KCNAB3 (potassium voltage-gated channel subfamily A regulatory beta subunit 3) - Rat Genome Database

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Gene: KCNAB3 (potassium voltage-gated channel subfamily A regulatory beta subunit 3) Homo sapiens
Analyze
Symbol: KCNAB3
Name: potassium voltage-gated channel subfamily A regulatory beta subunit 3
RGD ID: 1350747
HGNC Page HGNC:6230
Description: Predicted to enable aldo-keto reductase (NADP) activity; potassium channel regulator activity; and transmembrane transporter binding activity. Predicted to be involved in regulation of potassium ion transmembrane transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated potassium channel complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AKR6A9; FLJ99419; K(+) channel subunit beta-3; K+ channel beta-3 subunit; KCNA3.1B; KCNA3B; KV-BETA-3; MGC116886; potassium channel, voltage gated subfamily A regulatory beta subunit 3; potassium channel, voltage-dependent, beta-3 subunit; potassium voltage-gated channel, shaker-related subfamily, beta member 3; voltage-gated potassium channel subunit beta-3
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
GRCh38177,921,859 - 7,929,856 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,921,859 - 7,929,856 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,825,177 - 7,833,174 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,766,752 - 7,773,478 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,766,751 - 7,773,478NCBI
Celera177,853,593 - 7,860,422 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,719,774 - 7,727,351 (-)NCBIHuRef
CHM1_1177,833,965 - 7,841,541 (-)NCBICHM1_1
T2T-CHM13v2.0177,827,287 - 7,835,284 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:7649300   PMID:8889548   PMID:9857044   PMID:12477932   PMID:15489334   PMID:17081983   PMID:19953087   PMID:21832049   PMID:21873635   PMID:26186194   PMID:28514442   PMID:30258100  
PMID:32296183   PMID:32990398   PMID:33961781  


Genomics

Comparative Map Data
KCNAB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,921,859 - 7,929,856 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,921,859 - 7,929,856 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,825,177 - 7,833,174 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,766,752 - 7,773,478 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,766,751 - 7,773,478NCBI
Celera177,853,593 - 7,860,422 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,719,774 - 7,727,351 (-)NCBIHuRef
CHM1_1177,833,965 - 7,841,541 (-)NCBICHM1_1
T2T-CHM13v2.0177,827,287 - 7,835,284 (-)NCBIT2T-CHM13v2.0
Kcnab3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,217,084 - 69,223,867 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,217,084 - 69,223,868 (+)EnsemblGRCm39 Ensembl
GRCm381169,326,258 - 69,333,041 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,326,258 - 69,333,042 (+)EnsemblGRCm38mm10GRCm38
MGSCv371169,139,760 - 69,146,543 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,142,453 - 69,149,236 (+)NCBIMGSCv36mm8
Celera1176,280,241 - 76,287,020 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.51NCBI
Kcnab3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81054,546,638 - 54,555,209 (+)NCBIGRCr8
mRatBN7.21054,047,830 - 54,056,401 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,047,825 - 54,054,174 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1058,709,508 - 58,715,856 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,198,122 - 58,204,470 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01053,706,267 - 53,712,613 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01055,927,228 - 55,933,653 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1055,927,223 - 55,933,653 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01055,669,258 - 55,676,107 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,119,461 - 56,126,544 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11056,133,083 - 56,140,167 (+)NCBI
Celera1053,204,399 - 53,210,732 (+)NCBICelera
Cytogenetic Map10q24NCBI
Kcnab3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,013,279 - 9,020,716 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,013,279 - 9,020,716 (+)NCBIChiLan1.0ChiLan1.0
KCNAB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21915,520,032 - 15,528,394 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11717,486,046 - 17,494,401 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,956,961 - 7,965,450 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,943,403 - 7,951,479 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,943,403 - 7,951,477 (-)Ensemblpanpan1.1panPan2
KCNAB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,777,435 - 32,783,619 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,777,791 - 32,783,611 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,914,291 - 32,920,458 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,880,131 - 32,886,296 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,879,521 - 32,885,863 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,847,821 - 32,853,991 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,803,852 - 32,810,023 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,982,993 - 32,989,161 (-)NCBIUU_Cfam_GSD_1.0
