List of human genes 1639390 184211172 2008-01-14T06:34:22Z Mikael Häggström 2615838 /* Genes contributing to multifactorial diseases */ +insulin gene {{Unreferenced|date=December 2007}} {{TOCright}} This list describes some of the '''most notable [[gene]]s present in the [[human genome]]'''. ''Note: this does not attempt to be an exhausive list of genes, of which there are tens of thousands for humans alone: this is intended to be a list of genes which are particularly notable in scientific research or in their role in relation to disease, or have featured in a recent significant research paper or news story.'' ==Genes notable for their function== {| class="wikitable" | '''[[HUGO]] Symbol''' || '''[[Locus (genetics)|Locus]]''' || '''Gene product''' || '''Associated [[disease]]''' || '''Notes''' || '''Genecard''' |- | [[ALB]] || [[Chromosome 4 (human)|4q11-q13]] || [[Serum albumin]] || -- || The most abundant protein in human [[blood plasma]] || {{genecard|ALB}} |- | [[Bcl-2|BCL2]] || [[Chromosome 18 (human)|18q21.3]] || Apoptosis regulator Bcl-2 / B-cell CLL/lymphoma 2 || Several cancers || The prototype anti-[[apoptosis|apoptotic]] protein || {{genecard|BCL2}} |- | [[CCR5]] || [[Chromosome 3 (human)|3p21]] || chemokine (C-C motif) receptor 5 || -- || Has an important role in resistance to [[infection]]. || {{genecard|CCR5}} |- | [[CD4]] || [[Chromosome 12|12pter-p12]] || CD4 antigen || -- || The prototype marker for [[T helper cells]] || {{genecard|CD4}} |- | [[CD8]] || [[Chromosome 2 (human)|2p12]] || CD8 antigen || -- || The prototype marker for [[cytotoxic T cells]] || {{genecard|CD8A}} |- | [[Interleukin-2|IL2]] || [[Chromosome 4 (human)|4q26-q27]] || [[Interleukin 2]] || Various cancers || Strong pro-inflammatory [[cytokine]] ||{{genecard|IL2}} |- | [[Interleukin 10|IL10]] || [[Chromosome 1 (human)|1q31-q32]] || Interleukin 10 || -- || anti-inflammatory [[cytokine]] ||{{genecard|IL10}} |} ==Genes that have attracted media attention== {| class="wikitable" | '''[[HUGO]] Symbol''' || '''[[Locus (genetics)|Locus]]''' || '''Gene product''' || '''Associated [[disease]]''' || '''Notes''' || '''Genecard''' |- | [[BRCA1]] || [[Chromosome 17 (human)|17q21]] || Breast cancer 1, early onset || [[Breast cancer]] || [[Myriad Genetics]] owns a controversial patent on this gene [http://www.mja.com.au/public/issues/179_04_180803/wal10811_fm.html] ||{{genecard|BRCA1}} |- | [[BRCA2]] || [[Chromosome 13 (human)|13q12-13]] || Breast cancer 2, early onset || [[Breast cancer]] || [[Myriad Genetics]] owns a controversial patent on this gene [http://www.mja.com.au/public/issues/179_04_180803/wal10811_fm.html] ||{{genecard|BRCA2}} |- | [[CD28]] || [[Chromosome 2 (human)|2q33]] || CD28 antigen || -- || The target of the drug [[TGN1412]], which had a dramatic outcome of its first [[clinical trial]] in [[2006]]. || {{genecard|CD28}} |- | [[Zbtb7|ZBTB7A]] || [[Chromosome 19 (human)|19p13.3]] || [[Zbtb7]] / [[POK erythroid myeloid ontogenic