KCNG4 (potassium voltage-gated channel modifier subfamily G member 4) - Rat Genome Database

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Gene: KCNG4 (potassium voltage-gated channel modifier subfamily G member 4) Homo sapiens
Analyze
Symbol: KCNG4
Name: potassium voltage-gated channel modifier subfamily G member 4
RGD ID: 1318394
HGNC Page HGNC
Description: Enables delayed rectifier potassium channel activity and transmembrane transporter binding activity. Involved in potassium ion transmembrane transport. Located in nucleoplasm and plasma membrane. Part of voltage-gated potassium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KV6.3; KV6.4; MGC129609; MGC4558; potassium channel, voltage gated modifier subfamily G, member 4; potassium voltage-gated channel subfamily G member 4; potassium voltage-gated channel, subfamily G, member 4; potassium voltage-gated channel, subfamily G, member 4, isoform 1; voltage-gated potassium channel Kv6.3; voltage-gated potassium channel subunit Kv6.4
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
GRCh381684,218,657 - 84,240,012 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1684,218,657 - 84,240,012 (-)EnsemblGRCh38hg38GRCh38
GRCh371684,252,263 - 84,273,618 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,813,324 - 82,830,857 (-)NCBINCBI36hg18NCBI36
Build 341682,813,323 - 82,830,857NCBI
Celera1668,557,618 - 68,575,161 (-)NCBI
Cytogenetic Map16q24.1NCBI
HuRef1670,008,536 - 70,027,162 (-)NCBIHuRef
CHM1_11685,666,125 - 85,684,742 (-)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

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:8889548   PMID:12060745   PMID:12477932   PMID:15489334   PMID:16096342   PMID:16382104   PMID:19074135   PMID:19717558   PMID:20379614   PMID:21873635   PMID:22589738   PMID:26186194  
PMID:26242757   PMID:26505474   PMID:28514442   PMID:29676528   PMID:32697988   PMID:33961781  


Genomics

Comparative Map Data
KCNG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381684,218,657 - 84,240,012 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1684,218,657 - 84,240,012 (-)EnsemblGRCh38hg38GRCh38
GRCh371684,252,263 - 84,273,618 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,813,324 - 82,830,857 (-)NCBINCBI36hg18NCBI36
Build 341682,813,323 - 82,830,857NCBI
Celera1668,557,618 - 68,575,161 (-)NCBI
Cytogenetic Map16q24.1NCBI
HuRef1670,008,536 - 70,027,162 (-)NCBIHuRef
CHM1_11685,666,125 - 85,684,742 (-)NCBICHM1_1
Kcng4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398120,350,593 - 120,362,497 (-)NCBIGRCm39mm39
GRCm39 Ensembl8120,350,593 - 120,362,419 (-)Ensembl
GRCm388119,623,854 - 119,635,680 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8119,623,854 - 119,635,680 (-)EnsemblGRCm38mm10GRCm38
MGSCv378122,147,754 - 122,159,580 (-)NCBIGRCm37mm9NCBIm37
MGSCv368122,509,831 - 122,521,657 (-)NCBImm8
Celera8123,841,678 - 123,853,504 (-)NCBICelera
Cytogenetic Map8E1NCBI
Kcng4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21947,677,307 - 47,689,410 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1947,677,327 - 47,689,268 (-)Ensembl
Rnor_6.01952,270,907 - 52,283,317 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1952,270,927 - 52,282,877 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01963,018,981 - 63,031,147 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41949,880,614 - 49,892,567 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11949,887,567 - 49,897,080 (-)NCBI
Celera1946,935,300 - 46,947,254 (-)NCBICelera
Cytogenetic Map19q12NCBI
