KCNC4 (potassium voltage-gated channel subfamily C member 4) - Rat Genome Database

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Gene: KCNC4 (potassium voltage-gated channel subfamily C member 4) Homo sapiens
Analyze
Symbol: KCNC4
Name: potassium voltage-gated channel subfamily C member 4
RGD ID: 1348258
HGNC Page HGNC
Description: Predicted to have delayed rectifier potassium channel activity; voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential; and voltage-gated ion channel activity involved in regulation of presynaptic membrane potential. Predicted to be involved in potassium ion transmembrane transport and regulation of neurotransmitter secretion. Predicted to localize to several cellular components, including calyx of Held; glycinergic synapse; and integral component of plasma membrane. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C1orf30; chromosome 1 open reading frame 30; HKSHIIIC; K+ channel subunit; KSHIIIC; KV3.4; MGC126818; potassium channel, voltage gated Shaw related subfamily C, member 4; potassium voltage-gated channel, Shaw-related subfamily, member 4; voltage-gated potassium channel subunit KV3.4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1110,211,343 - 110,283,100 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1110,210,314 - 110,283,100 (+)EnsemblGRCh38hg38GRCh38
GRCh381110,210,314 - 110,282,649 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371110,752,936 - 110,776,666 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,555,588 - 110,578,189 (+)NCBINCBI36hg18NCBI36
Build 341110,466,018 - 110,478,710NCBI
Celera1109,000,516 - 109,023,855 (+)NCBI
Cytogenetic Map1p13.3NCBI
HuRef1108,625,031 - 108,648,390 (+)NCBIHuRef
CHM1_11110,868,669 - 110,892,012 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:1740329   PMID:1920536   PMID:7993631   PMID:9649584   PMID:12477932   PMID:15489334   PMID:16341674   PMID:16344560   PMID:16382104   PMID:16449802   PMID:16710414   PMID:20093253  
PMID:20378681   PMID:20593490   PMID:20707712   PMID:21873635   PMID:22473424   PMID:23443853   PMID:25609640   PMID:26638075   PMID:26648458   PMID:28514442   PMID:29507146   PMID:29507755  
PMID:31471334  


Genomics

Comparative Map Data
KCNC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1110,211,343 - 110,283,100 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1110,210,314 - 110,283,100 (+)EnsemblGRCh38hg38GRCh38
GRCh381110,210,314 - 110,282,649 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371110,752,936 - 110,776,666 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,555,588 - 110,578,189 (+)NCBINCBI36hg18NCBI36
Build 341110,466,018 - 110,478,710NCBI
Celera1109,000,516 - 109,023,855 (+)NCBI
Cytogenetic Map1p13.3NCBI
HuRef1108,625,031 - 108,648,390 (+)NCBIHuRef
CHM1_11110,868,669 - 110,892,012 (+)NCBICHM1_1
Kcnc4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393107,345,614 - 107,367,617 (-)NCBIGRCm39mm39
GRCm39 Ensembl3107,345,619 - 107,366,868 (-)Ensembl
GRCm383107,438,298 - 107,460,287 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3107,438,303 - 107,459,552 (-)EnsemblGRCm38mm10GRCm38
MGSCv373107,241,221 - 107,261,816 (-)NCBIGRCm37mm9NCBIm37
MGSCv363107,566,359 - 107,586,954 (-)NCBImm8
Celera3109,770,042 - 109,791,022 (-)NCBICelera
Cytogenetic Map3F2.3NCBI
cM Map346.83NCBI
Kcnc4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22195,063,967 - 195,099,233 (-)NCBI
Rnor_6.0 Ensembl2210,220,908 - 210,241,455 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02210,220,908 - 210,241,447 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02229,694,932 - 229,732,890 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2187,727,839 - 187,748,108 (-)NCBICelera
Cytogenetic Map2q34NCBI
Kcnc4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543513,728,708 - 13,750,660 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543513,728,272 - 13,750,420 (+)NCBIChiLan1.0ChiLan1.0
KCNC4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11127,457,895 - 127,480,954 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1127,458,968 - 127,480,182 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01112,860,887 - 112,884,687 (+)NCBIMhudiblu_PPA_v0panPan3
