psui3905/ncbi_genes_summary huggingface dataset:
SERF1A, Official Symbol SERF1Aprovided by HGNC Official Full Name small EDRK-rich factor 1Aprovided by HGNC Primary source HGNC:HGNC:10755 See related Ensembl:ENSG00000172058 MIM:603011; AllianceGenome:HGNC:10755 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 4F5; H4F5; FAM2A; SERF1; SMAM1 Summary This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008] Annotation information Note: June 2007: The sequences of SERF1A and SERF1B are identical. The names were switched so that the location of each gene corresponds with the official nomenclature, which specifies telomeric and centromeric copies. [26 Jun 2007] Expression Broad expression in testis (RPKM 16.4), brain (RPKM 11.1) and 25 other tissues See more Orthologs all
SERF1AP1, Official Symbol SERF1AP1provided by HGNC Official Full Name small EDRK-rich factor 1A pseudogene 1provided by HGNC Primary source HGNC:HGNC:44061 See related Ensembl:ENSG00000250813 AllianceGenome:HGNC:44061 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SERF1B, Official Symbol SERF1Bprovided by HGNC Official Full Name small EDRK-rich factor 1Bprovided by HGNC Primary source HGNC:HGNC:10756 See related Ensembl:ENSG00000205572 AllianceGenome:HGNC:10756 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 h4F5; FAM2B; H4F5C Summary This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008] Annotation information Note: June 2007: The sequences of SERF1A and SERF1B are identical. The names were switched so that the location of each gene corresponds with the official nomenclature, which specifies telomeric and centromeric copies. [26 Jun 2007] Expression Broad expression in testis (RPKM 16.5), brain (RPKM 11.2) and 25 other tissues See more Orthologs all
SERF2, Official Symbol SERF2provided by HGNC Official Full Name small EDRK-rich factor 2provided by HGNC Primary source HGNC:HGNC:10757 See related Ensembl:ENSG00000140264 MIM:605054; AllianceGenome:HGNC:10757 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 FAM2C; 4F5REL; H4F5REL; HsT17089 Summary Involved in protein destabilization. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 57.5), colon (RPKM 53.4) and 25 other tissues See more Orthologs mouse all
SERGEF, Official Symbol SERGEFprovided by HGNC Official Full Name secretion regulating guanine nucleotide exchange factorprovided by HGNC Primary source HGNC:HGNC:17499 See related Ensembl:ENSG00000129158 MIM:606051; AllianceGenome:HGNC:17499 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 Gnefr; DELGEF Summary Predicted to enable guanyl-nucleotide exchange factor activity. Involved in negative regulation of protein secretion. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 11.3), thyroid (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
SERHL, Official Symbol SERHLprovided by HGNC Official Full Name serine hydrolase like (pseudogene)provided by HGNC Primary source HGNC:HGNC:14408 See related Ensembl:ENSG00000172250 MIM:607979; AllianceGenome:HGNC:14408 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HS126B42; BK126B4.1; BK126B4.2; dJ222E13.1 Summary Predicted to enable hydrolase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 17.0), ovary (RPKM 13.4) and 25 other tissues See more
SERHL2, Official Symbol SERHL2provided by HGNC Official Full Name serine hydrolase like 2provided by HGNC Primary source HGNC:HGNC:29446 See related Ensembl:ENSG00000183569 MIM:619045; AllianceGenome:HGNC:29446 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 dJ222E13.1 Summary Predicted to enable hydrolase activity. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 8.8), ovary (RPKM 8.8) and 24 other tissues See more Orthologs mouse all
SERINC1, Official Symbol SERINC1provided by HGNC Official Full Name serine incorporator 1provided by HGNC Primary source HGNC:HGNC:13464 See related Ensembl:ENSG00000111897 MIM:614548; AllianceGenome:HGNC:13464 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 TDE2; TMS2; TDE1L; TMS-2 Summary Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in several processes, including phosphatidylserine metabolic process; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; and positive regulation of serine C-palmitoyltransferase activity. Predicted to be located in endoplasmic reticulum membrane and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 241.4), adrenal (RPKM 145.5) and 25 other tissues See more Orthologs mouse all
SERINC2, Official Symbol SERINC2provided by HGNC Official Full Name serine incorporator 2provided by HGNC Primary source HGNC:HGNC:23231 See related Ensembl:ENSG00000168528 MIM:614549; AllianceGenome:HGNC:23231 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 TDE2; TDE2L; FKSG84; PRO0899 Summary Predicted to be involved in several processes, including phosphatidylserine metabolic process; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; and positive regulation of serine C-palmitoyltransferase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in urinary bladder (RPKM 35.4), colon (RPKM 35.3) and 17 other tissues See more Orthologs mouse all
