KCNV1 (potassium voltage-gated channel modifier subfamily V member 1) - Rat Genome Database

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Gene: KCNV1 (potassium voltage-gated channel modifier subfamily V member 1) Homo sapiens
Analyze
Symbol: KCNV1
Name: potassium voltage-gated channel modifier subfamily V member 1
RGD ID: 731335
HGNC Page HGNC:18861
Description: Predicted to enable voltage-gated potassium channel activity. Predicted to be involved in action potential and potassium ion transmembrane transport. Located in intercellular bridge and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HNKA; KCNB3; KV2.3; KV8.1; neuronal potassium channel alpha subunit HNKA; potassium channel Kv8.1; potassium channel, subfamily V, member 1; potassium channel, voltage gated modifier subfamily V, member 1; potassium voltage-gated channel subfamily V member 1; voltage-gated potassium channel subunit Kv8.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388109,963,636 - 109,975,771 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8109,963,636 - 109,975,771 (-)EnsemblGRCh38hg38GRCh38
GRCh378110,975,865 - 110,988,000 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368111,048,409 - 111,056,135 (-)NCBINCBI36Build 36hg18NCBI36
Build 348111,048,410 - 111,056,135NCBI
Celera8107,166,854 - 107,174,580 (-)NCBICelera
Cytogenetic Map8q23.2NCBI
HuRef8106,301,223 - 106,308,930 (-)NCBIHuRef
CHM1_18111,019,498 - 111,027,224 (-)NCBICHM1_1
T2T-CHM13v2.08111,092,275 - 111,104,410 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8670833   PMID:9079713   PMID:9110174   PMID:12383276   PMID:12477932   PMID:14697513   PMID:16382104   PMID:21873635   PMID:25056061   PMID:30021884   PMID:33961781  
PMID:34857952  


