Gene: RPS6KA2
Alternate names for this Gene: HU-2|MAPKAPK1C|RSK|RSK3|S6K-alpha|S6K-alpha2|p90-RSK3|p90RSK2|pp90RSK3
Gene Summary: This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized.
Gene is located in Chromosome: 6
Location in Chromosome : 6q27
Description of this Gene: ribosomal protein S6 kinase A2
Type of Gene: protein-coding
rs718084 in
RPS6KA2 gene and
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.
rs718084 in
RPS6KA2 gene and
AIDS, PROGRESSION TO
PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.
rs10455979 in
RPS6KA2 gene and
Bipolar Disorder
PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.
rs635808 in
RPS6KA2 gene and
Dental caries
PMID 23259602 2012 Genome-wide association scan of dental caries in the permanent dentition.
rs960145 in
RPS6KA2 gene and
Depressed bipolar I disorder
PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.
rs718084 in
RPS6KA2 gene and
HIV-1, RESISTANCE TO
PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.
rs718084 in
RPS6KA2 gene and
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.
rs10946164 in
RPS6KA2 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs4710117 in
RPS6KA2 gene and
Systolic Pressure
PMID 25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.
rs718084 in
RPS6KA2 gene and
Viral Load result
PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.