PI4K2B (phosphatidylinositol 4-kinase type 2 beta) - Rat Genome Database

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Gene: PI4K2B (phosphatidylinositol 4-kinase type 2 beta) Homo sapiens
Analyze
Symbol: PI4K2B
Name: phosphatidylinositol 4-kinase type 2 beta
RGD ID: 1602326
HGNC Page HGNC:18215
Description: Enables 1-phosphatidylinositol 4-kinase activity. Involved in phosphatidylinositol phosphate biosynthetic process. Located in several cellular components, including bounding membrane of organelle; cytosol; and endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ11105; phosphatidylinositol 4-kinase type 2-beta; phosphatidylinositol 4-kinase type II-beta; phosphatidylinositol 4-kinase type-II beta; PI4KII-BETA; PI4KIIB; PIK42B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100271842  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38425,234,033 - 25,279,204 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl425,160,663 - 25,279,204 (+)EnsemblGRCh38hg38GRCh38
GRCh37425,235,655 - 25,280,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36424,844,773 - 24,889,808 (+)NCBINCBI36Build 36hg18NCBI36
Celera425,684,355 - 25,729,523 (+)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef424,575,970 - 24,620,982 (+)NCBIHuRef
CHM1_1425,235,255 - 25,280,463 (+)NCBICHM1_1
T2T-CHM13v2.0425,215,954 - 25,261,023 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11907035   PMID:11923287   PMID:12324459   PMID:12477932   PMID:14702039   PMID:16337488   PMID:16949365   PMID:18029348   PMID:18316730   PMID:18624398   PMID:19322201   PMID:19539307  
PMID:19946888   PMID:20583997   PMID:21330372   PMID:21873635   PMID:23619705   PMID:24481753   PMID:24972704   PMID:26143926   PMID:26186194   PMID:27068535   PMID:28514442   PMID:29117863  
PMID:30833792   PMID:33961781  


Genomics

Comparative Map Data
PI4K2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38425,234,033 - 25,279,204 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl425,160,663 - 25,279,204 (+)EnsemblGRCh38hg38GRCh38
GRCh37425,235,655 - 25,280,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36424,844,773 - 24,889,808 (+)NCBINCBI36Build 36hg18NCBI36
Celera425,684,355 - 25,729,523 (+)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef424,575,970 - 24,620,982 (+)NCBIHuRef
CHM1_1425,235,255 - 25,280,463 (+)NCBICHM1_1
T2T-CHM13v2.0425,215,954 - 25,261,023 (+)NCBIT2T-CHM13v2.0
Pi4k2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39552,898,903 - 52,926,686 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl552,898,916 - 52,926,682 (+)EnsemblGRCm39 Ensembl
GRCm38552,741,561 - 52,769,344 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl552,741,574 - 52,769,340 (+)EnsemblGRCm38mm10GRCm38
MGSCv37553,132,813 - 53,160,579 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36553,029,856 - 53,057,585 (+)NCBIMGSCv36mm8
Celera550,118,695 - 50,146,437 (+)NCBICelera
Cytogenetic Map5C1NCBI
cM Map528.63NCBI
Pi4k2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81462,434,589 - 62,461,507 (-)NCBIGRCr8
mRatBN7.21458,221,790 - 58,248,716 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1458,220,437 - 58,248,673 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1462,627,530 - 62,654,397 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01463,941,658 - 63,968,016 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01460,338,407 - 60,364,765 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01460,567,968 - 60,594,821 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1460,567,967 - 60,594,844 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01460,685,762 - 60,712,615 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41462,975,861 - 63,002,714 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11462,978,251 - 63,005,105 (-)NCBI
Celera1457,321,053 - 57,347,906 (-)NCBICelera
Cytogenetic Map14q11NCBI
Pi4k2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544319,730,459 - 19,760,177 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544319,728,997 - 19,760,569 (-)NCBIChiLan1.0ChiLan1.0
PI4K2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2325,481,651 - 25,526,897 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1425,675,197 - 25,720,577 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0419,631,806 - 19,677,215 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1424,915,779 - 24,960,895 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl424,916,511 - 24,960,895 (+)Ensemblpanpan1.1panPan2
