PITPNM3, Official Symbol PITPNM3provided by HGNC Official Full Name PITPNM family member 3provided by HGNC Primary source HGNC:HGNC:21043 See related Ensembl:ENSG00000091622 MIM:608921; AllianceGenome:HGNC:21043 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NIR1; ACKR6; CORD5; RDGBA3 Summary This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Biased expression in spleen (RPKM 27.1), ovary (RPKM 12.0) and 6 other tissues See more Orthologs mouse all