KCTD3 (potassium channel tetramerization domain containing 3) - Rat Genome Database

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Gene: KCTD3 (potassium channel tetramerization domain containing 3) Homo sapiens
Analyze
Symbol: KCTD3
Name: potassium channel tetramerization domain containing 3
RGD ID: 1321690
HGNC Page HGNC:21305
Description: Predicted to be involved in protein homooligomerization. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BTB/POZ domain-containing protein KCTD3; MGC43935; NY-REN-45; NY-REN-45 antigen; potassium channel tetramerisation domain containing 3; renal carcinoma antigen NY-REN-45
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
GRCh381215,567,304 - 215,621,807 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1215,567,304 - 215,621,807 (+)EnsemblGRCh38hg38GRCh38
GRCh371215,740,647 - 215,795,149 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361213,807,358 - 213,861,772 (+)NCBINCBI36Build 36hg18NCBI36
Build 341212,129,129 - 212,183,542NCBI
Celera1188,964,556 - 189,018,971 (+)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1186,414,971 - 186,469,413 (+)NCBIHuRef
CHM1_11217,013,056 - 217,067,482 (+)NCBICHM1_1
T2T-CHM13v2.01214,807,705 - 214,862,209 (+)NCBIT2T-CHM13v2.0
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
membrane  (IEA)
plasma membrane  (IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:10508479   PMID:12477932   PMID:14702039   PMID:14744259   PMID:15231747   PMID:15489334   PMID:16051665   PMID:16710414   PMID:17620599   PMID:19531213   PMID:19582487   PMID:19615732  
PMID:21145461   PMID:22678362   PMID:22939629   PMID:23382386   PMID:25277244   PMID:25558065   PMID:26186194   PMID:26496610   PMID:26673895   PMID:26972000   PMID:27173435   PMID:27432908  
PMID:27565346   PMID:27880917   PMID:28330616   PMID:28514442   PMID:28675297   PMID:28786561   PMID:29117863   PMID:29406573   PMID:29507755   PMID:29509190   PMID:29669786   PMID:29987050  
PMID:30404837   PMID:31091453   PMID:31300519   PMID:31527615   PMID:31871319   PMID:33001583   PMID:33961781   PMID:34315543   PMID:34316702   PMID:34878901   PMID:35271311   PMID:35384245  
PMID:35563538   PMID:35831314   PMID:35952650   PMID:36123327   PMID:37499664   PMID:37827155  


Genomics

Comparative Map Data
KCTD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381215,567,304 - 215,621,807 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1215,567,304 - 215,621,807 (+)EnsemblGRCh38hg38GRCh38
GRCh371215,740,647 - 215,795,149 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361213,807,358 - 213,861,772 (+)NCBINCBI36Build 36hg18NCBI36
Build 341212,129,129 - 212,183,542NCBI
Celera1188,964,556 - 189,018,971 (+)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1186,414,971 - 186,469,413 (+)NCBIHuRef
CHM1_11217,013,056 - 217,067,482 (+)NCBICHM1_1
T2T-CHM13v2.01214,807,705 - 214,862,209 (+)NCBIT2T-CHM13v2.0
Kctd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391188,703,292 - 188,740,095 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1188,703,292 - 188,740,038 (-)EnsemblGRCm39 Ensembl
GRCm381188,971,095 - 189,007,898 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1188,971,095 - 189,007,841 (-)EnsemblGRCm38mm10GRCm38
MGSCv371190,794,977 - 190,831,719 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361190,671,886 - 190,708,628 (-)NCBIMGSCv36mm8
Celera1195,882,760 - 195,919,558 (-)NCBICelera
Cytogenetic Map1H6NCBI
cM Map193.51NCBI
Kctd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr813103,041,488 - 103,080,069 (-)NCBIGRCr8
mRatBN7.213100,510,193 - 100,548,765 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl13100,510,195 - 100,548,718 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx13103,025,630 - 103,064,151 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013104,414,429 - 104,452,952 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.013101,616,996 - 101,655,605 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013107,433,588 - 107,471,843 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13107,433,588 - 107,471,843 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013112,063,807 - 112,101,984 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413105,117,483 - 105,155,705 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.113105,307,551 - 105,373,106 (-)NCBI
Celera13100,000,837 - 100,039,378 (-)NCBICelera
Cytogenetic Map13q26NCBI
Kctd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554062,501,083 - 2,540,125 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554062,500,619 - 2,539,123 (-)NCBIChiLan1.0ChiLan1.0