PI4K2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1384,981,785 - 85,001,702 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl384,983,899 - 84,999,771 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha387,494,602 - 87,520,450 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0385,954,956 - 85,981,474 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl385,954,797 - 85,981,792 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1385,088,723 - 85,114,795 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0385,193,530 - 85,219,429 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0385,579,403 - 85,605,266 (-)NCBIUU_Cfam_GSD_1.0
Pi4k2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528550,543,250 - 50,571,903 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364774,245,501 - 4,273,571 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364774,244,888 - 4,273,569 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PI4K2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl819,135,700 - 19,238,335 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1819,200,962 - 19,238,346 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PI4K2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12725,085,256 - 25,118,796 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2725,083,031 - 25,118,755 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604771,601,515 - 71,636,431 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pi4k2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247557,118,501 - 7,146,996 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247557,118,582 - 7,146,990 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PI4K2B
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|See cases [RCV000053263] Chr4:21056309..26732162 [GRCh38]
Chr4:21057932..26733784 [GRCh37]
Chr4:20667030..26342882 [NCBI36]
Chr4:4p15.31-15.2
pathogenic
NM_018323.3(PI4K2B):c.747C>G (p.Leu249=) single nucleotide variant Malignant melanoma [RCV000066399] Chr4:25256665 [GRCh38]
Chr4:25258287 [GRCh37]
Chr4:24867385 [NCBI36]
Chr4:4p15.2
not provided
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1 copy number loss See cases [RCV000135404] Chr4:23862000..27685546 [GRCh38]
Chr4:23863623..27687168 [GRCh37]
Chr4:23472721..27296266 [NCBI36]
Chr4:4p15.2
pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 copy number loss See cases [RCV000135806] Chr4:16925022..32113076 [GRCh38]
Chr4:16926645..32114698 [GRCh37]
Chr4:16535743..31758596 [NCBI36]
Chr4:4p15.32-15.1
pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
NM_018176.3(LGI2):c.-473617_-693dup duplication Gestational diabetes mellitus uncontrolled [RCV000161338] Chr4:25031386..25504310 [GRCh38]
Chr4:25033008..25505932 [GRCh37]
Chr4:4p15.2
not provided
NM_018323.4(PI4K2B):c.10C>A (p.Pro4Thr) single nucleotide variant Abnormality of neuronal migration [RCV000201382] Chr4:25234173 [GRCh38]
Chr4:25235795 [GRCh37]
Chr4:4p15.2
benign
NM_018323.4(PI4K2B):c.861G>T (p.Gln287His) single nucleotide variant Abnormality of neuronal migration [RCV000201422] Chr4:25259141 [GRCh38]
Chr4:25260763 [GRCh37]
Chr4:4p15.2
benign|uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1 copy number loss See cases [RCV000240221] Chr4:23458442..29252060 [GRCh37]
Chr4:4p15.2-15.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1 copy number loss See cases [RCV000445756] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_018323.4(PI4K2B):c.20C>G (p.Pro7Arg) single nucleotide variant Inborn genetic diseases [RCV003289717] Chr4:25234183 [GRCh38]
Chr4:25235805 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_018323.4(PI4K2B):c.188A>C (p.Glu63Ala) single nucleotide variant Inborn genetic diseases [RCV003244975] Chr4:25234351 [GRCh38]
Chr4:25235973 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1 copy number loss not provided [RCV001005527] Chr4:20406475..29134345 [GRCh37]
Chr4:4p15.31-15.1
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608) copy number loss not specified [RCV002053411] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1
likely pathogenic
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) copy number loss not specified [RCV002053409] Chr4:19892850..37325128 [GRCh37]
Chr4:4p15.31-14
pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_018323.4(PI4K2B):c.607A>G (p.Ile203Val) single nucleotide variant Inborn genetic diseases [RCV002752464] Chr4:25255248 [GRCh38]
Chr4:25256870 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.1136G>A (p.Arg379Lys) single nucleotide variant Inborn genetic diseases [RCV002689584] Chr4:25268500 [GRCh38]