Kcnab3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,690,421 - 47,698,269 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365951,162,438 - 1,172,016 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365951,164,609 - 1,172,964 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNAB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1253,171,319 - 53,180,823 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11253,171,315 - 53,178,924 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21255,537,670 - 55,543,027 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNAB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,309,965 - 7,318,531 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605914,089,375 - 14,098,175 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnab3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478610,504,147 - 10,511,695 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478610,504,135 - 10,512,383 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNAB3
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|See cases [RCV000052460] Chr17:7750804..10112969 [GRCh38]
Chr17:7654122..10016286 [GRCh37]
Chr17:7594847..9957011 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
NC_000017.11:g.(?_7669603)_(8382316_?)del deletion Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 copy number gain See cases [RCV000511388] Chr17:7431013..9868179 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_004732.4(KCNAB3):c.1069G>A (p.Gly357Ser) single nucleotide variant Inborn genetic diseases [RCV003256417] Chr17:7923524 [GRCh38]
Chr17:7826842 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
NM_004732.4(KCNAB3):c.436A>C (p.Ser146Arg) single nucleotide variant Inborn genetic diseases [RCV003287911] Chr17:7926072 [GRCh38]
Chr17:7829390 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3 copy number gain not provided [RCV000848522] Chr17:7676383..8350870 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.11:g.(?_7669599)_(8382320_?)del deletion Li-Fraumeni syndrome [RCV000803922] Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_004732.4(KCNAB3):c.985A>G (p.Lys329Glu) single nucleotide variant Inborn genetic diseases [RCV003273133] Chr17:7923774 [GRCh38]
Chr17:7827092 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7593552-8225803) copy number gain not specified [RCV002052587] Chr17:7593552..8225803 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7241916-8692213) copy number loss not specified [RCV002052586] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7571752)_(8135555_?)del deletion Li-Fraumeni syndrome [RCV003107874] Chr17:7571752..8135555 [GRCh37]
Chr17:17p13.1		 pathogenic|uncertain significance
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7571752)_(8285628_?)del deletion Li-Fraumeni syndrome [RCV003111422] Chr17:7571752..8285628 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3 copy number gain not provided [RCV002474996] Chr17:7381537..8068400 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.458G>A (p.Ser153Asn) single nucleotide variant Inborn genetic diseases [RCV002990265] Chr17:7925967 [GRCh38]
Chr17:7829285 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.302T>G (p.Phe101Cys) single nucleotide variant Inborn genetic diseases [RCV002772736] Chr17:7927679 [GRCh38]
Chr17:7830997 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.38G>T (p.Arg13Leu) single nucleotide variant Inborn genetic diseases [RCV002728953] Chr17:7929398 [GRCh38]
Chr17:7832716 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.82C>A (p.Pro28Thr) single nucleotide variant Inborn genetic diseases [RCV002992036] Chr17:7929354 [GRCh38]
Chr17:7832672 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.923T>A (p.Ile308Asn) single nucleotide variant Inborn genetic diseases [RCV002728074] Chr17:7923972 [GRCh38]
Chr17:7827290 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.152C>T (p.Pro51Leu) single nucleotide variant Inborn genetic diseases [RCV002859256] Chr17:7929284 [GRCh38]
Chr17:7832602 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.392A>G (p.Tyr131Cys) single nucleotide variant Inborn genetic diseases [RCV002729521] Chr17:7927356 [GRCh38]
Chr17:7830674 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.7G>A (p.Val3Met) single nucleotide variant Inborn genetic diseases [RCV002893628] Chr17:7929429 [GRCh38]
Chr17:7832747 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.250G>A (p.Gly84Arg) single nucleotide variant Inborn genetic diseases [RCV002873264] Chr17:7927819 [GRCh38]
Chr17:7831137 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.1180G>A (p.Gly394Arg) single nucleotide variant Inborn genetic diseases [RCV002665276] Chr17:7923137 [GRCh38]
Chr17:7826455 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.1031T>C (p.Val344Ala) single nucleotide variant Inborn genetic diseases [RCV002696596] Chr17:7923728 [GRCh38]
Chr17:7827046 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.113G>A (p.Gly38Glu) single nucleotide variant Inborn genetic diseases [RCV002718661] Chr17:7929323 [GRCh38]
Chr17:7832641 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.533T>C (p.Ile178Thr) single nucleotide variant Inborn genetic diseases [RCV002652104] Chr17:7925688 [GRCh38]