Kcng4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495556484,772 - 99,125 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495556484,772 - 99,125 (+)NCBIChiLan1.0ChiLan1.0
KCNG4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11684,228,460 - 84,246,857 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1684,228,460 - 84,246,857 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01664,886,498 - 64,905,277 (-)NCBIMhudiblu_PPA_v0panPan3
KCNG4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1568,135,729 - 68,156,755 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl568,136,945 - 68,150,522 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha568,150,305 - 68,171,013 (+)NCBI
ROS_Cfam_1.0568,369,292 - 68,383,958 (+)NCBI
ROS_Cfam_1.0 Ensembl568,369,217 - 68,448,166 (+)Ensembl
UMICH_Zoey_3.1568,381,856 - 68,402,516 (+)NCBI
UNSW_CanFamBas_1.0568,218,554 - 68,239,269 (+)NCBI
UU_Cfam_GSD_1.0568,633,795 - 68,654,486 (+)NCBI
Kcng4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934927,864,810 - 27,882,704 (+)NCBI
SpeTri2.0NW_0049366413,618,756 - 3,633,505 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNG4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl64,412,165 - 4,430,684 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.164,411,265 - 4,430,548 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.264,993,994 - 5,012,206 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNG4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1569,627,775 - 69,646,566 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl569,628,861 - 69,644,163 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660476,108,929 - 6,127,715 (+)NCBIVero_WHO_p1.0
Kcng4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247463,367,021 - 3,384,219 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-8469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,269,290 - 84,269,598UniSTSGRCh37
Build 361682,826,791 - 82,827,099RGDNCBI36
Celera1668,571,095 - 68,571,403RGD
Cytogenetic Map16q24.1UniSTS
HuRef1670,023,096 - 70,023,404UniSTS
KCNG4_4116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371684,255,789 - 84,256,530UniSTSGRCh37
Build 361682,813,290 - 82,814,031RGDNCBI36
Celera1668,557,584 - 68,558,325RGD
HuRef1670,009,584 - 70,010,325UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:804
Count of miRNA genes:591
Interacting mature miRNAs:651
Transcripts:ENST00000308251, ENST00000568181
Prediction methods:Miranda, Rnahybrid
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
High
Medium 1
Low 3 35 5 1 8 2 204 2 5 9 5 1
Below cutoff 807 959 796 172 579 69 1756 802 3016 77 837 700 108 539 1088 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000308251   ⟹   ENSP00000312129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,218,657 - 84,240,012 (-)Ensembl
RefSeq Acc Id: ENST00000568181   ⟹   ENSP00000457897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1684,235,408 - 84,239,750 (-)Ensembl
RefSeq Acc Id: NM_172347   ⟹   NP_758857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,218,657 - 84,240,012 (-)NCBI
GRCh371684,254,741 - 84,273,356 (-)ENTREZGENE
Build 361682,813,324 - 82,830,857 (-)NCBI Archive
Celera1668,557,618 - 68,575,161 (-)RGD
HuRef1670,008,536 - 70,027,162 (-)ENTREZGENE
CHM1_11685,666,125 - 85,684,742 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_758857   ⟸   NM_172347
- UniProtKB: Q8TDN1 (UniProtKB/Swiss-Prot),   Q32MC1 (UniProtKB/TrEMBL),   Q547S7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000312129   ⟸   ENST00000308251
RefSeq Acc Id: ENSP00000457897   ⟸   ENST00000568181
Protein Domains
BTB_2   Ion_trans

