Rbm20

Mus musculus

PHENOTYPE: Mice homozygous for an allele lacking the RNA recognition motif exhibit increased titin compliance, and attenuated Frank-Starling mechanism. [provided by MGI curators]

qsm

Drosophila melanogaster

quasimodo (qsm) encodes a light-responsive factor of the circadian clock. It controls the rhythmic firing of clock neurons via the K+ channel and the Na+ K+ Cl- cotransporter encoded by Shaw and NKCC respectively.

egl-36

Caenorhabditis elegans

Enables voltage-gated monoatomic ion channel activity. Involved in monoatomic ion transmembrane transport. Predicted to be located in somatodendritic compartment and synapse. Predicted to be part of voltage-gated potassium channel complex. Expressed in head muscle; hermaphrodite distal tip cell; neurons; non-striated muscle; and spermatheca. Human ortholog(s) of this gene implicated in Alzheimer's disease; electroclinical syndrome (multiple); and glioblastoma. Is an ortholog of human KCNC1 (potassium voltage-gated channel subfamily C member 1); KCNC2 (potassium voltage-gated channel subfamily C member 2); and KCNC4 (potassium voltage-gated channel subfamily C member 4).

Shaw

Drosophila melanogaster

Shaker cognate w (Shaw) encodes a voltage-gated potassium channel (Kv3.1) that mediates a non-inactivating potassium current open at resting membrane potential. It is important for controlling excitability of motor neurons and clock neurons. It regulates circadian rhythms and is in a pathway with the product of qsm and Na[+] K[+] Ca[2+] Co-transporter.

Sh3pxd2b

Rattus norvegicus

Predicted to enable SH2 domain binding activity and phosphatidylinositol phosphate binding activity. Predicted to be involved in several processes, including osteoblast fate commitment; podosome assembly; and skeletal system development. Predicted to be located in cytoplasm and podosome. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. Orthologous to human SH3PXD2B (SH3 and PX domains 2B); INTERACTS WITH (+)-schisandrin B; 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol.

Sh3pxd2b

Homo sapiens

This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Kcnc3

Homo sapiens

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]

Kcnc4

Homo sapiens

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

Kcnc2

Homo sapiens

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Kcnb1

Homo sapiens

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]