KCNC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1641,743,214 - 41,764,572 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl641,738,653 - 41,764,578 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha644,496,309 - 44,541,283 (-)NCBI
ROS_Cfam_1.0642,051,239 - 42,096,226 (-)NCBI
UNSW_CanFamBas_1.0641,742,375 - 41,787,313 (-)NCBI
UU_Cfam_GSD_1.0642,177,396 - 42,222,420 (-)NCBI
Kcnc4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505818,424,809 - 18,446,759 (-)NCBI
SpeTri2.0NW_0049367041,667,387 - 1,689,337 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4109,885,116 - 109,908,476 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14109,885,116 - 109,908,518 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24120,280,838 - 120,310,013 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNC4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12023,241,279 - 23,328,175 (-)NCBI
ChlSab1.1 Ensembl2023,304,679 - 23,327,382 (-)Ensembl
Vero_WHO_p1.0NW_02366603835,131,024 - 35,168,004 (+)NCBI
Kcnc4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247725,967,042 - 6,004,647 (+)NCBI

Position Markers
RH66840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,766,379 - 110,766,519UniSTSGRCh37
Build 361110,567,902 - 110,568,042RGDNCBI36
Celera1109,013,560 - 109,013,700RGD
Cytogenetic Map1p21UniSTS
HuRef1108,638,095 - 108,638,235UniSTS
GeneMap99-GB4 RH Map1343.12UniSTS
SHGC-75309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,775,636 - 110,775,784UniSTSGRCh37
Build 361110,577,159 - 110,577,307RGDNCBI36
Celera1109,022,817 - 109,022,965RGD
Cytogenetic Map1p21UniSTS
HuRef1108,647,352 - 108,647,500UniSTS
TNG Radiation Hybrid Map160158.0UniSTS
GeneMap99-GB4 RH Map1347.48UniSTS
NCBI RH Map1834.3UniSTS
SHGC-79790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,767,037 - 110,767,354UniSTSGRCh37
Build 361110,568,560 - 110,568,877RGDNCBI36
Celera1109,014,218 - 109,014,535RGD
Cytogenetic Map1p21UniSTS
HuRef1108,638,753 - 108,639,070UniSTS
TNG Radiation Hybrid Map160154.0UniSTS
SHGC-85156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,756,666 - 110,756,966UniSTSGRCh37
Build 361110,558,189 - 110,558,489RGDNCBI36
Celera1109,003,846 - 109,004,146RGD
Cytogenetic Map1p21UniSTS
HuRef1108,628,361 - 108,628,661UniSTS
TNG Radiation Hybrid Map160158.0UniSTS
RH120403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,756,314 - 110,756,607UniSTSGRCh37
Build 361110,557,837 - 110,558,130RGDNCBI36
Celera1109,003,494 - 109,003,787RGD
Cytogenetic Map1p21UniSTS
HuRef1108,628,009 - 108,628,302UniSTS
TNG Radiation Hybrid Map160154.0UniSTS
Cda0qh11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,769,604 - 110,769,684UniSTSGRCh37
Build 361110,571,127 - 110,571,207RGDNCBI36
Celera1109,016,785 - 109,016,865RGD
Cytogenetic Map1p21UniSTS
HuRef1108,641,320 - 108,641,400UniSTS
TNG Radiation Hybrid Map160158.0UniSTS
GeneMap99-GB4 RH Map1341.92UniSTS
GeneMap99-GB4 RH Map1340.45UniSTS
NCBI RH Map1816.9UniSTS
KCNC4_1814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,765,973 - 110,766,787UniSTSGRCh37
Build 361110,567,496 - 110,568,310RGDNCBI36
Celera1109,013,154 - 109,013,968RGD
HuRef1108,637,689 - 108,638,503UniSTS
RH27338  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map19q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4297
Count of miRNA genes:902
Interacting mature miRNAs:1103
Transcripts:ENST00000369787, ENST00000412512, ENST00000413138, ENST00000438661, ENST00000459877, ENST00000469655, ENST00000489935
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 17 10 4 12 3 7 13 39 6 62 22 1 1 5
Low 2403 2491 1441 354 1394 197 4291 2067 3569 394 1373 1564 170 1203 2732 4 1
Below cutoff 13 495 269 262 532 262 57 110 113 18 19 23 3 51 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001039574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI369490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF969982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM765446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX098184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK823243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA111555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA404087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA902474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA936036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369787   ⟹   ENSP00000358802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,211,473 - 110,249,124 (+)Ensembl