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TDN1-F1-model_v2 AlphaFold Q8TDN1 1-519 view protein structure

Promoters
RGD ID:7233009
Promoter ID:EPDNEW_H22251
Type:multiple initiation site
Name:KCNG4_1
Description:potassium voltage-gated channel modifier subfamily G member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22252  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,239,818 - 84,239,878EPDNEW
RGD ID:7233015
Promoter ID:EPDNEW_H22252
Type:initiation region
Name:KCNG4_2
Description:potassium voltage-gated channel modifier subfamily G member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22251  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381684,240,011 - 84,240,071EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:84081930-85474903)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052019]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052019]|See cases [RCV000052019] Chr16:84081930..85474903 [GRCh38]
Chr16:84115535..85508509 [GRCh37]
Chr16:82673036..84066010 [NCBI36]
Chr16:16q23.3-24.1		 uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 copy number loss See cases [RCV000053360] Chr16:81753762..85714791 [GRCh38]
Chr16:81787367..85748397 [GRCh37]
Chr16:80344868..84305898 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 copy number loss See cases [RCV000053361] Chr16:83016872..85087809 [GRCh38]
Chr16:83050477..85121415 [GRCh37]
Chr16:81607978..83678916 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
NM_172347.2(KCNG4):c.593C>T (p.Ser198Leu) single nucleotide variant Malignant melanoma [RCV000071254] Chr16:84236893 [GRCh38]
Chr16:84270499 [GRCh37]
Chr16:82828000 [NCBI36]
Chr16:16q24.1		 not provided
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1 copy number loss See cases [RCV000133929] Chr16:83399060..84908120 [GRCh38]
Chr16:83432665..84941726 [GRCh37]
Chr16:81990166..83499227 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3 copy number gain See cases [RCV000135758] Chr16:83878992..84908120 [GRCh38]
Chr16:83912597..84941726 [GRCh37]
Chr16:82470098..83499227 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic|uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3 copy number gain See cases [RCV000136480] Chr16:84063406..84404889 [GRCh38]
Chr16:84097011..84438495 [GRCh37]
Chr16:82654512..82995996 [NCBI36]
Chr16:16q23.3-24.1		 benign
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 copy number loss See cases [RCV000136504] Chr16:83687650..86073240 [GRCh38]
Chr16:83721255..86106846 [GRCh37]
Chr16:82278756..84664347 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1 copy number loss See cases [RCV000139413] Chr16:83763804..84558035 [GRCh38]
Chr16:83797409..84591641 [GRCh37]
Chr16:82354910..83149142 [NCBI36]
Chr16:16q23.3-24.1		 likely pathogenic|uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3 copy number gain See cases [RCV000140831] Chr16:83763804..84276472 [GRCh38]
Chr16:83797409..84310078 [GRCh37]
Chr16:82354910..82867579 [NCBI36]
Chr16:16q23.3-24.1		 uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 copy number loss See cases [RCV000203439] Chr16:83553094..86098013 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1 copy number loss See cases [RCV000240561] Chr16:83496909..84695933 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:84098379-84402295)x3 copy number gain See cases [RCV000448558] Chr16:84098379..84402295 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:84111320-84485022)x3 copy number gain not provided [RCV000683852] Chr16:84111320..84485022 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83813294-84984350)x3 copy number gain not provided [RCV000739258] Chr16:83813294..84984350 [GRCh37]
Chr16:16q23.3-24.1		 likely benign
NM_172347.3(KCNG4):c.1255G>A (p.Val419Met) single nucleotide variant not provided [RCV000958720] Chr16:84222522 [GRCh38]
Chr16:84256128 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q23.3-24.1(chr16:84145386-84724295)x3 copy number gain not provided [RCV000751788] Chr16:84145386..84724295 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q24.1(chr16:84268248-84282849)x1 copy number loss not provided [RCV000751790] Chr16:84268248..84282849 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_172347.3(KCNG4):c.442G>A (p.Ala148Thr) single nucleotide variant not provided [RCV000969308] Chr16:84237044 [GRCh38]
Chr16:84270650 [GRCh37]
Chr16:16q24.1		 benign
NM_172347.3(KCNG4):c.933G>A (p.Ala311=) single nucleotide variant not provided [RCV000881610] Chr16:84222844 [GRCh38]
Chr16:84256450 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1 copy number loss not provided [RCV000849998] Chr16:79254648..84827672 [GRCh37]
Chr16:16q23.2-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1 copy number loss not provided [RCV001006830] Chr16:83330709..84866927 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_172347.3(KCNG4):c.1158C>T (p.Ser386=) single nucleotide variant not provided [RCV000950467] Chr16:84222619 [GRCh38]
Chr16:84256225 [GRCh37]
Chr16:16q24.1		 benign
NM_172347.3(KCNG4):c.1449A>G (p.Pro483=) single nucleotide variant not provided [RCV000889519] Chr16:84222328 [GRCh38]
Chr16:84255934 [GRCh37]
Chr16:16q24.1		 benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
Single allele deletion Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251455] Chr16:83931797..86285776 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3 copy number gain not provided [RCV001258657] Chr16:83866931..85276940 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611) copy number loss not specified [RCV002052556] Chr16:84134463..85705611 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026) copy number loss not specified [RCV002052553] Chr16:83313106..84608026 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84035055-84346054) copy number gain not specified [RCV002052555] Chr16:84035055..84346054 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:84164522-84712751) copy number gain not specified [RCV002052557] Chr16:84164522..84712751 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19697 AgrOrtholog
COSMIC KCNG4 COSMIC
Ensembl Genes ENSG00000168418 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000312129 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000457897 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308251 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000568181 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.710.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168418 GTEx
HGNC ID HGNC:19697 ENTREZGENE
Human Proteome Map KCNG4 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_Kv9 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:93107 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 93107 ENTREZGENE
OMIM 607603 OMIM
PANTHER PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134989953 PharmGKB
PRINTS KV9CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt KCNG4_HUMAN UniProtKB/Swiss-Prot
  Q32MC1 ENTREZGENE, UniProtKB/TrEMBL
  Q547S7 ENTREZGENE, UniProtKB/TrEMBL
  Q8TDN1 ENTREZGENE
UniProt Secondary Q96H24 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNG4  potassium voltage-gated channel modifier subfamily G member 4  KCNG4  potassium channel, voltage gated modifier subfamily G, member 4  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNG4  potassium channel, voltage gated modifier subfamily G, member 4  KCNG4  potassium voltage-gated channel, subfamily G, member 4  Symbol and/or name change 5135510 APPROVED