Table 3.
Ion channels and pumps proteins implicated in patterning by genetic screens
| Protein | Morphogenetic role or LOF phenotype | Species | References |
|---|---|---|---|
| TRH1 K+ transporter | Root hair patterning | Arabidopsis | [249] |
| Kir2.1 potassium channel | Wing patterning | Drosophila | [250] |
| Kir7.1 K+ channel | Craniofacial patterning, lung development | Mouse | [251] |
| NHE2 Na+/H+ exchanger | Epithelial patterning | Drosophila | [252] |
| V-ATPase proton pump | Wing hair patterning, Pigmentation and brain patterning Craniofacial patterning |
Drosophila Medaka, Human |
[253, 254] [255] |
| HCN1, Kv3.1 K+ channels | Forebrain patterning | Mouse | [256, 257] |
| KCNC1 K+ channel | Growth deficits | Mouse | [256] |
| TWIK-1 K+ channel (KCNK1) | Cardiac (atrial) size | Mouse | [258] |
| KCNJ6 K+channel | Keppen-Lubinsky syndrome –craniofacial and brain | Human | [96] |
| KCNH1 (hEAG1) K+ channel and ATP6V1B2 V- ATPase proton pump | Zimmermman-Laband and Temple-Baraitser syndrome –craniofacial and brain defects, dysplasia/aplasia of nails of thumb and great toe. | Human | [259, 260] |
| GLRa4 chloride channel | Craniofacial anomalies | Human | [261] |
| KCNA1 potassium channel | Megencephaly | Mouse | [262] |
| NCX-9 (Na+/Ca++) exchanger | Neural patterning | C. Elegans | [263] |
| GLRa4 chloride channel | Craniofacial anomalies | Human | [261] |
| KCNJ8 K+ | Cantu syndrome – face, heart, skeleton, and brain defects | Human | [264–266] |
| NALCN (Na+ leak channel) | Freeman-Sheldon syndrome – limbs, face, brain | Human | [267] |
| CFTR chloride channel | Bilateral absence of vas deferens | Human | [268, 269] |
| KCNK9, TASK3 K+ channels | Birk-Barel Dysmorphism Syndrome – craniofacial defects | Human | [270, 271] |
| Kir6.2 K+ channel | Craniofacial defects | Human | [272] |
| KCNQ1 K+ channel (via epigenetic regulation) | Hypertrophy of tongue, liver, spleen, pancreas, kidneys, adrenals, genitalia – Beckwith- Wiedemann syndrome; craniofacial and limb defects | Human, Mouse | [273–275] |
| KCNQ1 K+ channel | Jervell and Lange-Nielsen syndrome - inner ear and limb | Human, mouse | [276–278] |
| Kir2.1 K+ channel (KNCJ2) | Andersen-Tawil syndrome – craniofacial, limb, ribs | Human, mouse | [250, 279, 280] |
| GABA-A receptor (chloride channel) | Angelman Syndrome -craniofacial (e.g., cleft palate) and hand patterning | Human, mouse | [281–283] |
| TMEM16A chloride channel | Tracheal morphogenesis | Mouse | [284] |
| Girk2 K+ channel | Cerebellar development defects | Mouse | [285–288] |
| KCNH2 K+ channel | Cardiac, craniofacial patterning defects | Mouse | [289] |
| KCNQ1 K+ channel | Abnormalities of rectum, pancreas, and stomach | Mouse | [290] |
| NaV1.2 | Muscle and nerve repair defects | Xenopus | [94] |
| Kir6.1 K+ channel | Eye patterning defects | Xenopus | [248] |
| V-ATPase ion pump | Left-right asymmetry defects, muscle and nerve repair | Xenopus, chick, zebrafish | [237, 291] |
| H,K-ATPase ion pump | Left-right asymmetry defects | Xenopus, sea urchin | [90, 292, 293] |
| Kir7.1 K+ channel | Melanosome development defects | Zebrafish | [294] |
| Kv channels | Fin size regulation, heart size regulation | Zebrafish, mouse | [92, 295] |
| NaV 1.5, Na+/K+-ATPase | Cardiac morphogenesis | Zebrafish | [296, 297] |