Pi4kb MGI Mouse Gene Detail - MGI:1334433 - phosphatidylinositol 4-kinase beta

Symbol

Pi4kb
Name

phosphatidylinositol 4-kinase beta
Synonyms

ESTM41, Pik4cb

Feature Type

protein coding gene
IDs

MGI:1334433
NCBI Gene: 107650
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr3:94882042-94914154 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 40.74 cM
Mapping Data

1 experiment

SNPs within 2kb

488 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1334433	protein coding gene	Chr3:94882042-94914248 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027563	protein coding gene	Chr3:95654164-95686274 (+)
A/J	MGP_AJ_G0027522	protein coding gene	Chr3:92711558-92743816 (+)
AKR/J	MGP_AKRJ_G0027489	protein coding gene	Chr3:94847289-94880705 (+)
BALB/cJ	MGP_BALBcJ_G0027534	protein coding gene	Chr3:92481477-92513629 (+)
C3H/HeJ	MGP_C3HHeJ_G0027267	protein coding gene	Chr3:95120238-95153509 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027982	protein coding gene	Chr3:99223742-99255862 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025322	protein coding gene	Chr3:89069961-89102595 (+)
CAST/EiJ	MGP_CASTEiJ_G0026717	protein coding gene	Chr3:94413739-94446605 (+)
CBA/J	MGP_CBAJ_G0027244	protein coding gene	Chr3:102801443-102833528 (+)
DBA/2J	MGP_DBA2J_G0027383	protein coding gene	Chr3:92005454-92037380 (+)
FVB/NJ	MGP_FVBNJ_G0027354	protein coding gene	Chr3:90073890-90106058 (+)
LP/J	MGP_LPJ_G0027492	protein coding gene	Chr3:96944620-96976928 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027381	protein coding gene	Chr3:108948233-108980175 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028036	protein coding gene	Chr3:94496412-94529698 (+)
PWK/PhJ	MGP_PWKPhJ_G0026445	protein coding gene	Chr3:91874456-91907709 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026266	protein coding gene	Chr3:92796334-92828265 (+)
WSB/EiJ	MGP_WSBEiJ_G0026799	protein coding gene	Chr3:94887421-94920867 (+)

Human Ortholog

PI4KB, phosphatidylinositol 4-kinase beta

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PI4KB, phosphatidylinositol 4-kinase beta
Synonyms

DFNA87, NPIK, PI4K92, PI4K-BETA, PI4KBETA, PI4KIII, PI4KIIIBETA, PIK4CB
Links

HGNC:8984

NCBI Gene ID: 5298

neXtProt AC: NX_Q9UBF8

UniProt: Q9UBF8
Chr Location

1q21.3; chr1:151291797-151327715 (-) GRCh38

MGI Vertebrate Homology

Pi4kb stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PI4KB
Gene Tree

Pi4kb

Diseases

1 with human PI4KB associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness IDs autosomal dominant nonsyndromic deafness DOID:0050564 ICD10CM:H90.3 OMIM:PS124900 ORDO:90635

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

9 phenotypes from 1 allele in 1 genetic background
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

4
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Pi4kb
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

40 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homzygous for a conditional allele activated in Schwann cells exhibit limb grasping, hindlimb spasticity, abnormal gait, decreased nerve conduction velocity, abnormal node of Ranvier morphology, and abnormal Schwann cell morphology.

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All GO Annotations

21
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

808
Tissues

102
cDNA Data

14
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pi4kb

ZFIN pi4kb

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All Sequences

61
RefSeq

6
UniProt

5
CCDS

CCDS17599.1, CCDS79978.1, CCDS79979.1

Ensembl

ENSMUSG00000038861 (Evidence)
NCBI Gene

107650

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038861	Ensembl Gene Model \| MGI Sequence Detail	32113	C57BL/6J	± kb
transcript	ENSMUST00000125476	Ensembl \| MGI Sequence Detail	3400	Not Applicable
polypeptide	ENSMUSP00000121965	Ensembl \| MGI Sequence Detail	828	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012684 phosphatidylinositol 4-kinase beta

(term hierarchy)
EC

2.7.1.67
InterPro Domains

IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain

IPR036940 Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily

IPR018936 Phosphatidylinositol 3/4-kinase, conserved site

IPR015433 Phosphatidylinositol kinase

IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domain

IPR049160 PI4KB/PIK1, accessory domain

IPR011009 Protein kinase-like domain superfamily

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All nucleic 15

cDNA 14

Primer pair 1

Microarray probesets 4

Summaries

All 45

Developmental Gene Expression 3

Diseases 1

Gene Ontology 8

Phenotypes 14
Earliest

J:52606 Eddleston J, et al., Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp). Genomics. 1999 Mar 1;56(2):149-59
Latest

J:354266 Sang Y, et al., PI4KIIIbeta-Mediated Phosphoinositides Metabolism Regulates Function of the VTA Dopaminergic Neurons and Depression-Like Behavior. J Neurosci. 2024 Mar 13;44(11)

TSS for Pi4kb:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr30479	Chr3:94882004-94882030 (+)	-25 bp
Tssr30480	Chr3:94882039-94882064 (+)	10 bp
Tssr30481	Chr3:94882068-94882079 (+)	32 bp
Tssr30482	Chr3:94882222-94882275 (+)	207 bp
Tssr30483	Chr3:94882279-94882301 (+)	248 bp
Tssr966	Chr3:94892147-94892161 (+)	10,112 bp
Tssr30484	Chr3:94912267-94912313 (+)	30,248 bp
Tssr30485	Chr3:94913900-94913913 (+)	31,865 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24