RefSeq Acc Id: ENST00000412512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,212,148 - 110,283,100 (+)Ensembl
RefSeq Acc Id: ENST00000413138   ⟹   ENSP00000388029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,211,492 - 110,234,039 (+)Ensembl
RefSeq Acc Id: ENST00000438661   ⟹   ENSP00000393655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,211,500 - 110,234,044 (+)Ensembl
RefSeq Acc Id: ENST00000459877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,219,716 - 110,234,044 (+)Ensembl
RefSeq Acc Id: ENST00000469655   ⟹   ENSP00000436656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,211,343 - 110,234,044 (+)Ensembl
RefSeq Acc Id: ENST00000489935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,211,343 - 110,224,083 (+)Ensembl
RefSeq Acc Id: ENST00000636402   ⟹   ENSP00000490449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,223,830 - 110,229,151 (+)Ensembl
RefSeq Acc Id: NM_001039574   ⟹   NP_001034663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,314 - 110,234,044 (+)NCBI
GRCh371110,753,336 - 110,776,674 (+)ENTREZGENE
Build 361110,555,588 - 110,578,189 (+)NCBI Archive
HuRef1108,625,031 - 108,648,390 (+)ENTREZGENE
CHM1_11110,868,669 - 110,892,012 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377330   ⟹   NP_001364259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,314 - 110,234,044 (+)NCBI
RefSeq Acc Id: NM_001377331   ⟹   NP_001364260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,314 - 110,234,044 (+)NCBI
RefSeq Acc Id: NM_004978   ⟹   NP_004969
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,314 - 110,234,044 (+)NCBI
GRCh371110,753,336 - 110,776,674 (+)ENTREZGENE
Build 361110,555,588 - 110,578,189 (+)NCBI Archive
HuRef1108,625,031 - 108,648,390 (+)ENTREZGENE
CHM1_11110,868,669 - 110,892,012 (+)NCBI
Sequence:
RefSeq Acc Id: NR_036437
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,314 - 110,234,044 (+)NCBI
GRCh371110,753,336 - 110,776,674 (+)ENTREZGENE
HuRef1108,625,031 - 108,648,390 (+)ENTREZGENE
CHM1_11110,868,669 - 110,892,012 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710625   ⟹   XP_006710688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,794 - 110,282,649 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541401   ⟹   XP_011539703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,794 - 110,247,286 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541403   ⟹   XP_011539705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,794 - 110,234,047 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541404   ⟹   XP_011539706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,794 - 110,234,047 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446790   ⟹   XP_024302558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,210,794 - 110,230,005 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004969   ⟸   NM_004978
- Peptide Label: isoform a
- UniProtKB: Q03721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001034663   ⟸   NM_001039574
- Peptide Label: isoform c
- UniProtKB: Q03721 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006710688   ⟸   XM_006710625
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011539703   ⟸   XM_011541401
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011539705   ⟸   XM_011541403
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011539706   ⟸   XM_011541404
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024302558   ⟸   XM_024446790
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001364259   ⟸   NM_001377330
- Peptide Label: isoform d
RefSeq Acc Id: NP_001364260   ⟸   NM_001377331
- Peptide Label: isoform e
RefSeq Acc Id: ENSP00000393655   ⟸   ENST00000438661
RefSeq Acc Id: ENSP00000490449   ⟸   ENST00000636402
