Aliases for KCND3 Gene
Aliases for KCND3 Gene
- Potassium Voltage-Gated Channel Subfamily D Member 3 2 3 3 5
- Potassium Voltage-Gated Channel, Shal-Related Subfamily, Member 3 2 3
- Voltage-Gated Potassium Channel Subunit Kv4.3 3 4
- Potassium Channel, Voltage Gated Shal Related Subfamily D, Member 3 3
- Potassium Voltage-Gated Channel Long 3
- Sha1-Related Potassium Channel Kv4.3 3
- Potassium Ionic Channel Kv4.3 3
- Spinocerebellar Ataxia 22 2
- Spinocerebellar Ataxia 19 2
External Ids for KCND3 Gene
- HGNC: 6239
- Entrez Gene: 3752
- Ensembl: ENSG00000171385
- OMIM: 605411
- UniProtKB: Q9UK17
Previous HGNC Symbols for KCND3 Gene
- SCA22
- SCA19
Previous GeneCards Identifiers for KCND3 Gene
- GC01M112734
- GC01M111189
- GC01M111420
- GC01M111617
- GC01M112030
- GC01M112114
- GC01M112313
- GC01M110189
Summaries for KCND3 Gene
-
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCND3 Gene
KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3) is a Protein Coding gene. Diseases associated with KCND3 include Spinocerebellar Ataxia 19 and Brugada Syndrome 9. Among its related pathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCND2.
UniProtKB/Swiss-Prot for KCND3 Gene
-
Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.
-
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.
Additional gene information for KCND3 Gene
- Monarch Initiative
- Search for KCND3 at DataMed
- Search for KCND3 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCND3 Gene
Genomics for KCND3 Gene
GeneHancer (GH) Regulatory Elements for KCND3 Gene
Promoters and enhancers for KCND3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KCND3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KCND3 gene promoter:
-
- deltaCREB
- CREB
- Pax-5
- E2F-4
- E2F-3a
- E2F-2
- E2F-1
- E2F
Regulatory Element Products
Genomic Locations for KCND3 Gene
Genomic Locations for KCND3 Gene
- chr1:111,770,662-111,989,576
- (GRCh38/hg38)
- Size:
- 218,915 bases
- Orientation:
- Minus strand
- chr1:112,313,284-112,531,777
- (GRCh37/hg19)
- Size:
- 218,494 bases
- Orientation:
- Minus strand
Genomic View for KCND3 Gene
Genes around KCND3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p13.2 by Entrez Gene
- 1p13.2 by HGNC
- 1p13.2 by Ensembl
KCND3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KCND3 Gene
Proteins for KCND3 Gene
-
Protein details for KCND3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UK17-KCND3_HUMAN
- Recommended name:
- Potassium voltage-gated channel subfamily D member 3
- Protein Accession:
- Q9UK17
- O60576
- O60577
- Q14D71
- Q5T0M0
- Q9UH85
- Q9UH86
- Q9UK16
Protein attributes for KCND3 Gene
- Size:
- 655 amino acids
- Molecular mass:
- 73451 Da
- Quaternary structure:
-
- Homotetramer or heterotetramer with KCND1 and/or KCND2. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with KCNE1, KCNE2, SCN1B and KCNAB1 and DLG1.
Protein Expression for KCND3 Gene
Post-translational modifications for KCND3 Gene
- Regulated through phosphorylation at Ser-569 by CaMK2D.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for KCND3 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for KCND3
- Novus Biologicals Antibodies for KCND3
- Invitrogen Antibodies for KCND3
- GeneTex KCND3 Antibody for KCND3
-
Boster Bio Antibodies for KCND3
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCND3
Protein Products
-
OriGene Purified Proteins for KCND3
- Search Origene for MassSpec and Protein Over-expression Lysates for KCND3
- Origene Custom Protein Services for KCND3
- antibodies-online: Search results for 6 available KCND3 Proteins ranked by validation data
- Compare Top KCND3 Proteins
-
Quality Products:
- Search GeneTex for Proteins for KCND3
Assay Products
- antibodies-online: Search results for 1 available KCND3 Elisa Kits ranked by validation data
- Compare Top KCND3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for KCND3 Gene
Domains & Families for KCND3 Gene
Gene Families for KCND3 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
- Transporters
- Voltage-gated ion channels
Protein Domains for KCND3 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KCND3 Gene
- GenScript: Design optimal peptide antigens:
-
- Potassium voltage-gated channel long splice variant 1 (A6QL42_HUMAN)
- Potassium voltage-gated channel, Shal-related subfamily, member 3 (B7ZKV0_HUMAN)
- Voltage-gated potassium channel subunit Kv4.3 (KCND3_HUMAN)
- Potassium voltage-gated channel, Shal-related subfamily, member 3, isoform CRA_b (Q14D71_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UK17UniProtKB/Swiss-Prot:
KCND3_HUMAN :- The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
- Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily.
