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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum | | ISO | RGD:731771 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum | | ISO | RGD:731771 | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | KCNE1 and KCNE2 inhibit forward trafficking of homomeric N-type voltage-gated potassium channels. | Kanda VA, etal., Biophys J. 2011 Sep 21;101(6):1354-63. doi: 10.1016/j.bpj.2011.08.015. Epub 2011 Sep 20. |
4. | KCNE1 and KCNE2 provide a checkpoint governing voltage-gated potassium channel a-subunit composition. | Kanda VA, etal., Biophys J. 2011 Sep 21;101(6):1364-75. doi: 10.1016/j.bpj.2011.08.014. Epub 2011 Sep 20. |
5. | Clustering of Shaker-type K+ channels by interaction with a family of membrane-associated guanylate kinases. | Kim E, etal., Nature. 1995 Nov 2;378(6552):85-8. |
6. | Immunohistochemical localization of the voltage-gated potassium channel subunit Kv1.4 in the central nervous system of the adult rat. | Luján R, etal., J Chem Neuroanat. 2003 Nov;26(3):209-24. |
7. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
8. | Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. | Naisbitt S, etal., Neuron 1999 Jul;23(3):569-82. |
9. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
10. | Altered K(+) channel gene expression in diabetic rat ventricle: isoform switching between Kv4.2 and Kv1.4. | Nishiyama A, etal., Am J Physiol Heart Circ Physiol 2001 Oct;281(4):H1800-7. |
11. | GOA pipeline | RGD automated data pipeline |
12. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
13. | Association and colocalization of the Kvbeta1 and Kvbeta2 beta-subunits with Kv1 alpha-subunits in mammalian brain K+ channel complexes. | Rhodes KJ, etal., J Neurosci. 1997 Nov 1;17(21):8246-58. |
14. | The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. | Schulte U, etal., Neuron. 2006 Mar 2;49(5):697-706. |
15. | Presynaptic A-current based on heteromultimeric K+ channels detected in vivo. | Sheng M, etal., Nature. 1993 Sep 2;365(6441):72-5. |
16. | Molecular basis of functional diversity of voltage-gated potassium channels in mammalian brain. | Stuhmer W, etal., EMBO J 1989 Nov;8(11):3235-44. |
17. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
18. | Molecular cloning and functional expression of a potassium channel cDNA isolated from a rat cardiac library. | Tseng-Crank JC, etal., FEBS Lett 1990 Jul 30;268(1):63-8. |
19. | Regional contributions of Kv1.4, Kv4.2, and Kv4.3 to transient outward K+ current in rat ventricle. | Wickenden AD, etal., Am J Physiol 1999 May;276(5 Pt 2):H1599-607. |
PMID:8495559 | PMID:8601796 | PMID:9000078 | PMID:9581762 | PMID:11988171 | PMID:12590144 | PMID:14688283 | PMID:15207333 | PMID:15454398 | PMID:15885224 | PMID:16000151 | PMID:16207878 |
PMID:17359997 | PMID:17584507 | PMID:18603586 | PMID:19029372 | PMID:19279288 | PMID:19453640 | PMID:19888682 | PMID:19912772 | PMID:21352098 | PMID:21451062 | PMID:22871113 | PMID:23413915 |
PMID:24082096 | PMID:24423395 | PMID:28054303 | PMID:31487241 |
Kcna4 (Rattus norvegicus - Norway rat) |
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KCNA4 (Homo sapiens - human) |
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Kcna4 (Mus musculus - house mouse) |
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Kcna4 (Chinchilla lanigera - long-tailed chinchilla) |
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KCNA4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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KCNA4 (Canis lupus familiaris - dog) |
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Kcna4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KCNA4 (Sus scrofa - pig) |
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KCNA4 (Chlorocebus sabaeus - green monkey) |
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Kcna4 (Heterocephalus glaber - naked mole-rat) |
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Variants in Kcna4
53 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
PMC24571P1 |
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PMC20269P1 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 2 | 21 | |||||||||||
Low | 41 | 1 | 43 | 16 | 14 | 1 | |||||||
Below cutoff | 1 | 22 | 10 | 6 | 10 | 6 | 6 | 8 | 18 | 18 | 9 | 6 |
RefSeq Transcripts | NM_012971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006234673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006234674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591493 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JACYVU010000118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M32867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000006524 ⟹ ENSRNOP00000006524 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_012971 ⟹ NP_037103 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006234673 ⟹ XP_006234735 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006234674 ⟹ XP_006234736 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_037103 | (Get FASTA) | NCBI Sequence Viewer |
XP_006234735 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006234736 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA41469 | (Get FASTA) | NCBI Sequence Viewer |
EDL79747 | (Get FASTA) | NCBI Sequence Viewer | |
P15385 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_037103 ⟸ NM_012971 |
- UniProtKB: | G3V6L7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006234735 ⟸ XM_006234673 |
- Peptide Label: | isoform X1 |
- UniProtKB: | G3V6L7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006234736 ⟸ XM_006234674 |
- Peptide Label: | isoform X1 |
- UniProtKB: | G3V6L7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000006524 ⟸ ENSRNOT00000006524 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P15385-F1-model_v2 | AlphaFold | P15385 | 1-655 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:2952 | AgrOrtholog |