KCTD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2133,782,743 - 33,837,316 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1133,740,794 - 33,795,442 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01191,138,755 - 191,193,352 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11195,992,828 - 196,047,013 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1195,992,842 - 196,051,606 (+)Ensemblpanpan1.1panPan2
KCTD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13811,016,344 - 11,059,843 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3811,008,857 - 11,084,871 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3811,042,385 - 11,097,556 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03811,030,105 - 11,085,477 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3811,030,097 - 11,085,471 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13811,042,689 - 11,098,109 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03811,395,043 - 11,450,335 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03811,680,643 - 11,736,064 (+)NCBIUU_Cfam_GSD_1.0
Kctd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934460,852,512 - 60,902,757 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366282,862,617 - 2,912,790 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366282,862,536 - 2,912,784 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCTD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl105,754,156 - 5,815,086 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1105,754,180 - 5,815,126 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2107,733,711 - 7,777,690 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCTD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12513,951,569 - 14,008,370 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2513,950,775 - 14,008,338 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605514,398,224 - 14,454,888 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kctd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462483511,110 - 46,480 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCTD3
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
NM_016121.3(KCTD3):c.1992C>T (p.Ser664=) single nucleotide variant Malignant melanoma [RCV000064523] Chr1:215620162 [GRCh38]
Chr1:215793504 [GRCh37]
Chr1:213860127 [NCBI36]
Chr1:1q41
not provided
NM_206933.2(USH2A):c.15547G>C (p.Ala5183Pro) single nucleotide variant Malignant melanoma [RCV000064524] Chr1:215625843 [GRCh38]
Chr1:215799185 [GRCh37]
Chr1:213865808 [NCBI36]
Chr1:1q41
not provided
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3 copy number gain See cases [RCV000136585] Chr1:214023812..216598173 [GRCh38]
Chr1:214197155..216771515 [GRCh37]
Chr1:212263778..214838138 [NCBI36]
Chr1:1q32.3-41
uncertain significance
GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3 copy number gain See cases [RCV000142206] Chr1:214028574..217327791 [GRCh38]
Chr1:214201917..217501133 [GRCh37]
Chr1:212268540..215567756 [NCBI36]
Chr1:1q32.3-41
uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs) deletion Congenital cerebellar hypoplasia [RCV000162179] Chr1:215602099..215602136 [GRCh38]
Chr1:215775441..215775478 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
GRCh37/hg19 1q41(chr1:215747156-215751043)x5 copy number gain Ductal breast carcinoma [RCV000207208] Chr1:215747156..215751043 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210452] Chr1:215588712..222145072 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
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
NM_016121.5(KCTD3):c.167G>A (p.Arg56Gln) single nucleotide variant Inborn genetic diseases [RCV003261465] Chr1:215574102 [GRCh38]
Chr1:215747445 [GRCh37]
Chr1:1q41
uncertain significance
Single allele duplication Usher syndrome type 2A [RCV000678026] Chr1:215667901..215927476 [GRCh37]
Chr1:1q41
uncertain significance
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
GRCh37/hg19 1q41(chr1:215793834-215861411)x1 copy number loss not provided [RCV000736874] Chr1:215793834..215861411 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_016121.5(KCTD3):c.84-8A>G single nucleotide variant not provided [RCV000961109] Chr1:215573778 [GRCh38]
Chr1:215747121 [GRCh37]
Chr1:1q41
likely benign
NM_016121.5(KCTD3):c.2340C>T (p.Ser780=) single nucleotide variant not provided [RCV000884941] Chr1:215620510 [GRCh38]
Chr1:215793852 [GRCh37]
Chr1:1q41
benign
NC_000001.10:g.(?_215747129)_(215824143_?)del deletion not provided [RCV001033576] Chr1:215747129..215824143 [GRCh37]
Chr1:1q41
likely pathogenic
NM_016121.5(KCTD3):c.2423C>A (p.Ser808Tyr) single nucleotide variant not provided [RCV000964242] Chr1:215620593 [GRCh38]
