List of notable genes

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This is a list of notable human genes or genetic variations.

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.

Name Locus Full/Alternate name Associated Disease(s)/other notes Reference
ALB 4q11-q13 albumin -- ALB
APC 5q21-q22 ADENOMATOUS POLYPOSIS OF THE COLON Familial adenomatous polyposis APC
APECED 21q22.3 AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY -- APECED
APP 21q21 Amyloid precursor protein Alzheimer's Disease APP
ASPM 1q31 Abnormal Spindle-like, Microcephaly-associated microcephaly ASPM
Bcl-2 18q21.3 B-CELL CLL/LYMPHOMA 2 -- Bcl-2
BDNF 11p13 Brain-derived neurotrophic factor -- BDNF
BNP 1p36.2 Brain Natriuretic Peptid -- BNP
BRCA1 17q21 Breast Cancer 1 breast cancer BRCA1
BRCA2 13q12-13 Breast Cancer 2 breast cancer BRCA2
CCR5 3p21 - Resistance to Infection CCR5
CD23 19p13.3 - -- CD23
CD34 1q32 - -- CD34
CD4 12pter-p12 - -- CD4
CD8 2p12 - -- CD8
CDK2 12q13 - -- CDK2
CFTR 7q31.2 - Cystic Fibrosis CFTR
CREB 2q32.3-q34 - -- CREB
CRH 8q13 - -- CRH
CXCR4 2q21 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4 -- CXCR4
DAP 5p15.2 - -- DAP
DHFR 5q11.2-q13.2 - -- DHFR
E2F 20q11.2 - -- E2F
FOS 14q24.3 - -- FOS
Fyn 6q21 - -- Fyn
GAS 17q21 - -- GAS
HFE gene 6p21.3 - -- HFE
Id3 1p36.13-p36.12 - -- Id3
IL-2 4q26-q27 Interleukin 2 -- IL2
IL-10 1q31-q32 Interleukin 10 -- IL-10
IL-12 3p12-q13.2; 5q31.1-q33.1 Interleukin 12 -- IL-12
KRT14 17q12-q21 - -- KRT14
KRT5 12q13 - -- KRT5
LAT 16p11.2 - -- LAT
LCK 1p35-p34.3 - -- LCK
LEP 7q31.3 - -- LEP
LIF 22q12.1-q12.2 - -- LIF
MCM6 2q21 minichromosome maintenance deficient 6 lactose intolerance MCM6
MYH7 14q12 myosin Hypertrophic cardiomyopathy MYH7
MyoD 11p15.4 MYOGENIC DIFFERENTIATION ANTIGEN 1 -- MyoD
OSM 22q12.1-q12.2 - -- OSM
PGL2 11q13.1 - -- PGL2
PIP 7q32-q36 - -- PIP
PKC 16p11.2-q12.1 - -- PKC
Zbtb7 (Pokémon gene) 19p13.3 - -- gene Pokémon gene
RHO 3q21-q24 - -- RHO
Rox 17p13.3 - -- Rox
SDHB 1p36.1-p35 - Pheochromocytoma/Paraganglioma SDHB
SDHC 1q21 - -- SDHC
SDHD 11q23 - Paraganglioma SDHD
SRY Yp11.3 Testis determining factor Swyer syndrome SRY
VMAT2 10q25 Vesicular Monoamine Transporter -- VMAT2

[edit] See also

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