SERINC3, Official Symbol SERINC3provided by HGNC Official Full Name serine incorporator 3provided by HGNC Primary source HGNC:HGNC:11699 See related Ensembl:ENSG00000132824 MIM:607165; AllianceGenome:HGNC:11699 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 TDE; TDE1; AIGP1; TMS-1; DIFF33; SBBI99 Summary Predicted to enable L-serine transmembrane transporter activity. Involved in defense response to virus; detection of virus; and innate immune response. Predicted to be located in Golgi apparatus. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 33.6), testis (RPKM 32.1) and 25 other tissues See more Orthologs mouse all
SERINC4, Official Symbol SERINC4provided by HGNC Official Full Name serine incorporator 4provided by HGNC Primary source HGNC:HGNC:32237 See related Ensembl:ENSG00000184716 MIM:614550; AllianceGenome:HGNC:32237 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 be involved in phospholipid biosynthetic process. Predicted to be integral component of membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 18.4), adrenal (RPKM 16.7) and 25 other tissues See more Orthologs mouse all
SERINC5, Official Symbol SERINC5provided by HGNC Official Full Name serine incorporator 5provided by HGNC Primary source HGNC:HGNC:18825 See related Ensembl:ENSG00000164300 MIM:614551; AllianceGenome:HGNC:18825 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 TPO1; C5orf12 Summary Predicted to enable L-serine transmembrane transporter activity. Involved in defense response to virus; detection of virus; and innate immune response. Located in several cellular components, including centrosome; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 21.2), colon (RPKM 21.1) and 24 other tissues See more Orthologs mouse all
SERP1, Official Symbol SERP1provided by HGNC Official Full Name stress associated endoplasmic reticulum protein 1provided by HGNC Primary source HGNC:HGNC:10759 See related Ensembl:ENSG00000120742 MIM:617674; AllianceGenome:HGNC:10759 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 RAMP4 Summary Predicted to be involved in endoplasmic reticulum unfolded protein response and protein glycosylation. Predicted to act upstream of or within several processes, including multicellular organism aging; positive regulation of organ growth; and positive regulation of peptide hormone secretion. Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 68.2), prostate (RPKM 46.3) and 25 other tissues See more Orthologs mouse all
SERP2, Official Symbol SERP2provided by HGNC Official Full Name stress associated endoplasmic reticulum protein family member 2provided by HGNC Primary source HGNC:HGNC:20607 See related Ensembl:ENSG00000151778 AllianceGenome:HGNC:20607 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 C13orf21; bA269C23.1 Summary Predicted to be involved in endoplasmic reticulum unfolded protein response and protein glycosylation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 17.7), testis (RPKM 10.7) and 16 other tissues See more Orthologs mouse all
SERPINA1, Official Symbol SERPINA1provided by HGNC Official Full Name serpin family A member 1provided by HGNC Primary source HGNC:HGNC:8941 See related Ensembl:ENSG00000197249 MIM:107400; AllianceGenome:HGNC:8941 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 PI; A1A; AAT; PI1; A1AT; nNIF; PRO2275; alpha1AT Summary The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020] Expression Biased expression in liver (RPKM 3603.5) and small intestine (RPKM 158.3) See more Orthologs all
SERPINA10, Official Symbol SERPINA10provided by HGNC Official Full Name serpin family A member 10provided by HGNC Primary source HGNC:HGNC:15996 See related Ensembl:ENSG00000140093 MIM:605271; AllianceGenome:HGNC:15996 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 PZI; ZPI Summary The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010] Expression Restricted expression toward liver (RPKM 44.6) See more Orthologs mouse all
SERPINA11, Official Symbol SERPINA11provided by HGNC Official Full Name serpin family A member 11provided by HGNC Primary source HGNC:HGNC:19193 See related Ensembl:ENSG00000186910 MIM:619619; AllianceGenome:HGNC:19193 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 serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward liver (RPKM 125.9) See more Orthologs all
