HOXA9 is a transcription factor with a central role in both haemopoiesis and leukaemia. High levels of HOXA9 expression in haemopoietic cells is a characteristic feature of acute myeloid leukaemia (AML), and may be sufficient to cause this disease. Overexpression of Hoxa 9 markedly expands hematopoietic stem cells. HOXA9 expression changes dramatically with age - a uniformly low level of expression during early adulthood is replaced by a frequently very high expression in adults over sixty.

NPR2 encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand binding domain, a single membrane spanning region, and intracellularly a protein kinase homology domain), a helical hinge region involved in oligomerization, and a carboxyl terminal guanylyl cyclase catalytic domain. NPR2 is the primary receptor for C type natriuretic peptide (CNP), which upon ligand binding

HOXA5 upregulates both p53 promoter-reporter constructs and endogenous p53 synthesis, leading to apoptosis. HOXA5 is detectable in approximately one-third of primary tumors. Lack of HOXA5 expression strongly correlates with methylation of its promoter region, suggesting a causal role for methylation in the silencing of HOXA5 gene expression. HOXA5 expression is an important step in tumorigenesis and loss of expression of p53 in human breast cancer may be primarily due to lack of expression of

This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting

ETV6 is the prototype member of a family of genes identified on the basis of homology to the v-Ets oncogene isolated from the E26 erythroblastosis virus. Members of the Ets gene family exhibit varied patterns of tissue expression and share a highly conserved carboxy terminal domain containing a sequence related to the SV40 large T antigen nuclear localization signal sequence. This conserved domain is essential for Ets-1 binding to DNA and is likely to be responsible for the DNA binding activi

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]