Chr4:25270122 [GRCh37]
Chr4:4p15.2
likely benign
NM_018323.4(PI4K2B):c.1100T>G (p.Leu367Arg) single nucleotide variant Inborn genetic diseases [RCV002969376] Chr4:25268464 [GRCh38]
Chr4:25270086 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.355G>A (p.Val119Ile) single nucleotide variant Inborn genetic diseases [RCV002974717] Chr4:25252407 [GRCh38]
Chr4:25254029 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.124G>T (p.Ala42Ser) single nucleotide variant Inborn genetic diseases [RCV002659862] Chr4:25234287 [GRCh38]
Chr4:25235909 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.188A>G (p.Glu63Gly) single nucleotide variant Inborn genetic diseases [RCV002738287] Chr4:25234351 [GRCh38]
Chr4:25235973 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.115C>G (p.Arg39Gly) single nucleotide variant Inborn genetic diseases [RCV002666146] Chr4:25234278 [GRCh38]
Chr4:25235900 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.246C>G (p.Asp82Glu) single nucleotide variant Inborn genetic diseases [RCV002664913] Chr4:25234409 [GRCh38]
Chr4:25236031 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.1303G>A (p.Gly435Arg) single nucleotide variant Inborn genetic diseases [RCV002813631] Chr4:25277044 [GRCh38]
Chr4:25278666 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.221C>T (p.Ser74Phe) single nucleotide variant Inborn genetic diseases [RCV002703297] Chr4:25234384 [GRCh38]
Chr4:25236006 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.428T>C (p.Ile143Thr) single nucleotide variant Inborn genetic diseases [RCV002669926] Chr4:25255069 [GRCh38]
Chr4:25256691 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.413A>T (p.Asp138Val) single nucleotide variant Inborn genetic diseases [RCV002835711] Chr4:25252465 [GRCh38]
Chr4:25254087 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14
pathogenic
NM_018323.4(PI4K2B):c.656A>G (p.Tyr219Cys) single nucleotide variant Inborn genetic diseases [RCV003217885] Chr4:25256574 [GRCh38]
Chr4:25258196 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.49A>T (p.Ser17Cys) single nucleotide variant Inborn genetic diseases [RCV003185853] Chr4:25234212 [GRCh38]
Chr4:25235834 [GRCh37]
Chr4:4p15.2
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12
pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11
pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13
pathogenic
NM_018323.4(PI4K2B):c.445C>A (p.Pro149Thr) single nucleotide variant Inborn genetic diseases [RCV003367013] Chr4:25255086 [GRCh38]
Chr4:25256708 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.183C>G (p.Asp61Glu) single nucleotide variant Inborn genetic diseases [RCV003367524] Chr4:25234346 [GRCh38]
Chr4:25235968 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.263T>C (p.Val88Ala) single nucleotide variant Inborn genetic diseases [RCV003367525] Chr4:25234426 [GRCh38]
Chr4:25236048 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.807G>C (p.Trp269Cys) single nucleotide variant Autism [RCV003454378] Chr4:25259087 [GRCh38]
Chr4:25260709 [GRCh37]
Chr4:4p15.2
uncertain significance
NM_018323.4(PI4K2B):c.978+20TA[11] microsatellite not provided [RCV003663007] Chr4:25260611..25260620 [GRCh38]
Chr4:25262233..25262242 [GRCh37]
Chr4:4p15.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1007
Count of miRNA genes:652
Interacting mature miRNAs:738
Transcripts:ENST00000264864, ENST00000507794, ENST00000510415, ENST00000512921
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
RH102128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,280,379 - 25,280,532UniSTSGRCh37
Build 36424,889,477 - 24,889,630RGDNCBI36
Celera425,729,071 - 25,729,224RGD
Cytogenetic Map4p15.2UniSTS
HuRef424,620,530 - 24,620,683UniSTS
GeneMap99-GB4 RH Map4101.55UniSTS


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 1020 1061 1189 534 1044 380 2984 208 672 164 952 1553 166 774 1672 3
Low 1419 1852 537 90 832 85 1371 1984 3059 254 508 60 9 1 430 1115 2 2
Below cutoff 78 75 1 5 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_144633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007057941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF411320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY065990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB386249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000264864   ⟹   ENSP00000264864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,234,033 - 25,279,204 (+)Ensembl
