Gene: PLEKHA1
Alternate names for this Gene: TAPP1
Gene Summary: This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.
Gene is located in Chromosome: 10
Location in Chromosome : 10q26.13
Description of this Gene: pleckstrin homology domain containing A1
Type of Gene: protein-coding
rs7088058 in
PLEKHA1 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs7088058 in
PLEKHA1 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs7088058 in
PLEKHA1 gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1045216 in
PLEKHA1 gene and
Age related macular degeneration
PMID 23326517 2013 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
PMID 23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
rs2280141 in
PLEKHA1 gene and
Autoimmune Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2292626 in
PLEKHA1 gene and
Birth Weight
PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.
rs2280141 in
PLEKHA1 gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
rs10510110 in
PLEKHA1 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
PMID 28566273 2017 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.
PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
rs78438709 in
PLEKHA1 gene and
Headache
PMID 29397368 2018 A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773).
rs3850765 in
PLEKHA1 gene and
Hypothyroidism
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2280141 in
PLEKHA1 gene and
Immune System Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs11200607 in
PLEKHA1 gene and
Lean body mass
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
rs4752693 in
PLEKHA1 gene and
Systolic Pressure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.