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.
[edit]Genes notable for their function
| HUGOSymbol | Locus | Gene product | Associateddisease | Notes | Genecard |
| ALB | 4q11-q13 | Serum albumin | -- | The most abundant protein in humanblood 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 toinfection. | 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 |
[edit]Genes that have attracted media attention
| HUGOSymbol | Locus | Gene product | Associateddisease | Notes | Genecard |
| BRCA1 | 17q21 | Breast cancer 1, early onset | Breast cancer | Myriad Genetics owns a controversial patent on this gene [1] | BRCA1 |
| BRCA2 | 13q12-13 | Breast cancer 2, early onset | Breast cancer | Myriad Genetics owns a controversial patent on this gene [2] | BRCA2 |
| CD28 | 2q33 | CD28 antigen | -- | The target of the drug TGN1412, which had a dramatic outcome of its first clinical trialin 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 [3]. | ZBTB7A |
[edit]Genes causing hereditary diseases
[edit]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 |
| INS | insulin | diabetes mellitus | -- | ||
| 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 |