SERPINA12, Official Symbol SERPINA12provided by HGNC Official Full Name serpin family A member 12provided by HGNC Primary source HGNC:HGNC:18359 See related Ensembl:ENSG00000165953 MIM:617471; AllianceGenome:HGNC:18359 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 OL-64 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to act upstream of or within negative regulation of gluconeogenesis; positive regulation of signal transduction; and regulation of lipid metabolic process. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 63.5) See more Orthologs all
SERPINA15P, Official Symbol SERPINA15Pprovided by HGNC Official Full Name serpin family A member 15, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44397 See related AllianceGenome:HGNC:44397 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SERPINA2, Official Symbol SERPINA2provided by HGNC Official Full Name serpin family A member 2 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:8985 See related Ensembl:ENSG00000258597 MIM:107410; AllianceGenome:HGNC:8985 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 ATR; PIL; ARGS; psiATR; SERPINA2P Summary This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Note: Population studies indicate that this gene is polymorphic. Deletions, frameshift mutations and a critical start codon mutation (ATG->ATA) have been found in some populations as well as an allele that can encode a functional protein. This gene may be an evolving pseudogene (PMID: 17135331). The reference genome contains the start codon mutation and has a coding region deletion. The NCBI RefSeq Project therefore treats this as a pseudogene. [13 Feb 2013] Expression Low expression observed in reference dataset See more
SERPINA3, Official Symbol SERPINA3provided by HGNC Official Full Name serpin family A member 3provided by HGNC Primary source HGNC:HGNC:16 See related Ensembl:ENSG00000196136 MIM:107280; AllianceGenome:HGNC:16 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 ACT; AACT; GIG24; GIG25 Summary The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020] Expression Biased expression in liver (RPKM 989.5), gall bladder (RPKM 89.2) and 4 other tissues See more Orthologs all
SERPINA4, Official Symbol SERPINA4provided by HGNC Official Full Name serpin family A member 4provided by HGNC Primary source HGNC:HGNC:8948 See related Ensembl:ENSG00000100665 MIM:147935; AllianceGenome:HGNC:8948 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 KAL; KST; PI4; KLST; PI-4; kallistatin Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Located in extracellular exosome. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 98.1), gall bladder (RPKM 28.7) and 2 other tissues See more Orthologs all
SERPINA5, Official Symbol SERPINA5provided by HGNC Official Full Name serpin family A member 5provided by HGNC Primary source HGNC:HGNC:8723 See related Ensembl:ENSG00000188488 MIM:601841; AllianceGenome:HGNC:8723 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 PCI; PAI3; PAI-3; PCI-B; PROCI; PLANH3 Summary The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012] Expression Biased expression in testis (RPKM 322.5), adrenal (RPKM 213.7) and 6 other tissues See more Orthologs all
SERPINA6, Official Symbol SERPINA6provided by HGNC Official Full Name serpin family A member 6provided by HGNC Primary source HGNC:HGNC:1540 See related Ensembl:ENSG00000170099 MIM:122500; AllianceGenome:HGNC:1540 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 CBG Summary This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 177.4), gall bladder (RPKM 27.4) and 1 other tissue See more Orthologs mouse all
SERPINA7, Official Symbol SERPINA7provided by HGNC Official Full Name serpin family A member 7provided by HGNC Primary source HGNC:HGNC:11583 See related Ensembl:ENSG00000123561 MIM:314200; AllianceGenome:HGNC:11583 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 TBG; TBGQTL Summary There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012] Expression Restricted expression toward liver (RPKM 70.5) See more Orthologs mouse all
SERPINA7P1, Official Symbol SERPINA7P1provided by HGNC Official Full Name serpin family A member 7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44398 See related Ensembl:ENSG00000227657 AllianceGenome:HGNC:44398 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SERPINA9, Official Symbol SERPINA9provided by HGNC Official Full Name serpin family A member 9provided by HGNC Primary source HGNC:HGNC:15995 See related Ensembl:ENSG00000170054 MIM:615677; AllianceGenome:HGNC:15995 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 GCET1; SERPINA11; SERPINA11b Summary Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be located in cytoplasm and membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 11.5) and appendix (RPKM 4.1) See more Orthologs mouse all
