Version 5.4
| Homo sapiens Protein: KCNV2 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-45137.5 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | KCNV2 | ||||||||||||||||||
| Protein Name | potassium channel, subfamily V, member 2 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000371514 | ||||||||||||||||||
| InnateDB Gene | IDBG-45135 (KCNV2) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values. | ||||||||||||||||||
| Subcellular Localization | Cell membrane; Multi-pass membrane protein. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1. | ||||||||||||||||||
| Disease Associations | Cone dystrophy retinal 3B (RCD3B) [MIM:610356]: A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. {ECO:0000269PubMed:16909397}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon. {ECO:0000269PubMed:12060745}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR003091
Potassium channel IPR003131 Potassium channel tetramerisation-type BTB domain IPR003968 Potassium channel, voltage dependent, Kv IPR003971 Potassium channel, voltage dependent, Kv9 IPR003974 Potassium channel, voltage dependent, Kv3 IPR005821 Ion transport domain IPR011333 BTB/POZ fold IPR013099 Two pore domain potassium channel domain |
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| PFAM |
PF02214
PF00520 PF07885 |
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| PRINTS |
PR00169
PR01491 PR01494 PR01498 |
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| PIRSF | |||||||||||||||||||
| SMART | |||||||||||||||||||
| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q8TDN2 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q8TDN2 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 169522 | ||||||||||||||||||
| UniGene | Hs.622675 | ||||||||||||||||||
| RefSeq | NP_598004 | ||||||||||||||||||
| HUGO | HGNC:19698 | ||||||||||||||||||
| OMIM | 607604 | ||||||||||||||||||
| CCDS | CCDS6447 | ||||||||||||||||||
| HPRD | 12126 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF348983 AL354723 BC101352 BC101353 | ||||||||||||||||||
| GenPept | AAI01353 AAI01354 AAL83910 CAI15124 | ||||||||||||||||||