Gene: INPP5D

Alternate names for this Gene: SHIP|SHIP-1|SHIP1|SIP-145|hp51CN|p150Ship

Gene Summary: This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Deficiencies in the encoded protein, SHIP1, have been associated with Inflammatory Bowel Disease types such as Crohn's Disease and Ulcerative Colitis. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: inositol polyphosphate-5-phosphatase D

Type of Gene: protein-coding

rs1057258 in INPP5D gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs10933431 in INPP5D gene and Alzheimer's Disease PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

PMID 24162737 2013 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

rs1057258 in INPP5D gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs76999017 in INPP5D gene and Chronic Obstructive Airway Disease PMID 26503814 2016 A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.

rs4246649 in INPP5D gene and Contrast Sensitivity PMID 24152035 2014 Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.

rs9247 in INPP5D gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057258 in INPP5D gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6708049 in INPP5D gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.