Phka2
Gene Detail

Symbol Name ID

Phka2 phosphorylase kinase alpha 2 MGI:97577

Synonyms

6330505C01Rik, k, Phk

Feature Type

protein coding gene

Genetic Map

Chromosome X

73.95 cM, cytoband F3-F4
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

ChrX:160502166-160598878 bp, + strand From VEGA annotation of GRCm38   96713 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:246  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: phosphorylase b kinase, regulatory subunit alpha
Gene Tree: Phka2

Human homologs

Human Homolog		PHKA2, phosphorylase kinase, alpha 2 (liver)
NCBI Gene ID		5256
neXtProt AC		NX_P46019
Human Synonyms		GSD9A, PHK, PYK, PYKL, XLG, XLG2
Human Chr (Location)		Xp22.2-p22.1; chrX:18910416-19002480 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PHKA2

Alleles and phenotypes

All alleles(4) : Targeted(1) Gene trapped(3)

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	carbohydrate metabolic process, glycogen metabolic process, ...
Component	membrane, phosphorylase kinase complex, ...
Function	calmodulin binding, catalytic activity, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (100)    Tissues (95)   
Theiler Stages: 22, 28

Assay Type	Results
RNA in situ	94
RT-PCR	6

cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000019587 (Evidence)
Ensembl Gene Model	ENSMUSG00000031295 (Evidence)
Entrez Gene	110094 (Evidence)
DFCI	TC1579123, TC1586158, TC1614131, TC1624894, TC1705630, TC1759908
DoTS	DT.101360068, DT.101372207, DT.101720691, DT.528901, DT.55266379, DT.91383770, DT.94150376, DT.94183158
NIA Mouse Gene Index	U020368
EC	2.7.1.38
Consensus CDS Project	CCDS30504.1, CCDS53237.1
International Mouse Knockout Project Status	Phka2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019587	VEGA Gene Model | MGI Sequence Detail	96713	C57BL/6J
transcript	OTTMUST00000046788	VEGA | MGI Sequence Detail	4133	Not Applicable
polypeptide	OTTMUSP00000021158	VEGA | MGI Sequence Detail	1235	Not Applicable

All sequences(78) RefSeq(6) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(273 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR011613	Glycoside hydrolase family 15
InterPro	IPR008734	Phosphorylase kinase alpha/beta subunit
InterPro	IPR012341	Six-hairpin glycosidase
InterPro	IPR008928	Six-hairpin glycosidase-like
Protein Ontology	PR:000012659	phosphorylase b kinase regulatory subunit alpha, liver isoform

References

(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:147857 Liu SP, et al., Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver. Hepatology. 2007 Nov;46(5):1413-25
All references(41)

Other accession IDs

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