Chr17:7829006 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.545G>A (p.Arg182Gln) single nucleotide variant Inborn genetic diseases [RCV002718933] Chr17:7925177 [GRCh38]
Chr17:7828495 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.112G>T (p.Gly38Trp) single nucleotide variant Inborn genetic diseases [RCV002897324] Chr17:7929324 [GRCh38]
Chr17:7832642 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.928G>T (p.Gly310Cys) single nucleotide variant Inborn genetic diseases [RCV002897352] Chr17:7923831 [GRCh38]
Chr17:7827149 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.394G>A (p.Ala132Thr) single nucleotide variant Inborn genetic diseases [RCV003174781] Chr17:7927354 [GRCh38]
Chr17:7830672 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.431T>G (p.Leu144Arg) single nucleotide variant Inborn genetic diseases [RCV003202814] Chr17:7926077 [GRCh38]
Chr17:7829395 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.278T>C (p.Leu93Pro) single nucleotide variant Inborn genetic diseases [RCV003263451] Chr17:7927791 [GRCh38]
Chr17:7831109 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_004732.4(KCNAB3):c.221G>A (p.Arg74Gln) single nucleotide variant Inborn genetic diseases [RCV003386909] Chr17:7929215 [GRCh38]
Chr17:7832533 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004732.4(KCNAB3):c.599G>A (p.Arg200His) single nucleotide variant Inborn genetic diseases [RCV003352357] Chr17:7925123 [GRCh38]
Chr17:7828441 [GRCh37]
Chr17:17p13.1		 uncertain significance
Single allele duplication not provided [RCV003448671] Chr17:7709286..8297901 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3002
Count of miRNA genes:1086
Interacting mature miRNAs:1329
Transcripts:ENST00000303790, ENST00000570587, ENST00000570852, ENST00000572275, ENST00000574006, ENST00000576981
Prediction methods:Miranda, Pita, 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
SHGC-31899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,825,703 - 7,825,829UniSTSGRCh37
Build 36177,766,428 - 7,766,554RGDNCBI36
Celera177,853,269 - 7,853,395RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,720,300 - 7,720,426UniSTS
GeneMap99-GB4 RH Map1753.9UniSTS
Whitehead-RH Map1782.4UniSTS
SHGC-31370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,830,445 - 7,830,594UniSTSGRCh37
Build 36177,771,170 - 7,771,319RGDNCBI36
Celera177,858,011 - 7,858,160RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,725,043 - 7,725,192UniSTS
Stanford-G3 RH Map17445.0UniSTS
GeneMap99-GB4 RH Map1753.5UniSTS
Whitehead-RH Map1781.7UniSTS
NCBI RH Map17196.6UniSTS
GeneMap99-G3 RH Map17445.0UniSTS
WI-18598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,833,675 - 7,833,803UniSTSGRCh37
Build 36177,774,400 - 7,774,528RGDNCBI36
Celera177,861,389 - 7,861,517RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,728,273 - 7,728,401UniSTS
GeneMap99-GB4 RH Map1753.5UniSTS
Whitehead-RH Map1781.7UniSTS


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
High
Medium 3 3 35 27 92 25 940 11 212 31 1 2 91
Low 2232 1756 1505 493 1838 339 3102 949 2747 298 1203 1506 168 1 1198 1570 4
Below cutoff 203 1228 177 120 85 117 1162 1218 47 108 42 74 5 4 1127 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA716741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF016411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI090408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM727261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ277958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF455307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303790   ⟹   ENSP00000302719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,921,859 - 7,929,856 (-)Ensembl
RefSeq Acc Id: ENST00000570587   ⟹   ENSP00000458237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,922,939 - 7,929,435 (-)Ensembl
RefSeq Acc Id: ENST00000570852   ⟹   ENSP00000461290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,927,419 - 7,929,803 (-)Ensembl
RefSeq Acc Id: ENST00000572275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,922,708 - 7,923,842 (-)Ensembl
RefSeq Acc Id: ENST00000574006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,927,127 - 7,928,019 (-)Ensembl
RefSeq Acc Id: ENST00000576981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,923,456 - 7,925,975 (-)Ensembl
RefSeq Acc Id: NM_004732   ⟹   NP_004723
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,921,859 - 7,929,856 (-)NCBI
GRCh37177,825,177 - 7,833,180 (-)NCBI
Build 36177,766,752 - 7,773,478 (-)NCBI Archive
Celera177,853,593 - 7,860,422 (-)RGD
HuRef177,719,774 - 7,727,351 (-)NCBI
CHM1_1177,833,965 - 7,841,541 (-)NCBI
T2T-CHM13v2.0177,827,287 - 7,835,284 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524068   ⟹   XP_011522370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,921,859 - 7,929,285 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437044   ⟹   XP_047293000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,921,859 - 7,929,856 (-)NCBI
RefSeq Acc Id: XM_047437045   ⟹   XP_047293001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,921,859 - 7,929,856 (-)NCBI
RefSeq Acc Id: XM_047437046   ⟹   XP_047293002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,921,859 - 7,929,856 (-)NCBI
RefSeq Acc Id: XM_047437047   ⟹   XP_047293003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,921,859 - 7,929,856 (-)NCBI
