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
ABO		Glycosyltransferases	--	Determinant of blood type (ABO)
ALB	4q11-q13	Serum albumin	--	The most abundant protein in human blood plasma	GeneCard for ALB
BCL2	18q21.3	Apoptosis regulator Bcl-2 / B-cell CLL/lymphoma 2	Several cancers	The prototype anti-apoptotic protein	GeneCard for BCL2
CCR5	3p21	chemokine (C-C motif) receptor 5	--	Has an important role in resistance to infection.	GeneCard for CCR5
CD4	12pter-p12	CD4 antigen	--	The prototype marker for T helper cells	GeneCard for CD4
CD8	2p12	CD8 antigen	--	The prototype marker for cytotoxic T cells	GeneCard for CD8A
IL2	4q26-q27	Interleukin 2	Various cancers	Strong pro-inflammatory cytokine	GeneCard for IL2
IL10	1q31-q32	Interleukin 10	--	anti-inflammatory cytokine	GeneCard for 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]	GeneCard for BRCA1
BRCA2	13q12-13	Breast cancer 2, early onset	Breast cancer	Myriad Genetics owns a controversial patent on this gene [2]	GeneCard for BRCA2
CD28	2q33	CD28 antigen	--	The target of the drug TGN1412, which had a dramatic outcome of its first clinical trial in 2006.	GeneCard for 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].	GeneCard for 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	--	GeneCard for APC
ASPM	1q31	Abnormal spindle-like microcephaly-associated protein	Microcephaly	--	GeneCard for ASPM
BDNF	11p13	Brain-derived neurotrophic factor	Congenital Central Hypoventilation Syndrome	--	GeneCard for 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. doi:10.1517/17425247.2.2.269 PMID 16296753	GeneCard for CFTR
CREBBP	16p13.3	CREB binding protein	Rubinstein-Taybi syndrome	--	GeneCard for CREBBP
CRH	8q13	Corticotropin releasing hormone	Cushing's syndrome	--	GeneCard for CRH
CXCR4	2q21	Chemokine (C-X-C motif) receptor 4 / fusin	WHIM syndrome	--	GeneCard for CXCR4
DHFR	5q11.2-q13.2	Dihydrofolate reductase	Folate deficiency	--	GeneCard for DHFR
HFE	6p21.3	Hereditary hemochromatosis protein precursor	Haemochromatosis	--	GeneCard for HFE
KRT14	17q12-q21	Keratin	Epidermolysis bullosa	--	GeneCard for KRT14
KRT5	12q13	Keratin	Epidermolysis bullosa	--	GeneCard for KRT5
PGL2	11q13.1	Paraganglioma or familial glomus tumors 2	Paraganglioma	--	GeneCard for PGL2
PHF8	Xp11.22	PHD finger protein 8	Siderius X-linked mental retardation syndrome	Mutations in the histone demethylase PHF8 cause cleft lip and palate and mental retardation. doi:10.1093/hmg/ddp480 PMID 19843542	GeneCard for PHF8
RHO	3q21-q24	Rhodopsin	Retinitis pigmentosa	--	GeneCard for RHO
SDHB	1p36.1-p35	Succinate dehydrogenase complex subunit B	Pheochromocytoma/Paraganglioma	--	GeneCard for SDHB
SDHC	1q21	Succinate dehydrogenase complex subunit C	Pheochromocytoma/Paraganglioma	--	GeneCard for SDHC
SDHD	11q23	Succinate dehydrogenase complex subunit D	Pheochromocytoma/Paraganglioma	--	GeneCard for SDHD
SRY	Yp11.3	Testis determining factor / Sex determining region Y	Swyer syndrome / Gonadal dysgenesis / Hermaphroditism	--	GeneCard for SRY
TSC1	9q34	Hamartin	Tuberous sclerosis	--	GeneCard for TSC1
TSC2	16p13.3	Tuberin	Tuberous sclerosis	--	GeneCard for TSC2

Genes contributing to multifactorial diseases

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

See also

• List of genetic disorders
• List of gene prediction software
• List of enzymes
• List of proteins
• Human genome
• Portal:Gene Wiki

External links

• iHOP-Protein Information Database
• NextBio-Life Science Search Engine
• Entrez-Cross Database Query Search System
• TranscriptomeBrowser
• Biomedical Entity Network