Definitions

dominance of genes

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 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
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
BRCA2 13q12-13 Breast cancer 2, early onset Breast cancer Myriad Genetics owns a controversial patent on this gene
CD28 2q33 CD28 antigen -- The target of the drug TGN1412, which had a dramatic outcome of its first clinical trial in 2006.
ZBTB7A 19p13.3 Zbtb7 / POK erythroid myeloid ontogenic factor Cancer Originally called POKemon, the gene was renamed after legal threats from Pokémon USA

Genes causing hereditary diseases

HUGO Symbol Locus Gene product Associated disease Notes Genecard
APC 5q21-q22 Adenomatous polyposis coli protein Familial adenomatous polyposis --
ASPM 1q31 Abnormal spindle-like microcephaly-associated protein Microcephaly --
BDNF 11p13 Brain-derived neurotrophic factor Congenital Central Hypoventilation Syndrome --
CFTR 7q31.2 Cystic fibrosis transmembrane conductance regulator Cystic Fibrosis One of the first genetic diseases for which gene therapy was believed to be achievable. PMID 16296753
CREBBP 16p13.3 CREB binding protein Rubinstein-Taybi syndrome --
CRH 8q13 Corticotropin releasing hormone Cushing's syndrome --
CXCR4 2q21 Chemokine (C-X-C motif) receptor 4 / fusin WHIM syndrome --
DHFR 5q11.2-q13.2 Dihydrofolate reductase Folate deficiency --
HFE 6p21.3 Hereditary hemochromatosis protein precursor Haemochromatosis --
KRT14 17q12-q21 Keratin Epidermolysis bullosa --
KRT5 12q13 Keratin Epidermolysis bullosa --
PGL2 11q13.1 Paraganglioma or familial glomus tumors 2 Paraganglioma --
RHO 3q21-q24 Rhodopsin Retinitis pigmentosa --
SDHB 1p36.1-p35 Succinate dehydrogenase complex subunit B Pheochromocytoma/Paraganglioma --
SDHC 1q21 Succinate dehydrogenase complex subunit C Pheochromocytoma/Paraganglioma --
SDHD 11q23 Succinate dehydrogenase complex subunit D Pheochromocytoma/Paraganglioma --
SRY Yp11.3 Testis determining factor / Sex determining region Y Swyer syndrome / Gonadal dysgenesis / Hermaphroditism --
TSC1 9q34 Hamartin Tuberous sclerosis --
TSC2 16p13.3 Tuberin Tuberous sclerosis --

Genes contributing to multifactorial diseases

HUGO Symbol Locus Gene product Associated disease Notes Genecard
APP 21q21 Amyloid precursor protein Alzheimer's Disease --
GAST 17q21 Gastrin Zollinger-Ellison syndrome --
INS insulin diabetes mellitus --
LCK 1p35-p34.3 Leukocyte-specific protein tyrosine kinase Leukemia --
LEP 7q31.3 Leptin Obesity --
LIF 22q12.1-q12.2 Leukemia inhibitory factor Leukemia --
MCM6 2q21 Minichromosome maintenance deficient 6 lactose intolerance --
MYH7 14q12 Myosin, heavy polypeptide 7, cardiac muscle, beta Hypertrophic cardiomyopathy --
MYOD1 11p15.4 Myogenic differentiation 1 Rhabdomyosarcoma --
NPPB 1p36.2 Brain Natriuretic Peptide Cardiovascular disease --
OSM 22q12.1-q12.2 Oncostatin M Leukemia --
PKC 16p11.2-q12.1 Paroxysmal kinesigenic choreoathetosis Choreoathetosis --
PIP 7q32-q36 Prolactin-induced protein Fibrocystic breast disease --
SLC18A2 10q25 Vesicular Monoamine Transporter Drug induced mood disorders --

See also

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