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 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

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

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 GeneCard for BRCA1
BRCA2 13q12-13 Breast cancer 2, early onset Breast cancer Myriad Genetics owns a controversial patent on this gene 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". 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 . 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
MEFV 16p13.3 Pyrin Familial Mediterranean Fever -- GeneCard for MEFV

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 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

External links

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