anoh-1

Caenorhabditis elegans

Predicted to enable chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to be located in plasma membrane. Expressed in intestine; neurons; and pharyngeal muscle cell. Human ortholog(s) of this gene implicated in several diseases, including Miyoshi muscular dystrophy 3; Moyamoya disease; Scott syndrome; autosomal recessive limb-girdle muscular dystrophy type 2L; and bone disease (multiple). Is an ortholog of human ANO6 (anoctamin 6).

Ano6

Rattus norvegicus

Predicted to enable monoatomic ion channel activity; phospholipid scramblase activity; and protein homodimerization activity. Involved in positive regulation of potassium ion export across plasma membrane. Predicted to be located in cytosol. Predicted to be part of chloride channel complex. Predicted to be active in cholinergic synapse and synaptic membrane. Human ortholog(s) of this gene implicated in Scott syndrome; ankylosing spondylitis; and inflammatory bowel disease. Orthologous to human ANO6 (anoctamin 6); INTERACTS WITH 1-naphthyl isothiocyanate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.

Ano6

Homo sapiens

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

Nherf4

Homo sapiens

Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]

Fgd1

Homo sapiens

This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]