Phka2 MGI Mouse Gene Detail - MGI:97577 - phosphorylase kinase alpha 2

Symbol

Phka2
Name

phosphorylase kinase alpha 2
Synonyms

6330505C01Rik, k, Phk

Feature Type

protein coding gene
IDs

MGI:97577
NCBI Gene: 110094
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

ChrX:159285162-159381874 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 73.95 cM, cytoband F3-F4
Mapping Data

5 experiments

SNPs within 2kb

1790 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97577	protein coding gene	ChrX:159284900-159384772 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0036231	protein coding gene	ChrX:158435237-158531676 (+)
A/J	MGP_AJ_G0036201	protein coding gene	ChrX:157697686-157782982 (+)
AKR/J	MGP_AKRJ_G0036129	protein coding gene	ChrX:162693155-162791832 (+)
BALB/cJ	MGP_BALBcJ_G0036194	protein coding gene	ChrX:155770923-155863429 (+)
C3H/HeJ	MGP_C3HHeJ_G0035900	protein coding gene	ChrX:158834819-158923714 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036716	protein coding gene	ChrX:163149170-163246897 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033538	protein coding gene	ChrX:148931033-149012146 (+)
CAST/EiJ	MGP_CASTEiJ_G0035189	protein coding gene	ChrX:137859340-137942480 (+)
CBA/J	MGP_CBAJ_G0035875	protein coding gene	ChrX:167792623-167889476 (+)
DBA/2J	MGP_DBA2J_G0036041	protein coding gene	ChrX:156657797-156751099 (+)
FVB/NJ	MGP_FVBNJ_G0035972	protein coding gene	ChrX:155774814-155861215 (+)
LP/J	MGP_LPJ_G0036126	protein coding gene	ChrX:159611869-159707085 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0036004	protein coding gene	ChrX:176488785-176596179 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036757	protein coding gene	ChrX:157987584-158078731 (+)
PWK/PhJ	MGP_PWKPhJ_G0034887	protein coding gene	ChrX:134716267-134803293 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034708	protein coding gene	ChrX:138260133-138352756 (+)
WSB/EiJ	MGP_WSBEiJ_G0035324	protein coding gene	ChrX:155936046-156031486 (+)

Human Ortholog

PHKA2, phosphorylase kinase regulatory subunit alpha 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PHKA2, phosphorylase kinase regulatory subunit alpha 2
Synonyms

GSD9A, PHK, PYK, PYKL, XLG, XLG2
Links

HGNC:8926

NCBI Gene ID: 5256

neXtProt AC: NX_P46019

UniProt: P46019
Chr Location

Xp22.13; chrX:18892298-18984114 (-) GRCh38

MGI Vertebrate Homology

Phka2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PHKA2
Gene Tree

Phka2

Diseases

2 with human PHKA2 associations

				Human Disease	Mouse Models
				glycogen storage disease IDs glycogen storage disease DOID:2747 ICD10CM:E74.0 ICD9CM:271.0 MESH:D006008 NCI:C61272 UMLS_CUI:C0017919
				glycogen storage disease IXa IDs glycogen storage disease IXa DOID:0111042 ICD10CM:E74.0 OMIM:306000

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

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Phenotype Summary

7 phenotype references

All Mutations and Alleles

6
Gene trapped

3
Spontaneous

1
Targeted

2
Genomic Mutations

1 involving Phka2
Find Mice (IMSR)

20 strains or lines available

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All GO Annotations

6
GO References

6

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

870
Tissues

137
cDNA Data

17
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase phka2

ZFIN phka2

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All Sequences

78
RefSeq

20
UniProt

5
CCDS

CCDS30504.1, CCDS53237.1, CCDS90771.1

Ensembl

ENSMUSG00000031295 (Evidence)
NCBI Gene

110094

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031295	Ensembl Gene Model \| MGI Sequence Detail	96713	C57BL/6J	± kb
transcript	ENSMUST00000033652	Ensembl \| MGI Sequence Detail	4133	Not Applicable
polypeptide	ENSMUSP00000033652	Ensembl \| MGI Sequence Detail	1235	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012659 phosphorylase b kinase regulatory subunit alpha, liver isoform

(term hierarchy)
EC

2.7.1.38
InterPro Domains

IPR011613 GH15-like domain

IPR045583 Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain

IPR008734 Phosphorylase kinase alpha/beta subunit

IPR012341 Six-hairpin glycosidase-like superfamily

IPR008928 Six-hairpin glycosidase superfamily

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All nucleic 20

cDNA 18

Primer pair 2

Microarray probesets 4

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MGD-MRK-11547, MGD-MRK-13293, MGD-MRK-13296, MGI:1923403, MGI:97575

Summaries

All 43

Developmental Gene Expression 4

Gene Ontology 6

Phenotypes 7
Earliest

J:5367 Huijing F, et al., Location of phosphorylase kinase (Phk) in the mouse X chromosome. Biochem Genet. 1973 Jun;9(2):193-6
Latest

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

TSS for Phka2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr162551	ChrX:159285149-159285197 (+)	11 bp
Tssr162552	ChrX:159285414-159285481 (+)	286 bp
Tssr162553	ChrX:159285504-159285520 (+)	350 bp
Tssr162554	ChrX:159285627-159285702 (+)	503 bp
Tssr162555	ChrX:159285708-159285727 (+)	556 bp
Tssr162556	ChrX:159288175-159288178 (+)	3,015 bp
Tssr162557	ChrX:159312699-159312712 (+)	27,544 bp
Tssr162558	ChrX:159312925-159312951 (+)	27,776 bp
Tssr162559	ChrX:159312976-159313025 (+)	27,839 bp
Tssr162560	ChrX:159313045-159313057 (+)	27,889 bp
Tssr162561	ChrX:159313151-159313174 (+)	28,001 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