SERPINB1, Official Symbol SERPINB1provided by HGNC Official Full Name serpin family B member 1provided by HGNC Primary source HGNC:HGNC:3311 See related Ensembl:ENSG00000021355 MIM:130135; AllianceGenome:HGNC:3311 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 EI; LEI; PI2; MNEI; PI-2; HEL57; M/NEI; ELANH2; HEL-S-27 Summary The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Broad expression in esophagus (RPKM 214.3), bone marrow (RPKM 155.6) and 15 other tissues See more Orthologs all
SERPINB10, Official Symbol SERPINB10provided by HGNC Official Full Name serpin family B member 10provided by HGNC Primary source HGNC:HGNC:8942 See related Ensembl:ENSG00000242550 MIM:602058; AllianceGenome:HGNC:8942 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 PI10; PI-10 Summary This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [provided by RefSeq, Dec 2015] Expression Restricted expression toward bone marrow (RPKM 23.0) See more Orthologs mouse all
SERPINB11, Official Symbol SERPINB11provided by HGNC Official Full Name serpin family B member 11provided by HGNC Primary source HGNC:HGNC:14221 See related Ensembl:ENSG00000206072 MIM:615682; AllianceGenome:HGNC:14221 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 EPIPIN; SERPIN11 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be located in cytoplasm. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in prostate (RPKM 17.6), esophagus (RPKM 11.7) and 1 other tissue See more Orthologs mouse all
SERPINB12, Official Symbol SERPINB12provided by HGNC Official Full Name serpin family B member 12provided by HGNC Primary source HGNC:HGNC:14220 See related Ensembl:ENSG00000166634 MIM:615662; AllianceGenome:HGNC:14220 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 YUKOPIN Summary Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 27.9) See more Orthologs mouse all
SERPINB13, Official Symbol SERPINB13provided by HGNC Official Full Name serpin family B member 13provided by HGNC Primary source HGNC:HGNC:8944 See related Ensembl:ENSG00000197641 MIM:604445; AllianceGenome:HGNC:8944 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 HUR7; PI13; headpin; HSHUR7SEQ Summary The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017] Expression Restricted expression toward esophagus (RPKM 94.0) See more Orthologs mouse all
SERPINB2, Official Symbol SERPINB2provided by HGNC Official Full Name serpin family B member 2provided by HGNC Primary source HGNC:HGNC:8584 See related Ensembl:ENSG00000197632 MIM:173390; AllianceGenome:HGNC:8584 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 PAI; PAI2; PAI-2; PLANH2; HsT1201 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 112.4), skin (RPKM 35.4) and 2 other tissues See more Orthologs mouse all
SERPINB3, Official Symbol SERPINB3provided by HGNC Official Full Name serpin family B member 3provided by HGNC Primary source HGNC:HGNC:10569 See related Ensembl:ENSG00000057149 MIM:600517; AllianceGenome:HGNC:10569 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 SCC; T4-A; SCCA1; SSCA1; SCCA-1; HsT1196; SCCA-PD Summary Enables cysteine-type endopeptidase inhibitor activity; protease binding activity; and virus receptor activity. Involved in several processes, including autocrine signaling; paracrine signaling; and regulation of cellular protein metabolic process. Located in cytoplasmic vesicle; extracellular exosome; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 424.4) See more Orthologs all
SERPINB4, Official Symbol SERPINB4provided by HGNC Official Full Name serpin family B member 4provided by HGNC Primary source HGNC:HGNC:10570 See related Ensembl:ENSG00000206073 MIM:600518; AllianceGenome:HGNC:10570 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 PI11; SCCA1; SCCA2; LEUPIN; SCCA-2 Summary The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017] Expression Biased expression in esophagus (RPKM 63.1), urinary bladder (RPKM 11.6) and 1 other tissue See more Orthologs all
SERPINB5, Official Symbol SERPINB5provided by HGNC Official Full Name serpin family B member 5provided by HGNC Primary source HGNC:HGNC:8949 See related Ensembl:ENSG00000206075 MIM:154790; AllianceGenome:HGNC:8949 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 PI5; maspin Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to act upstream of or within several processes, including extracellular matrix organization; prostate gland morphogenesis; and regulation of epithelial cell proliferation. Located in cytoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 119.0), skin (RPKM 115.3) and 3 other tissues See more Orthologs mouse all
SERPINB6, Official Symbol SERPINB6provided by HGNC Official Full Name serpin family B member 6provided by HGNC Primary source HGNC:HGNC:8950 See related Ensembl:ENSG00000124570 MIM:173321; AllianceGenome:HGNC:8950 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 CAP; PI6; PTI; PI-6; SPI3; DFNB91; MSTP057 Summary The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in small intestine (RPKM 25.4), testis (RPKM 22.1) and 25 other tissues See more Orthologs all