BioCyc Gene | G2FUF-48501 | BioCyc |
Ensembl Genes | ENSRNOG00000004918 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000006524 | ENTREZGENE |
ENSRNOP00000006524.4 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000006524 | ENTREZGENE |
ENSRNOT00000006524.6 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.120.350 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.5.600 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.30.710.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | BTB/POZ_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ion_trans_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_chnl_volt-dep_Kv | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_chnl_volt-dep_Kv1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_chnl_volt-dep_Kv1.4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_chnl_volt-dep_Kv1.4_TID | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_chnl_volt-dep_Kv1.4_TID_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SKP1/BTB/POZ_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
T1-type_BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
VG_K_chnl | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Volt_channel_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:25469 | UniProtKB/Swiss-Prot |
NCBI Gene | 25469 | ENTREZGENE |
PANTHER | PTHR11537 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | BTB_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ion_trans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_channel_TID | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Kcna4 | PhenoGen |
PRINTS | KV14CHANNEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KVCHANNEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SHAKERCHANEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF54695 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TIGR | TC209532 | |
UniProt | G3V6L7 | ENTREZGENE, UniProtKB/TrEMBL |
KCNA4_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-11 | Kcna4 | potassium voltage-gated channel subfamily A member 4 | Kcna4 | potassium channel, voltage gated shaker related subfamily A, member 4 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2015-01-26 | Kcna4 | potassium channel, voltage gated shaker related subfamily A, member 4 | Kcna4 | potassium voltage-gated channel, shaker-related subfamily, member 4 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-09-10 | Kcna4 | potassium voltage-gated channel, shaker-related subfamily, member 4 | potassium voltage gated channel, shaker related subfamily, member 4 | Name updated | 1299863 | APPROVED | |
2002-06-10 | Kcna4 | potassium voltage gated channel, shaker related subfamily, member 4 | Name updated | 70584 | APPROVED |
Note Type | Note | Reference |
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gene_disease | increased expression observed in diabetes mellitus | 69869 |
gene_disease | increased expression observed in diabetes mellitus | 628458 |
gene_disease | increased expression observed in diabetes mellitus | 628470 |
gene_domains | has a segment which maybe involved in voltage sensing and another one involved in gating, has an unusual amino terminus about 140 residues longer than other members of the family | 69869 |
gene_domains | has a segment which maybe involved in voltage sensing and another one involved in gating, has an unusual amino terminus about 140 residues longer than other members of the family | 628458 |
gene_domains | has a segment which maybe involved in voltage sensing and another one involved in gating, has an unusual amino terminus about 140 residues longer than other members of the family | 628470 |
gene_expression | mRNA expressed in the adult rat ventricle and also in the brain | 69869 |
gene_expression | mRNA expressed in the adult rat ventricle and also in the brain | 628458 |
gene_expression | mRNA expressed in the adult rat ventricle and also in the brain | 628470 |
gene_function | forms voltage-gated outward current during repolarization in cardiac myocytes | 69869 |
gene_other | channel formed creates a 4-aminopyridine (4-AP)-sensitive transient outward current | 69869 |
gene_process | in the left ventricle the mRNA level displays transmural gradient of the voltage-gated transient outward current density which impacts on cardiac functions such as contractility and impulse conduction | 69869 |
gene_process | in the left ventricle the mRNA level displays transmural gradient of the voltage-gated transient outward current density which impacts on cardiac functions such as contractility and impulse conduction | 628458 |
gene_process | in the left ventricle the mRNA level displays transmural gradient of the voltage-gated transient outward current density which impacts on cardiac functions such as contractility and impulse conduction | 628470 |
gene_process | contributes to the calcium independent voltage-gated transient outward current density in the right wall and septum of the ventricle | 69869 |
gene_process | contributes to the calcium independent voltage-gated transient outward current density in the right wall and septum of the ventricle | 628458 |
gene_process | contributes to the calcium independent voltage-gated transient outward current density in the right wall and septum of the ventricle | 628470 |
gene_protein | 654 amino acid in size | 69869 |
gene_protein | 654 amino acid in size | 628458 |
gene_protein | 654 amino acid in size | 628470 |
gene_regulation | increased expression level observed in hypertensive rats whereas the level of Kcnd2 and Kcnd3 was decreased | 69869 |
gene_regulation | increased expression level observed in hypertensive rats whereas the level of Kcnd2 and Kcnd3 was decreased | 628458 |
gene_regulation | increased expression level observed in hypertensive rats whereas the level of Kcnd2 and Kcnd3 was decreased | 628470 |