Phkg2 MGI Mouse Gene Detail - MGI:1916211 - phosphorylase kinase, gamma 2 (testis)

Symbol

Phkg2
Name

phosphorylase kinase, gamma 2 (testis)
Synonyms

1500017I02Rik

Feature Type

protein coding gene
IDs

MGI:1916211
NCBI Gene: 68961
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr7:127172512-127182479 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 69.60 cM, cytoband F4
Mapping Data

2 experiments

SNPs within 2kb

254 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916211	protein coding gene	Chr7:127169252-127182479 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033044	protein coding gene	Chr7:131933055-131945540 (+)
A/J	MGP_AJ_G0033027	protein coding gene	Chr7:128425409-128435469 (+)
AKR/J	MGP_AKRJ_G0032959	protein coding gene	Chr7:131731177-131741103 (+)
BALB/cJ	MGP_BALBcJ_G0033028	protein coding gene	Chr7:128071882-128081782 (+)
C3H/HeJ	MGP_C3HHeJ_G0032742	protein coding gene	Chr7:131633068-131643566 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033537	protein coding gene	Chr7:137079843-137089683 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030510	protein coding gene	Chr7:129613418-129623960 (+)
CAST/EiJ	MGP_CASTEiJ_G0032071	protein coding gene	Chr7:123427953-123439215 (+)
CBA/J	MGP_CBAJ_G0032715	protein coding gene	Chr7:141705301-141717443 (+)
DBA/2J	MGP_DBA2J_G0032867	protein coding gene	Chr7:126399362-126409457 (+)
FVB/NJ	MGP_FVBNJ_G0032820	protein coding gene	Chr7:126244816-126256000 (+)
LP/J	MGP_LPJ_G0032961	protein coding gene	Chr7:133411347-133425561 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032852	protein coding gene	Chr7:142822876-142833376 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033557	protein coding gene	Chr7:130725746-130736429 (+)
PWK/PhJ	MGP_PWKPhJ_G0031778	protein coding gene	Chr7:119408212-119418829 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031624	protein coding gene	Chr7:117534098-117545591 (+)
WSB/EiJ	MGP_WSBEiJ_G0032183	protein coding gene	Chr7:131692373-131703257 (+)

Human Ortholog

PHKG2, phosphorylase kinase catalytic subunit gamma 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PHKG2, phosphorylase kinase catalytic subunit gamma 2
Synonyms

GSD9C
Links

HGNC:8931

NCBI Gene ID: 5261

neXtProt AC: NX_P15735

UniProt: P15735
Chr Location

16p11.2; chr16:30748293-30761176 (+) GRCh38

MGI Vertebrate Homology

Phkg2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PHKG2
Gene Tree

Phkg2

Diseases

3 with human PHKG2 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 IXc IDs glycogen storage disease IXc DOID:0111043 ICD10CM:E74.0 MESH:C567809 OMIM:613027
				liver cirrhosis IDs liver cirrhosis DOID:5082 EFO:0001422 ICD10CM:K74.60 MESH:D008103 NCI:C2951 UMLS_CUI:C0023890

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

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
11 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

5
Gene trapped

2
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

21
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

764
Tissues

48
cDNA Data

88
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase phkg2

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All Sequences

77
RefSeq

26
UniProt

5
CCDS

CCDS21869.1

Ensembl

ENSMUSG00000030815 (Evidence)
NCBI Gene

68961

			Length	Strain/Species	Flank
genomic	ENSMUSG00000030815	Ensembl Gene Model \| MGI Sequence Detail	9968	C57BL/6J	± kb
transcript	ENSMUST00000033086	Ensembl \| MGI Sequence Detail	1570	Not Applicable
polypeptide	ENSMUSP00000033086	Ensembl \| MGI Sequence Detail	406	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012662 phosphorylase b kinase gamma catalytic chain, liver/testis isoform

(term hierarchy)
EC

2.7.11.19
InterPro Domains

IPR002291 Phosphorylase kinase, gamma catalytic subunit

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site

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All nucleic 89

cDNA 88

Primer pair 1

Microarray probesets 4

Summaries

All 40

Developmental Gene Expression 4

Gene Ontology 6

Phenotypes 11
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Phkg2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr69255	Chr7:127172517-127172540 (+)	17 bp
Tssr69256	Chr7:127172548-127172609 (+)	67 bp
Tssr69257	Chr7:127172718-127172783 (+)	239 bp
Tssr69258	Chr7:127172808-127172832 (+)	308 bp
Tssr69259	Chr7:127172850-127172855 (+)	341 bp
Tssr69260	Chr7:127172892-127172909 (+)	389 bp
Tssr69261	Chr7:127173036-127173045 (+)	529 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 12/17/2024 MGI 6.24