List of human genes
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This list describes some of the most notable genes 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
| HUGO Symbol | Locus | Gene product | Associated disease | Notes | Genecard |
| ALB | 4q11-q13 | Serum albumin | -- | The most abundant protein in human blood plasma | ALB |
| BCL2 | 18q21.3 | Apoptosis regulator Bcl-2 / B-cell CLL/lymphoma 2 | Several cancers | The prototype anti-apoptotic protein | BCL2 |
| CCR5 | 3p21 | chemokine (C-C motif) receptor 5 | -- | Has an important role in resistance to infection. | CCR5 |
| CD4 | 12pter-p12 | CD4 antigen | -- | The prototype marker for T helper cells | CD4 |
| CD8 | 2p12 | CD8 antigen | -- | The prototype marker for cytotoxic T cells | CD8A |
| IL2 | 4q26-q27 | Interleukin 2 | Various cancers | Strong pro-inflammatory cytokine | IL2 |
| IL10 | 1q31-q32 | Interleukin 10 | -- | anti-inflammatory cytokine | IL10 |
Genes that have attracted media attention
| HUGO Symbol | Locus | Gene product | Associated disease | Notes | Genecard |
| BRCA1 | 17q21 | Breast cancer 1, early onset | Breast cancer | Myriad Genetics owns a controversial patent on this gene [2] | BRCA1 |
| BRCA2 | 13q12-13 | Breast cancer 2, early onset | Breast cancer | Myriad Genetics owns a controversial patent on this gene [3] | BRCA2 |
| CD28 | 2q33 | CD28 antigen | -- | The target of the drug TGN1412, which had a dramatic outcome of its first clinical trial in 2006. | CD28 |
| ZBTB7A | 19p13.3 | Zbtb7 / POK erythroid myeloid ontogenic factor | Cancer | Originally called POKemon, the gene was renamed after legal threats from Pokémon USA [4]. | ZBTB7A |
Genes causing hereditary diseases
Genes contributing to multifactorial diseases
| HUGO Symbol | Locus | Gene product | Associated disease | Notes | Genecard |
| APP | 21q21 | Amyloid precursor protein | Alzheimer's Disease | -- | APP |
| GAST | 17q21 | Gastrin | Zollinger-Ellison syndrome | -- | GAST |
| LCK | 1p35-p34.3 | Leukocyte-specific protein tyrosine kinase | Leukemia | -- | LCK |
| LEP | 7q31.3 | Leptin | Obesity | -- | LEP |
| LIF | 22q12.1-q12.2 | Leukemia inhibitory factor | Leukemia | -- | LIF |
| MCM6 | 2q21 | Minichromosome maintenance deficient 6 | lactose intolerance | -- | MCM6 |
| MYH7 | 14q12 | Myosin, heavy polypeptide 7, cardiac muscle, beta | Hypertrophic cardiomyopathy | -- | MYH7 |
| MYOD1 | 11p15.4 | Myogenic differentiation 1 | Rhabdomyosarcoma | -- | MYOD1 |
| NPPB | 1p36.2 | Brain Natriuretic Peptide | Cardiovascular disease | -- | NPPB |
| OSM | 22q12.1-q12.2 | Oncostatin M | Leukemia | -- | OSM |
| PKC | 16p11.2-q12.1 | Paroxysmal kinesigenic choreoathetosis | Choreoathetosis | -- | PKC |
| PIP | 7q32-q36 | Prolactin-induced protein | Fibrocystic breast disease | -- | PIP |
| SLC18A2 | 10q25 | Vesicular Monoamine Transporter | Drug induced mood disorders | -- | SLC18A2 |
See also
fr:Liste de gènes notoires
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
