 SOCS7 Summary The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 5.4), lymph node (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
SOCS5, Official Symbol SOCS5provided by HGNC Official Full Name suppressor of cytokine signaling 5provided by HGNC Primary source HGNC:HGNC:16852 See related Ensembl:ENSG00000171150 MIM:607094; AllianceGenome:HGNC:16852 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 CIS6; CISH6; Cish5; SOCS-5 Summary The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 13.6), endometrium (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
SOCS5P1, Official Symbol SOCS5P1provided by HGNC Official Full Name suppressor of cytokine signaling 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44597 See related Ensembl:ENSG00000236610 AllianceGenome:HGNC:44597 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SOCS5P2, Official Symbol SOCS5P2provided by HGNC Official Full Name suppressor of cytokine signaling 5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44598 See related Ensembl:ENSG00000224682 AllianceGenome:HGNC:44598 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SOCS5P4, Official Symbol SOCS5P4provided by HGNC Official Full Name suppressor of cytokine signaling 5 pseudogene 4provided by HGNC Primary source HGNC:HGNC:44600 See related Ensembl:ENSG00000227536 AllianceGenome:HGNC:44600 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SOCS5P5, Official Symbol SOCS5P5provided by HGNC Official Full Name suppressor of cytokine signaling 5 pseudogene 5provided by HGNC Primary source HGNC:HGNC:44601 See related Ensembl:ENSG00000216904 AllianceGenome:HGNC:44601 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SOCS6, Official Symbol SOCS6provided by HGNC Official Full Name suppressor of cytokine signaling 6provided by HGNC Primary source HGNC:HGNC:16833 See related Ensembl:ENSG00000170677 MIM:605118; AllianceGenome:HGNC:16833 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 CIS4; SSI4; CIS-4; SOCS4; STAI4; SOCS-4; SOCS-6; STATI4; HSPC060 Summary The protein encoded by this gene contains a SH2 domain and a CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 4.2), colon (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
SOCS7, Official Symbol SOCS7provided by HGNC Official Full Name suppressor of cytokine signaling 7provided by HGNC Primary source HGNC:HGNC:29846 See related Ensembl:ENSG00000274211 MIM:608788; AllianceGenome:HGNC:29846 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 NAP4; NCKAP4 Summary Predicted to enable 1-phosphatidylinositol-3-kinase regulator activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. Predicted to act upstream of or within several processes, including brain development; fat cell differentiation; and insulin receptor signaling pathway. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 18.1), brain (RPKM 7.5) and 24 other tissues See more Orthologs mouse all
SOD1, Official Symbol SOD1provided by HGNC Official Full Name superoxide dismutase 1provided by HGNC Primary source HGNC:HGNC:11179 See related Ensembl:ENSG00000142168 MIM:147450; AllianceGenome:HGNC:11179 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 ALS; SOD; ALS1; IPOA; STAHP; hSod1; HEL-S-44; homodimer Summary The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020] Expression Ubiquitous expression in liver (RPKM 426.2), kidney (RPKM 226.6) and 23 other tissues See more Orthologs mouse all
SOD1P1, Official Symbol SOD1P1provided by HGNC Official Full Name superoxide dismutase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45134 See related Ensembl:ENSG00000219074 AllianceGenome:HGNC:45134 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SOD1P2, Official Symbol SOD1P2provided by HGNC Official Full Name superoxide dismutase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:45135 See related Ensembl:ENSG00000261282 AllianceGenome:HGNC:45135 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SOD2, Official Symbol SOD2provided by HGNC Official Full Name superoxide dismutase 2provided by HGNC Primary source HGNC:HGNC:11180 See related Ensembl:ENSG00000291237 MIM:147460; AllianceGenome:HGNC:11180 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 GC1; IPOB; IPO-B; MNSOD; MVCD6; GClnc1; Mn-SOD Summary This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in appendix (RPKM 186.4), bone marrow (RPKM 85.8) and 23 other tissues See more Orthologs mouse all
SOD2-OT1, Official Symbol SOD2-OT1provided by HGNC Official Full Name SOD2 overlapping transcript 1provided by HGNC Primary source HGNC:HGNC:53445 See related Ensembl:ENSG00000285427 AllianceGenome:HGNC:53445 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SOD2 Expression Ubiquitous expression in liver (RPKM 2.4), brain (RPKM 2.1) and 24 other tissues See more
SOD2P1, Official Symbol SOD2P1provided by HGNC Official Full Name superoxide dismutase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45268 See related Ensembl:ENSG00000234257 AllianceGenome:HGNC:45268 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo