KCNAB2 (potassium voltage-gated channel subfamily A regulatory beta subunit 2) - Rat Genome Database

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Gene: KCNAB2 (potassium voltage-gated channel subfamily A regulatory beta subunit 2) Homo sapiens
Analyze
Symbol: KCNAB2
Name: potassium voltage-gated channel subfamily A regulatory beta subunit 2
RGD ID: 1354203
HGNC Page HGNC:6229
Description: Enables potassium channel regulator activity. Involved in regulation of potassium ion transmembrane transport. Located in juxtaparanode region of axon and membrane. Part of voltage-gated potassium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AKR6A5; HKvbeta2; HKvbeta2.1; HKvbeta2.2; K(+) channel subunit beta-2; K+ channel beta-2 subunit; KCNA2B; KV-BETA-2; MGC117289; potassium channel shaker chain beta 2; potassium channel, voltage gated subfamily A regulatory beta subunit 2; potassium voltage-gated channel, shaker-related subfamily, beta member 2; voltage-gated potassium channel subunit beta-2
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
GRCh3815,992,676 - 6,101,180 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl15,990,927 - 6,101,193 (+)EnsemblGRCh38hg38GRCh38
GRCh3716,052,736 - 6,161,240 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616,008,967 - 6,083,110 (+)NCBINCBI36Build 36hg18NCBI36
Build 3416,020,645 - 6,094,789NCBI
Celera15,201,212 - 5,275,339 (+)NCBICelera
Cytogenetic Map1p36.31NCBI
HuRef15,201,765 - 5,310,071 (+)NCBIHuRef
CHM1_116,041,041 - 6,149,632 (+)NCBICHM1_1
T2T-CHM13v2.015,518,502 - 5,626,866 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-O-palmitoyl-2-O-(5-oxovaleryl)-sn-glycero-3-phosphocholine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calciol  (ISO)
carmustine  (EXP)
choline  (ISO)
cisplatin  (EXP)
Cuprizon  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
epoxiconazole  (ISO)
etoposide  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
L-methionine  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
mitoxantrone  (EXP)
N,N-diethyl-m-toluamide  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nickel atom  (EXP)
ozone  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
permethrin  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sulforaphane  (EXP)
tamibarotene  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
11 pairs of ribs  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal eyebrow morphology  (IAGP)
Abnormal female external genitalia morphology  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal intestine morphology  (IAGP)
Abnormal repetitive mannerisms  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the neck  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Annular pancreas  (IAGP)
Aortic arch aneurysm  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Bifid ribs  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Constipation  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysphagia  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Foot polydactyly  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hirsutism  (IAGP)
Global developmental delay  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatic steatosis  (IAGP)
High hypermetropia  (IAGP)
Hip dysplasia  (IAGP)
Horizontal eyebrow  (IAGP)
Hydronephrosis  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Long philtrum  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lower limb asymmetry  (IAGP)
Macule  (IAGP)
Microcephaly  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Myopathy  (IAGP)
Narrow mouth  (IAGP)
Nephronophthisis  (IAGP)
Neuroblastoma  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ocular albinism  (IAGP)
Optic atrophy  (IAGP)
Patent ductus arteriosus  (IAGP)
Pointed chin  (IAGP)
Polyphagia  (IAGP)
Poor speech  (IAGP)
Pyloric stenosis  (IAGP)
Renal cyst  (IAGP)
Rib fusion  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short foot  (IAGP)
Short stature  (IAGP)
Spinal canal stenosis  (IAGP)
Strabismus  (IAGP)
Telangiectasia  (IAGP)
Tetralogy of Fallot  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
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
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7649300   PMID:8001150   PMID:8636142   PMID:8838324   PMID:9760292   PMID:10428084   PMID:10477520   PMID:10624965   PMID:11086297   PMID:12431995   PMID:12477932   PMID:12893943  
PMID:14702039   PMID:15489334   PMID:15592455   PMID:16344560   PMID:16710414   PMID:16713569   PMID:19953087   PMID:21873635   PMID:23264583   PMID:23390957   PMID:24332808   PMID:24952745  
PMID:25416956   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27287695   PMID:28514442   PMID:30652415   PMID:32041737   PMID:32109873   PMID:32249768   PMID:32513696   PMID:32812023  
PMID:32814053   PMID:33961781   PMID:35091471   PMID:35831314   PMID:35914814   PMID:36339263   PMID:36359834  


Genomics

Comparative Map Data
KCNAB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3815,992,676 - 6,101,180 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl15,990,927 - 6,101,193 (+)EnsemblGRCh38hg38GRCh38
GRCh3716,052,736 - 6,161,240 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616,008,967 - 6,083,110 (+)NCBINCBI36Build 36hg18NCBI36
Build 3416,020,645 - 6,094,789NCBI
Celera15,201,212 - 5,275,339 (+)NCBICelera
Cytogenetic Map1p36.31NCBI
HuRef15,201,765 - 5,310,071 (+)NCBIHuRef
CHM1_116,041,041 - 6,149,632 (+)NCBICHM1_1
T2T-CHM13v2.015,518,502 - 5,626,866 (+)NCBIT2T-CHM13v2.0
Kcnab2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394152,475,201 - 152,561,991 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4152,475,199 - 152,562,367 (-)EnsemblGRCm39 Ensembl
GRCm384152,390,744 - 152,477,549 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4152,390,742 - 152,477,910 (-)EnsemblGRCm38mm10GRCm38
MGSCv374151,764,853 - 151,851,588 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364151,234,544 - 151,321,279 (-)NCBIMGSCv36mm8
Celera4154,677,910 - 154,763,618 (-)NCBICelera
Cytogenetic Map4E2NCBI
cM Map483.08NCBI
Kcnab2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85168,182,228 - 168,270,760 (-)NCBIGRCr8
mRatBN7.25162,899,511 - 162,988,057 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5162,901,896 - 162,988,243 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5165,605,037 - 165,691,160 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05167,426,639 - 167,512,761 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05167,388,842 - 167,474,968 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05169,570,327 - 169,658,875 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5169,572,517 - 169,658,875 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05173,123,990 - 173,212,638 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45169,624,099 - 169,710,725 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15169,634,286 - 169,720,913 (-)NCBI
Celera5161,132,556 - 161,217,754 (-)NCBICelera
RH 3.4 Map51140.7RGD
Cytogenetic Map5q36NCBI
Kcnab2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554866,369,288 - 6,442,885 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554866,371,212 - 6,442,888 (-)NCBIChiLan1.0ChiLan1.0
KCNAB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21222,123,611 - 222,235,524 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11220,764,655 - 220,877,249 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v014,755,412 - 4,866,424 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.116,012,647 - 6,120,438 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl16,013,072 - 6,120,438 (+)Ensemblpanpan1.1panPan2
KCNAB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1559,936,432 - 60,021,945 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl559,936,528 - 60,021,957 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha559,947,614 - 60,032,655 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0560,152,884 - 60,238,334 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl560,152,939 - 60,237,934 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1560,152,983 - 60,238,041 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0560,019,378 - 60,104,720 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0560,420,808 - 60,506,161 (+)NCBIUU_Cfam_GSD_1.0
Kcnab2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505830,463,300 - 30,502,711 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936623940,678 - 985,388 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936623972,288 - 987,949 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNAB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl666,928,381 - 67,016,845 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1666,928,374 - 67,016,846 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2661,880,875 - 61,923,103 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNAB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120125,636,352 - 125,743,821 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20125,638,962 - 125,708,768 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605429,784,200 - 29,893,813 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnab2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248185,253,773 - 5,327,000 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248185,251,304 - 5,326,796 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNAB2
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1 copy number loss See cases [RCV000051086] Chr1:2844760..8007940 [GRCh38]
Chr1:2761325..8068000 [GRCh37]
Chr1:2751185..7990587 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 copy number loss See cases [RCV000051143] Chr1:844347..6477436 [GRCh38]
Chr1:779727..6537496 [GRCh37]
Chr1:769590..6460083 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] Chr1:844347..6231924 [GRCh38]
Chr1:779727..6291984 [GRCh37]
Chr1:769590..6214571 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.32-36.31(chr1:4799319-6129675)x3 copy number gain See cases [RCV000051784] Chr1:4799319..6129675 [GRCh38]
Chr1:4859379..6189735 [GRCh37]
Chr1:4759239..6112322 [NCBI36]
Chr1:1p36.32-36.31
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 copy number loss See cases [RCV000051995] Chr1:629044..7008678 [GRCh38]
Chr1:564424..7068738 [GRCh37]
Chr1:554287..6991325 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] Chr1:844347..7151129 [GRCh38]
Chr1:779727..7211189 [GRCh37]
Chr1:769590..7133776 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|See cases [RCV000053727] Chr1:5274008..9329925 [GRCh38]
Chr1:5334068..9389984 [GRCh37]
Chr1:5233928..9312571 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3438149-8171914)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|See cases [RCV000053718] Chr1:3438149..8171914 [GRCh38]
Chr1:3354713..8231974 [GRCh37]
Chr1:3344573..8154561 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1 copy number loss See cases [RCV000053720] Chr1:3472163..7842947 [GRCh38]
Chr1:3388727..7903007 [GRCh37]
Chr1:3378587..7825594 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
NM_001199862.1(KCNAB2):c.177C>T (p.Ser59=) single nucleotide variant Malignant melanoma [RCV000064851] Chr1:6051713 [GRCh38]
Chr1:6111773 [GRCh37]
Chr1:6034360 [NCBI36]
Chr1:1p36.31
not provided
NM_001199862.1(KCNAB2):c.617C>T (p.Ser206Phe) single nucleotide variant Malignant melanoma [RCV000064852] Chr1:6091278 [GRCh38]
Chr1:6151338 [GRCh37]
Chr1:6073925 [NCBI36]
Chr1:1p36.31
not provided
NM_001199862.2(KCNAB2):c.125C>T (p.Ala42Val) single nucleotide variant not provided [RCV002292720] Chr1:6051661 [GRCh38]
Chr1:6111721 [GRCh37]
Chr1:1p36.31
likely benign
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 copy number loss See cases [RCV000139404] Chr1:844353..6477474 [GRCh38]
Chr1:779733..6537534 [GRCh37]
Chr1:769596..6460121 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 copy number loss See cases [RCV000138896] Chr1:821713..7000838 [GRCh38]
Chr1:757093..7060898 [GRCh37]
Chr1:746956..6983485 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val) single nucleotide variant not provided [RCV000974071]|not specified [RCV000203075] Chr1:6098509 [GRCh38]
Chr1:6158569 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1 copy number loss See cases [RCV000141437] Chr1:2868477..7332569 [GRCh38]
Chr1:2785042..7392629 [GRCh37]
Chr1:2774902..7315216 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 copy number loss See cases [RCV000142651] Chr1:898721..7811306 [GRCh38]
Chr1:834101..7871366 [GRCh37]
Chr1:823964..7793953 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 copy number loss See cases [RCV000142709] Chr1:844347..7870545 [GRCh38]
Chr1:779727..7930605 [GRCh37]
Chr1:769590..7853192 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) copy number loss Primary dilated cardiomyopathy [RCV000626523] Chr1:834101..6076140 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_001199860.2(KCNAB2):c.20C>T (p.Thr7Met) single nucleotide variant Inborn genetic diseases [RCV003195620] Chr1:6040588 [GRCh38]
Chr1:6100648 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 copy number loss See cases [RCV000449148] Chr1:849466..6566086 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3 copy number gain See cases [RCV000447158] Chr1:2609223..2631378 [GRCh37]
Chr1:1p36.32-36.31
benign
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 copy number loss See cases [RCV000448061] Chr1:849466..7300178 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 copy number loss See cases [RCV000512052] Chr1:849466..6374209 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 copy number loss See cases [RCV000510494] Chr1:849466..6505278 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1 copy number loss See cases [RCV000510212] Chr1:2793822..7510850 [GRCh37]
Chr1:1p36.32-36.23
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 1p36.33-36.23(chr1:849466-7637060)x1 copy number loss See cases [RCV000511381] Chr1:849466..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.31(chr1:5962543-6062001)x4 copy number gain See cases [RCV000511414] Chr1:5962543..6062001 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001199862.2(KCNAB2):c.988G>T (p.Gly330Cys) single nucleotide variant Inborn genetic diseases [RCV003276677] Chr1:6096675 [GRCh38]
Chr1:6156735 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_001199862.2(KCNAB2):c.535C>T (p.Arg179Ter) single nucleotide variant Inborn genetic diseases [RCV000623902] Chr1:6090409 [GRCh38]
Chr1:6150469 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 copy number loss not provided [RCV000684534] Chr1:849466..7305595 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
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 1p36.32-36.23(chr1:4965631-8106987)x1 copy number loss not provided [RCV000736366] Chr1:4965631..8106987 [GRCh37]
Chr1:1p36.32-36.23
pathogenic
GRCh37/hg19 1p36.31(chr1:6065164-6066517)x0 copy number loss not provided [RCV000736368] Chr1:6065164..6066517 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 copy number loss not provided [RCV000736294] Chr1:47851..6659872 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 copy number loss not provided [RCV000736304] Chr1:82154..7936272 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.31(chr1:6065164-6065532)x0 copy number loss not provided [RCV000736367] Chr1:6065164..6065532 [GRCh37]
Chr1:1p36.31
benign
NM_001199862.2(KCNAB2):c.552C>T (p.Tyr184=) single nucleotide variant not provided [RCV000918245] Chr1:6090426 [GRCh38]
Chr1:6150486 [GRCh37]
Chr1:1p36.31
likely benign
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 copy number loss See cases [RCV000790584] Chr1:82154..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_003636.4(KCNAB2):c.105G>A (p.Gln35=) single nucleotide variant not provided [RCV000926840] Chr1:6041858 [GRCh38]
Chr1:6101918 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.834G>A (p.Pro278=) single nucleotide variant not provided [RCV000892776] Chr1:6095424 [GRCh38]
Chr1:6155484 [GRCh37]
Chr1:1p36.31
benign
NM_001199862.2(KCNAB2):c.380+10_380+14del deletion not provided [RCV000946438] Chr1:6082282..6082286 [GRCh38]
Chr1:6142342..6142346 [GRCh37]
Chr1:1p36.31
benign
NM_001199862.2(KCNAB2):c.390G>A (p.Val130=) single nucleotide variant not provided [RCV000946439] Chr1:6085213 [GRCh38]
Chr1:6145273 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_001199862.2(KCNAB2):c.498G>A (p.Arg166=) single nucleotide variant not provided [RCV000965534] Chr1:6089035 [GRCh38]
Chr1:6149095 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.263-6T>C single nucleotide variant not provided [RCV000938157] Chr1:6073727 [GRCh38]
Chr1:6133787 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.927C>A (p.Pro309=) single nucleotide variant not provided [RCV000906793] Chr1:6095603 [GRCh38]
Chr1:6155663 [GRCh37]
Chr1:1p36.31
benign
NM_001199862.2(KCNAB2):c.601+5G>A single nucleotide variant not provided [RCV000921650] Chr1:6090480 [GRCh38]
Chr1:6150540 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.1032C>T (p.Ala344=) single nucleotide variant not provided [RCV000924528] Chr1:6096719 [GRCh38]
Chr1:6156779 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_001199862.2(KCNAB2):c.987G>C (p.Glu329Asp) single nucleotide variant Inborn genetic diseases [RCV003266854] Chr1:6096674 [GRCh38]
Chr1:6156734 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) copy number loss Chromosome 1p36 deletion syndrome [RCV000767774] Chr1:823964..6828363 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_001199862.2(KCNAB2):c.768C>G (p.Thr256=) single nucleotide variant not provided [RCV000981204] Chr1:6095358 [GRCh38]
Chr1:6155418 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.1161C>T (p.Val387=) single nucleotide variant not provided [RCV000918537] Chr1:6098487 [GRCh38]
Chr1:6158547 [GRCh37]
Chr1:1p36.31
likely benign
GRCh37/hg19 1p36.31(chr1:5884375-6102915)x4 copy number gain not provided [RCV000849992] Chr1:5884375..6102915 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.514+8C>T single nucleotide variant not provided [RCV001171745] Chr1:6089059 [GRCh38]
Chr1:6149119 [GRCh37]
Chr1:1p36.31
likely benign
GRCh37/hg19 1p36.31(chr1:6103234-6230157)x3 copy number gain not provided [RCV000845607] Chr1:6103234..6230157 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.1159-5C>T single nucleotide variant not provided [RCV000894391] Chr1:6098480 [GRCh38]
Chr1:6158540 [GRCh37]
Chr1:1p36.31
benign
NM_001199862.2(KCNAB2):c.301-7G>A single nucleotide variant not provided [RCV000931210] Chr1:6082188 [GRCh38]
Chr1:6142248 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.949-9C>T single nucleotide variant not provided [RCV000970691] Chr1:6096627 [GRCh38]
Chr1:6156687 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.1101C>T (p.Ser367=) single nucleotide variant not provided [RCV000981336] Chr1:6097300 [GRCh38]
Chr1:6157360 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.402C>T (p.Asn134=) single nucleotide variant not provided [RCV000910884] Chr1:6085225 [GRCh38]
Chr1:6145285 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.279C>T (p.Phe93=) single nucleotide variant not provided [RCV000888609] Chr1:6073749 [GRCh38]
Chr1:6133809 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.705G>A (p.Thr235=) single nucleotide variant not provided [RCV000910928] Chr1:6094458 [GRCh38]
Chr1:6154518 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.732+5G>A single nucleotide variant not provided [RCV000888610] Chr1:6094490 [GRCh38]
Chr1:6154550 [GRCh37]
Chr1:1p36.31
benign
NM_001199862.2(KCNAB2):c.771G>A (p.Pro257=) single nucleotide variant not provided [RCV000911354] Chr1:6095361 [GRCh38]
Chr1:6155421 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.1170A>G (p.Lys390=) single nucleotide variant not provided [RCV000955654] Chr1:6098496 [GRCh38]
Chr1:6158556 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.263-7C>T single nucleotide variant not provided [RCV000912309] Chr1:6073726 [GRCh38]
Chr1:6133786 [GRCh37]
Chr1:1p36.31
likely benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 copy number loss not provided [RCV001005057] Chr1:849466..7786545 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_001199862.2(KCNAB2):c.1176A>G (p.Ser392=) single nucleotide variant not provided [RCV001707948] Chr1:6098502 [GRCh38]
Chr1:6158562 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Harel-Yoon syndrome [RCV001254115] Chr1:762080..7309686 [GRCh37]
Chr1:1p36.33-36.23
likely pathogenic
NM_001199862.2(KCNAB2):c.113G>A (p.Arg38Gln) single nucleotide variant Inborn genetic diseases [RCV002543016]|Seizure [RCV001291655] Chr1:6051649 [GRCh38]
Chr1:6111709 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV001535693] Chr1:2420003..8155935 [GRCh37]
Chr1:1p36.32-36.23
not provided
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13
pathogenic
NC_000001.10:g.(?_6046195)_(6101952_?)dup duplication Nephronophthisis [RCV002026178] Chr1:6046195..6101952 [GRCh37]
Chr1:1p36.31
uncertain significance
NC_000001.10:g.(?_5923325)_(6537631_?)del deletion Nephronophthisis [RCV001972790] Chr1:5923325..6537631 [GRCh37]
Chr1:1p36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV002279763] Chr1:834101..7930605 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1 copy number loss not provided [RCV002473853] Chr1:5505039..7027995 [GRCh37]
Chr1:1p36.31
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_001199862.2(KCNAB2):c.22G>A (p.Glu8Lys) single nucleotide variant Inborn genetic diseases [RCV002902220] Chr1:6051558 [GRCh38]
Chr1:6111618 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.21C>G (p.Ser7Arg) single nucleotide variant Inborn genetic diseases [RCV002682007] Chr1:6051557 [GRCh38]
Chr1:6111617 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.31C>T (p.Arg11Trp) single nucleotide variant Inborn genetic diseases [RCV002734093] Chr1:6051567 [GRCh38]
Chr1:6111627 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.112C>T (p.Arg38Trp) single nucleotide variant Inborn genetic diseases [RCV002703829] Chr1:6051648 [GRCh38]
Chr1:6111708 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.1121A>G (p.Asn374Ser) single nucleotide variant Inborn genetic diseases [RCV002822756] Chr1:6097320 [GRCh38]
Chr1:6157380 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.661A>G (p.Met221Val) single nucleotide variant Inborn genetic diseases [RCV002708803] Chr1:6094414 [GRCh38]
Chr1:6154474 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.787G>A (p.Ala263Thr) single nucleotide variant Inborn genetic diseases [RCV002651998] Chr1:6095377 [GRCh38]
Chr1:6155437 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.994C>T (p.Arg332Cys) single nucleotide variant Inborn genetic diseases [RCV002747543] Chr1:6096681 [GRCh38]
Chr1:6156741 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.710G>A (p.Arg237His) single nucleotide variant Inborn genetic diseases [RCV002808699] Chr1:6094463 [GRCh38]
Chr1:6154523 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.59A>G (p.Glu20Gly) single nucleotide variant Inborn genetic diseases [RCV002879049] Chr1:6051595 [GRCh38]
Chr1:6111655 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.1009C>A (p.Leu337Met) single nucleotide variant Inborn genetic diseases [RCV002679726] Chr1:6096696 [GRCh38]
Chr1:6156756 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.1187T>G (p.Ile396Ser) single nucleotide variant Inborn genetic diseases [RCV003212947] Chr1:6098513 [GRCh38]
Chr1:6158573 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.574C>T (p.Arg192Cys) single nucleotide variant Inborn genetic diseases [RCV003194856] Chr1:6090448 [GRCh38]
Chr1:6150508 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.199C>T (p.Arg67Cys) single nucleotide variant Inborn genetic diseases [RCV003206855] Chr1:6051735 [GRCh38]
Chr1:6111795 [GRCh37]
Chr1:1p36.31
uncertain significance
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NM_001199862.2(KCNAB2):c.124G>A (p.Ala42Thr) single nucleotide variant Inborn genetic diseases [RCV003217340] Chr1:6051660 [GRCh38]
Chr1:6111720 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454) copy number loss Chromosome 1p36 deletion syndrome [RCV003319574] Chr1:1957148..6553454 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.31(chr1:5990505-6059229)x1 copy number loss not provided [RCV003483016] Chr1:5990505..6059229 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001199862.2(KCNAB2):c.425+6G>A single nucleotide variant not provided [RCV003412715] Chr1:6085254 [GRCh38]
Chr1:6145314 [GRCh37]
Chr1:1p36.31
likely benign
NM_001199862.2(KCNAB2):c.425+1065G>A single nucleotide variant not provided [RCV003412716] Chr1:6086313 [GRCh38]
Chr1:6146373 [GRCh37]
Chr1:1p36.31
benign
NM_001199862.2(KCNAB2):c.732+44C>T single nucleotide variant not provided [RCV003412717] Chr1:6094529 [GRCh38]
Chr1:6154589 [GRCh37]
Chr1:1p36.31
likely benign
NM_003636.4(KCNAB2):c.17C>T (p.Thr6Met) single nucleotide variant not provided [RCV003412714] Chr1:6040585 [GRCh38]
Chr1:6100645 [GRCh37]
Chr1:1p36.31
likely benign
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12255
Count of miRNA genes:1171
Interacting mature miRNAs:1557
Transcripts:ENST00000164247, ENST00000341524, ENST00000352527, ENST00000378083, ENST00000378087, ENST00000378092, ENST00000378097, ENST00000378111, ENST00000389632, ENST00000428161, ENST00000435937, ENST00000445501, ENST00000458166, ENST00000459822, ENST00000462676, ENST00000472700, ENST00000478098, ENST00000481789, ENST00000493807, ENST00000602612
Prediction methods:Microtar, 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
G34855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,119,071 - 6,119,194UniSTSGRCh37
Build 3616,041,658 - 6,041,781RGDNCBI36
Celera15,233,884 - 5,234,007RGD
Cytogenetic Map1p36.3UniSTS
HuRef15,267,885 - 5,268,008UniSTS
KCNAB2_2542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,159,792 - 6,160,623UniSTSGRCh37
Build 3616,082,379 - 6,083,210RGDNCBI36
Celera15,274,608 - 5,275,439RGD
HuRef15,308,608 - 5,309,439UniSTS
G16215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,119,125 - 6,119,254UniSTSGRCh37
Build 3616,041,712 - 6,041,841RGDNCBI36
Celera15,233,938 - 5,234,067RGD
Cytogenetic Map1p36.3UniSTS
HuRef15,267,939 - 5,268,068UniSTS
SHGC-74152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,161,034 - 6,161,167UniSTSGRCh37
Build 3616,083,621 - 6,083,754RGDNCBI36
Celera15,275,851 - 5,275,984RGD
Cytogenetic Map1p36.3UniSTS
HuRef15,309,851 - 5,309,985UniSTS
TNG Radiation Hybrid Map12428.0UniSTS
GeneMap99-GB4 RH Map125.38UniSTS
SHGC-74145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,146,120 - 6,146,284UniSTSGRCh37
Build 3616,068,707 - 6,068,871RGDNCBI36
Celera15,260,940 - 5,261,104RGD
Cytogenetic Map1p36.3UniSTS
HuRef15,294,940 - 5,295,104UniSTS
TNG Radiation Hybrid Map12424.0UniSTS
GeneMap99-GB4 RH Map123.89UniSTS


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 296 986 347 49 1815 41 614 221 2723 113 127 788 14 425 242
Low 2139 2001 1374 571 135 420 3726 1953 995 298 1324 823 158 1 779 2530 5 2
Below cutoff 3 2 4 4 1 4 16 22 11 8 6 1 16

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF029749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF044253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW327942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI907219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS252321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS252323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA340179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U33429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000164247   ⟹   ENSP00000164247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,034,283 - 6,101,179 (+)Ensembl
RefSeq Acc Id: ENST00000341524   ⟹   ENSP00000340824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,753 - 6,101,190 (+)Ensembl
RefSeq Acc Id: ENST00000352527   ⟹   ENSP00000318772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,163 - 6,101,178 (+)Ensembl
RefSeq Acc Id: ENST00000378083   ⟹   ENSP00000367323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,045,888 - 6,101,180 (+)Ensembl
RefSeq Acc Id: ENST00000378092   ⟹   ENSP00000367332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,034,980 - 6,098,723 (+)Ensembl
RefSeq Acc Id: ENST00000378097   ⟹   ENSP00000367337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,262 - 6,101,193 (+)Ensembl
RefSeq Acc Id: ENST00000378111   ⟹   ENSP00000367351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,991,320 - 6,090,446 (+)Ensembl
RefSeq Acc Id: ENST00000389632   ⟹   ENSP00000374283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,714 - 6,095,393 (+)Ensembl
RefSeq Acc Id: ENST00000428161   ⟹   ENSP00000400285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,333 - 6,101,180 (+)Ensembl
RefSeq Acc Id: ENST00000435937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,685 - 6,074,791 (+)Ensembl
RefSeq Acc Id: ENST00000445501   ⟹   ENSP00000398395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,703 - 6,089,007 (+)Ensembl
RefSeq Acc Id: ENST00000458166   ⟹   ENSP00000396167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,046,114 - 6,098,855 (+)Ensembl
RefSeq Acc Id: ENST00000459822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,035,917 - 6,041,762 (+)Ensembl
RefSeq Acc Id: ENST00000462676   ⟹   ENSP00000465785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,760 - 6,086,371 (+)Ensembl
RefSeq Acc Id: ENST00000472700   ⟹   ENSP00000464860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,035,090 - 6,086,362 (+)Ensembl
RefSeq Acc Id: ENST00000478098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,706 - 6,073,847 (+)Ensembl
RefSeq Acc Id: ENST00000481789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,327 - 6,101,099 (+)Ensembl
RefSeq Acc Id: ENST00000493807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,693 - 6,007,660 (+)Ensembl
RefSeq Acc Id: ENST00000602612   ⟹   ENSP00000473602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,320 - 6,098,561 (+)Ensembl
RefSeq Acc Id: ENST00000652845   ⟹   ENSP00000499643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,347 - 6,082,816 (+)Ensembl
RefSeq Acc Id: ENST00000652911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,094,316 - 6,101,180 (+)Ensembl
RefSeq Acc Id: ENST00000653262   ⟹   ENSP00000499434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,711 - 6,101,178 (+)Ensembl
RefSeq Acc Id: ENST00000653635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,275 - 6,101,180 (+)Ensembl
RefSeq Acc Id: ENST00000654144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,731 - 6,098,508 (+)Ensembl
RefSeq Acc Id: ENST00000655548   ⟹   ENSP00000499615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,990,927 - 6,090,419 (+)Ensembl
RefSeq Acc Id: ENST00000655703   ⟹   ENSP00000499237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,361 - 6,072,788 (+)Ensembl
RefSeq Acc Id: ENST00000655748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,675 - 6,018,968 (+)Ensembl
RefSeq Acc Id: ENST00000656198   ⟹   ENSP00000499563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,294 - 6,086,363 (+)Ensembl
RefSeq Acc Id: ENST00000656607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,087,501 - 6,092,187 (+)Ensembl
RefSeq Acc Id: ENST00000656746   ⟹   ENSP00000499461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,334 - 6,089,016 (+)Ensembl
RefSeq Acc Id: ENST00000657222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,723 - 6,018,963 (+)Ensembl
RefSeq Acc Id: ENST00000658691   ⟹   ENSP00000499474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,671 - 6,082,218 (+)Ensembl
RefSeq Acc Id: ENST00000658883   ⟹   ENSP00000499302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,671 - 6,082,236 (+)Ensembl
RefSeq Acc Id: ENST00000661248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,276 - 6,091,169 (+)Ensembl
RefSeq Acc Id: ENST00000662147   ⟹   ENSP00000499337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,046,114 - 6,087,511 (+)Ensembl
RefSeq Acc Id: ENST00000662363   ⟹   ENSP00000499349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,065,753 - 6,100,023 (+)Ensembl
RefSeq Acc Id: ENST00000662815   ⟹   ENSP00000499260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,094,400 - 6,101,004 (+)Ensembl
RefSeq Acc Id: ENST00000663169   ⟹   ENSP00000499749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,272 - 6,086,366 (+)Ensembl
RefSeq Acc Id: ENST00000663419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,090,296 - 6,096,700 (+)Ensembl
RefSeq Acc Id: ENST00000663671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,073,415 - 6,087,511 (+)Ensembl
RefSeq Acc Id: ENST00000665338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,345 - 6,101,102 (+)Ensembl
RefSeq Acc Id: ENST00000666163   ⟹   ENSP00000499370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,639 - 6,101,188 (+)Ensembl
RefSeq Acc Id: ENST00000666299   ⟹   ENSP00000499596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,026,345 - 6,086,363 (+)Ensembl
RefSeq Acc Id: ENST00000668559   ⟹   ENSP00000499361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,034,677 - 6,098,213 (+)Ensembl
RefSeq Acc Id: ENST00000668706   ⟹   ENSP00000499564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,711 - 6,089,051 (+)Ensembl
RefSeq Acc Id: ENST00000669250   ⟹   ENSP00000499485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,027,297 - 6,101,180 (+)Ensembl
RefSeq Acc Id: ENST00000671076   ⟹   ENSP00000499307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16,094,483 - 6,101,187 (+)Ensembl
RefSeq Acc Id: ENST00000671676   ⟹   ENSP00000499496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15,992,666 - 6,101,178 (+)Ensembl
RefSeq Acc Id: NM_001199860   ⟹   NP_001186789
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,034,688 - 6,101,180 (+)NCBI
GRCh3716,052,358 - 6,161,253 (+)ENTREZGENE
HuRef15,201,765 - 5,310,071 (+)ENTREZGENE
CHM1_116,082,718 - 6,149,632 (+)NCBI
T2T-CHM13v2.015,560,361 - 5,626,866 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199861   ⟹   NP_001186790
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815,992,676 - 6,101,180 (+)NCBI
GRCh3716,052,358 - 6,161,253 (+)ENTREZGENE
HuRef15,201,765 - 5,310,071 (+)ENTREZGENE
CHM1_116,041,041 - 6,149,632 (+)NCBI
T2T-CHM13v2.015,518,502 - 5,626,866 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199862   ⟹   NP_001186791
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,045,888 - 6,101,180 (+)NCBI
GRCh3716,052,358 - 6,161,253 (+)ENTREZGENE
HuRef15,201,765 - 5,310,071 (+)ENTREZGENE
CHM1_116,094,354 - 6,149,632 (+)NCBI
T2T-CHM13v2.015,571,566 - 5,626,866 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199863   ⟹   NP_001186792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,045,888 - 6,101,180 (+)NCBI
GRCh3716,052,358 - 6,161,253 (+)ENTREZGENE
HuRef15,201,765 - 5,310,071 (+)ENTREZGENE
CHM1_116,094,547 - 6,149,632 (+)NCBI
T2T-CHM13v2.015,571,566 - 5,626,866 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003636   ⟹   NP_003627
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,026,333 - 6,101,180 (+)NCBI
GRCh3716,052,358 - 6,161,253 (+)ENTREZGENE
Build 3616,008,967 - 6,083,110 (+)NCBI Archive
Celera15,201,212 - 5,275,339 (+)RGD
HuRef15,201,765 - 5,310,071 (+)ENTREZGENE
CHM1_116,074,428 - 6,149,632 (+)NCBI
T2T-CHM13v2.015,552,015 - 5,626,866 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172130   ⟹   NP_742128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,026,333 - 6,101,180 (+)NCBI
GRCh3716,052,358 - 6,161,253 (+)ENTREZGENE
Build 3616,008,967 - 6,083,110 (+)NCBI Archive
Celera15,201,212 - 5,275,339 (+)RGD
HuRef15,201,765 - 5,310,071 (+)ENTREZGENE
CHM1_116,074,428 - 6,149,632 (+)NCBI
T2T-CHM13v2.015,552,015 - 5,626,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263514   ⟹   XP_005263571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815,992,676 - 6,101,180 (+)NCBI
GRCh3716,052,358 - 6,161,253 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542321   ⟹   XP_011540623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815,992,676 - 6,101,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542322   ⟹   XP_011540624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,026,333 - 6,101,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002620   ⟹   XP_016858109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,045,888 - 6,101,180 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432866   ⟹   XP_047288822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815,992,676 - 6,101,180 (+)NCBI
RefSeq Acc Id: XM_047432867   ⟹   XP_047288823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,035,061 - 6,101,180 (+)NCBI
RefSeq Acc Id: XM_047432870   ⟹   XP_047288826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815,992,676 - 6,101,180 (+)NCBI
RefSeq Acc Id: XM_047432872   ⟹   XP_047288828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815,992,676 - 6,101,180 (+)NCBI
RefSeq Acc Id: XM_047432878   ⟹   XP_047288834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815,992,676 - 6,094,380 (+)NCBI
RefSeq Acc Id: XM_054339293   ⟹   XP_054195268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.015,571,566 - 5,626,866 (+)NCBI
RefSeq Acc Id: XM_054339294   ⟹   XP_054195269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.015,518,502 - 5,626,866 (+)NCBI
RefSeq Acc Id: XM_054339295   ⟹   XP_054195270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.015,552,015 - 5,626,866 (+)NCBI
RefSeq Acc Id: XM_054339296   ⟹   XP_054195271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.015,518,502 - 5,626,866 (+)NCBI
RefSeq Acc Id: XM_054339297   ⟹   XP_054195272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.015,560,706 - 5,626,866 (+)NCBI
RefSeq Acc Id: XM_054339298   ⟹   XP_054195273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.015,518,502 - 5,626,866 (+)NCBI
RefSeq Acc Id: XM_054339299   ⟹   XP_054195274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.015,518,502 - 5,626,866 (+)NCBI
RefSeq Acc Id: XM_054339300   ⟹   XP_054195275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.015,518,502 - 5,626,866 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001186789 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186790 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186791 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186792 (Get FASTA)   NCBI Sequence Viewer  
  NP_003627 (Get FASTA)   NCBI Sequence Viewer  
  NP_742128 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263571 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540623 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540624 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858109 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288822 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288823 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288826 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288828 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288834 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195268 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195269 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195270 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195272 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195273 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195274 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195275 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB84170 (Get FASTA)   NCBI Sequence Viewer  
  AAB99859 (Get FASTA)   NCBI Sequence Viewer  
  AAC50955 (Get FASTA)   NCBI Sequence Viewer  
  AAI10352 (Get FASTA)   NCBI Sequence Viewer  
  AAI26425 (Get FASTA)   NCBI Sequence Viewer  
  AAI30414 (Get FASTA)   NCBI Sequence Viewer  
  BAD18431 (Get FASTA)   NCBI Sequence Viewer  
  BAF82508 (Get FASTA)   NCBI Sequence Viewer  
  BAF82733 (Get FASTA)   NCBI Sequence Viewer  
  BAF98702 (Get FASTA)   NCBI Sequence Viewer  
  BAF98749 (Get FASTA)   NCBI Sequence Viewer  
  BAG35312 (Get FASTA)   NCBI Sequence Viewer  
  BAG35723 (Get FASTA)   NCBI Sequence Viewer  
  BAG54071 (Get FASTA)   NCBI Sequence Viewer  
  CAG47060 (Get FASTA)   NCBI Sequence Viewer  
  CAG47082 (Get FASTA)   NCBI Sequence Viewer  
  CAJ58415 (Get FASTA)   NCBI Sequence Viewer  
  CAJ58416 (Get FASTA)   NCBI Sequence Viewer  
  EAW71512 (Get FASTA)   NCBI Sequence Viewer  
  EAW71513 (Get FASTA)   NCBI Sequence Viewer  
  EAW71514 (Get FASTA)   NCBI Sequence Viewer  
  EAW71515 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000164247
  ENSP00000164247.1
  ENSP00000318772
  ENSP00000318772.1
  ENSP00000340824.2
  ENSP00000367323
  ENSP00000367323.3
  ENSP00000367332
  ENSP00000367332.2
  ENSP00000367337
  ENSP00000367337.1
  ENSP00000367351
  ENSP00000367351.2
  ENSP00000374283.5
  ENSP00000396167
  ENSP00000396167.2
  ENSP00000398395.2
  ENSP00000400285
  ENSP00000400285.2
  ENSP00000464860.2
  ENSP00000465785.2
  ENSP00000473602
  ENSP00000473602.1
  ENSP00000499237.1
  ENSP00000499260.1
  ENSP00000499302.1
  ENSP00000499307.1
  ENSP00000499337.1
  ENSP00000499349.1
  ENSP00000499361
  ENSP00000499361.1
  ENSP00000499370
  ENSP00000499370.1
  ENSP00000499434.1
  ENSP00000499461.1
  ENSP00000499474.1
  ENSP00000499485.1
  ENSP00000499496
  ENSP00000499496.1
  ENSP00000499563.1
  ENSP00000499564.1
  ENSP00000499596.1
  ENSP00000499615.1
  ENSP00000499643.1
  ENSP00000499749.1
GenBank Protein Q13303 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003627   ⟸   NM_003636
- Peptide Label: isoform 1
- UniProtKB: Q6ZNE4 (UniProtKB/Swiss-Prot),   Q5TG83 (UniProtKB/Swiss-Prot),   Q5TG82 (UniProtKB/Swiss-Prot),   Q2YD85 (UniProtKB/Swiss-Prot),   O43659 (UniProtKB/Swiss-Prot),   B0AZR7 (UniProtKB/Swiss-Prot),   A8K1A4 (UniProtKB/Swiss-Prot),   A0AVM9 (UniProtKB/Swiss-Prot),   Q99411 (UniProtKB/Swiss-Prot),   Q13303 (UniProtKB/Swiss-Prot),   A8K1X9 (UniProtKB/TrEMBL),   B2R615 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_742128   ⟸   NM_172130
- Peptide Label: isoform 2
- UniProtKB: B2R776 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186790   ⟸   NM_001199861
- Peptide Label: isoform 1
- UniProtKB: Q6ZNE4 (UniProtKB/Swiss-Prot),   Q5TG83 (UniProtKB/Swiss-Prot),   Q5TG82 (UniProtKB/Swiss-Prot),   Q2YD85 (UniProtKB/Swiss-Prot),   O43659 (UniProtKB/Swiss-Prot),   B0AZR7 (UniProtKB/Swiss-Prot),   A8K1A4 (UniProtKB/Swiss-Prot),   A0AVM9 (UniProtKB/Swiss-Prot),   Q99411 (UniProtKB/Swiss-Prot),   Q13303 (UniProtKB/Swiss-Prot),   A8K1X9 (UniProtKB/TrEMBL),   B2R615 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186789   ⟸   NM_001199860
- Peptide Label: isoform 1
- UniProtKB: Q6ZNE4 (UniProtKB/Swiss-Prot),   Q5TG83 (UniProtKB/Swiss-Prot),   Q5TG82 (UniProtKB/Swiss-Prot),   Q2YD85 (UniProtKB/Swiss-Prot),   O43659 (UniProtKB/Swiss-Prot),   B0AZR7 (UniProtKB/Swiss-Prot),   A8K1A4 (UniProtKB/Swiss-Prot),   A0AVM9 (UniProtKB/Swiss-Prot),   Q99411 (UniProtKB/Swiss-Prot),   Q13303 (UniProtKB/Swiss-Prot),   A8K1X9 (UniProtKB/TrEMBL),   B2R615 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186791   ⟸   NM_001199862
- Peptide Label: isoform 3
- UniProtKB: B2R776 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186792   ⟸   NM_001199863
- Peptide Label: isoform 4
- UniProtKB: B0AZM0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263571   ⟸   XM_005263514
- Peptide Label: isoform X4
- UniProtKB: B2R776 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540623   ⟸   XM_011542321
- Peptide Label: isoform X2
- UniProtKB: A0A590UJJ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540624   ⟸   XM_011542322
- Peptide Label: isoform X2
- UniProtKB: A0A590UJJ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858109   ⟸   XM_017002620
- Peptide Label: isoform X1
- UniProtKB: B0AZM0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000465785   ⟸   ENST00000462676
RefSeq Acc Id: ENSP00000499349   ⟸   ENST00000662363
RefSeq Acc Id: ENSP00000499337   ⟸   ENST00000662147
RefSeq Acc Id: ENSP00000499260   ⟸   ENST00000662815
RefSeq Acc Id: ENSP00000499749   ⟸   ENST00000663169
RefSeq Acc Id: ENSP00000400285   ⟸   ENST00000428161
RefSeq Acc Id: ENSP00000164247   ⟸   ENST00000164247
RefSeq Acc Id: ENSP00000374283   ⟸   ENST00000389632
RefSeq Acc Id: ENSP00000499596   ⟸   ENST00000666299
RefSeq Acc Id: ENSP00000499370   ⟸   ENST00000666163
RefSeq Acc Id: ENSP00000499643   ⟸   ENST00000652845
RefSeq Acc Id: ENSP00000367351   ⟸   ENST00000378111
RefSeq Acc Id: ENSP00000367332   ⟸   ENST00000378092
RefSeq Acc Id: ENSP00000367337   ⟸   ENST00000378097
RefSeq Acc Id: ENSP00000367323   ⟸   ENST00000378083
RefSeq Acc Id: ENSP00000499434   ⟸   ENST00000653262
RefSeq Acc Id: ENSP00000499361   ⟸   ENST00000668559
RefSeq Acc Id: ENSP00000499564   ⟸   ENST00000668706
RefSeq Acc Id: ENSP00000396167   ⟸   ENST00000458166
RefSeq Acc Id: ENSP00000499237   ⟸   ENST00000655703
RefSeq Acc Id: ENSP00000499615   ⟸   ENST00000655548
RefSeq Acc Id: ENSP00000499485   ⟸   ENST00000669250
RefSeq Acc Id: ENSP00000398395   ⟸   ENST00000445501
RefSeq Acc Id: ENSP00000473602   ⟸   ENST00000602612
RefSeq Acc Id: ENSP00000318772   ⟸   ENST00000352527
RefSeq Acc Id: ENSP00000499461   ⟸   ENST00000656746
RefSeq Acc Id: ENSP00000499563   ⟸   ENST00000656198
RefSeq Acc Id: ENSP00000464860   ⟸   ENST00000472700
RefSeq Acc Id: ENSP00000499302   ⟸   ENST00000658883
RefSeq Acc Id: ENSP00000499474   ⟸   ENST00000658691
RefSeq Acc Id: ENSP00000340824   ⟸   ENST00000341524
RefSeq Acc Id: ENSP00000499307   ⟸   ENST00000671076
RefSeq Acc Id: ENSP00000499496   ⟸   ENST00000671676
RefSeq Acc Id: XP_047288822   ⟸   XM_047432866
- Peptide Label: isoform X2
- UniProtKB: A0A590UJJ4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288826   ⟸   XM_047432870
- Peptide Label: isoform X3
- UniProtKB: Q6ZNE4 (UniProtKB/Swiss-Prot),   Q5TG83 (UniProtKB/Swiss-Prot),   Q5TG82 (UniProtKB/Swiss-Prot),   Q2YD85 (UniProtKB/Swiss-Prot),   Q13303 (UniProtKB/Swiss-Prot),   O43659 (UniProtKB/Swiss-Prot),   B0AZR7 (UniProtKB/Swiss-Prot),   A8K1A4 (UniProtKB/Swiss-Prot),   A0AVM9 (UniProtKB/Swiss-Prot),   Q99411 (UniProtKB/Swiss-Prot),   A8K1X9 (UniProtKB/TrEMBL),   B2R615 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288828   ⟸   XM_047432872
- Peptide Label: isoform X4
- UniProtKB: B2R776 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288834   ⟸   XM_047432878
- Peptide Label: isoform X5
- UniProtKB: Q5TG84 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288823   ⟸   XM_047432867
- Peptide Label: isoform X3
- UniProtKB: Q6ZNE4 (UniProtKB/Swiss-Prot),   Q5TG83 (UniProtKB/Swiss-Prot),   Q5TG82 (UniProtKB/Swiss-Prot),   Q2YD85 (UniProtKB/Swiss-Prot),   Q13303 (UniProtKB/Swiss-Prot),   O43659 (UniProtKB/Swiss-Prot),   B0AZR7 (UniProtKB/Swiss-Prot),   A8K1A4 (UniProtKB/Swiss-Prot),   A0AVM9 (UniProtKB/Swiss-Prot),   Q99411 (UniProtKB/Swiss-Prot),   A8K1X9 (UniProtKB/TrEMBL),   B2R615 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195271   ⟸   XM_054339296
- Peptide Label: isoform X2
- UniProtKB: A0A590UJJ4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195273   ⟸   XM_054339298
- Peptide Label: isoform X3
- UniProtKB: Q6ZNE4 (UniProtKB/Swiss-Prot),   Q5TG83 (UniProtKB/Swiss-Prot),   Q5TG82 (UniProtKB/Swiss-Prot),   Q2YD85 (UniProtKB/Swiss-Prot),   Q13303 (UniProtKB/Swiss-Prot),   O43659 (UniProtKB/Swiss-Prot),   B0AZR7 (UniProtKB/Swiss-Prot),   A8K1A4 (UniProtKB/Swiss-Prot),   A0AVM9 (UniProtKB/Swiss-Prot),   Q99411 (UniProtKB/Swiss-Prot),   A8K1X9 (UniProtKB/TrEMBL),   B2R615 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195275   ⟸   XM_054339300
- Peptide Label: isoform X4
- UniProtKB: B2R776 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195269   ⟸   XM_054339294
- Peptide Label: isoform X2
- UniProtKB: A0A590UJJ4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195274   ⟸   XM_054339299
- Peptide Label: isoform X4
- UniProtKB: B2R776 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195270   ⟸   XM_054339295
- Peptide Label: isoform X2
- UniProtKB: A0A590UJJ4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195272   ⟸   XM_054339297
- Peptide Label: isoform X3
- UniProtKB: Q6ZNE4 (UniProtKB/Swiss-Prot),   Q5TG83 (UniProtKB/Swiss-Prot),   Q5TG82 (UniProtKB/Swiss-Prot),   Q2YD85 (UniProtKB/Swiss-Prot),   Q13303 (UniProtKB/Swiss-Prot),   O43659 (UniProtKB/Swiss-Prot),   B0AZR7 (UniProtKB/Swiss-Prot),   A8K1A4 (UniProtKB/Swiss-Prot),   A0AVM9 (UniProtKB/Swiss-Prot),   Q99411 (UniProtKB/Swiss-Prot),   A8K1X9 (UniProtKB/TrEMBL),   B2R615 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195268   ⟸   XM_054339293
- Peptide Label: isoform X1
- UniProtKB: B0AZM0 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13303-F1-model_v2 AlphaFold Q13303 1-367 view protein structure

Promoters
RGD ID:6853884
Promoter ID:EPDNEW_H107
Type:initiation region
Name:KCNAB2_2
Description:potassium voltage-gated channel subfamily A regulatory beta subunit2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H109  EPDNEW_H110  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815,992,424 - 5,992,484EPDNEW
RGD ID:6785142
Promoter ID:HG_KWN:389
