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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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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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PMC24571P1 |
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PMC20269P1 |
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The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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. |
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 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: |
RefSeq Acc Id: | NP_037103 ⟸ NM_012971 |
- 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 |
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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, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000006524 | ENTREZGENE, 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 |