- Domain:
-
- The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
- Family:
-
- Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily.
Function for KCND3 Gene
Molecular function for KCND3 Gene
- UniProtKB/Swiss-Prot Function:
- Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.
- GENATLAS Biochemistry:
- potassium voltage-gated channel,Shal-related family member 3,expressed in the cerebral cortex (mouse Kv8.1 homolog),inhibiting expression of Shaw channels
Phenotypes From GWAS Catalog for KCND3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005249 | voltage-gated potassium channel activity | IBA,IEA | -- |
| GO:0005250 | contributes_to A-type (transient outward) potassium channel activity | TAS,IDA | 21349352 |
| GO:0005267 | potassium channel activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 17187064 |
Phenotypes for KCND3 Gene
- MGI mutant phenotypes for KCND3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KCND3:
Animal Models for KCND3 Gene
- MGI Knock Outs for KCND3:
-
- Kcnd3 Kcnd3<tm1Dgen>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KCND3
-
CRISPR Products
-
OriGene CRISPR knockouts for KCND3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCND3
- genomics-online: gRNA clones - Search results for available KCND3 gene related products
- Applied Biological Materials CRISPR for KCND3
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCND3
- GenScript: Design CRISPR guide RNA sequences for KCND3
miRNA for KCND3 Gene
- miRTarBase miRNAs that target KCND3
-
- hsa-mir-142-3p (MIRT021549)
- hsa-mir-449c-5p (MIRT035756)
- hsa-mir-16-5p (MIRT051143)
- hsa-mir-1304-5p (MIRT474970)
- hsa-mir-765 (MIRT474971)
- hsa-mir-6124 (MIRT474972)
- hsa-mir-548v (MIRT474973)
- hsa-mir-8082 (MIRT474974)
- hsa-mir-4534 (MIRT474975)
- hsa-mir-3605-5p (MIRT474976)
- hsa-mir-139-5p (MIRT474977)
- hsa-mir-2392 (MIRT474978)
- hsa-mir-4802-5p (MIRT474979)
- hsa-mir-335-3p (MIRT625921)
- hsa-mir-376b-3p (MIRT625922)
- hsa-mir-376a-3p (MIRT625923)
- hsa-mir-609 (MIRT625924)
- hsa-mir-5089-5p (MIRT702516)
- hsa-mir-5589-5p (MIRT702517)
- hsa-mir-4731-5p (MIRT702518)
- hsa-mir-26b-3p (MIRT702519)
- hsa-mir-6506-5p (MIRT702520)
- hsa-mir-619-5p (MIRT702521)
- hsa-mir-4638-5p (MIRT702522)
- hsa-mir-186-3p (MIRT702523)
- hsa-mir-1306-5p (MIRT702524)
- hsa-mir-520h (MIRT702525)
- hsa-mir-520g-3p (MIRT702526)
- hsa-mir-6504-3p (MIRT702527)
- hsa-mir-512-3p (MIRT702528)
- hsa-mir-520e (MIRT702529)
- hsa-mir-520d-3p (MIRT702530)
- hsa-mir-520c-3p (MIRT702531)
- hsa-mir-520b (MIRT702532)
- hsa-mir-520a-3p (MIRT702533)
- hsa-mir-373-3p (MIRT702534)
- hsa-mir-372-3p (MIRT702535)
- hsa-mir-302e (MIRT702536)
- hsa-mir-302d-3p (MIRT702537)
- hsa-mir-302c-3p (MIRT702538)
- hsa-mir-302b-3p (MIRT702539)
- hsa-mir-302a-3p (MIRT702540)
- hsa-mir-93-5p (MIRT702541)
- hsa-mir-526b-3p (MIRT702542)
- hsa-mir-519d-3p (MIRT702543)
- hsa-mir-20b-5p (MIRT702544)
- hsa-mir-20a-5p (MIRT702545)
- hsa-mir-17-5p (MIRT702546)
- hsa-mir-106b-5p (MIRT702547)
- hsa-mir-106a-5p (MIRT702548)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCND3
- Browse OriGene Inhibitory RNA Products For KCND3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCND3
- genomics-online: shRNA clones - Search results for available KCND3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KCND3
- VectorBuilder custom plasmid, inducible vectors for KCND3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCND3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCND3
- genomics-online: cdna clones - Search results for available KCND3 gene related products
- orf clones - Search results for available KCND3 gene related products
- Applied Biological Materials Clones for KCND3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KCND3
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCND3 Gene
Localization for KCND3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCND3 Gene
- Cell membrane; Multi-pass membrane protein. Cell membrane, sarcolemma; Multi-pass membrane protein. Cell projection, dendrite. Note=Interaction with palmitoylated KCNIP2 and KCNIP3 enhances cell surface expression. {ECO:0000250 UniProtKB:Q62897}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0008076 | voltage-gated potassium channel complex | IDA | 21493962 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IBA,IEA | -- |
