1.A.1.2.23
Voltage-gated potassium channel subunit Kv8.2, KCNC2, of 545 aas and 6 TMSs. Mutation causes central ellipsoid loss which involves cone dystrophy with supernormal rod electroretinogram. It is a monogenic disease due to KCNV2 gene mutations that affect KCNC2 channel function in rod and cone photoreceptors (Xu et al. 2017).
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| Accession Number: | Q8TDN2 |
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| Protein Name: | Potassium voltage-gated channel subfamily V member 2 |
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| Length: | 545 |
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| Molecular Weight: | 62459.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 7 |
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| Location1 / Topology2 / Orientation3: |
Cell membrane1 / Multi-pass membrane protein2 |
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| Substrate |
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1: MLKQSERRRS WSYRPWNTTE NEGSQHRRSI CSLGARSGSQ ASIHGWTEGN YNYYIEEDED
61: GEEEDQWKDD LAEEDQQAGE VTTAKPEGPS DPPALLSTLN VNVGGHSYQL DYCELAGFPK
121: TRLGRLATST SRSRQLSLCD DYEEQTDEYF FDRDPAVFQL VYNFYLSGVL LVLDGLCPRR
181: FLEELGYWGV RLKYTPRCCR ICFEERRDEL SERLKIQHEL RAQAQVEEAE ELFRDMRFYG
241: PQRRRLWNLM EKPFSSVAAK AIGVASSTFV LVSVVALALN TVEEMQQHSG QGEGGPDLRP
301: ILEHVEMLCM GFFTLEYLLR LASTPDLRRF ARSALNLVDL VAILPLYLQL LLECFTGEGH
361: QRGQTVGSVG KVGQVLRVMR LMRIFRILKL ARHSTGLRAF GFTLRQCYQQ VGCLLLFIAM
421: GIFTFSAAVY SVEHDVPSTN FTTIPHSWWW AAVSISTVGY GDMYPETHLG RFFAFLCIAF
481: GIILNGMPIS ILYNKFSDYY SKLKAYEYTT IRRERGEVNF MQRARKKIAE CLLGSNPQLT
541: PRQEN