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 exhaustive 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[edit]

HUGO Symbol Locus Gene product Associated disease Notes Genecard
ABO Glycosyl transferases -- Determinant of blood type (ABO)
ALB 4 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[edit]

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 immunomodulatory drug TGN1412, which had a dramatic outcome of its first clinical trial in 2006. GeneCard for CD28
NPTN 15q22 Neuroplastin -- A study found that "teenagers who had a highly functioning NPTN gene performed better in intelligence tests".[3][4][5] GeneCard for NPTN
ZBTB7A 19p13.3 Zbtb7 / POK erythroid myeloid ontogenic factor Cancer Originally called POKemon, the gene was renamed after legal threats from Pokémon USA [6]. GeneCard for ZBTB7A

Genes causing hereditary diseases[edit]

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
MEFV 16p13.3 Pyrin Familial Mediterranean Fever -- GeneCard for MEFV

Genes contributing to multifactorial diseases[edit]

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 11p15.5 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[edit]

External links[edit]