Chr1:215793935 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_016121.5(KCTD3):c.237del (p.Thr80fs) deletion not specified [RCV000784997] Chr1:215575953 [GRCh38]
Chr1:215749296 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_016121.5(KCTD3):c.28C>G (p.Pro10Ala) single nucleotide variant Inborn genetic diseases [RCV003253818] Chr1:215567713 [GRCh38]
Chr1:215741056 [GRCh37]
Chr1:1q41
likely benign
NM_016121.5(KCTD3):c.1139-9_1139-8insAAA insertion not provided [RCV001732968] Chr1:215604123..215604124 [GRCh38]
Chr1:215777465..215777466 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837015] Chr1:215199578..223035427 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_016121.5(KCTD3):c.1900C>T (p.His634Tyr) single nucleotide variant Inborn genetic diseases [RCV003286186] Chr1:215620070 [GRCh38]
Chr1:215793412 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_016121.5(KCTD3):c.409C>G (p.Arg137Gly) single nucleotide variant Inborn genetic diseases [RCV002777183] Chr1:215579011 [GRCh38]
Chr1:215752354 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.770G>A (p.Ser257Asn) single nucleotide variant Inborn genetic diseases [RCV002687428] Chr1:215586638 [GRCh38]
Chr1:215759981 [GRCh37]
Chr1:1q41
likely benign
NM_016121.5(KCTD3):c.520G>A (p.Glu174Lys) single nucleotide variant Inborn genetic diseases [RCV002777586] Chr1:215579122 [GRCh38]
Chr1:215752465 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.2315A>G (p.Tyr772Cys) single nucleotide variant Inborn genetic diseases [RCV002683566] Chr1:215620485 [GRCh38]
Chr1:215793827 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.143T>C (p.Leu48Pro) single nucleotide variant Inborn genetic diseases [RCV002924894] Chr1:215574078 [GRCh38]
Chr1:215747421 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.1427C>T (p.Thr476Ile) single nucleotide variant Inborn genetic diseases [RCV002978633] Chr1:215608134 [GRCh38]
Chr1:215781476 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.1087C>T (p.Pro363Ser) single nucleotide variant Inborn genetic diseases [RCV002742789] Chr1:215602150 [GRCh38]
Chr1:215775492 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.536-4A>G single nucleotide variant Inborn genetic diseases [RCV002697447] Chr1:215579905 [GRCh38]
Chr1:215753248 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.2171G>C (p.Ser724Thr) single nucleotide variant Inborn genetic diseases [RCV002712282]|not provided [RCV003420425] Chr1:215620341 [GRCh38]
Chr1:215793683 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_016121.5(KCTD3):c.678T>A (p.Asp226Glu) single nucleotide variant Inborn genetic diseases [RCV002961835] Chr1:215586546 [GRCh38]
Chr1:215759889 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.478C>T (p.Arg160Trp) single nucleotide variant Inborn genetic diseases [RCV002719203] Chr1:215579080 [GRCh38]
Chr1:215752423 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.2405G>A (p.Arg802Gln) single nucleotide variant Inborn genetic diseases [RCV002702494] Chr1:215620575 [GRCh38]
Chr1:215793917 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.648G>A (p.Trp216Ter) single nucleotide variant Inborn genetic diseases [RCV002878878] Chr1:215586516 [GRCh38]
Chr1:215759859 [GRCh37]
Chr1:1q41
pathogenic
NM_016121.5(KCTD3):c.554G>A (p.Arg185Gln) single nucleotide variant Inborn genetic diseases [RCV003173428] Chr1:215579927 [GRCh38]
Chr1:215753270 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.2371T>C (p.Ser791Pro) single nucleotide variant Inborn genetic diseases [RCV003354295] Chr1:215620541 [GRCh38]
Chr1:215793883 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.1398G>A (p.Ala466=) single nucleotide variant Inborn genetic diseases [RCV003362358] Chr1:215608105 [GRCh38]
Chr1:215781447 [GRCh37]
Chr1:1q41
likely benign
NM_016121.5(KCTD3):c.2416A>T (p.Ser806Cys) single nucleotide variant Inborn genetic diseases [RCV003352480] Chr1:215620586 [GRCh38]
Chr1:215793928 [GRCh37]
Chr1:1q41
uncertain significance
NM_016121.5(KCTD3):c.997A>T (p.Asn333Tyr) single nucleotide variant Autism [RCV003447714] Chr1:215601930 [GRCh38]
Chr1:215775272 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:214853277-222111742)x1 copy number loss not provided [RCV003484033] Chr1:214853277..222111742 [GRCh37]
Chr1:1q41
pathogenic
NM_016121.5(KCTD3):c.785G>A (p.Ser262Asn) single nucleotide variant KCTD3-related condition [RCV003404626] Chr1:215586653 [GRCh38]
Chr1:215759996 [GRCh37]
Chr1:1q41
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:717
Count of miRNA genes:565
Interacting mature miRNAs:617
Transcripts:ENST00000259154, ENST00000448333, ENST00000452413, ENST00000465650, ENST00000495537
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.