factor]] || [[Cancer]] || Originally called ''[[Pokémon|POKemon]]'', the gene was renamed after legal threats from [[The Pokémon Company|Pokémon USA]] [http://www.gamespot.com/news/6141487.html]. ||{{genecard|ZBTB7A}} |} ==Genes causing [[Genetic disorder|hereditary diseases]]== {| class="wikitable" | '''[[HUGO]] Symbol''' || '''[[Locus (genetics)|Locus]]''' || '''Gene product''' || '''Associated [[disease]]''' || '''Notes''' || '''Genecard''' |- | [[APC (gene)|APC]] || [[Chromosome 5 (human)|5q21-q22]] || [[Adenomatous polyposis coli protein]] || [[Familial adenomatous polyposis]] || -- || {{genecard|APC}} |- | [[ASPM]] || [[Chromosome 1 (human)|1q31]] || Abnormal spindle-like microcephaly-associated protein || [[Microcephaly]] || -- ||{{genecard|ASPM}} |- | [[BDNF]] || [[Chromosome 11 (human)|11p13]] || [[Brain-derived neurotrophic factor]] || [[Congenital Central Hypoventilation Syndrome]] || -- || {{genecard|BDNF}} |- | CFTR || [[Chromosome 7 (human)|7q31.2]] || [[Cystic fibrosis transmembrane conductance regulator]] || [[Cystic_Fibrosis|Cystic Fibrosis]] || One of the first genetic diseases for which [[gene therapy]] was believed to be achievable. PMID 16296753 || {{genecard|CFTR}} |- | [[P300/CBP|CREBBP]] || [[Chromosome 16 (human)|16p13.3 ]] || [[CREB]] binding protein || [[Rubinstein-Taybi syndrome]] || -- ||{{genecard|CREBBP}} |- | [[Corticotropin-releasing hormone|CRH]] || [[Chromosome 8 (human)|8q13]] || [[Corticotropin]] releasing hormone || [[Cushing's syndrome]] || -- ||{{genecard|CRH}} |- | [[CXCR4]] || [[Chromosome 2 (human)|2q21]] || Chemokine (C-X-C motif) receptor 4 / fusin || [[WHIM syndrome]] || -- ||{{genecard|CXCR4}} |- | [[DHFR]] || [[Chromosome 5 (human)|5q11.2-q13.2]] || Dihydrofolate reductase || [[Folate deficiency]] || -- ||{{genecard|DHFR}} |- | [[HFE gene|HFE]] || [[Chromosome 6 (human)|6p21.3]] || [[Hereditary hemochromatosis protein precursor]] || [[Haemochromatosis]] || -- ||{{genecard|HFE}} |- | [[KRT14]] || [[Chromosome 17 (human)|17q12-q21]] || [[Keratin]] || [[Epidermolysis bullosa]] || -- || {{genecard|KRT14}} |- | [[KRT5]] || [[Chromosome 12 (human)|12q13]] || [[Keratin]] || [[Epidermolysis bullosa]] || -- || {{genecard|KRT5}} |- | [[PGL2]] || [[Chromosome 11 (human)|11q13.1]] || [[Paraganglioma or familial glomus tumors 2]] || [[Paraganglioma]] || -- ||{{genecard|PGL2}} |- | [[Rhodopsin|RHO]] || [[Chromosome 3 (human)|3q21-q24]] || [[Rhodopsin]] || [[Retinitis pigmentosa]] || -- ||{{genecard|RHO}} |- | [[SDHB]] || [[Chromosome 1 (human)|1p36.1-p35]] || [[Succinate]] [[dehydrogenase]] complex subunit B || [[Pheochromocytoma]]/[[Paraganglioma]] || -- ||{{genecard|SDHB}} |- | [[SDHC (gene)|SDHC]] || [[Chromosome 1 (human)|1q21]] || [[Succinate]] [[dehydrogenase]] complex subunit C || [[Pheochromocytoma]]/[[Paraganglioma]] || -- ||{{genecard|SDHC}} |- | [[SDHD]] || [[Chromosome 11 (human)|11q23]] || [[Succinate]] [[dehydrogenase]] complex subunit D || [[Pheochromocytoma]]/[[Paraganglioma]] || -- ||{{genecard|SDHD}} |- | [[SRY]] || [[Chromosome