JP

Drosophila melanogaster

junctophilin (jp) belongs to a gene family encoding proteins anchored to the endoplasmic reticulum through a transmembrane region. The product of jp contributes to the formation and maintenance of junctional membrane complexes. It serves as a physical bridge between the plasma membrane and the endoplasmic reticulum in excitable cells, allowing the functional crosstalk between ion channels. It is necessary for calcium signalling in muscle contraction and neuronal communication.

Med12

Rattus norvegicus

Contributes to ubiquitin protein ligase activity. Involved in protein ubiquitination. Part of ubiquitin ligase complex. Human ortholog(s) of this gene implicated in FG syndrome; leiomyosarcoma; major depressive disorder; phobic disorder; and syndromic X-linked intellectual disorder Lujan-Fryns-type. Orthologous to human MED12 (mediator complex subunit 12); PARTICIPATES IN RNA polymerase II transcription pathway; INTERACTS WITH 6-propyl-2-thiouracil; amitrole; amphetamine.

Med12

Homo sapiens

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]