KCNMB1 (potassium calcium-activated channel subfamily M regulatory beta subunit 1) - Rat Genome Database

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Gene: KCNMB1 (potassium calcium-activated channel subfamily M regulatory beta subunit 1) Homo sapiens
Analyze
Symbol: KCNMB1
Name: potassium calcium-activated channel subfamily M regulatory beta subunit 1
RGD ID: 733456
HGNC Page HGNC
Description: Predicted to enable calcium-activated potassium channel activity and potassium channel regulator activity. Predicted to be involved in detection of calcium ion. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Implicated in hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: big potassium channel beta subunit 1; BK channel beta subunit; BK channel beta subunit 1; BK channel subunit beta-1; BKbeta; BKbeta1; calcium-activated potassium channel subunit beta; calcium-activated potassium channel subunit beta-1; calcium-activated potassium channel, subfamily M subunit beta-1; charybdotoxin receptor subunit beta-1; hbeta1; hslo-beta; K(VCA)beta; k(VCA)beta-1; large conductance Ca2+-activated K+ channel beta 1 subunit; Maxi K channel beta subunit; maxi K channel subunit beta-1; MaxiK channel beta-subunit 1; potassium channel subfamily M regulatory beta subunit 1; potassium large conductance calcium-activated channel, subfamily M, beta member 1; SLO-BETA; slo-beta-1
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
GRCh385170,374,671 - 170,389,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl5170,374,671 - 170,389,634 (-)EnsemblGRCh38hg38GRCh38
GRCh375169,801,675 - 169,816,371 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365169,737,745 - 169,749,216 (-)NCBINCBI36hg18NCBI36
Build 345169,737,744 - 169,749,216NCBI
Celera5165,837,099 - 165,848,570 (-)NCBI
Cytogenetic Map5q35.1NCBI
HuRef5164,904,047 - 164,915,563 (-)NCBIHuRef
CHM1_15169,238,046 - 169,249,557 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8612769   PMID:8764643   PMID:8799178   PMID:10489376   PMID:10792058   PMID:11790768   PMID:11994272   PMID:12011654   PMID:12136044   PMID:12223479   PMID:12434576   PMID:12477932  
PMID:12670831   PMID:12893878   PMID:12962281   PMID:14522958   PMID:15057310   PMID:15489334   PMID:15528406   PMID:15671602   PMID:16002321   PMID:16189514   PMID:16344560   PMID:16446507  
PMID:17496725   PMID:17700361   PMID:18418400   PMID:18496125   PMID:18535015   PMID:18660489   PMID:18854753   PMID:19050450   PMID:19057512   PMID:19204046   PMID:19282863   PMID:19289549  
PMID:19295429   PMID:19430934   PMID:19801679   PMID:19913121   PMID:20424473   PMID:20457834   PMID:20628086   PMID:20861615   PMID:20966391   PMID:21413024   PMID:21873635   PMID:22114151  
PMID:23255603   PMID:23825428   PMID:24476761   PMID:24569989   PMID:24927181   PMID:25275635   PMID:25576871   PMID:25825171   PMID:25825713   PMID:27217576   PMID:28429615   PMID:28750098  
PMID:29850792   PMID:31486669   PMID:31536960   PMID:32296183   PMID:32513696  


