List of human genes: Encyclopedia with 57,945 entries from biotech, medicine & life sciences.

List of human genes

1 Genes notable for their function
2 Genes that have attracted media attention
3 Genes causing hereditary diseases
4 Genes contributing to multifactorial diseases
5 See also

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 [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 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 [3].	ZBTB7A

Genes causing hereditary diseases

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	One of the first genetic diseases for which gene therapy was believed to be achievable. PMID 16296753	CFTR
CREBBP	16p13.3	CREB binding protein	Rubinstein-Taybi syndrome	--	CREBBP
CRH	8q13	Corticotropin releasing hormone	Cushing's syndrome	--	CRH
CXCR4	2q21	Chemokine (C-X-C motif) receptor 4 / fusin	WHIM syndrome	--	CXCR4
DHFR	5q11.2-q13.2	Dihydrofolate reductase	Folate deficiency	--	DHFR
HFE	6p21.3	Hereditary hemochromatosis protein precursor	Haemochromatosis	--	HFE
KRT14	17q12-q21	Keratin	Epidermolysis bullosa	--	KRT14
KRT5	12q13	Keratin	Epidermolysis bullosa	--	KRT5
PGL2	11q13.1	Paraganglioma or familial glomus tumors 2	Paraganglioma	--	PGL2
RHO	3q21-q24	Rhodopsin	Retinitis pigmentosa	--	RHO
SDHB	1p36.1-p35	Succinate dehydrogenase complex subunit B	Pheochromocytoma/Paraganglioma	--	SDHB
SDHC	1q21	Succinate dehydrogenase complex subunit C	Pheochromocytoma/Paraganglioma	--	SDHC
SDHD	11q23	Succinate dehydrogenase complex subunit D	Pheochromocytoma/Paraganglioma	--	SDHD
SRY	Yp11.3	Testis determining factor / Sex determining region Y	Swyer syndrome / Gonadal dysgenesis / Hermaphroditism	--	SRY
TSC1	9q34	Hamartin	Tuberous sclerosis	--	TSC1
TSC2	16p13.3	Tuberin	Tuberous sclerosis	--	TSC2

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

Life Science Encyclopedia

Contents

Genes notable for their function

Genes that have attracted media attention

Genes causing hereditary diseases

Genes contributing to multifactorial diseases

See also

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