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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9NR82 |
| Protein name |
Potassium voltage-gated channel subfamily KQT member 5 (KQT-like 5) (Potassium channel subunit alpha KvLQT5) (Voltage-gated potassium channel subunit Kv7.5) |
| Protein function |
Pore-forming subunit of the voltage-gated potassium (Kv) channel broadly expressed in brain and involved in the regulation of neuronal excitability (PubMed:10787416, PubMed:10816588, PubMed:11159685, PubMed:28669405). Associates with KCNQ3/Kv7.3 |
| PDB |
6B8Q
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00520 |
Ion_trans |
125 → 358 |
Ion transport protein |
Family |
| PF03520 |
KCNQ_channel |
447 → 634 |
KCNQ voltage-gated potassium channel |
Family |
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| Tissue specificity |
TISSUE SPECIFICITY: Strongly expressed in brain and skeletal muscle (PubMed:10787416, PubMed:10816588). In brain, expressed in cerebral cortex, occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable le |
| Sequence |
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| Sequence length |
932 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Global developmental delay |
Likely pathogenic |
rs1554210415 |
RCV001255392 |
| Intellectual disability, autosomal dominant 46 |
Pathogenic; Likely pathogenic |
rs2150391860, rs530101249, rs1771729432, rs1765561142, rs2481569360, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554210418, rs1554201137, rs1775232605, rs1776322078, rs2533593552 |
RCV002210922 RCV003224776 RCV003225630 RCV003592388 RCV004515769 RCV000496965 RCV000496963 RCV000496964 RCV000496966 RCV006249658 RCV001336257 RCV000987738 RCV001252273 RCV001264730 RCV001270415 |
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| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs45536838 |
RCV005921130 |
| Cleft palate |
Conflicting classifications of pathogenicity |
rs549110435 |
RCV005623395 |
| Hereditary ataxia |
Likely benign |
rs201200702 |
RCV005626548 |
| Intellectual disability |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs1167542831, rs549110435, rs191331629, rs771263285 |
RCV005626881 RCV001252271 RCV001252272 RCV001257745 |
| KCNQ5-related disorder |
Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance |
rs143322043, rs777386945, rs76981234, rs34821312, rs201200702, rs148860877, rs141761357, rs146335187, rs753118346, rs1265096046, rs201137532, rs17810318, rs374752116, rs568022266, rs778905319, rs150254819, rs149548711, rs188281850, rs906151575, rs1421278780, rs2481569044, rs2533932136, rs1464713928, rs2533670671, rs1248428433, rs1765738048, rs769303139, rs2533931992, rs758999586, rs142867844, rs781623551, rs191331629 View all (17 more) |
RCV003963210 RCV003938640 RCV003931068 RCV003980828 RCV003968632 RCV003923792 RCV003951238 RCV003950994 RCV003971011 RCV004744295 RCV003941266 RCV003984237 RCV003978522 RCV003960881 RCV004744307 RCV003941349 RCV003913514 RCV003941284 RCV003410326 RCV003399475 RCV003420757 RCV003412405 RCV003410863 RCV003421103 RCV003919265 RCV003892328 RCV003914081 RCV003951930 RCV004743199 RCV003913095 RCV003902997 RCV003938586 |
| Melanoma |
Benign; Likely benign |
rs139236005 |
RCV005922665 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs45536838 |
RCV005921131 |
| Prostate cancer |
Benign; Likely benign |
rs148543637 |
RCV000149263 |
| Thymoma |
Benign |
rs45536838 |
RCV005921132 |
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