Genomics

Comparative Map Data
KCNMB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385170,374,671 - 170,389,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl5170,374,671 - 170,389,634 (-)EnsemblGRCh38hg38GRCh38
GRCh375169,801,675 - 169,816,371 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365169,737,745 - 169,749,216 (-)NCBINCBI36hg18NCBI36
Build 345169,737,744 - 169,749,216NCBI
Celera5165,837,099 - 165,848,570 (-)NCBI
Cytogenetic Map5q35.1NCBI
HuRef5164,904,047 - 164,915,563 (-)NCBIHuRef
CHM1_15169,238,046 - 169,249,557 (-)NCBICHM1_1
Kcnmb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391133,912,955 - 33,923,641 (+)NCBIGRCm39mm39
GRCm39 Ensembl1133,913,013 - 33,923,641 (+)Ensembl
GRCm381133,962,955 - 33,973,641 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1133,963,013 - 33,973,641 (+)EnsemblGRCm38mm10GRCm38
MGSCv371133,863,013 - 33,873,638 (+)NCBIGRCm37mm9NCBIm37
MGSCv361133,863,286 - 33,871,275 (+)NCBImm8
Celera1136,374,009 - 36,384,630 (+)NCBICelera
Cytogenetic Map11A4NCBI
Kcnmb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21018,557,510 - 18,614,824 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1018,557,904 - 18,565,798 (+)Ensembl
Rnor_6.01018,910,586 - 18,922,856 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1018,906,010 - 18,919,639 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01018,790,595 - 18,800,957 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41018,904,902 - 18,912,604 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11018,905,950 - 18,913,652 (+)NCBI
Celera1018,189,045 - 18,196,906 (+)NCBICelera
Cytogenetic Map10q12NCBI
Kcnmb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540823,325,225 - 23,335,298 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540823,306,286 - 23,335,170 (-)NCBIChiLan1.0ChiLan1.0
KCNMB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15172,495,762 - 172,507,318 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5172,495,762 - 172,507,318 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05165,712,588 - 165,747,948 (-)NCBIMhudiblu_PPA_v0panPan3
KCNMB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1441,536,841 - 41,545,523 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl441,537,225 - 41,545,344 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha441,491,752 - 41,497,517 (+)NCBI
ROS_Cfam_1.0441,912,957 - 41,922,108 (+)NCBI
ROS_Cfam_1.0 Ensembl441,912,853 - 41,921,446 (+)Ensembl
UMICH_Zoey_3.1441,733,152 - 41,738,919 (+)NCBI
UNSW_CanFamBas_1.0441,919,686 - 41,925,451 (+)NCBI
UU_Cfam_GSD_1.0442,430,404 - 42,436,172 (+)NCBI
Kcnmb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721395,728,790 - 95,736,033 (+)NCBI
SpeTri2.0NW_0049366094,451,526 - 4,458,665 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNMB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1653,618,603 - 53,631,197 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11653,616,532 - 53,631,197 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21657,959,628 - 57,972,407 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNMB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12372,580,617 - 72,591,070 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2372,577,813 - 72,591,588 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660346,070,733 - 6,081,816 (+)NCBIVero_WHO_p1.0
Kcnmb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473319,582,646 - 19,593,581 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH79077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375169,805,361 - 169,805,542UniSTSGRCh37
Build 365169,737,939 - 169,738,120RGDNCBI36
Celera5165,837,293 - 165,837,474RGD
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q34UniSTS
HuRef5164,904,243 - 164,904,424UniSTS
GeneMap99-GB4 RH Map5630.72UniSTS
NCBI RH Map5973.0UniSTS
KCNMB1_3183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375169,805,171 - 169,805,900UniSTSGRCh37
Build 365169,737,749 - 169,738,478RGDNCBI36
Celera5165,837,103 - 165,837,832RGD
HuRef5164,904,053 - 164,904,782UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2086
Count of miRNA genes:973
Interacting mature miRNAs:1161
Transcripts:ENST00000274629, ENST00000521859
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 1739 1323 19 38 91 1 868 883 56 27 514 80 38 146 742
Low 568 1314 1097 226 1343 100 2713 588 1901 284 794 1294 126 1 1045 1482 3 2
Below cutoff 116 353 606 360 469 364 767 722 1759 104 143 222 10 13 564 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_011538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA464625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY044441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY515264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA619309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U25138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000274629   ⟹   ENSP00000274629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5170,374,671 - 170,389,367 (-)Ensembl
RefSeq Acc Id: ENST00000521859   ⟹   ENSP00000427940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5170,382,652 - 170,389,634 (-)Ensembl
RefSeq Acc Id: NM_004137   ⟹   NP_004128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385170,374,671 - 170,389,367 (-)NCBI
GRCh375169,805,165 - 169,816,681 (-)NCBI
Build 365169,737,745 - 169,749,216 (-)NCBI Archive
HuRef5164,904,047 - 164,915,563 (-)NCBI
CHM1_15169,238,046 - 169,249,557 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004128   ⟸   NM_004137
- UniProtKB: Q16558 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000427940   ⟸   ENST00000521859
RefSeq Acc Id: ENSP00000274629   ⟸   ENST00000274629

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16558-F1-model_v2 AlphaFold Q16558 1-191 view protein structure

