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	Template:Genecard
BCL2	18q21.3	Apoptosis regulator Bcl-2 / B-cell CLL/lymphoma 2	Several cancers	The prototype anti-apoptotic protein	Template:Genecard
CCR5	3p21	chemokine (C-C motif) receptor 5	—	Has an important role in resistance to infection.	Template:Genecard
CD4	12pter-p12	CD4 antigen	—	The prototype marker for T helper cells	Template:Genecard
CD8	2p12	CD8 antigen	—	The prototype marker for cytotoxic T cells	Template:Genecard
IL2	4q26-q27	Interleukin 2	Various cancers	Strong pro-inflammatory cytokine	Template:Genecard
IL10	1q31-q32	Interleukin 10	—	anti-inflammatory cytokine	Template:Genecard

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

Genes causing hereditary diseases

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

Genes contributing to multifactorial diseases

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

List of human genes

Genes notable for their function

Genes that have attracted media attention

Genes causing hereditary diseases

Genes contributing to multifactorial diseases

See also