RefSeq Acc Id: ENSP00000388029   ⟸   ENST00000413138
RefSeq Acc Id: ENSP00000436656   ⟸   ENST00000469655
RefSeq Acc Id: ENSP00000358802   ⟸   ENST00000369787
Protein Domains
BTB

Promoters
RGD ID:6856544
Promoter ID:EPDNEW_H1437
Type:multiple initiation site
Name:KCNC4_1
Description:potassium voltage-gated channel subfamily C member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1438  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,211,010 - 110,211,070EPDNEW
RGD ID:6856546
Promoter ID:EPDNEW_H1438
Type:initiation region
Name:KCNC4_2
Description:potassium voltage-gated channel subfamily C member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1437  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,211,480 - 110,211,540EPDNEW
RGD ID:6785831
Promoter ID:HG_KWN:4050
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001039574,   NM_004978,   OTTHUMT00000030364,   OTTHUMT00000314641,   UC009WFR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361110,554,501 - 110,555,282 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12
pathogenic
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2
pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
NM_001039574.2(KCNC4):c.1819+131C>T single nucleotide variant Malignant melanoma [RCV000064013] Chr1:110226309 [GRCh38]
Chr1:110768931 [GRCh37]
Chr1:110570454 [NCBI36]
Chr1:1p13.3
not provided
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_103175204)_(111410059_?)del deletion Autistic disorder of childhood onset [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2
likely pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3
pathogenic
Single allele deletion 1p13.3 deletion syndrome [RCV000786772] Chr1:107779092..111199205 [GRCh37]
Chr1:1p13.3
likely pathogenic
Single allele deletion not provided [RCV000844956] Chr1:108926313..111266497 [GRCh37]
Chr1:1p13.3
not provided
NM_001039574.3(KCNC4):c.786C>T (p.Arg262=) single nucleotide variant not provided [RCV000911895] Chr1:110223071 [GRCh38]
Chr1:110765693 [GRCh37]
Chr1:1p13.3
likely benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizures [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6236 AgrOrtholog
COSMIC KCNC4 COSMIC
Ensembl Genes ENSG00000116396 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358802 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388029 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000393655 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000436656 UniProtKB/Swiss-Prot
  ENSP00000490449 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000413138 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000438661 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000469655 UniProtKB/Swiss-Prot
  ENST00000636402 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116396 GTEx
HGNC ID HGNC:6236 ENTREZGENE
Human Proteome Map KCNC4 Human Proteome Map
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_Kv3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv3.4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv3_ID 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 hsa:3749 UniProtKB/Swiss-Prot
NCBI Gene 3749 ENTREZGENE
OMIM 176265 OMIM
PANTHER PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Potassium_chann UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30028 PharmGKB
PRINTS KV34CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHAWCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GVB7_HUMAN UniProtKB/TrEMBL
  H7BZ66_HUMAN UniProtKB/TrEMBL
  KCNC4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q3MIM4 UniProtKB/Swiss-Prot
  Q5TBI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 KCNC4  potassium voltage-gated channel subfamily C member 4  C1orf30  chromosome 1 open reading frame 30  Data Merged 737654 PROVISIONAL
2016-02-10 KCNC4  potassium voltage-gated channel subfamily C member 4    potassium channel, voltage gated Shaw related subfamily C, member 4  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNC4  potassium channel, voltage gated Shaw related subfamily C, member 4    potassium voltage-gated channel, Shaw-related subfamily, member 4  Symbol and/or name change 5135510 APPROVED