Genomics

Comparative Map Data
KCNV1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388109,963,636 - 109,975,771 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8109,963,636 - 109,975,771 (-)EnsemblGRCh38hg38GRCh38
GRCh378110,975,865 - 110,988,000 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368111,048,409 - 111,056,135 (-)NCBINCBI36Build 36hg18NCBI36
Build 348111,048,410 - 111,056,135NCBI
Celera8107,166,854 - 107,174,580 (-)NCBICelera
Cytogenetic Map8q23.2NCBI
HuRef8106,301,223 - 106,308,930 (-)NCBIHuRef
CHM1_18111,019,498 - 111,027,224 (-)NCBICHM1_1
T2T-CHM13v2.08111,092,275 - 111,104,410 (-)NCBIT2T-CHM13v2.0
Kcnv1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391544,959,482 - 44,979,375 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1544,969,680 - 44,978,316 (-)EnsemblGRCm39 Ensembl
GRCm381545,096,086 - 45,115,912 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1545,106,284 - 45,114,920 (-)EnsemblGRCm38mm10GRCm38
MGSCv371544,937,830 - 44,946,480 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361544,936,358 - 44,944,901 (-)NCBIMGSCv36mm8
Celera1545,557,088 - 45,565,718 (-)NCBICelera
Cytogenetic Map15B3.3NCBI
cM Map1517.25NCBI
Kcnv1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8778,145,319 - 78,153,794 (-)NCBIGRCr8
mRatBN7.2776,260,695 - 76,269,170 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl776,260,695 - 76,269,170 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx778,112,150 - 78,120,639 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0780,314,662 - 80,323,151 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0780,180,363 - 80,188,851 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0784,016,864 - 84,023,205 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl784,015,207 - 84,023,316 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0784,031,382 - 84,037,723 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4781,012,246 - 81,018,587 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1781,032,975 - 81,039,317 (-)NCBI
Celera773,232,467 - 73,238,820 (-)NCBICelera
Cytogenetic Map7q31NCBI
Kcnv1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541717,292,459 - 17,299,241 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541717,292,459 - 17,298,773 (-)NCBIChiLan1.0ChiLan1.0
KCNV1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27127,341,870 - 127,351,948 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18102,863,040 - 102,873,102 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08106,616,952 - 106,627,423 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18108,758,296 - 108,770,506 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8108,761,656 - 108,770,506 (-)Ensemblpanpan1.1panPan2
KCNV1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11310,440,159 - 10,449,369 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1310,443,595 - 10,450,005 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1310,430,455 - 10,439,600 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01310,721,039 - 10,730,178 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1310,721,400 - 10,730,886 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11310,468,908 - 10,478,047 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01310,580,313 - 10,589,461 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01310,669,843 - 10,678,992 (-)NCBIUU_Cfam_GSD_1.0
Kcnv1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530327,686,632 - 27,696,316 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647035,113,788 - 35,123,474 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647035,113,508 - 35,119,855 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNV1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl427,641,238 - 27,650,054 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1427,640,867 - 27,648,591 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2429,810,564 - 29,817,706 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNV1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18104,656,486 - 104,665,417 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8104,654,853 - 104,664,699 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603935,896,728 - 35,908,903 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnv1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247639,010,899 - 9,019,857 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247639,013,219 - 9,020,870 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNV1
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2		 uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_014379.2(KCNV1):c.1456G>A (p.Glu486Lys) single nucleotide variant Malignant melanoma [RCV000068099] Chr8:109968135 [GRCh38]
Chr8:110980364 [GRCh37]
Chr8:111049540 [NCBI36]
Chr8:8q23.2		 not provided
NM_014379.2(KCNV1):c.597C>T (p.Ile199=) single nucleotide variant Malignant melanoma [RCV000068100] Chr8:109972652 [GRCh38]
Chr8:110984881 [GRCh37]
Chr8:111054057 [NCBI36]
Chr8:8q23.2		 not provided
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
GRCh37/hg19 8q23.2(chr8:110847849-112047339)x3 copy number gain not provided [RCV000683006] Chr8:110847849..112047339 [GRCh37]
Chr8:8q23.2		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_014379.4(KCNV1):c.1450G>A (p.Gly484Ser) single nucleotide variant not specified [RCV004303166] Chr8:109968141 [GRCh38]
Chr8:110980370 [GRCh37]
Chr8:8q23.2		 uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018) copy number loss not specified [RCV002053793] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_014379.4(KCNV1):c.512C>T (p.Thr171Ile) single nucleotide variant not specified [RCV004174204] Chr8:109972737 [GRCh38]
Chr8:110984966 [GRCh37]
Chr8:8q23.2		 uncertain significance
NM_014379.4(KCNV1):c.718C>A (p.Gln240Lys) single nucleotide variant not specified [RCV004296801] Chr8:109972531 [GRCh38]
Chr8:110984760 [GRCh37]
Chr8:8q23.2		 uncertain significance
NM_014379.4(KCNV1):c.484A>G (p.Ser162Gly) single nucleotide variant not specified [RCV004342754] Chr8:109972765 [GRCh38]
Chr8:110984994 [GRCh37]
Chr8:8q23.2		 uncertain significance
NM_014379.4(KCNV1):c.1022A>T (p.Gln341Leu) single nucleotide variant not specified [RCV004363972] Chr8:109968569 [GRCh38]
Chr8:110980798 [GRCh37]
Chr8:8q23.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_014379.4(KCNV1):c.13G>A (p.Gly5Ser) single nucleotide variant not specified [RCV004398911] Chr8:109974376 [GRCh38]
Chr8:110986605 [GRCh37]
Chr8:8q23.2		 uncertain significance
NM_014379.4(KCNV1):c.30C>G (p.Asp10Glu) single nucleotide variant not specified [RCV004628265] Chr8:109974359 [GRCh38]
Chr8:110986588 [GRCh37]
Chr8:8q23.2		 uncertain significance
NM_014379.4(KCNV1):c.962G>A (p.Arg321His) single nucleotide variant not specified [RCV004628266] Chr8:109972287 [GRCh38]
Chr8:110984516 [GRCh37]
Chr8:8q23.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1978
Count of miRNA genes:873
Interacting mature miRNAs:1053
Transcripts:ENST00000297404, ENST00000524391
Prediction methods: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.

