KCTD4 (potassium channel tetramerization domain containing 4) - Rat Genome Database

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Gene: KCTD4 (potassium channel tetramerization domain containing 4) Homo sapiens
Analyze
Symbol: KCTD4
Name: potassium channel tetramerization domain containing 4
RGD ID: 1353413
HGNC Page HGNC:23227
Description: Predicted to be involved in protein homooligomerization.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bA321C24.3; BTB/POZ domain-containing protein KCTD4; potassium channel tetramerisation domain containing 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
GRCh381345,192,853 - 45,201,045 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1345,192,853 - 45,201,045 (-)EnsemblGRCh38hg38GRCh38
GRCh371345,766,988 - 45,775,180 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361344,664,988 - 44,673,175 (-)NCBINCBI36Build 36hg18NCBI36
Build 341344,664,989 - 44,666,852NCBI
Celera1326,823,093 - 26,831,280 (-)NCBICelera
Cytogenetic Map13q14.12-q14.13NCBI
HuRef1326,568,652 - 26,576,838 (-)NCBIHuRef
CHM1_11345,734,533 - 45,742,720 (-)NCBICHM1_1
T2T-CHM13v2.01344,412,904 - 44,421,096 (-)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

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15489334   PMID:16189514   PMID:16344560   PMID:25416956   PMID:25814554   PMID:25910212   PMID:27107014   PMID:28712289   PMID:30404837   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
KCTD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381345,192,853 - 45,201,045 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1345,192,853 - 45,201,045 (-)EnsemblGRCh38hg38GRCh38
GRCh371345,766,988 - 45,775,180 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361344,664,988 - 44,673,175 (-)NCBINCBI36Build 36hg18NCBI36
Build 341344,664,989 - 44,666,852NCBI
Celera1326,823,093 - 26,831,280 (-)NCBICelera
Cytogenetic Map13q14.12-q14.13NCBI
HuRef1326,568,652 - 26,576,838 (-)NCBIHuRef
CHM1_11345,734,533 - 45,742,720 (-)NCBICHM1_1
T2T-CHM13v2.01344,412,904 - 44,421,096 (-)NCBIT2T-CHM13v2.0
Kctd4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391476,192,443 - 76,202,657 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1476,192,449 - 76,203,646 (+)EnsemblGRCm39 Ensembl
GRCm381475,955,003 - 75,965,217 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1475,955,009 - 75,966,206 (+)EnsemblGRCm38mm10GRCm38
MGSCv371476,354,810 - 76,365,024 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361474,689,158 - 74,699,372 (+)NCBIMGSCv36mm8
Celera1473,456,212 - 73,466,277 (+)NCBICelera
Cytogenetic Map14D3NCBI
cM Map1440.3NCBI
Kctd4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81557,675,024 - 57,686,816 (+)NCBIGRCr8
mRatBN7.21551,263,664 - 51,278,030 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1551,274,295 - 51,277,499 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1555,432,568 - 55,435,772 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01556,550,889 - 56,554,093 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01553,373,392 - 53,376,592 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01558,006,288 - 58,021,166 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1558,016,238 - 58,019,442 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01561,711,478 - 61,723,368 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41556,872,713 - 56,875,694 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1550,900,784 - 50,903,988 (+)NCBICelera
Cytogenetic Map15q11NCBI
Kctd4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555182,977,055 - 2,987,676 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555182,977,055 - 2,987,676 (-)NCBIChiLan1.0ChiLan1.0
KCTD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21444,713,419 - 44,721,382 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11335,775,417 - 35,780,282 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01326,361,483 - 26,369,687 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13197,702,121 - 197,710,303 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3197,708,590 - 197,709,369 (+)Ensemblpanpan1.1panPan2
KCTD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1225,820,833 - 5,832,672 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl225,830,982 - 5,831,758 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha225,801,957 - 5,821,225 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0225,930,440 - 5,949,756 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl225,948,316 - 5,949,092 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1225,712,604 - 5,731,890 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0225,775,746 - 5,795,218 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0225,781,268 - 5,800,524 (+)NCBIUU_Cfam_GSD_1.0
Kctd4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945155,398,279 - 155,400,084 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367911,319,688 - 1,320,467 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367911,318,756 - 1,320,794 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCTD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1122,056,743 - 22,076,408 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11122,056,743 - 22,076,501 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KCTD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1323,285,993 - 23,347,315 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl323,286,681 - 23,287,460 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605720,774,921 - 20,776,818 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kctd4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247489,777,890 - 9,786,966 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247489,777,747 - 9,787,130 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCTD4
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|See cases [RCV000051377] Chr13:38558617..47502862 [GRCh38]
Chr13:39132754..48076997 [GRCh37]
Chr13:38030754..46974998 [NCBI36]
Chr13:13q13.3-14.2		 pathogenic
GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1 copy number loss See cases [RCV000051378] Chr13:43505396..49983668 [GRCh38]
Chr13:44079532..50557804 [GRCh37]
Chr13:42977532..49455805 [NCBI36]
Chr13:13q14.11-14.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3		 pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
NM_001286272.1(TPT1):c.*1472_*277473dup duplication Gestational diabetes mellitus uncontrolled [RCV000161697] Chr13:45060003..45336004 [GRCh38]
Chr13:45634138..45910139 [GRCh37]
Chr13:13q14.12-14.13		 not provided
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 copy number gain not provided [RCV001258545] Chr13:45487628..52639336 [GRCh37]
Chr13:13q14.12-14.3		 likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) copy number loss not specified [RCV002053058] Chr13:44573371..53324137 [GRCh37]
Chr13:13q14.11-14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_198404.3(KCTD4):c.659T>G (p.Leu220Trp) single nucleotide variant Inborn genetic diseases [RCV002779624] Chr13:45193909 [GRCh38]
Chr13:45768044 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.209C>T (p.Pro70Leu) single nucleotide variant Inborn genetic diseases [RCV002870329] Chr13:45194359 [GRCh38]
Chr13:45768494 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.449A>T (p.Asp150Val) single nucleotide variant Inborn genetic diseases [RCV002799149] Chr13:45194119 [GRCh38]
Chr13:45768254 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.578T>C (p.Ile193Thr) single nucleotide variant Inborn genetic diseases [RCV002764540] Chr13:45193990 [GRCh38]
Chr13:45768125 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.29A>G (p.Lys10Arg) single nucleotide variant Inborn genetic diseases [RCV002748392] Chr13:45194539 [GRCh38]
Chr13:45768674 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.746T>C (p.Ile249Thr) single nucleotide variant Inborn genetic diseases [RCV003183982] Chr13:45193822 [GRCh38]
Chr13:45767957 [GRCh37]
Chr13:13q14.12		 uncertain significance
NM_198404.3(KCTD4):c.487G>C (p.Asp163His) single nucleotide variant Inborn genetic diseases [RCV003354277] Chr13:45194081 [GRCh38]
Chr13:45768216 [GRCh37]
Chr13:13q14.12		 uncertain significance
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 copy number loss not specified [RCV003987012] Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2		 pathogenic
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1		 pathogenic
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:534
Count of miRNA genes:231
Interacting mature miRNAs:239
Transcripts:ENST00000379108, ENST00000405872
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
A004S30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,767,315 - 45,767,441UniSTSGRCh37
Build 361344,665,315 - 44,665,441RGDNCBI36
Celera1326,823,420 - 26,823,546RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q14.12UniSTS
HuRef1326,568,979 - 26,569,105UniSTS
GeneMap99-GB4 RH Map13135.29UniSTS
Whitehead-RH Map13130.6UniSTS
D13S1542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,768,324 - 45,768,614UniSTSGRCh37
Build 361344,666,324 - 44,666,614RGDNCBI36
Celera1326,824,429 - 26,824,719RGD
Cytogenetic Map13q14.12UniSTS
HuRef1326,569,988 - 26,570,278UniSTS
D13S1557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,768,324 - 45,768,551UniSTSGRCh37
Build 361344,666,324 - 44,666,551RGDNCBI36
Celera1326,824,429 - 26,824,656RGD
Cytogenetic Map13q14.12UniSTS
HuRef1326,569,988 - 26,570,215UniSTS
WI-13796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371345,767,263 - 45,767,389UniSTSGRCh37
Build 361344,665,263 - 44,665,389RGDNCBI36
Celera1326,823,368 - 26,823,494RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q14.12UniSTS
HuRef1326,568,927 - 26,569,053UniSTS
GeneMap99-GB4 RH Map13148.23UniSTS
Whitehead-RH Map13131.6UniSTS


