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List of human genes

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List of human genes

This list describes some of the most notable genes present in the human genome.

Note: this does not attempt to be an exhaustive 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 || Gene product || Associated disease || Notes || Genecard |-

| ABO ||  || Glycosyltransferases || -- || Determinant of blood type (ABO) ||

|-

| ALB || 4q11-q13 || Serum albumin || -- || The most abundant protein in human blood plasma || 

|-

| BCL2 || 18q21.3 || Apoptosis regulator Bcl-2 / B-cell CLL/lymphoma 2 || Several cancers || The prototype anti-apoptotic protein || 

|-

| CCR5 || 3p21 || chemokine (C-C motif) receptor 5 || -- || Has an important role in resistance to infection.  || 

|-

| CD4 || 12pter-p12 || CD4 antigen || -- ||  The prototype marker for T helper cells || 

|-

| CD8 || 2p12 || CD8 antigen || -- || The prototype marker for cytotoxic T cells || 

|-

| IL2 || 4q26-q27 || Interleukin 2 || Various cancers || Strong pro-inflammatory cytokine ||

|-

| IL10 || 1q31-q32 || Interleukin 10 || -- || anti-inflammatory cytokine ||

|}

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 [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 immunomodulatory drug TGN1412, which had a dramatic outcome of its first clinical trial in 2006. CD28}}
NPTN 15q22 Neuroplastin -- A study found that "teenagers who had a highly functioning NPTN gene performed better in intelligence tests".[3][4][5] NPTN}}
ZBTB7A 19p13.3 Zbtb7 / POK erythroid myeloid ontogenic factor Cancer Originally called POKemon, the gene was renamed after legal threats from Pokémon USA [6]. ZBTB7A}}

Genes causing hereditary diseases

Note: Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.
HUGO Symbol Locus Gene product Associated disease Notes Genecard
APC 5q21-q22 Adenomatous polyposis coli protein Familial adenomatous polyposis -- APC}}
ASPM 1q31 Abnormal spindle-like microcephaly-associated protein Microcephaly -- ASPM}}
BDNF 11p13 Brain-derived neurotrophic factor Congenital Central Hypoventilation Syndrome -- BDNF}}
CFTR 7q31.2 Cystic fibrosis transmembrane conductance regulator Cystic Fibrosis 10.1517/17425247.2.2.269}} PMID 16296753 CFTR}}
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