Markers in Region
D1S2352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,794,911 - 215,795,110UniSTSGRCh37
Build 361213,861,534 - 213,861,733RGDNCBI36
Celera1189,018,733 - 189,018,932RGD
Cytogenetic Map1q41UniSTS
TNG Radiation Hybrid Map1106526.0UniSTS
GeneMap99-GB4 RH Map1702.29UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11892.2UniSTS
WI-16536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,794,981 - 215,795,093UniSTSGRCh37
Build 361213,861,604 - 213,861,716RGDNCBI36
Celera1189,018,803 - 189,018,915RGD
Cytogenetic Map1q41UniSTS
HuRef1186,469,245 - 186,469,357UniSTS
GeneMap99-GB4 RH Map1702.29UniSTS
Whitehead-RH Map1855.1UniSTS
NCBI RH Map11892.0UniSTS
D1S2043E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,794,289 - 215,794,397UniSTSGRCh37
Build 361213,860,912 - 213,861,020RGDNCBI36
Celera1189,018,111 - 189,018,219RGD
Cytogenetic Map1q41UniSTS
HuRef1186,468,553 - 186,468,661UniSTS
D1S2530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,795,012 - 215,795,107UniSTSGRCh37
Build 361213,861,635 - 213,861,730RGDNCBI36
Celera1189,018,834 - 189,018,929RGD
Cytogenetic Map1q41UniSTS
HuRef1186,469,276 - 186,469,371UniSTS
AL009561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,774,181 - 215,774,281UniSTSGRCh37
Build 361213,840,804 - 213,840,904RGDNCBI36
Celera1188,998,003 - 188,998,103RGD
Cytogenetic Map1q41UniSTS
HuRef1186,448,445 - 186,448,545UniSTS
SHGC-76347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,793,876 - 215,793,966UniSTSGRCh37
Build 361213,860,499 - 213,860,589RGDNCBI36
Celera1189,017,698 - 189,017,788RGD
Cytogenetic Map1q41UniSTS
HuRef1186,468,140 - 186,468,230UniSTS
TNG Radiation Hybrid Map1106526.0UniSTS
GeneMap99-GB4 RH Map1699.55UniSTS
NCBI RH Map11891.5UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2429 1539 1711 619 891 461 3671 1139 3446 371 1435 1596 171 1202 2126 4
Low 10 1149 15 5 719 4 685 1058 288 48 25 17 4 1 2 662 1 2
Below cutoff 303 333

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK902987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY029594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000259154   ⟹   ENSP00000259154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,567,304 - 215,621,807 (+)Ensembl
RefSeq Acc Id: ENST00000448333   ⟹   ENSP00000396726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,573,786 - 215,581,179 (+)Ensembl
RefSeq Acc Id: ENST00000452413   ⟹   ENSP00000399962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,602,170 - 215,618,951 (+)Ensembl
RefSeq Acc Id: ENST00000465650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,618,705 - 215,620,203 (+)Ensembl
RefSeq Acc Id: ENST00000495537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,618,245 - 215,621,731 (+)Ensembl
RefSeq Acc Id: NM_001319294   ⟹   NP_001306223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,567,304 - 215,621,807 (+)NCBI
CHM1_11217,013,043 - 217,067,496 (+)NCBI
T2T-CHM13v2.01214,807,705 - 214,862,209 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319295   ⟹   NP_001306224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,567,304 - 215,621,807 (+)NCBI
CHM1_11217,013,043 - 217,067,496 (+)NCBI
T2T-CHM13v2.01214,807,705 - 214,862,209 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016121   ⟹   NP_057205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,567,304 - 215,621,807 (+)NCBI
GRCh371215,740,528 - 215,795,149 (+)NCBI
Build 361213,807,358 - 213,861,772 (+)NCBI Archive
Celera1188,964,556 - 189,018,971 (+)RGD
HuRef1186,414,971 - 186,469,413 (+)ENTREZGENE
CHM1_11217,013,043 - 217,067,496 (+)NCBI
T2T-CHM13v2.01214,807,705 - 214,862,209 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273158   ⟹   XP_005273215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,577,682 - 215,621,807 (+)NCBI
GRCh371215,740,528 - 215,795,149 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422104   ⟹   XP_047278060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,573,806 - 215,621,807 (+)NCBI
RefSeq Acc Id: XM_054336902   ⟹   XP_054192877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01214,818,084 - 214,862,209 (+)NCBI