| GO:0030425 | dendrite | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCND3 Gene
Pathways & Interactions for KCND3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction | ||
| 2 | Potassium Channels | ||
| 3 | Antiarrhythmic Pathway, Pharmacodynamics | ||
| 4 | Dopamine-DARPP32 Feedback onto cAMP Pathway | ||
| 5 | Transmission across Chemical Synapses |
.62
|
|
Pathways by source for KCND3 Gene
6 Reactome pathways for KCND3 Gene
1 PharmGKB pathway for KCND3 Gene
1 Qiagen pathway for KCND3 Gene
Interacting Proteins for KCND3 Gene
Selected Interacting proteins:
Q9UK17-KCND3_HUMAN
ENSP00000319591
for KCND3 Gene via
IID
UniProtKB
STRING
GPS-Prot Interaction Network for KCND3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | TAS | 8734615 |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
| GO:0051260 | protein homooligomerization | IEA | -- |
| GO:0055085 | transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for KCND3 Gene
Drugs & Compounds for KCND3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Disopyramide | Approved | Pharma | Target, inhibitor | 4 | ||
| 4-Aminopyridine | Approved | Pharma | Pore Blocker, Inhibitor, Antagonist, Target, antagonist | potassium channel-blocking agent | 73 | |
| Potassium | Approved, Investigational | Pharma | 0 | |||
| Amitriptyline | Approved | Pharma | Antagonist, Target, inhibitor | 113 | ||
| Imipramine | Approved | Pharma | Antagonist, Pore Blocker, Target, inhibitor | 31 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(4) Tocris Compounds for KCND3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Chromanol 293B | IKs blocker. Also blocks ICFTR | 163163-23-3 |
| Flupirtine maleate | KV7 channel activator | 75507-68-5 |
| Kaliotoxin | KV and KCa blocker | 145199-73-1 |
| MaxiPost | Potassium channel modulator; exerts subtype-specific effects | 187523-35-9 |
Transcripts for KCND3 Gene
mRNA/cDNA for KCND3 Gene
- (13) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (12) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000302127 2659 bps (uc001ebv.2)
- ENST00000315987 2716 bps (uc001ebu.2)
- ENST00000369697 7396 bps (uc057jjv.1)
Unigene Clusters for KCND3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KCND3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCND3
- genomics-online: gRNA clones - Search results for available KCND3 gene related products
- Applied Biological Materials CRISPR for KCND3
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCND3
- GenScript: Design CRISPR guide RNA sequences for KCND3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCND3
- Browse OriGene Inhibitory RNA Products For KCND3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCND3
- genomics-online: shRNA clones - Search results for available KCND3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KCND3
- VectorBuilder custom plasmid, inducible vectors for KCND3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCND3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCND3
- genomics-online: cdna clones - Search results for available KCND3 gene related products
- orf clones - Search results for available KCND3 gene related products
- Applied Biological Materials Clones for KCND3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||
| SP3: |
Expression for KCND3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Amnion (Extraembryonic Tissues)
- Amniotic Epithelial Cells Amniotic Membrane
-
Epithelial Cells
- Amniotic Epithelial Cells Amniotic Membrane
-
Dermis (Integumentary System)
mRNA differential expression in normal tissues according to GTEx for KCND3 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.7) and Brain - Cerebellum (x4.1).
This gene is overexpressed in Bone (37.1) and Frontal cortex (23.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCND3 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of KCND3 Gene:
KCND3SOURCE GeneReport for Unigene cluster for KCND3 Gene:
Hs.666367mRNA Expression by UniProt/SwissProt for KCND3 Gene:
Q9UK17-KCND3_HUMAN
Tissue specificity:
Highly expressed in heart and brain, in particular in cortex, cerebellum, amygdala and caudate nucleus. Detected at lower levels in liver, skeletal muscle, kidney and pancreas. Isoform 1 predominates in most tissues. Isoform 1 and isoform 2 are detected at similar levels in brain, skeletal muscle and pancreas.