RefSeq Acc Id: ENST00000512921   ⟹   ENSP00000423373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl425,160,663 - 25,277,306 (+)Ensembl
RefSeq Acc Id: NM_018323   ⟹   NP_060793
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,234,033 - 25,279,204 (+)NCBI
GRCh37425,235,653 - 25,280,831 (+)RGD
Build 36424,844,773 - 24,889,808 (+)NCBI Archive
Celera425,684,355 - 25,729,523 (+)RGD
HuRef424,575,970 - 24,620,982 (+)RGD
CHM1_1425,235,255 - 25,280,463 (+)NCBI
T2T-CHM13v2.0425,215,954 - 25,261,023 (+)NCBI
Sequence:
RefSeq Acc Id: NR_144633
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,234,033 - 25,279,204 (+)NCBI
T2T-CHM13v2.0425,215,954 - 25,261,023 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248174   ⟹   XP_005248231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,234,033 - 25,279,204 (+)NCBI
GRCh37425,235,653 - 25,280,831 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248175   ⟹   XP_005248232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,234,564 - 25,279,204 (+)NCBI
GRCh37425,235,653 - 25,280,831 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054350412   ⟹   XP_054206387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0425,215,954 - 25,261,023 (+)NCBI
RefSeq Acc Id: XM_054350413   ⟹   XP_054206388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0425,216,485 - 25,261,023 (+)NCBI
RefSeq Acc Id: XR_007057941
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,234,033 - 25,259,014 (+)NCBI
RefSeq Acc Id: XR_008487014
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0425,215,954 - 25,240,839 (+)NCBI
RefSeq Acc Id: NP_060793   ⟸   NM_018323
- UniProtKB: Q9NUW2 (UniProtKB/Swiss-Prot),   Q8TCG2 (UniProtKB/Swiss-Prot),   B3KY39 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248231   ⟸   XM_005248174
- Peptide Label: isoform X1
- UniProtKB: B3KY39 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248232   ⟸   XM_005248175
- Peptide Label: isoform X2
- UniProtKB: G5E9Z4 (UniProtKB/TrEMBL),   B4DJZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000423373   ⟸   ENST00000512921
RefSeq Acc Id: ENSP00000264864   ⟸   ENST00000264864
RefSeq Acc Id: XP_054206387   ⟸   XM_054350412
- Peptide Label: isoform X1
- UniProtKB: B3KY39 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206388   ⟸   XM_054350413
- Peptide Label: isoform X2
- UniProtKB: G5E9Z4 (UniProtKB/TrEMBL),   B4DJZ0 (UniProtKB/TrEMBL)
Protein Domains
PI3K/PI4K catalytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TCG2-F1-model_v2 AlphaFold Q8TCG2 1-481 view protein structure

Promoters
RGD ID:6802525
Promoter ID:HG_KWN:47985
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000250415
Position:
Human AssemblyChrPosition (strand)Source
Build 36424,844,556 - 24,845,056 (+)MPROMDB
RGD ID:6867154
Promoter ID:EPDNEW_H6742
Type:initiation region
Name:PI4K2B_1
Description:phosphatidylinositol 4-kinase type 2 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6739  EPDNEW_H6741  EPDNEW_H6743  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,234,033 - 25,234,093EPDNEW
RGD ID:6867156
Promoter ID:EPDNEW_H6743
Type:initiation region
Name:PI4K2B_4
Description:phosphatidylinositol 4-kinase type 2 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6739  EPDNEW_H6741  EPDNEW_H6742  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38425,277,009 - 25,277,069EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18215 AgrOrtholog
COSMIC PI4K2B COSMIC
Ensembl Genes ENSG00000038210 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264864 ENTREZGENE
  ENST00000264864.8 UniProtKB/Swiss-Prot
  ENST00000512921 ENTREZGENE
  ENST00000512921.4 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1070.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000038210 GTEx
HGNC ID HGNC:18215 ENTREZGENE
Human Proteome Map PI4K2B Human Proteome Map
InterPro Lsb6/PI4K2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PI3/4_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55300 UniProtKB/Swiss-Prot
NCBI Gene 55300 ENTREZGENE
OMIM 612101 OMIM
PANTHER PHOSPHATIDYLINOSITOL 4-KINASE TYPE 2-BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12865 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PI3_PI4_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671173 PharmGKB
PROSITE PI3_4_KINASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KY39 ENTREZGENE, UniProtKB/TrEMBL
  B4DJZ0 ENTREZGENE, UniProtKB/TrEMBL
  G5E9Z4 ENTREZGENE, UniProtKB/TrEMBL
  P4K2B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9NUW2 ENTREZGENE
UniProt Secondary Q9NUW2 UniProtKB/Swiss-Prot