Promoters
RGD ID:6803284
Promoter ID:HG_KWN:51763
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000252830,   UC003MAR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365169,748,691 - 169,749,191 (-)MPROMDB
RGD ID:6871518
Promoter ID:EPDNEW_H8924
Type:multiple initiation site
Name:KCNMB1_1
Description:potassium calcium-activated channel subfamily M regulatory betasubunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385170,389,655 - 170,389,715EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004137.4(KCNMB1):c.193G>A (p.Glu65Lys) single nucleotide variant Hypertension, diastolic, resistance to [RCV000006304] Chr5:170383792 [GRCh38]
Chr5:169810796 [GRCh37]
Chr5:5q35.1
pathogenic|protective
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q34-35.1(chr5:166371405-171390034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052148]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052148]|See cases [RCV000052148] Chr5:166371405..171390034 [GRCh38]
Chr5:165798410..170817038 [GRCh37]
Chr5:165730988..170749643 [NCBI36]
Chr5:5q34-35.1
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.1(chr5:170226622-171028731)x3 copy number gain See cases [RCV000137321] Chr5:170226622..171028731 [GRCh38]
Chr5:169653626..170455735 [GRCh37]
Chr5:169586204..170388340 [NCBI36]
Chr5:5q35.1
likely benign
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1 copy number loss See cases [RCV000140907] Chr5:168433412..171417179 [GRCh38]
Chr5:167860417..170844183 [GRCh37]
Chr5:167792995..170776788 [NCBI36]
Chr5:5q34-35.1
uncertain significance
GRCh37/hg19 5q35.1(chr5:169724500-170051199)x3 copy number gain See cases [RCV000239841] Chr5:169724500..170051199 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1 copy number loss See cases [RCV000447112] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.1(chr5:169805516-169996173)x3 copy number gain See cases [RCV000448556] Chr5:169805516..169996173 [GRCh37]
Chr5:5q35.1
likely benign
GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1 copy number loss See cases [RCV000511893] Chr5:168955293..170432136 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.1(chr5:169794603-169997638)x3 copy number gain not provided [RCV000682611] Chr5:169794603..169997638 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
NM_004137.4(KCNMB1):c.54C>T (p.Cys18=) single nucleotide variant not provided [RCV000960033] Chr5:170385394 [GRCh38]
Chr5:169812398 [GRCh37]
Chr5:5q35.1
benign
GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3 copy number gain not provided [RCV000845588] Chr5:156597181..171166353 [GRCh37]
Chr5:5q33.3-35.1
pathogenic
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1 copy number loss Atrial septal defect 7 [RCV000853560] Chr5:166421173..173324843 [GRCh37]
Chr5:5q34-35.2
pathogenic
GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1 copy number loss not provided [RCV001005746] Chr5:156347980..169959880 [GRCh37]
Chr5:5q33.3-35.1
pathogenic
GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1 copy number loss not provided [RCV001259927] Chr5:166378793..170174830 [GRCh37]
Chr5:5q34-35.1
likely pathogenic
NC_000005.9:g.(?_169064311)_(170245847_?)dup duplication DOCK2 deficiency [RCV001372340] Chr5:169064311..170245847 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124) copy number loss not specified [RCV002053537] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6285 AgrOrtholog
COSMIC KCNMB1 COSMIC
Ensembl Genes ENSG00000145936 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000274629 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427940 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274629 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521859 UniProtKB/Swiss-Prot
GTEx ENSG00000145936 GTEx
HGNC ID HGNC:6285 ENTREZGENE
Human Proteome Map KCNMB1 Human Proteome Map
InterPro K_chnl_Ca-activ_BK_bsu UniProtKB/Swiss-Prot
KEGG Report hsa:3779 UniProtKB/Swiss-Prot
NCBI Gene 3779 ENTREZGENE
OMIM 603951 OMIM
  608622 OMIM
PANTHER PTHR10258 UniProtKB/Swiss-Prot
Pfam CaKB UniProtKB/Swiss-Prot
PharmGKB PA221 PharmGKB
PRINTS BKCHANNELB UniProtKB/Swiss-Prot
UniProt KCMB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O00707 UniProtKB/Swiss-Prot
  O00708 UniProtKB/Swiss-Prot
  P78475 UniProtKB/Swiss-Prot
  Q53YR0 UniProtKB/Swiss-Prot
  Q8TAX3 UniProtKB/Swiss-Prot
  Q93005 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNMB1  potassium calcium-activated channel subfamily M regulatory beta subunit 1  KCNMB1  potassium channel subfamily M regulatory beta subunit 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNMB1  potassium channel subfamily M regulatory beta subunit 1  KCNMB1  potassium large conductance calcium-activated channel, subfamily M, beta member 1  Symbol and/or name change 5135510 APPROVED