Evidence on tissue expression from TISSUES for KCND3 Gene
- Heart(4.6)
- Nervous system(4.6)
- Lung(4.1)
- Muscle(2.7)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KCND3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- mouth
- pharynx
Thorax:
- esophagus
- heart
- heart valve
Abdomen:
- stomach
Limb:
- lower limb
- upper limb
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for KCND3
- genomics-online: primer clones - Search results for available KCND3 gene related products
Gene Expression Assay Products
Orthologs for KCND3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KCND3 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KCND3 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KCND3 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KCND3 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KCND3 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Kcnd3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Kcnd3 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | KCND3 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kcnd3 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | kcnd3-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kcnd3 34 33 |
|
OneToOne | |
| wufi06g01 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Shal 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | Y73B6BL.19 35 |
|
|
|
| shl-1 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9633 34 |
|
OneToMany |
- Species where no ortholog for KCND3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for KCND3 Gene
- ENSEMBL:
- Gene Tree for KCND3 (if available)
- TreeFam:
- Gene Tree for KCND3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KCND3: view image
Paralogs for KCND3 Gene
Paralogs for KCND3 Gene
(20) SIMAP similar genes for KCND3 Gene using alignment to 3 proteins:
- KCND3_HUMAN
- A6QL42_HUMAN
- B7ZKV0_HUMAN
Variants for KCND3 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519453 | pathogenic, Spinocerebellar ataxia 19 | 111,787,060(-) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1060502174 | uncertain-significance, Spinocerebellar ataxia 19 | 111,786,938(-) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs12720446 | benign, Spinocerebellar ataxia 19 | 111,982,610(-) | A/G | coding_sequence_variant, synonymous_variant | |
| rs142744204 | likely-benign, uncertain-significance, not specified, Cardiovascular phenotype, Spinocerebellar ataxia 19 | 111,982,086(-) | T/C | coding_sequence_variant, missense_variant | |
| rs149008060 | likely-benign, uncertain-significance, Spinocerebellar ataxia 19, not specified | 111,780,230(-) | T/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv951394 | CNV | deletion | 24416366 |
| nsv831048 | CNV | gain | 17160897 |
| nsv824143 | CNV | gain | 20364138 |
| nsv547556 | CNV | loss | 21841781 |
| nsv547555 | CNV | loss | 21841781 |
| nsv528707 | CNV | loss | 19592680 |
| nsv463272 | CNV | loss | 19166990 |
| nsv463261 | CNV | loss | 19166990 |
| nsv2432 | CNV | insertion | 18451855 |
| esv3894034 | CNV | loss | 25118596 |
| esv3587199 | CNV | loss | 21293372 |
| esv2675358 | CNV | deletion | 23128226 |
| esv1002713 | CNV | deletion | 20482838 |
Residual Variation Intolerance Score:
11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.58;
12.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KCND3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCND3 Gene
Disorders for KCND3 Gene
(9) MalaCards diseases for KCND3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 19 |
|
|
| brugada syndrome 9 |
|
|
| brugada syndrome |
|
|
| spinocerebellar ataxia type 19/22 |
|
|
| right bundle branch block |
|
|
Search KCND3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KCND3_HUMAN- Spinocerebellar ataxia 19 (SCA19) [MIM:607346]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. {ECO:0000269 PubMed:23280837, ECO:0000269 PubMed:23280838, ECO:0000269 PubMed:28895081}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Brugada syndrome 9 (BRGDA9) [MIM:616399]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:21349352, ECO:0000269 PubMed:22457051}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for KCND3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for KCND3 Gene
Publications for KCND3 Gene
- Mutations in KCND3 cause spinocerebellar ataxia type 22. (PMID: 23280837) Lee YC … Soong BW (Annals of neurology 2012) 2 3 4 58
- Mutations in the genes KCND2 and KCND3 encoding the ion channels Kv4.2 and Kv4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of long QT syndrome. (PMID: 15563876) Frank-Hansen R … Christiansen M (Clinica chimica acta; international journal of clinical chemistry 2005) 3 22 44 58
- Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA). (PMID: 10729221) Isbrandt D … Pongs O (Genomics 2000) 3 4 22 58
- Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3. (PMID: 10942109) Postma AV … Mannens MM (Human genetics 2000) 2 3 22 58
- Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. (PMID: 22457051) Giudicessi JR … Ackerman MJ (Human mutation 2012) 3 4 58
Products for KCND3 Gene
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Sources for KCND3 Gene
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