RefSeq Acc Id: XM_047437048   ⟹   XP_047293004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,921,859 - 7,929,856 (-)NCBI
RefSeq Acc Id: XM_047437049   ⟹   XP_047293005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,921,859 - 7,929,856 (-)NCBI
RefSeq Acc Id: XM_054317769   ⟹   XP_054173744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,827,287 - 7,835,284 (-)NCBI
RefSeq Acc Id: XM_054317770   ⟹   XP_054173745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,827,287 - 7,835,284 (-)NCBI
RefSeq Acc Id: XM_054317771   ⟹   XP_054173746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,827,287 - 7,835,284 (-)NCBI
RefSeq Acc Id: XM_054317772   ⟹   XP_054173747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,827,287 - 7,834,713 (-)NCBI
RefSeq Acc Id: XM_054317773   ⟹   XP_054173748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,827,287 - 7,835,284 (-)NCBI
RefSeq Acc Id: XM_054317774   ⟹   XP_054173749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,827,287 - 7,835,284 (-)NCBI
RefSeq Acc Id: XM_054317775   ⟹   XP_054173750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,827,287 - 7,835,120 (-)NCBI
RefSeq Acc Id: XR_007065532
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,923,969 - 7,929,856 (-)NCBI
RefSeq Acc Id: XR_008484964
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,829,397 - 7,835,284 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_004723   ⟸   NM_004732
- UniProtKB: Q4VAW0 (UniProtKB/Swiss-Prot),   O43448 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011522370   ⟸   XM_011524068
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000458237   ⟸   ENST00000570587
RefSeq Acc Id: ENSP00000461290   ⟸   ENST00000570852
RefSeq Acc Id: ENSP00000302719   ⟸   ENST00000303790
RefSeq Acc Id: XP_047293002   ⟸   XM_047437046
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047293004   ⟸   XM_047437048
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047293003   ⟸   XM_047437047
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047293000   ⟸   XM_047437044
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293001   ⟸   XM_047437045
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293005   ⟸   XM_047437049
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054173746   ⟸   XM_054317771
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054173749   ⟸   XM_054317774
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054173748   ⟸   XM_054317773
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054173744   ⟸   XM_054317769
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173745   ⟸   XM_054317770
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173750   ⟸   XM_054317775
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054173747   ⟸   XM_054317772
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43448-F1-model_v2 AlphaFold O43448 1-404 view protein structure

Promoters
RGD ID:7233869
Promoter ID:EPDNEW_H22680
Type:initiation region
Name:KCNAB3_1
Description:potassium voltage-gated channel subfamily A regulatory beta subunit3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22681  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,929,229 - 7,929,289EPDNEW
RGD ID:7233871
Promoter ID:EPDNEW_H22681
Type:initiation region
Name:KCNAB3_2
Description:potassium voltage-gated channel subfamily A regulatory beta subunit3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22680  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,929,407 - 7,929,467EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6230 AgrOrtholog
COSMIC KCNAB3 COSMIC
Ensembl Genes ENSG00000170049 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303790 ENTREZGENE
  ENST00000303790.3 UniProtKB/Swiss-Prot
  ENST00000570587.5 UniProtKB/TrEMBL
  ENST00000570852.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.100 UniProtKB/Swiss-Prot
GTEx ENSG00000170049 GTEx
HGNC ID HGNC:6230 ENTREZGENE
Human Proteome Map KCNAB3 Human Proteome Map
InterPro K_chnl_volt-dep_bsu_KCNAB UniProtKB/Swiss-Prot
  K_chnl_volt-dep_bsu_KCNAB-rel UniProtKB/Swiss-Prot
  K_chnl_volt-dep_bsu_KCNAB3 UniProtKB/Swiss-Prot
  NADP_OxRdtase_dom UniProtKB/Swiss-Prot
  NADP_OxRdtase_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:9196 UniProtKB/Swiss-Prot
NCBI Gene 9196 ENTREZGENE
OMIM 604111 OMIM
PANTHER PTHR43150 UniProtKB/Swiss-Prot
  VOLTAGE-GATED POTASSIUM CHANNEL SUBUNIT BETA-3 UniProtKB/Swiss-Prot
Pfam Aldo_ket_red UniProtKB/Swiss-Prot
PharmGKB PA30024 PharmGKB
PRINTS KCNAB3CHANEL UniProtKB/Swiss-Prot
  KCNABCHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51430 UniProtKB/Swiss-Prot
UniProt I3L0P1_HUMAN UniProtKB/TrEMBL
  I3L4I8_HUMAN UniProtKB/TrEMBL
  KCAB3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4VAW0 ENTREZGENE
UniProt Secondary Q4VAW0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNAB3  potassium voltage-gated channel subfamily A regulatory beta subunit 3    potassium channel, voltage gated subfamily A regulatory beta subunit 3  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNAB3  potassium channel, voltage gated subfamily A regulatory beta subunit 3    potassium voltage-gated channel, shaker-related subfamily, beta member 3  Symbol and/or name change 5135510 APPROVED