SERPINB7, Official Symbol SERPINB7provided by HGNC Official Full Name serpin family B member 7provided by HGNC Primary source HGNC:HGNC:13902 See related Ensembl:ENSG00000166396 MIM:603357; AllianceGenome:HGNC:13902 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 PPKN; TP55; MEGSIN Summary This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Restricted expression toward skin (RPKM 40.5) See more Orthologs mouse all
SERPINB8, Official Symbol SERPINB8provided by HGNC Official Full Name serpin family B member 8provided by HGNC Primary source HGNC:HGNC:8952 See related Ensembl:ENSG00000166401 MIM:601697; AllianceGenome:HGNC:8952 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 PI8; CAP2; PI-8; PSS5; C18orf53 Summary The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in skin (RPKM 7.4), gall bladder (RPKM 5.8) and 23 other tissues See more Orthologs all
SERPINB8P1, Official Symbol SERPINB8P1provided by HGNC Official Full Name serpin family B member 8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:8953 See related Ensembl:ENSG00000217707 AllianceGenome:HGNC:8953 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 PI8L1; SERPINB11; SERPINBP1
SERPINB9, Official Symbol SERPINB9provided by HGNC Official Full Name serpin family B member 9provided by HGNC Primary source HGNC:HGNC:8955 See related Ensembl:ENSG00000170542 MIM:601799; AllianceGenome:HGNC:8955 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 PI9; CAP3; PI-9; CAP-3 Summary This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012] Expression Broad expression in placenta (RPKM 26.1), appendix (RPKM 19.1) and 21 other tissues See more Orthologs all
SERPINC1, Official Symbol SERPINC1provided by HGNC Official Full Name serpin family C member 1provided by HGNC Primary source HGNC:HGNC:775 See related Ensembl:ENSG00000117601 MIM:107300; AllianceGenome:HGNC:775 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 AT3; AT3D; ATIII; THPH7; ATIII-R2; ATIII-T1; ATIII-T2 Summary The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Restricted expression toward liver (RPKM 926.4) See more Orthologs mouse all
SERPIND1, Official Symbol SERPIND1provided by HGNC Official Full Name serpin family D member 1provided by HGNC Primary source HGNC:HGNC:4838 See related Ensembl:ENSG00000099937 MIM:142360; AllianceGenome:HGNC:4838 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 HC2; LS2; HCF2; HCII; HLS2; THPH10; D22S673 Summary This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015] Expression Restricted expression toward liver (RPKM 330.2) See more Orthologs mouse all
SERPINE1, Official Symbol SERPINE1provided by HGNC Official Full Name serpin family E member 1provided by HGNC Primary source HGNC:HGNC:8583 See related Ensembl:ENSG00000106366 MIM:173360; AllianceGenome:HGNC:8583 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 PAI; PAI1; PAI-1; PLANH1 Summary This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [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 gall bladder (RPKM 208.8), placenta (RPKM 164.7) and 7 other tissues See more Orthologs mouse all
SERPINE2, Official Symbol SERPINE2provided by HGNC Official Full Name serpin family E member 2provided by HGNC Primary source HGNC:HGNC:8951 See related Ensembl:ENSG00000135919 MIM:177010; AllianceGenome:HGNC:8951 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 GDN; PI7; PN1; PNI; PI-7; PN-1; GDNPF Summary This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Biased expression in placenta (RPKM 298.6), brain (RPKM 61.2) and 6 other tissues See more Orthologs mouse all
SERPINE3, Official Symbol SERPINE3provided by HGNC Official Full Name serpin family E member 3provided by HGNC Primary source HGNC:HGNC:24774 See related Ensembl:ENSG00000253309 AllianceGenome:HGNC:24774 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 serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SERPINF1, Official Symbol SERPINF1provided by HGNC Official Full Name serpin family F member 1provided by HGNC Primary source HGNC:HGNC:8824 See related Ensembl:ENSG00000132386 MIM:172860; AllianceGenome:HGNC:8824 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 OI6; OI12; PEDF; EPC-1; PIG35 Summary This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016] Expression Broad expression in liver (RPKM 299.4), gall bladder (RPKM 273.5) and 21 other tissues See more Orthologs mouse all
SERPINF2, Official Symbol SERPINF2provided by HGNC Official Full Name serpin family F member 2provided by HGNC Primary source HGNC:HGNC:9075 See related Ensembl:ENSG00000167711 MIM:613168; AllianceGenome:HGNC:9075 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 AAP; API; PLI; A2AP; alpha2AP; ALPHA-2-PI Summary This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Biased expression in liver (RPKM 275.1) and kidney (RPKM 42.8) See more Orthologs mouse all