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378087,   NM_003636,   NM_172130,   OTTHUMT00000002120,   OTTHUMT00000002193,   UC001ALU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,008,086 - 6,009,032 (+)MPROMDB
RGD ID:6785823
Promoter ID:HG_KWN:390
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000002121
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,008,946 - 6,010,107 (+)MPROMDB
RGD ID:6785820
Promoter ID:HG_KWN:391
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000164247
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,016,956 - 6,017,456 (+)MPROMDB
RGD ID:6785828
Promoter ID:HG_KWN:392
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000099315
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,017,406 - 6,017,906 (+)MPROMDB
RGD ID:6853888
Promoter ID:EPDNEW_H109
Type:multiple initiation site
Name:KCNAB2_3
Description:potassium voltage-gated channel subfamily A regulatory beta subunit2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H107  EPDNEW_H110  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,025,987 - 6,026,047EPDNEW
RGD ID:6853890
Promoter ID:EPDNEW_H110
Type:initiation region
Name:KCNAB2_1
Description:potassium voltage-gated channel subfamily A regulatory beta subunit2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H107  EPDNEW_H109  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,026,333 - 6,026,393EPDNEW
RGD ID:6785830
Promoter ID:HG_KWN:393
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:UC001ALY.1,   UC009VLW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,027,601 - 6,028,457 (+)MPROMDB
RGD ID:6785822
Promoter ID:HG_KWN:394
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000378083
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,033,914 - 6,034,414 (+)MPROMDB
RGD ID:6785827
Promoter ID:HG_KWN:395
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   NB4
Transcripts:OTTHUMT00000002822
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,054,554 - 6,055,054 (+)MPROMDB
RGD ID:6785825
Promoter ID:HG_KWN:396
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000002821
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,066,901 - 6,067,852 (+)MPROMDB
RGD ID:6785824
Promoter ID:HG_KWN:397
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000002820
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,078,351 - 6,079,377 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6229 AgrOrtholog
COSMIC KCNAB2 COSMIC
Ensembl Genes ENSG00000069424 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000164247 ENTREZGENE
  ENST00000164247.5 UniProtKB/Swiss-Prot
  ENST00000341524.6 UniProtKB/TrEMBL
  ENST00000352527 ENTREZGENE
  ENST00000352527.6 UniProtKB/Swiss-Prot
  ENST00000378083 ENTREZGENE
  ENST00000378083.8 UniProtKB/Swiss-Prot
  ENST00000378092 ENTREZGENE
  ENST00000378092.6 UniProtKB/Swiss-Prot
  ENST00000378097 ENTREZGENE
  ENST00000378097.6 UniProtKB/Swiss-Prot
  ENST00000378111 ENTREZGENE
  ENST00000378111.6 UniProtKB/TrEMBL
  ENST00000389632.9 UniProtKB/TrEMBL
  ENST00000428161 ENTREZGENE
  ENST00000428161.7 UniProtKB/Swiss-Prot
  ENST00000445501.6 UniProtKB/TrEMBL
  ENST00000458166 ENTREZGENE
  ENST00000458166.6 UniProtKB/Swiss-Prot
  ENST00000462676.3 UniProtKB/TrEMBL
  ENST00000472700.7 UniProtKB/TrEMBL
  ENST00000602612 ENTREZGENE
  ENST00000602612.5 UniProtKB/Swiss-Prot
  ENST00000652845.1 UniProtKB/TrEMBL
  ENST00000653262.1 UniProtKB/TrEMBL
  ENST00000655548.1 UniProtKB/TrEMBL
  ENST00000655703.1 UniProtKB/TrEMBL
  ENST00000656198.1 UniProtKB/TrEMBL
  ENST00000656746.1 UniProtKB/TrEMBL
  ENST00000658691.1 UniProtKB/TrEMBL
  ENST00000658883.1 UniProtKB/TrEMBL
  ENST00000662147.1 UniProtKB/TrEMBL
  ENST00000662363.1 UniProtKB/TrEMBL
  ENST00000662815.1 UniProtKB/TrEMBL
  ENST00000663169.1 UniProtKB/TrEMBL
  ENST00000666163 ENTREZGENE
  ENST00000666163.1 UniProtKB/Swiss-Prot
  ENST00000666299.1 UniProtKB/TrEMBL
  ENST00000668559 ENTREZGENE
  ENST00000668559.1 UniProtKB/Swiss-Prot
  ENST00000668706.1 UniProtKB/TrEMBL
  ENST00000669250.1 UniProtKB/Swiss-Prot
  ENST00000671076.1 UniProtKB/TrEMBL
  ENST00000671676 ENTREZGENE
  ENST00000671676.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.20.20.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000069424 GTEx
HGNC ID HGNC:6229 ENTREZGENE
Human Proteome Map KCNAB2 Human Proteome Map
InterPro K_chnl_volt-dep_bsu_KCNAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_bsu_KCNAB-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_bsu_KCNAB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_OxRdtase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_OxRdtase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8514 UniProtKB/Swiss-Prot
NCBI Gene 8514 ENTREZGENE
OMIM 601142 OMIM
PANTHER PTHR43150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE-GATED POTASSIUM CHANNEL SUBUNIT BETA-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldo_ket_red UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA373 PharmGKB
PRINTS KCNAB2CHANEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCNABCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51430 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJ15_HUMAN UniProtKB/TrEMBL
  A0A590UJ35_HUMAN UniProtKB/TrEMBL
  A0A590UJ72_HUMAN UniProtKB/TrEMBL
  A0A590UJ79_HUMAN UniProtKB/TrEMBL
  A0A590UJB6_HUMAN UniProtKB/TrEMBL
  A0A590UJB8_HUMAN UniProtKB/TrEMBL
  A0A590UJI8_HUMAN UniProtKB/TrEMBL
  A0A590UJJ4 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJK5_HUMAN UniProtKB/TrEMBL
  A0A590UJU1_HUMAN UniProtKB/TrEMBL
  A0A590UJU4_HUMAN UniProtKB/TrEMBL
  A0A590UJV4_HUMAN UniProtKB/TrEMBL
  A0A590UJX9_HUMAN UniProtKB/TrEMBL
  A0A590UJY1_HUMAN UniProtKB/TrEMBL
  A0A590UK89_HUMAN UniProtKB/TrEMBL
  A0A5F9UN28_HUMAN UniProtKB/TrEMBL
  A0AVM9 ENTREZGENE
  A8K1A4 ENTREZGENE
  A8K1X9 ENTREZGENE, UniProtKB/TrEMBL
  B0AZM0 ENTREZGENE, UniProtKB/TrEMBL
  B0AZR7 ENTREZGENE
  B2R615 ENTREZGENE, UniProtKB/TrEMBL
  B2R776 ENTREZGENE, UniProtKB/TrEMBL
  K7EIR5_HUMAN UniProtKB/TrEMBL
  K7EKU4_HUMAN UniProtKB/TrEMBL
  KCAB2_HUMAN UniProtKB/Swiss-Prot
  O43659 ENTREZGENE
  Q13303 ENTREZGENE
  Q2YD85 ENTREZGENE
  Q5TG78_HUMAN UniProtKB/TrEMBL
  Q5TG81_HUMAN UniProtKB/TrEMBL
  Q5TG82 ENTREZGENE
  Q5TG83 ENTREZGENE
  Q5TG84 ENTREZGENE, UniProtKB/TrEMBL
  Q6FG22_HUMAN UniProtKB/TrEMBL
  Q6FG44_HUMAN UniProtKB/TrEMBL
  Q6ZNE4 ENTREZGENE
  Q99411 ENTREZGENE
UniProt Secondary A0AVM9 UniProtKB/Swiss-Prot
  A8K1A4 UniProtKB/Swiss-Prot
  B0AZR7 UniProtKB/Swiss-Prot
  O43659 UniProtKB/Swiss-Prot
  Q2YD85 UniProtKB/Swiss-Prot
  Q5TG82 UniProtKB/Swiss-Prot
  Q5TG83 UniProtKB/Swiss-Prot
  Q6ZNE4 UniProtKB/Swiss-Prot
  Q99411 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNAB2  potassium voltage-gated channel subfamily A regulatory beta subunit 2    potassium channel, voltage gated subfamily A regulatory beta subunit 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNAB2  potassium channel, voltage gated subfamily A regulatory beta subunit 2    potassium voltage-gated channel, shaker-related subfamily, beta member 2  Symbol and/or name change 5135510 APPROVED