Markers in Region
RH36043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,984,723 - 110,984,887UniSTSGRCh37
Build 368111,053,899 - 111,054,063RGDNCBI36
Celera8107,172,344 - 107,172,508RGD
Cytogenetic Map8q23.2UniSTS
HuRef8106,306,694 - 106,306,858UniSTS
GeneMap99-GB4 RH Map8449.59UniSTS
NCBI RH Map81222.5UniSTS
SHGC-16598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,979,285 - 110,979,415UniSTSGRCh37
Build 368111,048,461 - 111,048,591RGDNCBI36
Celera8107,166,906 - 107,167,036RGD
Cytogenetic Map8q23.2UniSTS
HuRef8106,301,275 - 106,301,405UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
191 1415 869 701 4050 1115 1275 4 183 845 64 1207 2764 1875 29 3015 343 951 1156 123

Sequence


Ensembl Acc Id: ENST00000297404   ⟹   ENSP00000297404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8109,967,006 - 109,974,730 (-)Ensembl
Ensembl Acc Id: ENST00000524391   ⟹   ENSP00000435954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8109,963,636 - 109,975,771 (-)Ensembl
RefSeq Acc Id: NM_014379   ⟹   NP_055194
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,963,636 - 109,975,771 (-)NCBI
GRCh378110,979,233 - 110,987,963 (-)NCBI
Build 368111,048,409 - 111,056,135 (-)NCBI Archive
Celera8107,166,854 - 107,174,580 (-)RGD
HuRef8106,301,223 - 106,308,930 (-)RGD
CHM1_18111,016,139 - 111,028,341 (-)NCBI
T2T-CHM13v2.08111,092,275 - 111,104,410 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055194   ⟸   NM_014379
- UniProtKB: Q9UHJ4 (UniProtKB/Swiss-Prot),   Q6PIU1 (UniProtKB/Swiss-Prot),   B2R8Q7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000297404   ⟸   ENST00000297404
Ensembl Acc Id: ENSP00000435954   ⟸   ENST00000524391
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PIU1-F1-model_v2 AlphaFold Q6PIU1 1-500 view protein structure

Promoters
RGD ID:7214011
Promoter ID:EPDNEW_H12751
Type:initiation region
Name:KCNV1_1
Description:potassium voltage-gated channel modifier subfamily V member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12753  EPDNEW_H12752  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,974,695 - 109,974,755EPDNEW
RGD ID:7214015
Promoter ID:EPDNEW_H12752
Type:initiation region
Name:KCNV1_3
Description:potassium voltage-gated channel modifier subfamily V member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12751  EPDNEW_H12753  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,975,736 - 109,975,796EPDNEW
RGD ID:7214013
Promoter ID:EPDNEW_H12753
Type:initiation region
Name:KCNV1_2
Description:potassium voltage-gated channel modifier subfamily V member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12751  EPDNEW_H12752  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,975,938 - 109,975,998EPDNEW
RGD ID:6806816
Promoter ID:HG_KWN:61934
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003YNR.2,   UC010MCW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368111,055,736 - 111,057,162 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18861 AgrOrtholog
COSMIC KCNV1 COSMIC
Ensembl Genes ENSG00000164794 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297404.1 UniProtKB/Swiss-Prot
  ENST00000524391 ENTREZGENE
  ENST00000524391.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164794 GTEx
HGNC ID HGNC:18861 ENTREZGENE
Human Proteome Map KCNV1 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_Kv8.1 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:27012 UniProtKB/Swiss-Prot
NCBI Gene 27012 ENTREZGENE
OMIM 608164 OMIM
PANTHER PTHR11537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11537:SF38 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38721 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KV8CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KVCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R8Q7 ENTREZGENE, UniProtKB/TrEMBL
  KCNV1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q76FP2_HUMAN UniProtKB/TrEMBL
  Q9UHJ4 ENTREZGENE
UniProt Secondary Q9UHJ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNV1  potassium voltage-gated channel modifier subfamily V member 1    potassium channel, voltage gated modifier subfamily V, member 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNV1  potassium channel, voltage gated modifier subfamily V, member 1    potassium channel, subfamily V, member 1  Symbol and/or name change 5135510 APPROVED