RefSeq Acc Id: XM_054336903   ⟹   XP_054192878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01214,814,208 - 214,862,209 (+)NCBI
RefSeq Acc Id: NP_057205   ⟸   NM_016121
- Peptide Label: isoform 1
- UniProtKB: Q8NDJ0 (UniProtKB/Swiss-Prot),   Q8ND58 (UniProtKB/Swiss-Prot),   Q6PJN6 (UniProtKB/Swiss-Prot),   Q504Q9 (UniProtKB/Swiss-Prot),   Q49AG7 (UniProtKB/Swiss-Prot),   D3DTA6 (UniProtKB/Swiss-Prot),   A0AV15 (UniProtKB/Swiss-Prot),   Q8WX16 (UniProtKB/Swiss-Prot),   Q9Y597 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273215   ⟸   XM_005273158
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001306224   ⟸   NM_001319295
- Peptide Label: isoform 3
- UniProtKB: Q9Y597 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306223   ⟸   NM_001319294
- Peptide Label: isoform 2
- UniProtKB: Q9Y597 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000399962   ⟸   ENST00000452413
RefSeq Acc Id: ENSP00000259154   ⟸   ENST00000259154
RefSeq Acc Id: ENSP00000396726   ⟸   ENST00000448333
RefSeq Acc Id: XP_047278060   ⟸   XM_047422104
- Peptide Label: isoform X2
- UniProtKB: B4DJX2 (UniProtKB/TrEMBL),   B7ZAF7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192878   ⟸   XM_054336903
- Peptide Label: isoform X2
- UniProtKB: B4DJX2 (UniProtKB/TrEMBL),   B7ZAF7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192877   ⟸   XM_054336902
- Peptide Label: isoform X1
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y597-F1-model_v2 AlphaFold Q9Y597 1-815 view protein structure

Promoters
RGD ID:6785235
Promoter ID:HG_KWN:7320
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366945,   ENST00000366946,   NM_016121,   UC001HKT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361213,807,226 - 213,807,792 (+)MPROMDB
RGD ID:6858992
Promoter ID:EPDNEW_H2660
Type:initiation region
Name:KCTD3_1
Description:potassium channel tetramerization domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2661  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,567,375 - 215,567,435EPDNEW
RGD ID:6858994
Promoter ID:EPDNEW_H2661
Type:initiation region
Name:KCTD3_2
Description:potassium channel tetramerization domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2660  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,567,586 - 215,567,646EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21305 AgrOrtholog
COSMIC KCTD3 COSMIC
Ensembl Genes ENSG00000136636 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000259154 ENTREZGENE
  ENST00000259154.9 UniProtKB/Swiss-Prot
  ENST00000448333.1 UniProtKB/TrEMBL
  ENST00000452413.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136636 GTEx
HGNC ID HGNC:21305 ENTREZGENE
Human Proteome Map KCTD3 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHKBP1/KCTD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHKBP1_KCTD3_BTB_POZ UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51133 UniProtKB/Swiss-Prot
NCBI Gene 51133 ENTREZGENE
OMIM 613272 OMIM
PANTHER BTB/POZ DOMAIN-CONTAINING PROTEIN KCTD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SETA BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134945859 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot
  WD_REPEATS_1 UniProtKB/Swiss-Prot
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AV15 ENTREZGENE
  B4DJX2 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAF7 ENTREZGENE, UniProtKB/TrEMBL
  D3DTA6 ENTREZGENE
  H0Y566_HUMAN UniProtKB/TrEMBL
  H0Y5P8_HUMAN UniProtKB/TrEMBL
  KCTD3_HUMAN UniProtKB/Swiss-Prot
  L0R4Z3_HUMAN UniProtKB/TrEMBL
  Q49AG7 ENTREZGENE
  Q504Q9 ENTREZGENE
  Q6PJN6 ENTREZGENE
  Q8ND58 ENTREZGENE
  Q8NDJ0 ENTREZGENE
  Q8WX16 ENTREZGENE
  Q9Y597 ENTREZGENE
UniProt Secondary A0AV15 UniProtKB/Swiss-Prot
  D3DTA6 UniProtKB/Swiss-Prot
  Q49AG7 UniProtKB/Swiss-Prot
  Q504Q9 UniProtKB/Swiss-Prot
  Q6PJN6 UniProtKB/Swiss-Prot
  Q8ND58 UniProtKB/Swiss-Prot
  Q8NDJ0 UniProtKB/Swiss-Prot
  Q8WX16 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-25 KCTD3  potassium channel tetramerization domain containing 3    potassium channel tetramerisation domain containing 3  Symbol and/or name change 5135510 APPROVED