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 6 5 1 1 1 353 2 1316 11 3 14 349
Low 739 262 270 75 66 6 1334 96 2186 127 63 39 71 110 866 1
Below cutoff 1362 1834 833 271 766 183 1771 1524 190 184 1007 918 95 1 799 1042 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000379108   ⟹   ENSP00000368402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1345,192,853 - 45,201,045 (-)Ensembl
RefSeq Acc Id: NM_198404   ⟹   NP_940686
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381345,192,853 - 45,201,045 (-)NCBI
GRCh371345,766,988 - 45,775,175 (-)RGD
Build 361344,664,988 - 44,673,175 (-)NCBI Archive
Celera1326,823,093 - 26,831,280 (-)RGD
HuRef1326,568,652 - 26,576,838 (-)ENTREZGENE
CHM1_11345,734,533 - 45,742,720 (-)NCBI
T2T-CHM13v2.01344,412,904 - 44,421,096 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_940686 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH18063 (Get FASTA)   NCBI Sequence Viewer  
  BAF83364 (Get FASTA)   NCBI Sequence Viewer  
  EAX08730 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000368402
  ENSP00000368402.1
GenBank Protein Q8WVF5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_940686   ⟸   NM_198404
- UniProtKB: Q5W0P9 (UniProtKB/Swiss-Prot),   Q8WVF5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000368402   ⟸   ENST00000379108
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WVF5-F1-model_v2 AlphaFold Q8WVF5 1-259 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23227 AgrOrtholog
COSMIC KCTD4 COSMIC
Ensembl Genes ENSG00000180332 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000379108 ENTREZGENE
  ENST00000379108.2 UniProtKB/Swiss-Prot
GTEx ENSG00000180332 GTEx
HGNC ID HGNC:23227 ENTREZGENE
Human Proteome Map KCTD4 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot
  KCTD4_C UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
  T1-type_BTB UniProtKB/Swiss-Prot
KEGG Report hsa:386618 UniProtKB/Swiss-Prot
NCBI Gene 386618 ENTREZGENE
OMIM 620638 OMIM
PANTHER BTB/POZ DOMAIN-CONTAINING PROTEIN KCTD4 UniProtKB/Swiss-Prot
  POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING UniProtKB/Swiss-Prot
Pfam BTB_2 UniProtKB/Swiss-Prot
  KCTD4_C UniProtKB/Swiss-Prot
PharmGKB PA134880839 PharmGKB
SMART BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot
UniProt KCTD4_HUMAN UniProtKB/Swiss-Prot
  Q5W0P9 ENTREZGENE
  Q8WVF5 ENTREZGENE
UniProt Secondary Q5W0P9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-25 KCTD4  potassium channel tetramerization domain containing 4    potassium channel tetramerisation domain containing 4  Symbol and/or name change 5135510 APPROVED