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DISEASES
The following proteins in
Homo sapiens
appear to match your input.
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1) '9606.ENSP00000494017':
SLC26A4 - Pendrin; Sodium-independent transporter of chloride and iodide. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
[a.k.a. ENSP00000441209, ENST00000644846, ENSP00000494017]
2) '9606.ENSP00000372295':
GJB2 - Gap junction beta-2 protein; Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore.
[a.k.a. AY275650, XP_011533351.1, MH234118]
3) '9606.ENSP00000304286':
FOXI1 - Forkhead box protein I1; Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity).
[a.k.a. ADN03280.1, GU049167, ENSP00000304286]
4) '9606.ENSP00000362464':
GJB3 - Gap junction beta-3 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
[a.k.a. O75712, AJ004856, NM_001005752.2]
5) '9606.MT-RNR1':
- - Sorry, STRING found no proteins by this name in Homo sapiens - -
6) '9606.ENSP00000495557':
KCNJ10 - ATP-sensitive inward rectifier potassium channel 10; May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellu [...]
[a.k.a. KCNJ10-209, KCNJ10-208, ENSG00000177807]
7) '9606.ENSP00000495996':
POU3F4 - POU domain, class 3, transcription factor 4; Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain.
[a.k.a. 5456, BRAIN-4, DFNX2]
8) '9606.ENSP00000494468':
GJB6 - Gap junction beta-6 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Beta-type (group I) subfamily.
[a.k.a. AK075247, XP_016875848.1, GJB6-206]
9) '9606.ENSP00000272371':
OTOF - Otoferlin; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity).
[a.k.a. NM_194323.2, HPA012410, NM_001287489]
10) '9606.ENSP00000224721':
CDH23 - Cadherin-23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
[a.k.a. ENSP00000495222, ENST00000398788.4, ENST00000398809.8]
