List of human genes

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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.

[edit] 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

[edit] 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

[edit] 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

[edit] 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
INS insulin diabetes mellitus --
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

[edit] See also

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