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Liste des Gènes Humains

Genes notable for their function

HUGOSymbol Locus Gene product Associateddisease Notes Genecard
ABO Glycosyl transferases — Determinant ofblood type (ABO)
ALB 4 Serum albumin — The most abundant protein in human blood plasma GeneCardfor ALB
BCL2 18q21.3 Apoptosis regulator Bcl-2 / B-cell CLL/lymphoma 2 Several cancers The prototype anti-apoptoticprotein GeneCardfor BCL2
CCR5 3p21 chemokine (C-C motif) receptor 5 — Has an important role in resistance toinfection. GeneCardfor CCR5
CD4 12pter-p12 CD4 antigen — The prototype marker for T helper cells GeneCardfor CD4
CD8 2p12 CD8 antigen — The prototype marker forcytotoxic T cells GeneCardfor CD8A
IL2 4q26-q27 Interleukin 2 Various cancers Strong pro-inflammatorycytokine GeneCardfor IL2
IL10 1q31-q32 Interleukin 10 — anti-inflammatorycytokine GeneCardfor IL10

Genes that have attracted media attention

HUGOSymbol Locus Gene product Associateddisease Notes Genecard
BRCA1 17q21 Breast cancer 1, early onset Breast cancer Myriad Geneticsowns a controversial patent on this gene [1] GeneCardfor BRCA1
BRCA2 13q12-13 Breast cancer 2, early onset Breast cancer Myriad Geneticsowns a controversial patent on this gene [2] GeneCardfor BRCA2
CD28 2q33 CD28 antigen — The target of the immunomodulatory drug TGN1412, which had a dramatic outcome of its first clinical trial in 2006. GeneCardfor CD28
NPTN 15q22 Neuroplastin — A study found that “teenagers who had a highly functioning NPTN gene performed better in intelligence tests”.[3][4][5] GeneCardfor NPTN
ZBTB7A 19p13.3 Zbtb7 / POK erythroid myeloid ontogenic factor Cancer Originally calledPOKemon, the gene was renamed after legal threats fromPokémon USA. GeneCardforZBTB7A

Genes causing hereditary diseases

It is the occurrence of an abnormality in these genes that causes the disease.

HUGOSymbol Locus Gene product Associated disease Notes Genecard
APC 5q21-q22 Adenomatous polyposis coli protein Familial adenomatous polyposis — GeneCardfor APC
ASPM 1q31 Abnormal spindle-like microcephaly-associated protein Microcephaly — GeneCardfor ASPM
BDNF 11p13 Brain-derived neurotrophic factor Congenital central hypoventilation syndrome — GeneCardfor 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:10.1517/17425247.2.2.269PMID 16296753 GeneCardfor CFTR
CREBBP 16p13.3 CREB binding protein Rubinstein-Taybi syndrome — GeneCardforCREBBP
CRH 8q13 Corticotropinreleasing hormone Cushing’s syndrome — GeneCardfor CRH
CXCR4 2q21 Chemokine (C-X-C motif) receptor 4 / fusin WHIM syndrome — GeneCardfor CXCR4
DHFR 5q11.2-q13.2 Dihydrofolate reductase Folate deficiency — GeneCardfor DHFR
HFE 6p21.3 Hereditary hemochromatosis protein precursor Haemochromatosis — GeneCardfor HFE
KRT14 17q12-q21 Keratin Epidermolysis bullosa — GeneCardfor KRT14
KRT5 12q13 Keratin Epidermolysis bullosa — GeneCardfor KRT5
PGL2 11q13.1 Paraganglioma or familial glomus tumors 2 Paraganglioma — GeneCardfor PGL2
PHF8 Xp11.22 PHD finger protein 8 Siderius X-linked mental retardation syndrome Mutations in the histonedemethylase PHF8 cause cleft lip and palate and mental retardation.doi:10.1093/hmg/ddp480PMID 19843542 GeneCardfor PHF8
RHO 3q21-q24 Rhodopsin Retinitis pigmentosa — GeneCardfor RHO
SDHB 1p36.1-p35 Succinatedehydrogenasecomplex subunit B Pheochromocytoma/Paraganglioma — GeneCardfor SDHB
SDHC 1q21 Succinatedehydrogenasecomplex subunit C Pheochromocytoma/Paraganglioma — GeneCardfor SDHC
SDHD 11q23 Succinatedehydrogenasecomplex subunit D Pheochromocytoma/Paraganglioma — GeneCardfor SDHD
SRY Yp11.3 Testis determining factor / Sex determining region Y Swyer syndrome / Gonadal dysgenesis / Hermaphroditism — GeneCardfor SRY
TSC1 9q34 Hamartin Tuberous sclerosis — GeneCardfor TSC1
TSC2 16p13.3 Tuberin Tuberous sclerosis — GeneCardfor TSC2
MEFV 16p13.3 Pyrin Familial Mediterranean Fever — GeneCardfor MEFV
CDH1

Genes contributing to multifactorial diseases

HUGOSymbol Locus Gene product Associateddisease Notes Genecard
APP 21q21 Amyloid precursor protein Alzheimer’s Disease — GeneCardfor APP
GAST 17q21 Gastrin Zollinger-Ellison syndrome — GeneCardfor GAST
INS 11p15.5 insulin diabetes mellitus —
LCK 1p35-p34.3 Leukocyte-specific protein tyrosine kinase Leukemia — GeneCardfor LCK
LEP 7q31.3 Leptin Obesity — GeneCardfor LEP
LIF 22q12.1-q12.2 Leukemia inhibitory factor Leukemia — GeneCardfor LIF
MCM6 2q21 Minichromosome maintenance deficient 6 lactose intolerance — GeneCardfor MCM6
MYH7 14q12 Myosin, heavy polypeptide 7, cardiac muscle, beta Hypertrophic cardiomyopathy — GeneCardfor MYH7
MYOD1 11p15.4 Myogenic differentiation 1 Rhabdomyosarcoma — GeneCardfor MYOD1
NPPB 1p36.2 Brain Natriuretic Peptide Cardiovascular disease — GeneCardfor NPPB
OSM 22q12.1-q12.2 Oncostatin M Leukemia — GeneCardfor OSM
PKC 16p11.2-q12.1 Paroxysmal kinesogenic choreoathetosis Choreoathetosis — GeneCardfor PKC
PIP 7q32-q36 Prolactin-induced protein Fibrocystic breast disease — GeneCardfor PIP
SLC18A2 10q25 Vesicular Monoamine Transporter Drug induced mood disorders — GeneCardforSLC18A2

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