Pik3c2a MGI Mouse Gene Detail - MGI:1203729 - phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

Symbol

Pik3c2a
Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
Synonyms

PI3KC2

Feature Type

protein coding gene
IDs

MGI:1203729
NCBI Gene: 18704
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr7:115936500-116042684 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 61.62 cM
Mapping Data

3 experiments

SNPs within 2kb

1760 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1203729	protein coding gene	Chr7:115936500-116042693 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0032891	protein coding gene	Chr7:120074970-120183739 (-)
A/J	MGP_AJ_G0032874	protein coding gene	Chr7:117058420-117163898 (-)
AKR/J	MGP_AKRJ_G0032806	protein coding gene	Chr7:120027722-120141515 (-)
BALB/cJ	MGP_BALBcJ_G0032879	protein coding gene	Chr7:116781531-116888674 (-)
C3H/HeJ	MGP_C3HHeJ_G0032589	protein coding gene	Chr7:119962279-120063860 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0033385	protein coding gene	Chr7:124884896-125002314 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030357	protein coding gene	Chr7:118576115-118672770 (-)
CAST/EiJ	MGP_CASTEiJ_G0031917	protein coding gene	Chr7:111649295-111758188 (-)
CBA/J	MGP_CBAJ_G0032562	protein coding gene	Chr7:129026576-129137449 (-)
DBA/2J	MGP_DBA2J_G0032714	protein coding gene	Chr7:115111801-115213148 (-)
FVB/NJ	MGP_FVBNJ_G0032667	protein coding gene	Chr7:114962199-115073127 (-)
LP/J	MGP_LPJ_G0032808	protein coding gene	Chr7:121562492-121667108 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032699	protein coding gene	Chr7:130639253-130761721 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033405	protein coding gene	Chr7:119020109-119127296 (-)
PWK/PhJ	MGP_PWKPhJ_G0031625	protein coding gene	Chr7:107988385-108096079 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0031472	protein coding gene	Chr7:105751995-105861784 (-)
WSB/EiJ	MGP_WSBEiJ_G0032030	protein coding gene	Chr7:119897078-119999863 (-)

Human Ortholog

PIK3C2A, phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PIK3C2A, phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
Synonyms

CPK, OCSKD, PI3-K-C2A, PI3-K-C2(ALPHA), PI3K-C2-alpha, PI3K-C2alpha
Links

HGNC:8971

NCBI Gene ID: 5286

neXtProt AC: NX_O00443

UniProt: O00443
Chr Location

11p15.1; chr11:17077730-17207986 (-) GRCh38

MGI Vertebrate Homology

Pik3c2a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PIK3C2A
Gene Tree

Pik3c2a

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Phenotype Summary

66 phenotypes from 3 alleles in 3 genetic backgrounds
23 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

20
Endonuclease-mediated

2
Gene trapped

9
Targeted

9
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

99 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets.

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All GO Annotations

42
GO References

10

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

802
Tissues

96
cDNA Data

109
Literature Summary

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PIK3C2A

Xenbase pik3c2a

ZFIN pik3c2a

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All Sequences

63
RefSeq

8
UniProt

7
CCDS

CCDS52371.1

Ensembl

ENSMUSG00000030660 (Evidence)
NCBI Gene

18704

			Length	Strain/Species	Flank
genomic	ENSMUSG00000030660	Ensembl Gene Model \| MGI Sequence Detail	106185	C57BL/6J	± kb
transcript	ENSMUST00000206219	Ensembl \| MGI Sequence Detail	5670	Not Applicable
polypeptide	ENSMUSP00000146181	Ensembl \| MGI Sequence Detail	1686	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000012715 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha

(term hierarchy)
PDB

2B3R, 7BI2, 7BI4, 7BI6, 7BI9, 7Z74, 7Z75, 8A9I
EC

2.7.1.137, 2.7.1.153, 2.7.1.154
InterPro Domains

IPR016024 Armadillo-type fold

IPR000008 C2 domain

IPR035892 C2 domain superfamily

IPR002420 C2 phosphatidylinositol 3-kinase-type domain

IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain

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

IPR018936 Phosphatidylinositol 3/4-kinase, conserved site

IPR000341 Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain

IPR042133 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha, PX domain

IPR015433 Phosphatidylinositol kinase

IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domain

IPR042236 Phosphoinositide 3-kinase, accessory (PIK) domain superfamily

IPR001683 Phox homology

IPR037705 PI3K-C2-alpha, catalytic domain

IPR011009 Protein kinase-like domain superfamily

IPR036871 PX domain superfamily

IPR029071 Ubiquitin-like domain superfamily
GlyGen

Q61194 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

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All nucleic 111

cDNA 110

Primer pair 1

Microarray probesets 5

Summaries

All 65

Developmental Gene Expression 3

Gene Ontology 10

Phenotypes 23
Earliest

J:33383 Molz L, et al., Cpk is a novel class of Drosophila PtdIns 3-kinase containing a C2 domain. J Biol Chem. 1996 Jun 7;271(23):13892-9
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pik3c2a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr74409	Chr7:116043825-116043836 (-)	-1,147 bp
Tssr74408	Chr7:116042674-116042697 (-)	-2 bp
Tssr74407	Chr7:116042647-116042671 (-)	25 bp
Tssr74406	Chr7:116042635-116042646 (-)	43 bp
Tssr74405	Chr7:116002220-116002255 (-)	40,446 bp
Tssr74404	Chr7:115980920-115980924 (-)	61,762 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)
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