Y (human)|Yp11.3]] || [[Testis determining factor]] / Sex determining region Y || [[Swyer syndrome]] / [[Gonadal dysgenesis]] / [[Hermaphroditism]] || -- ||{{genecard|SRY}} |- | [[TSC1 (gene)|TSC1]] || [[Chromosome 9 (human)|9q34]] || [[Hamartin]] || [[Tuberous sclerosis]] || -- || {{genecard|TSC1}} |- | [[TSC2]] || [[Chromosome 16 (human)|16p13.3]] || [[Tuberin]] || [[Tuberous sclerosis]] || -- || {{genecard|TSC2}} |} ==Genes contributing to [[Genetic disease#Multifactorial and polygenic disorders|multifactorial]] diseases== {| class="wikitable" | '''[[HUGO]] Symbol''' || '''[[Locus (genetics)|Locus]]''' || '''Gene product''' || '''Associated [[disease]]''' || '''Notes''' || '''Genecard''' |- | [[Amyloid precursor protein|APP]] || [[Chromosome 21 (human)|21q21]] || [[Amyloid precursor protein]] || [[Alzheimer's Disease]] || -- || {{genecard|APP}} |- | [[Gastrin|GAST]] || [[Chromosome 17 (human)|17q21]] || [[Gastrin]] || [[Zollinger-Ellison syndrome]] || -- ||{{genecard|GAST}} |- | [[insulin gene|INS]] || || [[insulin]] || [[diabetes mellitus]] || -- || |- | [[Lck|LCK]] || [[Chromosome 1 (human)|1p35-p34.3]] || [[Leukocyte]]-specific protein tyrosine [[kinase]] || [[Leukemia]] || -- || {{genecard|LCK}} |- | [[LEP]] || [[Chromosome 7 (human)|7q31.3]] || [[Leptin]] || [[Obesity]] || -- || {{genecard|LEP}} |- | [[Leukemia inhibitory factor|LIF]] || [[Chromosome 22 (human)|22q12.1-q12.2]] || [[Leukemia inhibitory factor]] || [[Leukemia]] || -- || {{genecard|LIF}} |- | [[MCM6]] || [[Chromosome 2 (human)|2q21]] || [[MCM6|Minichromosome maintenance deficient 6]] || [[lactose intolerance]] || -- || {{genecard|MCM6}} |- | [[MYH7]] || [[Chromosome 14 (human)|14q12]] || [[Myosin]], heavy polypeptide 7, cardiac muscle, beta || [[Hypertrophic cardiomyopathy]] || -- || {{genecard|MYH7}} |- | [[MyoD|MYOD1]] || [[Chromosome 11 (human)|11p15.4]] || Myogenic differentiation 1 || [[Rhabdomyosarcoma]] || -- ||{{genecard|MYOD1}} |- | [[NPPB]] || [[Chromosome 1 (human)|1p36.2]] || [[Brain Natriuretic Peptide]] || [[Cardiovascular disease]] || -- ||{{genecard|NPPB}} |- | [[OSM]] || [[Chromosome 22 (human)|22q12.1-q12.2]] || [[Oncostatin M]] || [[Leukemia]] || -- ||{{genecard|OSM}} |- | [[Paroxysmal kinesigenic choreoathetosis|PKC]] || [[Chromosome 16 (human)|16p11.2-q12.1]] || [[Paroxysmal kinesigenic choreoathetosis]] || [[Choreoathetosis]] || -- ||{{genecard|PKC}} |- | [[Prolactin-induced protein|PIP]] || [[Chromosome 7 (human)|7q32-q36]] || [[Prolactin-induced protein]] || [[Fibrocystic breast disease]] || -- ||{{genecard|PIP}} |- | [[VMAT2|SLC18A2]] || [[Chromosome 10 (human)|10q25]] || [[Vesicular Monoamine Transporter]] || Drug induced [[mood disorders]] || -- || {{genecard|SLC18A2}} |} ==See also== * [[List of genetic disorders]] * [[List of enzymes]] * [[List of proteins]] [[Category:Genes|*]] [[Category:Genetic disorders|*]] [[Category:Biology lists|Genes]] [[fr:Liste de gènes notoires]] [[hu:Jelentős gének listája]]